#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
PADI6	353238	broad.mit.edu	37	1	17699701	17699701	+	RNA	SNP	G	G	A			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr1:17699701G>A	ENST00000434762.2	+	0	317							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						cytoplasm organization (GO:0007028)|cytoskeleton organization (GO:0007010)|protein citrullination (GO:0018101)|regulation of translation by machinery localization (GO:0043143)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	AGATGACATCGCCCAGCCCTT	0.602																																						uc001bak.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29						c.(265-267)tcG>tcA		Homo sapiens peptidyl arginine deiminase, type VI (PADI6), mRNA.	L-Citrulline(DB00155)						54.0	56.0	55.0					1																	17699701		2154	4263	6417			353238				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity	g.chr1:17699701G>A	AY422079	CCDS72715.1	1p36.13	2014-07-10			ENSG00000256049	ENSG00000276747	3.5.3.15	"""Peptidyl arginine deiminases"""	20449	protein-coding gene	gene with protein product		610363				15087120	Standard	NM_207421		Approved		uc001bak.1	Q6TGC4	OTTHUMG00000002372		1.37:g.17699701G>A							p.S89S	NM_207421	NP_997304	Q6TGC4	PADI6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	1	267	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	81					Q330K5|Q70SX3	Silent	SNP	ENST00000434762.2	37	c.267G>A																																																																																					0.602	PADI6-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000006804.4	NM_207421	
NOTCH2	4853	broad.mit.edu	37	1	120539904	120539904	+	Frame_Shift_Del	DEL	C	C	-			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr1:120539904delC	ENST00000256646.2	-	4	686	c.467delG	c.(466-468)ggafs	p.G156fs	NOTCH2_ENST00000602566.1_Frame_Shift_Del_p.G117fs	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	156	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACAGGTACTTCCATTTGCACA	0.488			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																													uc001eik.3				Dom	yes		1	1p13-p11	4853	"""N, F, Mis"""	Notch homolog 2			L			"""marginal zone lymphoma, DLBCL"""		0				breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158						c.(466-468)ggafs		Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA.							116.0	92.0	100.0					1																	120539904		2201	4299	6500	SO:0001589	frameshift_variant	4853	Alagille Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	g.chr1:120539904delC	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.467delG	1.37:g.120539904delC	ENSP00000256646:p.Gly156fs					NOTCH2_uc001eil.3_Frame_Shift_Del_p.G156fs|NOTCH2_uc021osy.1_Frame_Shift_Del_p.G117fs|NOTCH2_uc001eim.4_Frame_Shift_Del_p.G73fs	p.G156fs	NM_024408	NP_077719	Q04721	NOTC2_HUMAN		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	3	764	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	156			EGF-like 4.		Q5T3X7|Q99734|Q9H240	Frame_Shift_Del	DEL	ENST00000256646.2	37	c.467delG	CCDS908.1																																																																																				0.488	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408	
HRNR	388697	broad.mit.edu	37	1	152193158	152193158	+	Missense_Mutation	SNP	G	G	A	rs201797889		TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr1:152193158G>A	ENST00000368801.2	-	3	1022	c.947C>T	c.(946-948)tCg>tTg	p.S316L	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	316					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGAGTGCCCCGAACCGGACCC	0.607																																						uc001ezt.1																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192						c.(946-948)tCg>tTg		Homo sapiens hornerin (HRNR), mRNA.		G	LEU/SER	0,4406		0,0,2203	82.0	92.0	89.0		947	-0.9	0.0	1		89	2,8598	2.2+/-6.3	0,2,4298	yes	missense	HRNR	NM_001009931.1	145	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging	316/2851	152193158	2,13004	2203	4300	6503	SO:0001583	missense	388697				keratinization		calcium ion binding|protein binding	g.chr1:152193158G>A	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.947C>T	1.37:g.152193158G>A	ENSP00000357791:p.Ser316Leu						p.S316L	NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	1023	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		316					Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.947C>T	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	G	9.470	1.095297	0.20471	0.0	2.33E-4	ENSG00000197915	ENST00000368801	T	0.01804	4.63	4.04	-0.89	0.10577	.	.	.	.	.	T	0.00300	0.0009	N	0.14661	0.345	0.09310	N	1	P	0.37864	0.61	B	0.21917	0.037	T	0.42275	-0.9461	9	0.27082	T	0.32	.	4.0184	0.09654	0.2066:0.0:0.4864:0.307	.	316	Q86YZ3	HORN_HUMAN	L	316	ENSP00000357791:S316L	ENSP00000357791:S316L	S	-	2	0	HRNR	150459782	0.056000	0.20664	0.000000	0.03702	0.001000	0.01503	0.903000	0.28475	-0.381000	0.07882	0.644000	0.83932	TCG		0.607	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868	
IVL	3713	broad.mit.edu	37	1	152883944	152883944	+	Silent	SNP	A	A	C			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr1:152883944A>C	ENST00000368764.3	+	2	1735	c.1671A>C	c.(1669-1671)ccA>ccC	p.P557P	IVL_ENST00000392667.2_Silent_p.P411P			P07476	INVO_HUMAN	involucrin	557					isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|response to UV-B (GO:0010224)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			ACATTCAACCAGCCCTGCCCA	0.587																																						uc021ozl.1																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29						c.(1669-1671)ccA>ccC		Homo sapiens involucrin (IVL), mRNA.							66.0	67.0	67.0					1																	152883944		2203	4300	6503	SO:0001819	synonymous_variant	3713				isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity	g.chr1:152883944A>C	BC046391	CCDS1030.1	1q21	2008-02-05			ENSG00000163207	ENSG00000163207			6187	protein-coding gene	gene with protein product		147360				2873896	Standard	NM_005547		Approved		uc001fau.3	P07476	OTTHUMG00000012451	ENST00000368764.3:c.1671A>C	1.37:g.152883944A>C						IVL_uc001fau.3_Silent_p.P557P	p.P557P	NM_005547	NP_005538	P07476	INVO_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		0	1671	+	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		557					Q5T7P4	Silent	SNP	ENST00000368764.3	37	c.1671A>C	CCDS1030.1																																																																																				0.587	IVL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034664.1	NM_005547	
OR2T3	343173	broad.mit.edu	37	1	248636836	248636836	+	Frame_Shift_Del	DEL	C	C	-			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr1:248636836delC	ENST00000359594.2	+	1	210	c.185delC	c.(184-186)accfs	p.T62fs		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	62						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)			CGCCTCCACACCCCCATGTAC	0.567																																						uc001iel.1																			0				breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31						c.(184-186)accfs		Homo sapiens olfactory receptor, family 2, subfamily T, member 3 (OR2T3), mRNA.							11.0	8.0	9.0					1																	248636836		2113	3933	6046	SO:0001589	frameshift_variant	343173				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248636836delC		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.185delC	1.37:g.248636836delC	ENSP00000352604:p.Thr62fs						p.T62fs	NM_001005495	NP_001005495	Q8NH03	OR2T3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		0	185	+	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)		62					B2RNJ1	Frame_Shift_Del	DEL	ENST00000359594.2	37	c.185delC	CCDS31117.1																																																																																				0.567	OR2T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097348.1	NM_001005495	
OR2T34	127068	broad.mit.edu	37	1	248737870	248737870	+	Frame_Shift_Del	DEL	G	G	-	rs546063301	byFrequency	TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr1:248737870delG	ENST00000328782.2	-	1	210	c.189delC	c.(187-189)cccfs	p.P63fs		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	63						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(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	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)			AGAAGTACATGGGGGTGTGGA	0.562																																						uc001iep.1																			0				breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43						c.(187-189)cccfs		Homo sapiens olfactory receptor, family 2, subfamily T, member 34 (OR2T34), mRNA.							17.0	19.0	19.0					1																	248737870		2091	4233	6324	SO:0001589	frameshift_variant	127068				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248737870delG	BK004477	CCDS31120.1	1q44	2012-08-09			ENSG00000183310	ENSG00000183310		"""GPCR / Class A : Olfactory receptors"""	31256	protein-coding gene	gene with protein product							Standard	NM_001001821		Approved		uc001iep.1	Q8NGX1	OTTHUMG00000040387	ENST00000328782.2:c.189delC	1.37:g.248737870delG	ENSP00000330904:p.Pro63fs						p.P63fs	NM_001001821	NP_001001821	Q8NGX1	O2T34_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		0	189	-	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)		63					B2RNJ8|Q6IEY5|Q96R31	Frame_Shift_Del	DEL	ENST00000328782.2	37	c.189delC	CCDS31120.1																																																																																				0.562	OR2T34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097138.1	NM_001001821	
OR14I1	401994	broad.mit.edu	37	1	248845184	248845184	+	Missense_Mutation	SNP	T	T	C			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr1:248845184T>C	ENST00000342623.3	-	1	445	c.422A>G	c.(421-423)cAg>cGg	p.Q141R		NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I, member 1	141						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						GACTGCCATCTGATAGCACCC	0.542																																						uc001ieu.1																			0				NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						c.(421-423)cAg>cGg		Homo sapiens olfactory receptor, family 14, subfamily I, member 1 (OR14I1), mRNA.							91.0	78.0	82.0					1																	248845184		2203	4300	6503	SO:0001583	missense	401994				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248845184T>C		CCDS31125.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000189181	ENSG00000189181		"""GPCR / Class A : Olfactory receptors"""	19575	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily BU, member 1"""	OR5BU1P, OR5BU1			Standard	NM_001004734		Approved		uc001ieu.1	A6ND48	OTTHUMG00000040378	ENST00000342623.3:c.422A>G	1.37:g.248845184T>C	ENSP00000339726:p.Gln141Arg						p.Q141R	NM_001004734	NP_001004734	A6ND48	O14I1_HUMAN			0	422	-			141						Missense_Mutation	SNP	ENST00000342623.3	37	c.422A>G	CCDS31125.1	.	.	.	.	.	.	.	.	.	.	.	5.619	0.298963	0.10622	.	.	ENSG00000189181	ENST00000342623	T	0.00366	7.79	3.48	3.48	0.39840	GPCR, rhodopsin-like superfamily (1);	0.605046	0.14091	N	0.341965	T	0.00300	0.0009	L	0.44542	1.39	0.09310	N	1	B	0.20459	0.045	B	0.27715	0.082	T	0.30297	-0.9983	10	0.21014	T	0.42	.	9.9336	0.41537	0.0:0.0:0.0:1.0	.	141	A6ND48	O14I1_HUMAN	R	141	ENSP00000339726:Q141R	ENSP00000339726:Q141R	Q	-	2	0	OR14I1	246911807	0.008000	0.16893	0.013000	0.15412	0.031000	0.12232	-0.019000	0.12546	1.418000	0.47098	0.438000	0.28831	CAG		0.542	OR14I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097128.1	NM_001004734	
MS4A3	932	broad.mit.edu	37	11	59828736	59828736	+	Missense_Mutation	SNP	C	C	A			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr11:59828736C>A	ENST00000278865.3	+	2	176	c.103C>A	c.(103-105)Cag>Aag	p.Q35K	MS4A3_ENST00000358152.2_Missense_Mutation_p.Q35K|MS4A3_ENST00000395032.2_Intron|MS4A3_ENST00000534744.1_Missense_Mutation_p.Q35K|MS4A3_ENST00000526199.1_3'UTR	NM_006138.4	NP_006129.4	Q96HJ5	MS4A3_HUMAN	membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific)	35				Q -> H (in Ref. 1; AAA62319). {ECO:0000305}.		cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		all_epithelial(135;0.245)				TTCTGTCTACCAGCCCATAGA	0.473																																						uc001nom.3																			0				endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						c.(103-105)Cag>Aag		Homo sapiens membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific) (MS4A3), transcript variant 1, mRNA.							113.0	106.0	109.0					11																	59828736		2201	4295	6496	SO:0001583	missense	932					endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding|receptor activity	g.chr11:59828736C>A	L35848	CCDS31567.1, CCDS31568.1, CCDS41651.1	11q12-q13.1	2008-03-25				ENSG00000149516			7317	protein-coding gene	gene with protein product		606498		CD20L		7524084	Standard	NM_006138		Approved	HTM4	uc001nom.3	Q96HJ5		ENST00000278865.3:c.103C>A	11.37:g.59828736C>A	ENSP00000278865:p.Gln35Lys					MS4A3_uc001non.3_Missense_Mutation_p.Q35K|MS4A3_uc001noo.3_Intron	p.Q35K	NM_006138	NP_006129	Q96HJ5	MS4A3_HUMAN			1	231	+		all_epithelial(135;0.245)	35	Q -> H (in Ref. 1; AAA62319).				A8MTP8|Q8NHW2	Missense_Mutation	SNP	ENST00000278865.3	37	c.103C>A	CCDS31567.1	.	.	.	.	.	.	.	.	.	.	C	12.52	1.961320	0.34565	.	.	ENSG00000149516	ENST00000358152;ENST00000278865;ENST00000534744	T;T;T	0.35605	1.3;3.1;1.3	4.21	-0.299	0.12808	.	1.663950	0.02924	N	0.138284	T	0.24122	0.0584	L	0.27053	0.805	0.09310	N	1	B;B	0.22683	0.073;0.043	B;B	0.21708	0.036;0.016	T	0.11690	-1.0577	10	0.15499	T	0.54	-13.9211	5.1847	0.15178	0.5309:0.3654:0.0:0.1037	.	35;35	Q96HJ5-2;Q96HJ5	.;MS4A3_HUMAN	K	35	ENSP00000350872:Q35K;ENSP00000278865:Q35K;ENSP00000434117:Q35K	ENSP00000278865:Q35K	Q	+	1	0	MS4A3	59585312	0.000000	0.05858	0.000000	0.03702	0.099000	0.18886	0.074000	0.14662	0.133000	0.18654	0.563000	0.77884	CAG		0.473	MS4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394417.1		
SLC22A6	9356	broad.mit.edu	37	11	62749352	62749352	+	Silent	SNP	C	C	A			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr11:62749352C>A	ENST00000377871.3	-	4	1025	c.759G>T	c.(757-759)ctG>ctT	p.L253L	SLC22A6_ENST00000360421.4_Silent_p.L253L|SLC22A6_ENST00000421062.2_Silent_p.L253L|SLC22A6_ENST00000537349.1_5'UTR|SLC22A6_ENST00000458333.2_Silent_p.L253L	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	253					alpha-ketoglutarate transport (GO:0015742)|organic anion transport (GO:0015711)|protein homooligomerization (GO:0051260)|renal tubular secretion (GO:0097254)|response to methotrexate (GO:0031427)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	chloride ion binding (GO:0031404)|inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36					Acetaminophen(DB00316)|Acetazolamide(DB00819)|Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Aciclovir(DB00787)|Adefovir Dipivoxil(DB00718)|Aminohippurate(DB00345)|Aminophenazone(DB01424)|Amoxicillin(DB01060)|Antipyrine(DB01435)|Aspartame(DB00168)|Benzylpenicillin(DB01053)|Bromodiphenhydramine(DB01237)|Bumetanide(DB00887)|Captopril(DB01197)|Carbenicillin(DB00578)|Carprofen(DB00821)|Caspofungin(DB00520)|Cefacetrile(DB01414)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Cefotiam(DB00229)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftriaxone(DB01212)|Cephalexin(DB00567)|Chloramphenicol(DB00446)|Chlorothiazide(DB00880)|Chlorpropamide(DB00672)|Cidofovir(DB00369)|Cilastatin(DB01597)|Cimetidine(DB00501)|Cinoxacin(DB00827)|Cloxacillin(DB01147)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Cyclothiazide(DB00606)|Dabrafenib(DB08912)|Diclofenac(DB00586)|Didanosine(DB00900)|Diflunisal(DB00861)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Enalapril(DB00584)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Fluorescein(DB00693)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Foscarnet(DB00529)|Furosemide(DB00695)|Ganciclovir(DB01004)|Gentamicin(DB00798)|Glyburide(DB01016)|Hydrochlorothiazide(DB00999)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Losartan(DB00678)|Meclofenamic acid(DB00939)|Methazolamide(DB00703)|Methotrexate(DB00563)|Minocycline(DB01017)|Nafcillin(DB00607)|Nalidixic Acid(DB00779)|Naproxen(DB00788)|Nateglinide(DB00731)|Norfloxacin(DB01059)|Novobiocin(DB01051)|Ofloxacin(DB01165)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piperacillin(DB00319)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Riboflavin(DB00140)|Salicylic acid(DB00936)|Stavudine(DB00649)|Streptomycin(DB01082)|Sulindac(DB00605)|Tenofovir(DB00300)|Tetracycline(DB00759)|Tolbutamide(DB01124)|Tolmetin(DB00500)|Trifluridine(DB00432)|Valaciclovir(DB00577)|Valproic Acid(DB00313)|Vancomycin(DB00512)|Zalcitabine(DB00943)|Zidovudine(DB00495)	GCGCAGAGACCAGTAGCTGCA	0.617																																						uc001nwk.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						c.(757-759)ctG>ctT		Homo sapiens solute carrier family 22 (organic anion transporter), member 6 (SLC22A6), transcript variant 1, mRNA.							68.0	60.0	63.0					11																	62749352		2201	4298	6499	SO:0001819	synonymous_variant	9356				alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding	g.chr11:62749352C>A	AF057039	CCDS8041.1, CCDS31591.1, CCDS44631.1, CCDS44632.1	11q12.3	2013-07-15			ENSG00000197901	ENSG00000197901		"""Solute carriers"""	10970	protein-coding gene	gene with protein product		607582				9762842, 9950961	Standard	NM_004790		Approved	ROAT1, PAHT, OAT1	uc001nwk.3	Q4U2R8	OTTHUMG00000167767	ENST00000377871.3:c.759G>T	11.37:g.62749352C>A						SLC22A6_uc001nwl.3_Silent_p.L253L|SLC22A6_uc001nwj.3_Silent_p.L253L|SLC22A6_uc001nwm.3_Silent_p.L253L	p.L253L	NM_004790	NP_004781	Q4U2R8	S22A6_HUMAN			3	1092	-			253					A8MY93|B2D0R6|O95187|O95742|Q7LDA0|Q8N192|Q9NQA6|Q9NQC2|Q9UBG6|Q9UEQ8	Silent	SNP	ENST00000377871.3	37	c.759G>T	CCDS31591.1																																																																																				0.617	SLC22A6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396186.1	NM_004790	
PCNXL3	399909	broad.mit.edu	37	11	65381159	65381159	+	5'Flank	SNP	A	A	C			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr11:65381159A>C	ENST00000355703.3	+	0	0				MAP3K11_ENST00000309100.3_Silent_p.G23G|MAP3K11_ENST00000530153.1_5'Flank	NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)							integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						CGCCCCCACCACCCCCGCTGC	0.667																																						uc001oew.3																			0				breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1)	24						c.(67-69)ggT>ggG		Homo sapiens mitogen-activated protein kinase kinase kinase 11 (MAP3K11), mRNA.							11.0	13.0	12.0					11																	65381159		2179	4271	6450	SO:0001631	upstream_gene_variant	4296				activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation	centrosome|microtubule	ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity	g.chr11:65381159A>C	BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539		11.37:g.65381159A>C	Exception_encountered					MAP3K11_uc010rol.2_5'Flank|PCNXL3_uc001oey.2_5'Flank	p.G23G	NM_002419	NP_002410	Q16584	M3K11_HUMAN			0	562	-			23			Gly-rich.|Poly-Gly.		Q6MZN8	Silent	SNP	ENST00000355703.3	37	c.69T>G	CCDS44650.1																																																																																				0.667	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390321.1	NM_032223	
MMP13	4322	broad.mit.edu	37	11	102825250	102825250	+	Missense_Mutation	SNP	G	G	A	rs371894268		TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr11:102825250G>A	ENST00000260302.3	-	3	476	c.448C>T	c.(448-450)Cct>Tct	p.P150S	MMP13_ENST00000340273.4_Missense_Mutation_p.P150S	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	150					bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cartilage development (GO:0051216)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)	Marimastat(DB00786)	AAATTCAGAGGAGTTACATCG	0.343																																						uc001phl.3																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27						c.(448-450)Cct>Tct		Homo sapiens matrix metallopeptidase 13 (collagenase 3) (MMP13), mRNA.							72.0	72.0	72.0					11																	102825250		2202	4299	6501	SO:0001583	missense	4322				collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding	g.chr11:102825250G>A	X75308	CCDS8324.1	11q22.3	2014-01-30	2005-08-08		ENSG00000137745	ENSG00000137745		"""Endogenous ligands"""	7159	protein-coding gene	gene with protein product	"""collagenase 3"""	600108	"""matrix metalloproteinase 13 (collagenase 3)"""			8207000	Standard	NM_002427		Approved	CLG3	uc001phl.3	P45452	OTTHUMG00000165850	ENST00000260302.3:c.448C>T	11.37:g.102825250G>A	ENSP00000260302:p.Pro150Ser						p.P150S	NM_002427	NP_002418	P45452	MMP13_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0144)	2	477	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	150					A8K846|B2RCZ3|Q6NWN6	Missense_Mutation	SNP	ENST00000260302.3	37	c.448C>T	CCDS8324.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.096454	0.76870	.	.	ENSG00000137745	ENST00000260302;ENST00000546012;ENST00000340273	T;T	0.53857	0.6;0.6	5.9	5.9	0.94986	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.77198	0.4095	M	0.87456	2.885	0.80722	D	1	D	0.76494	0.999	D	0.65987	0.94	T	0.80054	-0.1543	10	0.87932	D	0	.	20.2683	0.98464	0.0:0.0:1.0:0.0	.	150	P45452	MMP13_HUMAN	S	150	ENSP00000260302:P150S;ENSP00000339672:P150S	ENSP00000260302:P150S	P	-	1	0	MMP13	102330460	1.000000	0.71417	1.000000	0.80357	0.521000	0.34408	9.813000	0.99286	2.800000	0.96347	0.591000	0.81541	CCT		0.343	MMP13-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386648.1	NM_002427	
GPRC5A	9052	broad.mit.edu	37	12	13061399	13061399	+	Silent	SNP	C	C	T			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr12:13061399C>T	ENST00000014914.5	+	2	1106	c.216C>T	c.(214-216)ctC>ctT	p.L72L	GPRC5A_ENST00000542056.1_Intron	NM_003979.3	NP_003970.1	Q8NFJ5	RAI3_HUMAN	G protein-coupled receptor, class C, group 5, member A	72					signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	18		Prostate(47;0.141)		BRCA - Breast invasive adenocarcinoma(232;0.0708)	Tretinoin(DB00755)	TTCTCTTCCTCCTGGGTGTGT	0.557																																						uc001rba.3																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	18						c.(214-216)ctC>ctT		Homo sapiens G protein-coupled receptor, family C, group 5, member A (GPRC5A), mRNA.	Tretinoin(DB00755)						168.0	151.0	157.0					12																	13061399		2203	4300	6503	SO:0001819	synonymous_variant	9052					cytoplasmic vesicle membrane|Golgi apparatus|integral to plasma membrane	G-protein coupled receptor activity	g.chr12:13061399C>T	AF095448	CCDS8657.1	12p13-p12.3	2014-01-30	2014-01-30	2005-05-03		ENSG00000013588		"""GPCR / Class C : Orphans"""	9836	protein-coding gene	gene with protein product		604138	"""retinoic acid induced 3"", ""G protein-coupled receptor, family C, group 5, member A"""	RAI3, GPCR5A		9857033	Standard	NM_003979		Approved	RAIG1	uc001rba.3	Q8NFJ5		ENST00000014914.5:c.216C>T	12.37:g.13061399C>T							p.L72L	NM_003979	NP_003970	Q8NFJ5	RAI3_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.0708)	1	866	+		Prostate(47;0.141)	72					B3KV45|O95357	Silent	SNP	ENST00000014914.5	37	c.216C>T	CCDS8657.1																																																																																				0.557	GPRC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400682.1		
ATF7IP	55729	broad.mit.edu	37	12	14599967	14599967	+	Missense_Mutation	SNP	G	G	T			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr12:14599967G>T	ENST00000540793.1	+	5	2130	c.1975G>T	c.(1975-1977)Gat>Tat	p.D659Y	ATF7IP_ENST00000541654.1_3'UTR|ATF7IP_ENST00000543189.1_Missense_Mutation_p.D658Y|ATF7IP_ENST00000536444.1_Missense_Mutation_p.D658Y|ATF7IP_ENST00000261168.4_Missense_Mutation_p.D659Y|ATF7IP_ENST00000544627.1_Missense_Mutation_p.D667Y			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	659	Interaction with SETDB1.				DNA methylation (GO:0006306)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045898)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)				cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						AGCCAAAGAAGATCTTAAGAA	0.308																																						uc001rbw.3																			0				cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						c.(1975-1977)Gat>Tat		Homo sapiens activating transcription factor 7 interacting protein (ATF7IP), mRNA.							54.0	61.0	59.0					12																	14599967		2203	4295	6498	SO:0001583	missense	55729				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding	g.chr12:14599967G>T	AJ242978	CCDS8663.1, CCDS66326.1, CCDS66327.1, CCDS73449.1	12p13.1	2005-11-18				ENSG00000171681			20092	protein-coding gene	gene with protein product		613644				10976766, 10777215	Standard	XM_005253424		Approved	FLJ10688, p621	uc001rbw.3	Q6VMQ6		ENST00000540793.1:c.1975G>T	12.37:g.14599967G>T	ENSP00000444589:p.Asp659Tyr					ATF7IP_uc010shs.1_Missense_Mutation_p.D658Y|ATF7IP_uc001rbu.3_Missense_Mutation_p.D659Y|ATF7IP_uc001rbv.1_Missense_Mutation_p.D658Y|ATF7IP_uc001rbx.3_Missense_Mutation_p.D658Y|ATF7IP_uc010sht.1_Missense_Mutation_p.D659Y|ATF7IP_uc001rby.4_Missense_Mutation_p.D659Y|ATF7IP_uc001rca.3_Missense_Mutation_p.D659Y	p.D659Y	NM_018179	NP_060649	Q6VMQ6	MCAF1_HUMAN			5	2133	+			659			Interaction with SETDB1.		F5GX74|G3V1U0|Q4G0T9|Q6P3T3|Q86XW5|Q9NVJ9|Q9NWC2|Q9Y4X8	Missense_Mutation	SNP	ENST00000540793.1	37	c.1975G>T	CCDS8663.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.345862	0.82022	.	.	ENSG00000171681	ENST00000261168;ENST00000543189;ENST00000536444;ENST00000544627;ENST00000540793	T;T;T;T;T	0.22539	1.95;2.0;1.95;1.95;1.95	5.62	5.62	0.85841	.	0.000000	0.64402	D	0.000002	T	0.47192	0.1432	M	0.61703	1.905	0.53688	D	0.999974	D;D;D;D;D;D	0.89917	1.0;1.0;0.998;0.998;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;1.0;0.995;0.995;1.0;1.0	T	0.40098	-0.9581	10	0.87932	D	0	-22.1552	19.2538	0.93938	0.0:0.0:1.0:0.0	.	667;658;658;659;658;270	B4E2A2;B4DRL6;G3V1U0;Q6VMQ6;Q6VMQ6-2;B3KQF8	.;.;.;MCAF1_HUMAN;.;.	Y	659;658;658;667;659	ENSP00000261168:D659Y;ENSP00000443179:D658Y;ENSP00000445955:D658Y;ENSP00000440440:D667Y;ENSP00000444589:D659Y	ENSP00000261168:D659Y	D	+	1	0	ATF7IP	14491234	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.778000	0.62368	2.648000	0.89879	0.563000	0.77884	GAT		0.308	ATF7IP-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401400.1	NM_018179	
BTBD11	121551	broad.mit.edu	37	12	108012040	108012040	+	Silent	SNP	G	G	A	rs150221761		TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr12:108012040G>A	ENST00000280758.5	+	10	2865	c.2337G>A	c.(2335-2337)ccG>ccA	p.P779P	BTBD11_ENST00000357167.4_Silent_p.P316P|BTBD11_ENST00000420571.2_Intron|BTBD11_ENST00000490090.2_Silent_p.P779P|RP11-128P10.1_ENST00000548473.1_RNA	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	779						integral component of membrane (GO:0016021)		p.C783fs*22(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						AGACAGCCCCGCCCCCCTTGT	0.612													G|||	1	0.000199681	0.0	0.0	5008	,	,		16022	0.0		0.001	False		,,,				2504	0.0					uc001tmk.1																			1	Insertion - Frameshift(1)	p.C783fs*22(1)	large_intestine(1)	NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						c.(2335-2337)ccG>ccA		Homo sapiens BTB (POZ) domain containing 11 (BTBD11), transcript variant a, mRNA.		G	,	1,4405	2.1+/-5.4	0,1,2202	47.0	46.0	46.0		948,2337	4.0	1.0	12	dbSNP_134	46	27,8573	19.2+/-60.6	0,27,4273	no	coding-synonymous,coding-synonymous	BTBD11	NM_001017523.1,NM_001018072.1	,	0,28,6475	AA,AG,GG		0.314,0.0227,0.2153	,	316/642,779/1105	108012040	28,12978	2203	4300	6503	SO:0001819	synonymous_variant	121551					integral to membrane	DNA binding	g.chr12:108012040G>A	AK091276	CCDS31893.1, CCDS41827.1	12q24.11	2013-10-02			ENSG00000151136	ENSG00000151136		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	23844	protein-coding gene	gene with protein product							Standard	XM_005268645		Approved	FLJ33957, ABTB2B	uc001tmk.1	A6QL63	OTTHUMG00000150413	ENST00000280758.5:c.2337G>A	12.37:g.108012040G>A						BTBD11_uc009zut.1_Intron|BTBD11_uc001tmj.3_Silent_p.P779P|BTBD11_uc001tml.1_Silent_p.P316P	p.P779P	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN			9	2858	+			779					A4FU41|B3KXG3|C9J019|C9JK80|E9PHS4|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	Silent	SNP	ENST00000280758.5	37	c.2337G>A	CCDS31893.1																																																																																				0.612	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318003.1	NM_152322	
SYNE2	23224	broad.mit.edu	37	14	64634098	64634098	+	Missense_Mutation	SNP	C	C	T	rs370674900		TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr14:64634098C>T	ENST00000344113.4	+	91	16965	c.16753C>T	c.(16753-16755)Cgc>Tgc	p.R5585C	SYNE2_ENST00000555002.1_Missense_Mutation_p.R2219C|SYNE2_ENST00000394768.2_Missense_Mutation_p.R1970C|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000357395.3_Missense_Mutation_p.R1970C|SYNE2_ENST00000358025.3_Missense_Mutation_p.R5585C|SYNE2_ENST00000554584.1_Missense_Mutation_p.R5460C	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5585					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GGCACTGGAGCGCTGCAGGTT	0.478																																						uc001xgl.3																			0				NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.(16753-16755)Cgc>Tgc		Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.							60.0	61.0	60.0					14																	64634098		2203	4300	6503	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64634098C>T	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.16753C>T	14.37:g.64634098C>T	ENSP00000341781:p.Arg5585Cys					SYNE2_uc001xgm.3_Missense_Mutation_p.R5585C|SYNE2_uc010apy.3_Missense_Mutation_p.R1970C|SYNE2_uc001xgn.3_Missense_Mutation_p.R547C|SYNE2_uc021rui.1_Missense_Mutation_p.R505C|SYNE2_uc001xgo.3_Non-coding_Transcript|SYNE2_uc010aqa.3_5'UTR|SYNE2_uc001xgq.3_5'Flank	p.R5585C	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	90	16983	+			5585					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.16753C>T	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	C	19.59	3.857059	0.71834	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768	T;T;T;T;T;T	0.55234	0.53;3.83;0.53;0.74;3.88;3.83	5.78	4.85	0.62838	.	0.338551	0.25484	N	0.030351	T	0.64227	0.2579	M	0.65498	2.005	0.58432	D	0.999999	D;B;D;D	0.89917	1.0;0.017;0.998;0.999	D;B;P;P	0.64042	0.921;0.005;0.836;0.784	T	0.65269	-0.6209	10	0.62326	D	0.03	.	7.5639	0.27868	0.1235:0.6885:0.1199:0.068	.	1970;5460;5585;5585	Q8WXH0-7;G3V5X4;Q8WXH0;Q8WXH0-2	.;.;SYNE2_HUMAN;.	C	5585;1970;5585;5460;5466;2219;1970	ENSP00000350719:R5585C;ENSP00000349969:R1970C;ENSP00000341781:R5585C;ENSP00000452570:R5460C;ENSP00000450831:R2219C;ENSP00000378249:R1970C	ENSP00000261678:R5466C	R	+	1	0	SYNE2	63703851	0.001000	0.12720	0.993000	0.49108	0.698000	0.40448	0.985000	0.29578	2.890000	0.99128	0.655000	0.94253	CGC		0.478	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914	
CXADRP2	646243	broad.mit.edu	37	15	22016213	22016213	+	IGR	SNP	A	A	C			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr15:22016213A>C								DKFZP547L112 (4163 upstream) : MIR3118-6 (33060 downstream)																							CAGATATAACAGATGAAGTCA	0.413																																						uc010tzk.1																			0											c.(502-504)tcT>tcG		Homo sapiens coxsackie virus and adenovirus receptor pseudogene 2 (CXADRP2), non-coding RNA.																																				SO:0001628	intergenic_variant	646243							g.chr15:22016213A>C																													15.37:g.22016213A>C							p.S168S							0	666	-									Silent	SNP		37	c.504T>G																																																																																				0	0.413								
WDR72	256764	broad.mit.edu	37	15	53889439	53889439	+	Silent	SNP	C	C	T			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr15:53889439C>T	ENST00000396328.1	-	18	3224	c.2985G>A	c.(2983-2985)gcG>gcA	p.A995A	WDR72_ENST00000557913.1_Silent_p.A992A|WDR72_ENST00000559418.1_Silent_p.A1005A|WDR72_ENST00000360509.5_Silent_p.A995A	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	995										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		GTTGAACTTCCGCCAAGAGAA	0.378																																						uc002acj.2																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71						c.(2983-2985)gcG>gcA		Homo sapiens WD repeat domain 72 (WDR72), mRNA.							207.0	192.0	197.0					15																	53889439		2194	4293	6487	SO:0001819	synonymous_variant	256764							g.chr15:53889439C>T	BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"""WD repeat domain containing"""	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.2985G>A	15.37:g.53889439C>T							p.A995A	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN		all cancers(107;0.0511)	17	3027	-			995					Q7Z3I3|Q8N8X2	Silent	SNP	ENST00000396328.1	37	c.2985G>A	CCDS10151.1																																																																																				0.378	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2	NM_182758	
PAGR1	79447	broad.mit.edu	37	16	29827999	29828009	+	Frame_Shift_Del	DEL	AGGAGGCCGAG	AGGAGGCCGAG	-			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr16:29827999_29828009delAGGAGGCCGAG	ENST00000320330.6	+	1	715_725	c.153_163delAGGAGGCCGAG	c.(151-165)gaaggaggccgagagfs	p.EGGRE51fs	AC009133.12_ENST00000564980.1_RNA|AC009133.20_ENST00000569039.1_RNA|PAGR1_ENST00000609618.1_Frame_Shift_Del_p.EGGRE51fs|AC009133.12_ENST00000569809.1_RNA			Q9BTK6	PAGR1_HUMAN	PAXIP1 associated glutamate-rich protein 1	51	Glu-rich.					histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)											ACGAGGGGGAAGGAGGCCGAGAGGAGACCGA	0.697											OREG0023722	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002dug.4																			0				kidney(1)|lung(1)|prostate(1)	3						c.(151-165)gaaggaggccgagagfs		Homo sapiens chromosome 16 open reading frame 53 (C16orf53), mRNA.																																				SO:0001589	frameshift_variant	79447							g.chr16:29827999_29828009delAGGAGGCCGAG	BC003640	CCDS10655.1	16p11.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000185928	ENSG00000185928			28707	protein-coding gene	gene with protein product	"""glutamate-rich coactivator interacting with SRC1/NCOA1"", ""PTIP-associated 1 protein"", ""glutamate-rich coactivator associated with SRC1"""	612033	"""chromosome 16 open reading frame 53"""	C16orf53		17500065, 19039327	Standard	NM_024516		Approved	MGC4606, GAS, PA1	uc002dug.4	Q9BTK6	OTTHUMG00000132117	ENST00000320330.6:c.153_163delAGGAGGCCGAG	16.37:g.29827999_29828009delAGGAGGCCGAG	ENSP00000326519:p.Glu51fs		OREG0023722	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	812	BOLA2_uc010bzb.1_Intron	p.E51fs	NM_024516	NP_078792	Q9BTK6	PA1_HUMAN			0	472_482	+			51			Glu-rich.		A2ICR6	Frame_Shift_Del	DEL	ENST00000320330.6	37	c.153_163delAGGAGGCCGAG	CCDS10655.1																																																																																				0.697	PAGR1-002	PUTATIVE	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000473165.1	NM_024516	
FAM65A	79567	broad.mit.edu	37	16	67572596	67572596	+	Silent	SNP	G	G	A			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr16:67572596G>A	ENST00000379312.3	+	3	259	c.138G>A	c.(136-138)ccG>ccA	p.P46P	FAM65A_ENST00000422602.2_Silent_p.P62P|FAM65A_ENST00000428437.2_Silent_p.P56P|FAM65A_ENST00000540839.3_Silent_p.P62P|FAM65A_ENST00000566522.1_Intron|FAM65A_ENST00000042381.4_Silent_p.P42P|CTD-2012K14.2_ENST00000567122.1_RNA	NM_001193522.1|NM_024519.3	NP_001180451.1|NP_078795.2	Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	46						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		TCTTCAGCCCGCCGGGGCCCC	0.682																																						uc010vjp.2																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39						c.(184-186)ccG>ccA		Homo sapiens family with sequence similarity 65, member A (FAM65A), transcript variant 3, mRNA.							32.0	39.0	37.0					16																	67572596		2129	4162	6291	SO:0001819	synonymous_variant	79567					cytoplasm	binding	g.chr16:67572596G>A	AK127792	CCDS10840.1, CCDS54026.1, CCDS54027.1, CCDS54028.1	16q22.1	2008-02-05			ENSG00000039523	ENSG00000039523			25836	protein-coding gene	gene with protein product						11572484	Standard	NM_001193522		Approved	FLJ13725	uc010vjp.2	Q6ZS17	OTTHUMG00000137536	ENST00000379312.3:c.138G>A	16.37:g.67572596G>A						FAM65A_uc010cei.2_5'UTR|FAM65A_uc002eth.3_Silent_p.P42P|FAM65A_uc010cej.3_Silent_p.P46P|FAM65A_uc002eti.2_Intron|FAM65A_uc010vjq.2_Silent_p.P56P|FAM65A_uc002etj.1_Silent_p.P41P|FAM65A_uc002etk.3_Silent_p.P41P	p.P62P	NM_001193523	NP_078795	Q6ZS17	FA65A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)	2	372	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	46					B4DEQ9|B4DIM2|E9PBS3|Q4G0A4|Q7Z5R7|Q8NDA4|Q96J39|Q96PV8|Q9H8D9	Silent	SNP	ENST00000379312.3	37	c.186G>A	CCDS54028.1	.	.	.	.	.	.	.	.	.	.	G	12.81	2.048452	0.36181	.	.	ENSG00000039523	ENST00000428437	.	.	.	5.25	-5.86	0.02304	.	.	.	.	.	T	0.34978	0.0916	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39313	-0.9620	4	.	.	.	-9.7149	0.896	0.01263	0.2136:0.1398:0.3166:0.33	.	.	.	.	T	37	.	.	A	+	1	0	FAM65A	66130097	0.002000	0.14202	0.892000	0.35008	0.918000	0.54935	-0.984000	0.03755	-0.999000	0.03442	0.491000	0.48974	GCC		0.682	FAM65A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268866.3	NM_024519	
LRRC37B	114659	broad.mit.edu	37	17	30348508	30348508	+	Silent	SNP	T	T	C			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr17:30348508T>C	ENST00000341671.7	+	1	348	c.343T>C	c.(343-345)Ttg>Ctg	p.L115L	LRRC37B_ENST00000584368.1_Silent_p.L127L|LRRC37B_ENST00000394713.3_Silent_p.L115L|LRRC37B_ENST00000543378.2_Silent_p.L33L|LRRC37B_ENST00000327564.7_Silent_p.L142L	NM_052888.2	NP_443120.2	Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	115						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				AGAGCCGTTCTTGGCTGCACA	0.547																																						uc002hgu.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29						c.(343-345)Ttg>Ctg		Homo sapiens leucine rich repeat containing 37B (LRRC37B), mRNA.							74.0	79.0	77.0					17																	30348508		2201	4299	6500	SO:0001819	synonymous_variant	114659					integral to membrane		g.chr17:30348508T>C	AJ314647	CCDS32609.1	17q11.2	2006-11-29		2005-08-09	ENSG00000185158	ENSG00000185158			29070	protein-coding gene	gene with protein product	"""KIAA0563-related"""					11468690, 10843809	Standard	NM_052888		Approved		uc002hgu.3	Q96QE4	OTTHUMG00000132785	ENST00000341671.7:c.343T>C	17.37:g.30348508T>C						LRRC37B_uc010wbx.2_Silent_p.L33L|LRRC37B_uc010csu.3_Silent_p.L115L	p.L115L	NM_052888	NP_443120	Q96QE4	LR37B_HUMAN			0	354	+		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)	115					Q17RC9|Q5YKG6	Silent	SNP	ENST00000341671.7	37	c.343T>C	CCDS32609.1																																																																																				0.547	LRRC37B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446508.1	NM_052888	
G6PC3	92579	broad.mit.edu	37	17	42152338	42152338	+	Splice_Site	SNP	C	C	A			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr17:42152338C>A	ENST00000269097.4	+	4	649	c.418C>A	c.(418-420)Cgc>Agc	p.R140S		NM_138387.3	NP_612396.1	Q9BUM1	G6PC3_HUMAN	glucose 6 phosphatase, catalytic, 3	140					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glucose-6-phosphate transport (GO:0015760)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucose-6-phosphatase activity (GO:0004346)			endometrium(2)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	11		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.113)		TCTTTCTAGCCGCTGGGTAAG	0.542																																						uc002iex.3																			0				endometrium(2)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	11						c.e4-1		Homo sapiens glucose 6 phosphatase, catalytic, 3 (G6PC3), transcript variant 1, mRNA.							216.0	204.0	208.0					17																	42152338		2203	4300	6503	SO:0001630	splice_region_variant	92579				gluconeogenesis|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphatase activity	g.chr17:42152338C>A	BC021574	CCDS11476.1	17q21.31	2014-09-17				ENSG00000141349			24861	protein-coding gene	gene with protein product		611045				12370122, 12965222	Standard	NM_138387		Approved	UGRP	uc002iex.3	Q9BUM1		ENST00000269097.4:c.417-1C>A	17.37:g.42152338C>A						G6PC3_uc002iey.3_Splice_Site_p.S14_splice|G6PC3_uc002iez.3_Splice_Site_p.S14_splice	p.S139_splice	NM_138387	NP_612396	Q9BUM1	G6PC3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.113)	4	653	+		Breast(137;0.00637)|Prostate(33;0.0313)	139					Q8WU15	Missense_Mutation	SNP	ENST00000269097.4	37	c.417_splice	CCDS11476.1	.	.	.	.	.	.	.	.	.	.	C	10.12	1.262298	0.23051	.	.	ENSG00000141349	ENST00000269097	T	0.75477	-0.94	5.19	4.19	0.49359	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.536176	0.20036	N	0.100618	T	0.69967	0.3170	M	0.82923	2.615	0.32576	N	0.529164	B	0.21606	0.058	B	0.22880	0.042	T	0.64542	-0.6383	10	0.08599	T	0.76	-6.8018	6.7317	0.23387	0.1785:0.7315:0.0:0.09	.	140	Q9BUM1	G6PC3_HUMAN	S	140	ENSP00000269097:R140S	ENSP00000269097:R140S	R	+	1	0	G6PC3	39507864	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	1.464000	0.35288	1.250000	0.43966	0.655000	0.94253	CGC		0.542	G6PC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457675.1	NM_138387	Missense_Mutation
RALBP1	10928	broad.mit.edu	37	18	9516893	9516893	+	Missense_Mutation	SNP	A	A	G			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr18:9516893A>G	ENST00000019317.4	+	3	518	c.295A>G	c.(295-297)Agt>Ggt	p.S99G	RP11-61L19.3_ENST00000609094.1_RNA|RALBP1_ENST00000383432.3_Missense_Mutation_p.S99G|RNU2-27P_ENST00000516185.1_RNA			Q15311	RBP1_HUMAN	ralA binding protein 1	99					ATP catabolic process (GO:0006200)|chemotaxis (GO:0006935)|positive regulation of Cdc42 GTPase activity (GO:0043089)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|transport (GO:0006810)	cytosol (GO:0005829)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ATPase activity, coupled to movement of substances (GO:0043492)|GTPase activator activity (GO:0005096)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	14					Carbamazepine(DB00564)|Doxorubicin(DB00997)|Sorafenib(DB00398)|Vincristine(DB00541)	TGAGGCAGAAAGTCCTTCTAA	0.373																																						uc002kob.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	14						c.(295-297)Agt>Ggt		Homo sapiens ralA binding protein 1 (RALBP1), mRNA.							60.0	64.0	63.0					18																	9516893		2203	4300	6503	SO:0001583	missense	10928				chemotaxis|positive regulation of Cdc42 GTPase activity|small GTPase mediated signal transduction|transport	cytosol|membrane	ATPase activity, coupled to movement of substances|Rac GTPase activator activity|Rac GTPase binding|Ral GTPase binding	g.chr18:9516893A>G	L42542	CCDS11845.1	18p11.22	2006-04-22			ENSG00000017797	ENSG00000017797			9841	protein-coding gene	gene with protein product		605801				7673236	Standard	NM_006788		Approved	RLIP76, RIP1, RIP	uc002koc.3	Q15311	OTTHUMG00000131596	ENST00000019317.4:c.295A>G	18.37:g.9516893A>G	ENSP00000019317:p.Ser99Gly					RALBP1_uc002koc.3_Missense_Mutation_p.S99G	p.S99G	NM_006788	NP_006779	Q15311	RBP1_HUMAN			2	518	+			99					D3DUI0	Missense_Mutation	SNP	ENST00000019317.4	37	c.295A>G	CCDS11845.1	.	.	.	.	.	.	.	.	.	.	A	15.67	2.902047	0.52227	.	.	ENSG00000017797	ENST00000019317;ENST00000383432;ENST00000458039	T;T	0.12147	2.71;2.71	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	T	0.17874	0.0429	L	0.60455	1.87	0.58432	D	0.999999	B	0.33345	0.409	B	0.34722	0.188	T	0.02053	-1.1222	10	0.49607	T	0.09	-6.5598	14.9078	0.70733	1.0:0.0:0.0:0.0	.	99	Q15311	RBP1_HUMAN	G	99	ENSP00000019317:S99G;ENSP00000372924:S99G	ENSP00000019317:S99G	S	+	1	0	RALBP1	9506893	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.267000	0.78462	1.969000	0.57287	0.533000	0.62120	AGT		0.373	RALBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254479.1	NM_006788	
PTPN2	5771	broad.mit.edu	37	18	12794472	12794472	+	Frame_Shift_Del	DEL	T	T	-			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr18:12794472delT	ENST00000309660.5	-	9	1146	c.1053delA	c.(1051-1053)aaafs	p.K351fs	PTPN2_ENST00000591497.1_Frame_Shift_Del_p.K322fs|PTPN2_ENST00000353319.4_Intron|PTPN2_ENST00000327283.3_Frame_Shift_Del_p.K351fs|PTPN2_ENST00000591115.1_Frame_Shift_Del_p.K374fs	NM_002828.3	NP_002819.2	P17706	PTN2_HUMAN	protein tyrosine phosphatase, non-receptor type 2	351	Endoplasmic reticulum location.				B cell differentiation (GO:0030183)|cytokine-mediated signaling pathway (GO:0019221)|erythrocyte differentiation (GO:0030218)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemotaxis (GO:0050922)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of interleukin-2-mediated signaling pathway (GO:1902206)|negative regulation of interleukin-4-mediated signaling pathway (GO:1902215)|negative regulation of interleukin-6-mediated signaling pathway (GO:0070104)|negative regulation of lipid storage (GO:0010888)|negative regulation of macrophage colony-stimulating factor signaling pathway (GO:1902227)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of positive thymic T cell selection (GO:1902233)|negative regulation of prolactin signaling pathway (GO:1902212)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|negative regulation of tyrosine phosphorylation of Stat1 protein (GO:0042512)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|negative regulation of tyrosine phosphorylation of Stat5 protein (GO:0042524)|negative regulation of tyrosine phosphorylation of Stat6 protein (GO:0042527)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of gluconeogenesis (GO:0045722)|regulation of hepatocyte growth factor receptor signaling pathway (GO:1902202)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|T cell differentiation (GO:0030217)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|syntaxin binding (GO:0019905)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1)|skin(3)	13		Lung NSC(161;8.94e-06)				CTCGAATACGTTTCCGTAGAG	0.428																																						uc002krp.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1)|skin(3)	13						c.(1051-1053)aaafs		Homo sapiens protein tyrosine phosphatase, non-receptor type 2 (PTPN2), transcript variant 1, mRNA.							119.0	94.0	102.0					18																	12794472		2203	4300	6503	SO:0001589	frameshift_variant	5771				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway	endoplasmic reticulum|nucleoplasm	protein binding	g.chr18:12794472delT	M25393	CCDS11863.1, CCDS11864.1, CCDS11865.1, CCDS59306.1	18p11.3-p11.2	2011-06-09			ENSG00000175354	ENSG00000175354		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9650	protein-coding gene	gene with protein product		176887		PTPT		2164224	Standard	NM_002828		Approved	TCELLPTP, TC-PTP, TCPTP	uc002krp.3	P17706	OTTHUMG00000131702	ENST00000309660.5:c.1053delA	18.37:g.12794472delT	ENSP00000311857:p.Lys351fs					PTPN2_uc002krn.3_Frame_Shift_Del_p.K374fs|PTPN2_uc002krl.3_Frame_Shift_Del_p.K351fs|PTPN2_uc002krm.3_Intron	p.K351fs	NM_002828	NP_002819	P17706	PTN2_HUMAN			8	1247	-		Lung NSC(161;8.94e-06)	351					A8K955|A8MXU3|K7ENG3|Q96AU5|Q96HR2	Frame_Shift_Del	DEL	ENST00000309660.5	37	c.1053delA	CCDS11865.1																																																																																				0.428	PTPN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254613.3	NM_002828, NM_080422, NM_080423	
GATA6	2627	broad.mit.edu	37	18	19762971	19762971	+	Missense_Mutation	SNP	T	T	A			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr18:19762971T>A	ENST00000269216.3	+	6	1864	c.1587T>A	c.(1585-1587)aaT>aaA	p.N529K	GATA6_ENST00000581694.1_Missense_Mutation_p.N529K|RNU6-702P_ENST00000364982.1_RNA	NM_005257.4	NP_005248.2	Q92908	GATA6_HUMAN	GATA binding protein 6	529					blood coagulation (GO:0007596)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac vascular smooth muscle cell differentiation (GO:0060947)|cellular response to BMP stimulus (GO:0071773)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to hypoxia (GO:0071456)|Clara cell differentiation (GO:0060486)|endodermal cell fate determination (GO:0007493)|in utero embryonic development (GO:0001701)|intestinal epithelial cell differentiation (GO:0060575)|liver development (GO:0001889)|lung saccule development (GO:0060430)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta1 production (GO:0032911)|negative regulation of transforming growth factor beta2 production (GO:0032912)|organ formation (GO:0048645)|outflow tract septum morphogenesis (GO:0003148)|pancreatic A cell differentiation (GO:0003310)|phospholipid metabolic process (GO:0006644)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to growth factor (GO:0070848)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)|tube morphogenesis (GO:0035239)|type B pancreatic cell differentiation (GO:0003309)|Type II pneumocyte differentiation (GO:0060510)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	18	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		STAD - Stomach adenocarcinoma(5;0.106)			GCAGCAAAAATACTTCCCCCA	0.373																																					Colon(8;48 282 46199 46856)|Melanoma(177;170 2725 12489 26999)	uc002ktt.1																			0				NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	18						c.(1585-1587)aaT>aaA		Homo sapiens GATA binding protein 6 (GATA6), mRNA.							118.0	106.0	110.0					18																	19762971		2203	4300	6503	SO:0001583	missense	2627				blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus		protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	g.chr18:19762971T>A	U66075	CCDS11872.1	18q11-q12	2013-01-25	2001-11-28		ENSG00000141448	ENSG00000141448		"""GATA zinc finger domain containing"""	4174	protein-coding gene	gene with protein product		601656	"""GATA-binding protein 6"""			8975704	Standard	XM_005258248		Approved		uc002ktt.2	Q92908	OTTHUMG00000131767	ENST00000269216.3:c.1587T>A	18.37:g.19762971T>A	ENSP00000269216:p.Asn529Lys					GATA6_uc002ktu.1_Missense_Mutation_p.N529K	p.N529K	NM_005257	NP_005248	Q92908	GATA6_HUMAN	STAD - Stomach adenocarcinoma(5;0.106)		5	1852	+	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		529					B0YJ17|P78327	Missense_Mutation	SNP	ENST00000269216.3	37	c.1587T>A	CCDS11872.1	.	.	.	.	.	.	.	.	.	.	T	16.11	3.030589	0.54790	.	.	ENSG00000141448	ENST00000269216	D	0.97772	-4.53	6.07	-1.7	0.08159	.	0.214632	0.46145	D	0.000316	D	0.93710	0.7990	L	0.59436	1.845	0.39990	D	0.975024	B	0.31817	0.341	B	0.26969	0.075	D	0.86259	0.1654	10	0.11182	T	0.66	-13.3343	9.101	0.36669	0.0:0.4789:0.118:0.4031	.	529	Q92908	GATA6_HUMAN	K	529	ENSP00000269216:N529K	ENSP00000269216:N529K	N	+	3	2	GATA6	18016969	0.289000	0.24334	0.943000	0.38184	0.998000	0.95712	-0.281000	0.08456	-0.271000	0.09272	0.528000	0.53228	AAT		0.373	GATA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254696.1	NM_005257	
CDH2	1000	broad.mit.edu	37	18	25591942	25591942	+	Silent	SNP	A	A	C			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr18:25591942A>C	ENST00000269141.3	-	4	837	c.414T>G	c.(412-414)gtT>gtG	p.V138V	CDH2_ENST00000399380.3_Silent_p.V107V	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	138					adherens junction organization (GO:0034332)|blood vessel morphogenesis (GO:0048514)|calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell adhesion mediated by cadherin (GO:0044331)|cell-cell junction organization (GO:0045216)|glial cell differentiation (GO:0010001)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuronal stem cell maintenance (GO:0097150)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|striated muscle cell differentiation (GO:0051146)	apical plasma membrane (GO:0016324)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|synapse (GO:0045202)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CTATTTCTTCAACTTCTGCTG	0.388																																						uc002kwg.2																			0				NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						c.(412-414)gtT>gtG		Homo sapiens cadherin 2, type 1, N-cadherin (neuronal) (CDH2), mRNA.							152.0	136.0	141.0					18																	25591942		2203	4300	6503	SO:0001819	synonymous_variant	1000				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding	g.chr18:25591942A>C	S42303	CCDS11891.1	18q12.1	2010-01-26			ENSG00000170558	ENSG00000170558		"""CD molecules"", ""Cadherins / Major cadherins"""	1759	protein-coding gene	gene with protein product	"""N-cadherin"""	114020		NCAD		2384753, 7731968, 2216790	Standard	NM_001792		Approved	CDHN, CD325	uc002kwg.2	P19022	OTTHUMG00000059940	ENST00000269141.3:c.414T>G	18.37:g.25591942A>C						CDH2_uc010xbn.1_Silent_p.V107V	p.V138V	NM_001792	NP_001783	P19022	CADH2_HUMAN			3	873	-			138					A8MWK3|B0YIY6|Q14923|Q8N173	Silent	SNP	ENST00000269141.3	37	c.414T>G	CCDS11891.1																																																																																				0.388	CDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133246.3	NM_001792	
SBNO2	22904	broad.mit.edu	37	19	1113547	1113547	+	Missense_Mutation	SNP	T	T	C			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr19:1113547T>C	ENST00000361757.3	-	19	2471	c.2234A>G	c.(2233-2235)cAg>cGg	p.Q745R	SBNO2_ENST00000438103.2_Missense_Mutation_p.Q688R|SBNO2_ENST00000587024.1_Missense_Mutation_p.Q735R	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	745					bone mineralization (GO:0030282)|bone trabecula morphogenesis (GO:0061430)|macrophage activation involved in immune response (GO:0002281)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoclast fusion (GO:0072675)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of inflammatory response (GO:0050727)|transcription, DNA-templated (GO:0006351)					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCCACCCGCTGGGGGCCGCC	0.697																																						uc002lrk.4																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(2233-2235)cAg>cGg		Homo sapiens strawberry notch homolog 2 (Drosophila) (SBNO2), transcript variant 1, mRNA.							12.0	18.0	16.0					19																	1113547		1913	4067	5980	SO:0001583	missense	22904				macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent			g.chr19:1113547T>C	AK074102	CCDS45894.1, CCDS45895.1	19p13.3	2008-02-05	2006-10-06	2006-10-06		ENSG00000064932			29158	protein-coding gene	gene with protein product		615729	"""KIAA0963"""	KIAA0963		10231032	Standard	NM_014963		Approved	FLJ00173, Stno, Sno	uc002lrk.4	Q9Y2G9		ENST00000361757.3:c.2234A>G	19.37:g.1113547T>C	ENSP00000354733:p.Gln745Arg					SBNO2_uc002lrj.4_Missense_Mutation_p.Q688R|SBNO2_uc010dse.3_Missense_Mutation_p.Q728R	p.Q745R	NM_014963	NP_055778	Q9Y2G9	SBNO2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	18	2472	-		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)	745					A8K8P2|B3KWJ1|O75257|Q3KQX0|Q8TEM0	Missense_Mutation	SNP	ENST00000361757.3	37	c.2234A>G	CCDS45894.1	.	.	.	.	.	.	.	.	.	.	T	10.21	1.286996	0.23478	.	.	ENSG00000064932	ENST00000361757;ENST00000438103;ENST00000250872	.	.	.	4.3	3.27	0.37495	.	0.242425	0.40640	N	0.001051	T	0.29321	0.0730	L	0.31926	0.97	0.22541	N	0.999006	B;B	0.33318	0.408;0.355	B;B	0.28465	0.09;0.054	T	0.17379	-1.0371	9	0.62326	D	0.03	-16.2378	10.2851	0.43562	0.0:0.0:0.1663:0.8337	.	745;688	Q9Y2G9;Q9Y2G9-3	SBNO2_HUMAN;.	R	745;688;752	.	ENSP00000250872:Q752R	Q	-	2	0	SBNO2	1064547	1.000000	0.71417	0.004000	0.12327	0.011000	0.07611	4.565000	0.60836	0.675000	0.31264	-0.488000	0.04728	CAG		0.697	SBNO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458065.2	NM_014963	
ZNF554	115196	broad.mit.edu	37	19	2833912	2833912	+	Missense_Mutation	SNP	A	A	T			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr19:2833912A>T	ENST00000317243.5	+	5	877	c.679A>T	c.(679-681)Aat>Tat	p.N227Y	ZNF554_ENST00000591265.1_3'UTR	NM_001102651.1	NP_001096121.1	Q86TJ5	ZN554_HUMAN	zinc finger protein 554	227					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGAAAATGGTAATCTGAGCCC	0.502																																						uc002lwm.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	23						c.(679-681)Aat>Tat		Homo sapiens zinc finger protein 554 (ZNF554), mRNA.							106.0	107.0	106.0					19																	2833912		1898	4115	6013	SO:0001583	missense	115196				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:2833912A>T	AK027860	CCDS42462.1	19p13.3	2013-09-20			ENSG00000172006	ENSG00000172006		"""Zinc fingers, C2H2-type"", ""-"""	26629	protein-coding gene	gene with protein product						12477932	Standard	NM_001102651		Approved	FLJ34817	uc002lwm.2	Q86TJ5	OTTHUMG00000180493	ENST00000317243.5:c.679A>T	19.37:g.2833912A>T	ENSP00000321132:p.Asn227Tyr					ZNF554_uc002lwl.2_Missense_Mutation_p.N176Y	p.N227Y	NM_001102651	NP_001096121	Q86TJ5	ZN554_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	4	877	+		Hepatocellular(1079;0.137)	227					Q8NAT3|Q9BWN3	Missense_Mutation	SNP	ENST00000317243.5	37	c.679A>T	CCDS42462.1	.	.	.	.	.	.	.	.	.	.	A	11.79	1.744399	0.30865	.	.	ENSG00000172006	ENST00000317243	T	0.06768	3.26	2.71	-1.25	0.09405	.	.	.	.	.	T	0.04724	0.0128	L	0.34521	1.04	0.09310	N	0.999999	P	0.40476	0.718	B	0.28139	0.086	T	0.34204	-0.9838	9	0.66056	D	0.02	.	5.555	0.17111	0.2868:0.5361:0.0:0.177	.	227	Q86TJ5	ZN554_HUMAN	Y	227	ENSP00000321132:N227Y	ENSP00000321132:N227Y	N	+	1	0	ZNF554	2784912	0.006000	0.16342	0.001000	0.08648	0.020000	0.10135	1.023000	0.30065	-0.090000	0.12462	-1.339000	0.01253	AAT		0.502	ZNF554-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451598.3	NM_152303	
C19orf71	100128569	broad.mit.edu	37	19	3543251	3543252	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr19:3543251_3543252delGG	ENST00000329493.5	+	2	126_127	c.102_103delGG	c.(100-105)ctggagfs	p.E35fs	MFSD12_ENST00000389395.3_Intron|MFSD12_ENST00000398558.4_Intron|AC005786.7_ENST00000589360.1_RNA	NM_001135580.1	NP_001129052.1	A6NCJ1	CS071_HUMAN	chromosome 19 open reading frame 71	35										endometrium(2)	2						ACCTGTCCCTGGAGGGTTCCCG	0.644																																						uc010xhm.2																			0				endometrium(2)	2						c.(100-105)ctggagfs		Homo sapiens chromosome 19 open reading frame 71 (C19orf71), mRNA.																																				SO:0001589	frameshift_variant	100128569							g.chr19:3543251_3543252delGG		CCDS45918.1	19p13.3	2012-10-26			ENSG00000183397	ENSG00000183397			34496	protein-coding gene	gene with protein product							Standard	NM_001135580		Approved	LOC100128569	uc010xhm.2	A6NCJ1		ENST00000329493.5:c.102_103delGG	19.37:g.3543251_3543252delGG	ENSP00000327950:p.Glu35fs					MFSD12_uc002lxw.3_Intron|MFSD12_uc002lxx.3_Intron	p.L34fs	NM_001135580	NP_001129052	A6NCJ1	CS071_HUMAN			1	123_124	+			34						Frame_Shift_Del	DEL	ENST00000329493.5	37	c.102_103delGG	CCDS45918.1																																																																																				0.644	C19orf71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452943.1	NM_001135580	
MCOLN1	57192	broad.mit.edu	37	19	7591685	7591685	+	Silent	SNP	G	G	A	rs374412302		TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr19:7591685G>A	ENST00000264079.6	+	4	569	c.444G>A	c.(442-444)gcG>gcA	p.A148A		NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN	mucolipin 1	148					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular iron ion homeostasis (GO:0006879)|ion transmembrane transport (GO:0034220)|release of sequestered calcium ion into cytosol (GO:0051209)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cation channel activity (GO:0005261)|NAADP-sensitive calcium-release channel activity (GO:0072345)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GCCGGTATGCGTATGTCCGTG	0.657																																						uc002mgo.3																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(442-444)gcG>gcA		Homo sapiens mucolipin 1 (MCOLN1), mRNA.		G		0,4406		0,0,2203	133.0	91.0	106.0		444	-2.6	0.3	19		106	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	MCOLN1	NM_020533.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		148/581	7591685	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	57192				calcium ion transport|cellular iron ion homeostasis|transferrin transport	integral to plasma membrane|late endosome membrane|lysosomal membrane	cation channel activity|iron ion transmembrane transporter activity	g.chr19:7591685G>A	AF249319	CCDS12180.1	19p13.2	2011-12-16				ENSG00000090674		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	13356	protein-coding gene	gene with protein product		605248				16382100	Standard	NM_020533		Approved	TRPML1, ML4, MLIV, MST080, MSTP080, TRPM-L1	uc002mgo.3	Q9GZU1		ENST00000264079.6:c.444G>A	19.37:g.7591685G>A						MCOLN1_uc002mgp.3_Missense_Mutation_p.R35H	p.A148A	NM_020533	NP_065394	Q9GZU1	MCLN1_HUMAN			3	585	+			148					D6W647|Q7Z4F7|Q9H292|Q9H4B3|Q9H4B5	Silent	SNP	ENST00000264079.6	37	c.444G>A	CCDS12180.1	.	.	.	.	.	.	.	.	.	.	G	13.35	2.209793	0.39003	0.0	1.16E-4	ENSG00000090674	ENST00000394321	.	.	.	5.24	-2.59	0.06209	.	.	.	.	.	T	0.26521	0.0648	.	.	.	0.23036	N	0.998394	B	0.12630	0.006	B	0.08055	0.003	T	0.24870	-1.0148	7	0.87932	D	0	.	4.1266	0.10129	0.3559:0.2352:0.3368:0.0721	.	35	Q9GZU1-2	.	H	35	.	ENSP00000377856:R35H	R	+	2	0	MCOLN1	7497685	0.001000	0.12720	0.315000	0.25238	0.384000	0.30261	-1.612000	0.02061	-0.647000	0.05444	-0.165000	0.13383	CGT		0.657	MCOLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458974.2	NM_020533	
CLEC4M	10332	broad.mit.edu	37	19	7832494	7832494	+	Silent	SNP	C	C	T	rs370711365		TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr19:7832494C>T	ENST00000327325.5	+	6	1147	c.1029C>T	c.(1027-1029)gaC>gaT	p.D343D	CLEC4M_ENST00000357361.2_Intron|CLEC4M_ENST00000394122.2_Silent_p.D331D|CLEC4M_ENST00000334806.5_Silent_p.D292D|CLEC4M_ENST00000595496.1_Silent_p.D207D|CLEC4M_ENST00000596707.1_Silent_p.D276D|CLEC4M_ENST00000596363.1_Intron|CLEC4M_ENST00000248228.4_Silent_p.D321D|CLEC4M_ENST00000359059.5_Silent_p.D276D|CLEC4M_ENST00000597522.1_Intron	NM_001144909.1|NM_014257.4	NP_001138381.1|NP_055072.3	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M	343	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|ICAM-3 receptor activity (GO:0030369)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|receptor activity (GO:0004872)|virion binding (GO:0046790)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						AATGGGTGGACGGCTCACCTC	0.562																																						uc010dvt.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						c.(1027-1029)gaC>gaT		Homo sapiens C-type lectin domain family 4, member M (CLEC4M), transcript variant 9, mRNA.		C	,,,,,,,,	0,4406		0,0,2203	111.0	95.0	100.0		876,957,621,828,,891,960,,1029	-2.5	0.2	19		100	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,intron,coding-synonymous,coding-synonymous,intron,coding-synonymous	CLEC4M	NM_001144904.1,NM_001144905.1,NM_001144906.1,NM_001144907.1,NM_001144908.1,NM_001144909.1,NM_001144910.1,NM_001144911.1,NM_014257.4	,,,,,,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,,,,,,	292/349,319/376,207/264,276/333,,297/354,320/377,,343/400	7832494	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10332				cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding	g.chr19:7832494C>T	AB015629	CCDS12187.1, CCDS59346.1, CCDS59347.1, CCDS59348.1	19p13	2008-02-05	2005-02-04	2005-02-11		ENSG00000104938		"""C-type lectin domain containing"", ""CD molecules"""	13523	protein-coding gene	gene with protein product		605872	"""CD299 antigen"""	CD209L, CD299		10072769	Standard	NM_001144904		Approved	HP10347, DC-SIGNR, LSIGN, DCSIGNR, DC-SIGN2	uc010dvt.3	Q9H2X3		ENST00000327325.5:c.1029C>T	19.37:g.7832494C>T						CLEC4M_uc002mhy.2_3'UTR|CLEC4M_uc002mih.3_Silent_p.D320D|CLEC4M_uc010xjw.2_Silent_p.D276D|CLEC4M_uc010dvs.3_Silent_p.D319D|CLEC4M_uc010xjx.2_Silent_p.D292D|CLEC4M_uc002mhz.3_Intron|CLEC4M_uc002mic.3_Intron|CLEC4M_uc002mia.3_Silent_p.D207D	p.D343D	NM_001144909	NP_001138381	Q9H2X3	CLC4M_HUMAN			5	1147	+			343			C-type lectin.		A6NKI4|A8K8B3|Q69F40|Q969M4|Q96QP3|Q96QP4|Q96QP5|Q96QP6|Q9BXS3|Q9H2Q9|Q9H8F0|Q9Y2A8	Silent	SNP	ENST00000327325.5	37	c.1029C>T	CCDS12187.1																																																																																				0.562	CLEC4M-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461161.1	NM_014257	
CYP4F12	66002	broad.mit.edu	37	19	15795890	15795890	+	Missense_Mutation	SNP	C	C	T	rs199760551		TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr19:15795890C>T	ENST00000550308.1	+	9	1378	c.998C>T	c.(997-999)aCg>aTg	p.T333M	CYP4F12_ENST00000324632.10_Missense_Mutation_p.T333M	NM_023944.3	NP_076433	Q9HCS2	CP4FC_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 12	333					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|leukotriene B4 catabolic process (GO:0036101)|long-chain fatty acid metabolic process (GO:0001676)|negative regulation of blood coagulation (GO:0030195)|oxidation-reduction process (GO:0055114)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|very long-chain fatty acid metabolic process (GO:0000038)|vitamin E metabolic process (GO:0042360)|vitamin K biosynthetic process (GO:0042371)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057)			NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)				Fingolimod(DB08868)	CATGACACCACGGCCAGTGGC	0.627																																						uc002nbl.3																			0				NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						c.(997-999)aCg>aTg		Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 12 (CYP4F12), mRNA.		C	MET/THR	7,4399		0,7,2196	40.0	38.0	39.0		998	2.5	1.0	19		39	0,8600		0,0,4300	no	missense	CYP4F12	NM_023944.3	81	0,7,6496	TT,TC,CC		0.0,0.1589,0.0538	probably-damaging	333/525	15795890	7,12999	2203	4300	6503	SO:0001583	missense	66002							g.chr19:15795890C>T	AB035130	CCDS42517.1	19p13.1	2008-02-05	2003-01-14		ENSG00000186204	ENSG00000186204		"""Cytochrome P450s"""	18857	protein-coding gene	gene with protein product		611485	"""cytochrome P450, subfamily IVF, polypeptide 12"""			11162607	Standard	NM_023944		Approved		uc002nbl.3	Q9HCS2	OTTHUMG00000164477	ENST00000550308.1:c.998C>T	19.37:g.15795890C>T	ENSP00000448998:p.Thr333Met						p.T333M	NM_023944	NP_076433					8	1117	+	Acute lymphoblastic leukemia(2;0.0367)							E7ET51|O60389|Q5JPJ7|Q9HCS1	Missense_Mutation	SNP	ENST00000550308.1	37	c.998C>T	CCDS42517.1	.	.	.	.	.	.	.	.	.	.	.	13.71	2.319057	0.41096	0.001589	0.0	ENSG00000186204	ENST00000550308;ENST00000324632	T;T	0.78364	-1.17;-1.17	2.47	2.47	0.30058	.	0.000000	0.64402	U	0.000001	D	0.90373	0.6987	H	0.95917	3.74	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	D	0.91999	0.5609	10	0.87932	D	0	.	11.0413	0.47833	0.0:1.0:0.0:0.0	.	333	Q9HCS2	CP4FC_HUMAN	M	333	ENSP00000448998:T333M;ENSP00000321821:T333M	ENSP00000321821:T333M	T	+	2	0	CYP4F12	15656890	0.999000	0.42202	0.990000	0.47175	0.171000	0.22731	4.730000	0.62015	1.683000	0.51011	0.313000	0.20887	ACG		0.627	CYP4F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378938.9		
SBSN	374897	broad.mit.edu	37	19	36019170	36019170	+	Missense_Mutation	SNP	C	C	T	rs138249808		TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr19:36019170C>T	ENST00000452271.2	-	1	42	c.14G>A	c.(13-15)cGt>cAt	p.R5H	SBSN_ENST00000518157.1_Missense_Mutation_p.R5H	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	suprabasin	5						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GCCGACCAGACGTGCAAGATG	0.587																																						uc002oad.2																			0				large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14						c.(13-15)cGt>cAt		Homo sapiens suprabasin (SBSN), transcript variant 1, mRNA.		C	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	36.0	33.0	34.0		14,14,14	-6.9	0.0	19	dbSNP_134	34	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	SBSN	NM_001166034.1,NM_001166035.1,NM_198538.3	29,29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	5/591,5/170,5/248	36019170	1,13005	2203	4300	6503	SO:0001583	missense	374897					extracellular region		g.chr19:36019170C>T	AY358701	CCDS12464.1, CCDS54253.1	19q13.13	2008-02-05							24950	protein-coding gene	gene with protein product		609969				12228223	Standard	NM_198538		Approved	UNQ698, HLAR698	uc002oad.2	Q6UWP8		ENST00000452271.2:c.14G>A	19.37:g.36019170C>T	ENSP00000430242:p.Arg5His					SBSN_uc002oae.2_Missense_Mutation_p.R5H|SBSN_uc021usp.1_Missense_Mutation_p.R5H	p.R5H	NM_001166034	NP_001159506	Q6UWP8	SBSN_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		0	84	-	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		5					A8K5J0|E9PBV3	Missense_Mutation	SNP	ENST00000452271.2	37	c.14G>A	CCDS54253.1	.	.	.	.	.	.	.	.	.	.	C	1.832	-0.469512	0.04445	0.0	1.16E-4	ENSG00000189001	ENST00000452271;ENST00000518157	T;T	0.44881	0.91;0.92	4.38	-6.86	0.01676	.	2.111040	0.02268	N	0.068156	T	0.19485	0.0468	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.11542	-1.0583	10	0.44086	T	0.13	.	3.5922	0.07993	0.1062:0.3275:0.3855:0.1809	.	5;5	Q6UWP8;E9PBV3	SBSN_HUMAN;.	H	5	ENSP00000430242:R5H;ENSP00000428771:R5H	ENSP00000430242:R5H	R	-	2	0	SBSN	40711010	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.866000	0.04245	-1.707000	0.01402	-1.164000	0.01763	CGT		0.587	SBSN-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109463.3	NM_198538	
FCGBP	8857	broad.mit.edu	37	19	40380305	40380305	+	Silent	SNP	G	G	A			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr19:40380305G>A	ENST00000221347.6	-	23	11017	c.11010C>T	c.(11008-11010)ttC>ttT	p.F3670F	FCGBP_ENST00000595713.1_5'Flank	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	3670	VWFD 9. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CCATGAAGTCGAAGCGGTGGC	0.672																																						uc002omp.4																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(11008-11010)ttC>ttT		Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.							85.0	101.0	97.0					19																	40380305		837	2803	3640	SO:0001819	synonymous_variant	8857					extracellular region	protein binding	g.chr19:40380305G>A	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.11010C>T	19.37:g.40380305G>A							p.F3670F	NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		22	11018	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		3670			VWFD 9.		O95784	Silent	SNP	ENST00000221347.6	37	c.11010C>T	CCDS12546.1																																																																																				0.672	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890	
PRX	57716	broad.mit.edu	37	19	40902798	40902798	+	Silent	SNP	C	C	T			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr19:40902798C>T	ENST00000324001.7	-	7	1731	c.1461G>A	c.(1459-1461)ccG>ccA	p.P487P	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	487	55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].				axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCCGCACCTCCGGCACAGCCA	0.597																																						uc002onr.3																			0		p.P487L(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47						c.(1459-1461)ccG>ccA		Homo sapiens periaxin (PRX), transcript variant 2, mRNA.							82.0	96.0	91.0					19																	40902798		2202	4295	6497	SO:0001819	synonymous_variant	57716				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding	g.chr19:40902798C>T	AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.1461G>A	19.37:g.40902798C>T						PRX_uc002onq.3_Silent_p.P348P|PRX_uc002ons.3_3'UTR	p.P487P	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		6	1730	-			487			55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].		Q9BXL9|Q9HCF2	Silent	SNP	ENST00000324001.7	37	c.1461G>A	CCDS33028.1																																																																																				0.597	PRX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462582.1	NM_020956	
ZNF816	125893	broad.mit.edu	37	19	53453300	53453300	+	Silent	SNP	T	T	C			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr19:53453300T>C	ENST00000357666.4	-	5	2028	c.1728A>G	c.(1726-1728)caA>caG	p.Q576Q	ZNF816_ENST00000434371.2_Intron|ZNF816_ENST00000444460.2_Silent_p.Q576Q|ZNF321P_ENST00000391777.3_Intron	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816	576					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						GGATTCCTTTTTGATTAAAAA	0.388																																						uc002qal.2																			0				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						c.(1726-1728)caA>caG		Homo sapiens zinc finger protein 816 (ZNF816), transcript variant 1, mRNA.							72.0	73.0	73.0					19																	53453300		2203	4300	6503	SO:0001819	synonymous_variant	125893				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53453300T>C	BC063805	CCDS33096.1	19q13.41	2013-01-08	2010-07-23	2010-07-23		ENSG00000180257		"""Zinc fingers, C2H2-type"", ""-"""	26995	protein-coding gene	gene with protein product			"""zinc finger protein 816A"""	ZNF816A			Standard	NM_001031665		Approved		uc002qam.2	Q0VGE8		ENST00000357666.4:c.1728A>G	19.37:g.53453300T>C						ZNF816_uc010eqj.3_Intron|ZNF816_uc002qak.2_Intron|ZNF816_uc021uzc.1_Silent_p.Q576Q|ZNF816_uc002qam.2_Silent_p.Q576Q	p.Q576Q	NM_001031665	NP_001189386	Q0VGE8	ZN816_HUMAN			4	2079	-			576					A8K7H5|Q3KR39|Q659B3	Silent	SNP	ENST00000357666.4	37	c.1728A>G	CCDS33096.1																																																																																				0.388	ZNF816-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396132.1	NM_001031665	
VRK2	7444	broad.mit.edu	37	2	58373508	58373508	+	Missense_Mutation	SNP	G	G	A	rs139700760		TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr2:58373508G>A	ENST00000435505.2	+	15	1826	c.1081G>A	c.(1081-1083)Gaa>Aaa	p.E361K	VRK2_ENST00000417641.2_Missense_Mutation_p.E361K|VRK2_ENST00000340157.4_Missense_Mutation_p.E361K|VRK2_ENST00000412104.2_Missense_Mutation_p.E361K|VRK2_ENST00000440705.2_Missense_Mutation_p.E338K			Q86Y07	VRK2_HUMAN	vaccinia related kinase 2	361					cellular response to oxidative stress (GO:0034599)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interleukin-1-mediated signaling pathway (GO:2000659)|regulation of MAPK cascade (GO:0043408)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(4)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	24						TAGGTTAATCGAAAAAAAAGT	0.383																																						uc002rzo.2																			0				endometrium(4)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	24						c.(1081-1083)Gaa>Aaa		Homo sapiens vaccinia related kinase 2 (VRK2), transcript variant 4, mRNA.		G	LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU	0,4406		0,0,2203	143.0	149.0	147.0		1081,1081,1012,1081,1081	2.8	0.0	2	dbSNP_134	147	2,8598		0,2,4298	no	missense,missense,missense,missense,missense	VRK2	NM_001130480.2,NM_001130481.2,NM_001130482.2,NM_001130483.2,NM_006296.5	56,56,56,56,56	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign,benign,benign,benign,benign	361/509,361/509,338/486,361/397,361/509	58373508	2,13004	2203	4300	6503	SO:0001583	missense	7444					integral to membrane	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr2:58373508G>A	AK058199	CCDS1859.1, CCDS46291.1, CCDS46292.1	2p16.1	2008-05-15			ENSG00000028116	ENSG00000028116			12719	protein-coding gene	gene with protein product		602169					Standard	NM_001130480		Approved		uc002rzv.3	Q86Y07	OTTHUMG00000129348	ENST00000435505.2:c.1081G>A	2.37:g.58373508G>A	ENSP00000408002:p.Glu361Lys					VRK2_uc010fcb.2_Missense_Mutation_p.E361K|VRK2_uc002rzt.3_Missense_Mutation_p.E243K|VRK2_uc002rzs.3_Missense_Mutation_p.E361K|VRK2_uc002rzv.3_Missense_Mutation_p.E361K|VRK2_uc010fcd.3_Missense_Mutation_p.E338K|VRK2_uc002rzu.3_Missense_Mutation_p.E361K|VRK2_uc010fcc.3_Missense_Mutation_p.E243K|VRK2_uc002rzp.3_Missense_Mutation_p.E361K|VRK2_uc010ypg.2_Missense_Mutation_p.E361K	p.E361K	NM_001130482	NP_001123954	Q86Y07	VRK2_HUMAN			14	1826	+			361					B4DKL0|D6W5D4|D6W5D6|Q49AK9|Q53EU9|Q53S39|Q53S77|Q53TU1|Q86Y08|Q86Y09|Q86Y10|Q86Y11|Q86Y12|Q8IXI5|Q99987	Missense_Mutation	SNP	ENST00000435505.2	37	c.1081G>A	CCDS1859.1	.	.	.	.	.	.	.	.	.	.	G	9.009	0.982014	0.18812	0.0	2.33E-4	ENSG00000028116	ENST00000435505;ENST00000417641;ENST00000412104;ENST00000340157;ENST00000394539;ENST00000440705	T;T;T;T;T	0.05319	3.46;3.65;3.65;3.46;3.46	5.61	2.8	0.32819	.	1.231270	0.05680	N	0.590236	T	0.05410	0.0143	L	0.29908	0.895	0.09310	N	1	B;B;B	0.13145	0.001;0.001;0.007	B;B;B	0.04013	0.001;0.001;0.001	T	0.47071	-0.9145	10	0.11182	T	0.66	-1.7494	6.7526	0.23495	0.1606:0.1435:0.6958:0.0	.	361;361;361	Q86Y07-2;Q86Y07-5;Q86Y07	.;.;VRK2_HUMAN	K	361;361;361;361;361;338	ENSP00000408002:E361K;ENSP00000402375:E361K;ENSP00000404156:E361K;ENSP00000342381:E361K;ENSP00000398323:E338K	ENSP00000342381:E361K	E	+	1	0	VRK2	58227012	0.014000	0.17966	0.000000	0.03702	0.016000	0.09150	2.274000	0.43390	0.426000	0.26116	-0.205000	0.12727	GAA		0.383	VRK2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325304.2	NM_006296	
RPN2	6185	broad.mit.edu	37	20	35835810	35835810	+	Silent	SNP	T	T	C			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr20:35835810T>C	ENST00000237530.6	+	7	1136	c.825T>C	c.(823-825)ccT>ccC	p.P275P	RPN2_ENST00000373622.5_Silent_p.P243P	NM_002951.3	NP_002942.2	P04844	RPN2_HUMAN	ribophorin II	275					aging (GO:0007568)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|gene expression (GO:0010467)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	autophagic vacuole membrane (GO:0000421)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|oligosaccharyltransferase complex (GO:0008250)|rough endoplasmic reticulum (GO:0005791)	ribosome binding (GO:0043022)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24		Myeloproliferative disorder(115;0.00878)				TGGTTGTGCCTGAGGGCTCTG	0.537																																						uc002xgp.3																			0		p.V274E(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24						c.(823-825)ccT>ccC		Homo sapiens ribophorin II (RPN2), transcript variant 1, mRNA.							177.0	155.0	163.0					20																	35835810		2203	4300	6503	SO:0001819	synonymous_variant	6185				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|nucleus|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding	g.chr20:35835810T>C	Y00282	CCDS13291.1, CCDS46599.1	20q12-q13.1	2013-03-06			ENSG00000118705	ENSG00000118705			10382	protein-coding gene	gene with protein product	"""oligosaccharyltransferase complex subunit (non-catalytic)"""	180490					Standard	NM_002951		Approved	SWP1, RPNII, RIBIIR, RPN-II	uc002xgp.3	P04844	OTTHUMG00000032409	ENST00000237530.6:c.825T>C	20.37:g.35835810T>C						RPN2_uc010gfw.2_Silent_p.P118P|RPN2_uc002xgq.3_Silent_p.P243P|RPN2_uc021wdb.1_Silent_p.P57P	p.P275P	NM_002951	NP_002942	P04844	RPN2_HUMAN			6	1129	+		Myeloproliferative disorder(115;0.00878)	275					Q5JYR6|Q6IBA5|Q96E21|Q9BUQ3|Q9UBE1	Silent	SNP	ENST00000237530.6	37	c.825T>C	CCDS13291.1																																																																																				0.537	RPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079076.2	NM_002951	
SLC13A3	64849	broad.mit.edu	37	20	45194937	45194937	+	Silent	SNP	G	G	A	rs147641404		TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr20:45194937G>A	ENST00000279027.4	-	11	1443	c.1425C>T	c.(1423-1425)atC>atT	p.I475I	SLC13A3_ENST00000435032.1_Silent_p.I60I|SLC13A3_ENST00000413164.2_Silent_p.I425I|SLC13A3_ENST00000495082.1_Silent_p.I428I|SLC13A3_ENST00000472148.1_Silent_p.I393I|SLC13A3_ENST00000396360.1_Silent_p.I393I|SLC13A3_ENST00000290317.5_Silent_p.I428I	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	475					transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	high-affinity sodium:dicarboxylate symporter activity (GO:0015362)			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	TGAAGAAGGCGATGACCACAG	0.617																																						uc002xsf.2																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1423-1425)atC>atT		Homo sapiens solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3 (SLC13A3), transcript variant 1, mRNA.	Succinic acid(DB00139)						112.0	112.0	112.0					20																	45194937		2203	4300	6503	SO:0001819	synonymous_variant	64849					integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity	g.chr20:45194937G>A	AF154121	CCDS13400.1, CCDS42886.1, CCDS54469.1, CCDS54470.1	20q13.12	2013-05-22			ENSG00000158296	ENSG00000158296		"""Solute carriers"""	14430	protein-coding gene	gene with protein product		606411				10794676, 10992006	Standard	NM_001011554		Approved	NADC3, SDCT2	uc002xsf.2	Q8WWT9	OTTHUMG00000033042	ENST00000279027.4:c.1425C>T	20.37:g.45194937G>A						SLC13A3_uc010ghn.2_Silent_p.I444I|SLC13A3_uc010zxx.2_Silent_p.I377I|SLC13A3_uc010zxw.2_Silent_p.I425I|SLC13A3_uc002xsg.2_Silent_p.I428I|SLC13A3_uc010gho.2_Silent_p.I393I|SLC13A3_uc002xse.2_5'Flank|SLC13A3_uc010ghm.2_Silent_p.I62I|SLC13A3_uc010zxv.2_Silent_p.I60I	p.I475I	NM_022829	NP_073740	Q8WWT9	S13A3_HUMAN			10	1465	-		Myeloproliferative disorder(115;0.0122)	475					B4DIR8|E1P5U4|F6WI18|Q5JYC9|Q5JYD0|Q5JYD1|Q5TCQ2|Q8IVB1|Q8N8K4|Q96MM5|Q9BR25|Q9H1G1|Q9H3W4|Q9NQN5|Q9NS04	Silent	SNP	ENST00000279027.4	37	c.1425C>T	CCDS13400.1																																																																																				0.617	SLC13A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080329.2		
KCNG1	3755	broad.mit.edu	37	20	49626233	49626233	+	Missense_Mutation	SNP	C	C	G			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr20:49626233C>G	ENST00000371571.4	-	2	928	c.643G>C	c.(643-645)Gac>Cac	p.D215H	RP5-955M13.4_ENST00000424566.1_RNA|KCNG1_ENST00000506387.1_5'Flank|KCNG1_ENST00000396017.3_Missense_Mutation_p.D215H	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G, member 1	215					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						TCCACCATGTCGCGCAGTCGC	0.726																																						uc002xwa.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(643-645)Gac>Cac		Homo sapiens potassium voltage-gated channel, subfamily G, member 1 (KCNG1), mRNA.							17.0	19.0	18.0					20																	49626233		2200	4294	6494	SO:0001583	missense	3755					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr20:49626233C>G	AF033383	CCDS13436.1	20q13	2011-07-05			ENSG00000026559	ENSG00000026559		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6248	protein-coding gene	gene with protein product		603788		KCNG		9434767, 16382104	Standard	NM_002237		Approved	Kv6.1, kH2, K13	uc002xwa.4	Q9UIX4	OTTHUMG00000032745	ENST00000371571.4:c.643G>C	20.37:g.49626233C>G	ENSP00000360626:p.Asp215His					KCNG1_uc002xwb.3_Missense_Mutation_p.D215H	p.D215H	NM_002237	NP_002228	Q9UIX4	KCNG1_HUMAN			1	938	-			215					A8K3S4|O43528|Q5JXL5|Q9BRC1	Missense_Mutation	SNP	ENST00000371571.4	37	c.643G>C	CCDS13436.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.953438	0.92660	.	.	ENSG00000026559	ENST00000371571;ENST00000396017;ENST00000439216	D;D;D	0.97959	-4.63;-2.7;-3.28	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.98953	0.9644	M	0.88775	2.98	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.965	D	0.99395	1.0926	9	.	.	.	.	19.7261	0.96164	0.0:1.0:0.0:0.0	.	215;215	Q9UIX4-2;Q9UIX4	.;KCNG1_HUMAN	H	215	ENSP00000360626:D215H;ENSP00000379338:D215H;ENSP00000394075:D215H	.	D	-	1	0	KCNG1	49059640	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.999000	0.70665	2.667000	0.90743	0.561000	0.74099	GAC		0.726	KCNG1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079726.4	NM_002237	
COL6A2	1292	broad.mit.edu	37	21	47532419	47532419	+	Silent	SNP	C	C	T			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr21:47532419C>T	ENST00000300527.4	+	3	746	c.642C>T	c.(640-642)aaC>aaT	p.N214N	COL6A2_ENST00000460886.1_3'UTR|COL6A2_ENST00000409416.1_Silent_p.N214N|COL6A2_ENST00000397763.1_Silent_p.N214N|COL6A2_ENST00000310645.5_Silent_p.N214N|COL6A2_ENST00000357838.4_Silent_p.N214N	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	214	Nonhelical region.|VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		TCTACCGCAACGACTACGCCA	0.667																																						uc002zia.1																			0				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43						c.(640-642)aaC>aaT		Homo sapiens collagen, type VI, alpha 2 (COL6A2), transcript variant 2C2, mRNA.							26.0	34.0	31.0					21																	47532419		2199	4294	6493	SO:0001819	synonymous_variant	1292				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging	g.chr21:47532419C>T	M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"""Collagens"""	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.642C>T	21.37:g.47532419C>T						COL6A2_uc002zhz.1_Silent_p.N214N|COL6A2_uc002zhy.1_Silent_p.N214N	p.N214N	NM_001849	NP_001840	P12110	CO6A2_HUMAN		Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)	2	724	+	Breast(49;0.245)		214			Nonhelical region.|VWFA 1.		Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Silent	SNP	ENST00000300527.4	37	c.642C>T	CCDS13728.1																																																																																				0.667	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1		
CBLB	868	broad.mit.edu	37	3	105400636	105400636	+	Missense_Mutation	SNP	A	A	G			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr3:105400636A>G	ENST00000264122.4	-	15	2549	c.2228T>C	c.(2227-2229)cTg>cCg	p.L743P	CBLB_ENST00000394027.3_Missense_Mutation_p.L765P|CBLB_ENST00000403724.1_Missense_Mutation_p.L743P|CBLB_ENST00000405772.1_Missense_Mutation_p.L743P|CBLB_ENST00000407712.1_Missense_Mutation_p.L2P	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	743	Pro-rich.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|negative regulation of T cell receptor signaling pathway (GO:0050860)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of T cell anergy (GO:0002669)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						TGTTCCATTCAGCATACAGTG	0.343			Mis S		AML																																GBM(93;588 1337 9788 29341 43499)	uc003dwc.3				Rec	yes		3	3q13.11	868	Mis S	Cas-Br-M (murine) ecotropic retroviral transforming sequence b			L			AML		0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						c.(2227-2229)cTg>cCg		Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence b (CBLB), mRNA.							83.0	84.0	84.0					3																	105400636		2203	4300	6503	SO:0001583	missense	868				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding	g.chr3:105400636A>G	U26710	CCDS2948.1	3q	2013-07-09	2013-07-09		ENSG00000114423	ENSG00000114423		"""RING-type (C3HC4) zinc fingers"""	1542	protein-coding gene	gene with protein product		604491	"""Cas-Br-M (murine) ectropic retroviral transforming sequence b"", ""Cas-Br-M (murine) ecotropic retroviral transforming sequence b"""			7784085	Standard	XM_005247853		Approved	RNF56, Cbl-b	uc003dwc.3	Q13191	OTTHUMG00000150654	ENST00000264122.4:c.2228T>C	3.37:g.105400636A>G	ENSP00000264122:p.Leu743Pro					CBLB_uc003dwa.3_Missense_Mutation_p.L2P|CBLB_uc011bhi.2_Missense_Mutation_p.L765P|CBLB_uc003dwd.2_Missense_Mutation_p.L743P|CBLB_uc003dwe.2_Missense_Mutation_p.L743P	p.L743P	NM_170662	NP_733762	Q13191	CBLB_HUMAN			14	2550	-			743			Pro-rich.		A8K9S7|B7WNM4|Q13192|Q13193|Q3LIC0|Q63Z43|Q8IVC5	Missense_Mutation	SNP	ENST00000264122.4	37	c.2228T>C	CCDS2948.1	.	.	.	.	.	.	.	.	.	.	A	12.17	1.857944	0.32791	.	.	ENSG00000114423	ENST00000394030;ENST00000264122;ENST00000407712;ENST00000394027;ENST00000403724;ENST00000405772	T;D;T;D;D;D	0.84730	-1.24;-1.87;-1.34;-1.89;-1.86;-1.89	5.96	4.82	0.62117	.	0.473553	0.21933	N	0.066990	T	0.72503	0.3468	N	0.22421	0.69	0.80722	D	1	B;P;B;B	0.35656	0.38;0.514;0.412;0.214	B;B;B;B	0.31686	0.102;0.134;0.062;0.102	T	0.74515	-0.3640	10	0.87932	D	0	-9.6427	7.0993	0.25327	0.7954:0.0:0.2046:0.0	.	765;743;743;765	E7ENW2;Q13191-3;Q13191;B4DYP3	.;.;CBLB_HUMAN;.	P	126;743;2;765;743;743	ENSP00000377598:L126P;ENSP00000264122:L743P;ENSP00000384170:L2P;ENSP00000377595:L765P;ENSP00000384816:L743P;ENSP00000384938:L743P	ENSP00000264122:L743P	L	-	2	0	CBLB	106883326	0.085000	0.21516	0.943000	0.38184	0.937000	0.57800	1.832000	0.39151	2.274000	0.75844	0.477000	0.44152	CTG		0.343	CBLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319417.2	NM_170662	
PHLDB2	90102	broad.mit.edu	37	3	111632481	111632481	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr3:111632481C>T	ENST00000431670.2	+	3	2062	c.1651C>T	c.(1651-1653)Cct>Tct	p.P551S	PHLDB2_ENST00000481953.1_Missense_Mutation_p.P551S|PHLDB2_ENST00000477695.1_Missense_Mutation_p.P551S|PHLDB2_ENST00000495180.1_Missense_Mutation_p.P137S|PHLDB2_ENST00000393925.3_Missense_Mutation_p.P551S|PHLDB2_ENST00000412622.1_Missense_Mutation_p.P551S|PHLDB2_ENST00000393923.3_Missense_Mutation_p.P578S	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	551						cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						CACCCGGACTCCTCCACCACC	0.512																																						uc010hqa.3																			0				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						c.(1651-1653)Cct>Tct		Homo sapiens pleckstrin homology-like domain, family B, member 2 (PHLDB2), transcript variant 1, mRNA.							162.0	173.0	169.0					3																	111632481		2203	4300	6503	SO:0001583	missense	90102					cytoplasm|intermediate filament cytoskeleton|plasma membrane		g.chr3:111632481C>T		CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824		"""Pleckstrin homology (PH) domain containing"""	29573	protein-coding gene	gene with protein product		610298				12376540	Standard	NM_145753		Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.1651C>T	3.37:g.111632481C>T	ENSP00000405405:p.Pro551Ser					PHLDB2_uc003dyc.3_Missense_Mutation_p.P578S|PHLDB2_uc003dyd.3_Missense_Mutation_p.P551S|PHLDB2_uc003dyg.3_Missense_Mutation_p.P551S|PHLDB2_uc003dyh.3_Missense_Mutation_p.P551S|PHLDB2_uc003dyi.3_Missense_Mutation_p.P137S|PHLDB2_uc003dyf.4_Missense_Mutation_p.P551S	p.P551S	NM_001134438	NP_001127911	Q86SQ0	PHLB2_HUMAN			2	2062	+			551					A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Missense_Mutation	SNP	ENST00000431670.2	37	c.1651C>T	CCDS46886.1	.	.	.	.	.	.	.	.	.	.	C	2.283	-0.364178	0.05103	.	.	ENSG00000144824	ENST00000359729;ENST00000393923;ENST00000431670;ENST00000412622;ENST00000498699;ENST00000477695;ENST00000393925;ENST00000481953;ENST00000495180	T;T;T;T;T;T;T	0.32988	1.43;1.5;1.44;1.44;1.5;1.44;1.47	5.48	4.54	0.55810	.	0.595857	0.18227	N	0.147684	T	0.22126	0.0533	L	0.40543	1.245	0.09310	N	1	B;B;B;B;B	0.16802	0.0;0.0;0.019;0.0;0.005	B;B;B;B;B	0.15484	0.001;0.001;0.013;0.003;0.004	T	0.21484	-1.0244	10	0.18276	T	0.48	.	7.5091	0.27562	0.0:0.7857:0.0:0.2143	.	137;551;551;551;578	E9PGF6;Q86SQ0;G5E9V3;Q86SQ0-2;Q86SQ0-3	.;PHLB2_HUMAN;.;.;.	S	578;578;551;551;551;551;551;551;137	ENSP00000377500:P578S;ENSP00000405405:P551S;ENSP00000405292:P551S;ENSP00000418296:P551S;ENSP00000377502:P551S;ENSP00000418319:P551S;ENSP00000420303:P137S	ENSP00000352764:P578S	P	+	1	0	PHLDB2	113115171	0.002000	0.14202	0.014000	0.15608	0.116000	0.19942	0.129000	0.15830	1.164000	0.42652	0.555000	0.69702	CCT		0.512	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354337.1	NM_145753	
EFCC1	79825	broad.mit.edu	37	3	128757682	128757682	+	Silent	SNP	G	G	A	rs575259155		TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr3:128757682G>A	ENST00000480450.1	+	7	1599	c.1599G>A	c.(1597-1599)tcG>tcA	p.S533S	EFCC1_ENST00000436022.2_Silent_p.S96S			Q9HA90	EFCC1_HUMAN	EF-hand and coiled-coil domain containing 1	533							calcium ion binding (GO:0005509)										AGAACATATCGAAAAGAGCCC	0.552													G|||	1	0.000199681	0.0	0.0	5008	,	,		17028	0.001		0.0	False		,,,				2504	0.0					uc011bkt.2																			0				breast(1)|kidney(2)|lung(2)|skin(1)	6						c.(1597-1599)tcG>tcA		Homo sapiens coiled-coil domain containing 48 (CCDC48), mRNA.							91.0	101.0	97.0					3																	128757682		2203	4300	6503	SO:0001819	synonymous_variant	79825							g.chr3:128757682G>A	AK022119	CCDS3054.1, CCDS3054.2	3q21.3	2013-01-11	2013-01-11	2013-01-11	ENSG00000114654	ENSG00000114654		"""EF-hand domain containing"""	25692	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 73"", ""coiled-coil domain containing 48"""	C3orf73, CCDC48			Standard	NM_024768		Approved	FLJ12057	uc011bkt.2	Q9HA90	OTTHUMG00000158996	ENST00000480450.1:c.1599G>A	3.37:g.128757682G>A							p.S533S	NM_024768	NP_079044	Q9HA90	CCD48_HUMAN			6	1599	+			533					A8MYE2	Silent	SNP	ENST00000480450.1	37	c.1599G>A	CCDS3054.2																																																																																				0.552	EFCC1-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352832.1	NM_024768	
NRROS	375387	broad.mit.edu	37	3	196388089	196388089	+	Silent	SNP	C	C	T			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr3:196388089C>T	ENST00000328557.4	+	3	1778	c.1575C>T	c.(1573-1575)tcC>tcT	p.S525S		NM_198565.1	NP_940967.1	Q86YC3	NRROS_HUMAN	negative regulator of reactive oxygen species	525					immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|superoxide metabolic process (GO:0006801)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)											GCCTCCACTCCAGCTTTATGG	0.567																																						uc003fwv.3																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(17)|ovary(3)|prostate(3)	40						c.(1573-1575)tcC>tcT		Homo sapiens leucine rich repeat containing 33 (LRRC33), mRNA.							123.0	121.0	122.0					3																	196388089		2203	4300	6503	SO:0001819	synonymous_variant	375387					integral to membrane		g.chr3:196388089C>T	AY358322	CCDS3319.1	3q29	2013-07-02	2013-07-02	2013-07-02	ENSG00000174004	ENSG00000174004			24613	protein-coding gene	gene with protein product		615322	"""leucine rich repeat containing 33"""	LRRC33		12975309	Standard	NM_198565		Approved	UNQ3030, ELLP3030, MGC50789, GARPL1	uc003fwv.3	Q86YC3	OTTHUMG00000155569	ENST00000328557.4:c.1575C>T	3.37:g.196388089C>T							p.S525S	NM_198565	NP_940967	Q86YC3	LRC33_HUMAN	Epithelial(36;1.9e-23)|all cancers(36;1.76e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)	2	1679	+	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		525						Silent	SNP	ENST00000328557.4	37	c.1575C>T	CCDS3319.1																																																																																				0.567	NRROS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340676.1	NM_198565	
FGFBP2	83888	broad.mit.edu	37	4	15964315	15964315	+	Silent	SNP	C	C	T			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr4:15964315C>T	ENST00000259989.6	-	1	544	c.438G>A	c.(436-438)ggG>ggA	p.G146G	FGFBP2_ENST00000509331.1_Intron	NM_031950.3	NP_114156.1	Q9BYJ0	FGFP2_HUMAN	fibroblast growth factor binding protein 2	146						extracellular region (GO:0005576)				central_nervous_system(1)|lung(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	9						GAGATGGCGTCCCAGCCTCAG	0.617																																						uc003gon.3																			0				central_nervous_system(1)|lung(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	9						c.(436-438)ggG>ggA		Homo sapiens fibroblast growth factor binding protein 2 (FGFBP2), mRNA.							91.0	84.0	86.0					4																	15964315		2203	4300	6503	SO:0001819	synonymous_variant	83888					extracellular space	growth factor binding	g.chr4:15964315C>T	AB021123	CCDS3419.1	4p15.32	2008-07-16			ENSG00000137441	ENSG00000137441			29451	protein-coding gene	gene with protein product	"""killer-specific secretory protein of 37 kDa"""	607713				11342666, 12322897	Standard	NM_031950		Approved	KSP37	uc003gon.3	Q9BYJ0	OTTHUMG00000128513	ENST00000259989.6:c.438G>A	4.37:g.15964315C>T						FGFBP2_uc021xmm.1_Silent_p.G146G	p.G146G	NM_031950	NP_114156	Q9BYJ0	FGFP2_HUMAN			0	545	-			146						Silent	SNP	ENST00000259989.6	37	c.438G>A	CCDS3419.1																																																																																				0.617	FGFBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250324.1	NM_031950	
STAP1	26228	broad.mit.edu	37	4	68449405	68449405	+	Missense_Mutation	SNP	T	T	C			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr4:68449405T>C	ENST00000265404.2	+	6	726	c.644T>C	c.(643-645)aTt>aCt	p.I215T	STAP1_ENST00000396225.1_Missense_Mutation_p.I215T	NM_012108.2	NP_036240.1	Q9ULZ2	STAP1_HUMAN	signal transducing adaptor family member 1	215	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)				NS(1)|large_intestine(1)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	12						TCCATCACTATTCGGCAGGAG	0.408																																						uc003hde.4																			0				NS(1)|large_intestine(1)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	12						c.(643-645)aTt>aCt		Homo sapiens signal transducing adaptor family member 1 (STAP1), mRNA.							63.0	62.0	62.0					4																	68449405		2203	4300	6503	SO:0001583	missense	26228				cellular membrane fusion|intracellular protein transport	cytoplasm		g.chr4:68449405T>C	AB023483	CCDS3515.1	4q13.2	2013-02-14	2007-08-09		ENSG00000035720	ENSG00000035720		"""SH2 domain containing"""	24133	protein-coding gene	gene with protein product	"""BCR downstream signaling 1"""	604298				10518561, 10679268	Standard	NM_012108		Approved	STAP-1, BRDG1	uc003hde.4	Q9ULZ2	OTTHUMG00000129304	ENST00000265404.2:c.644T>C	4.37:g.68449405T>C	ENSP00000265404:p.Ile215Thr					STAP1_uc003hdf.3_Missense_Mutation_p.I215T	p.I215T	NM_012108	NP_036240	Q9ULZ2	STAP1_HUMAN			5	726	+			215			SH2.		B2R980	Missense_Mutation	SNP	ENST00000265404.2	37	c.644T>C	CCDS3515.1	.	.	.	.	.	.	.	.	.	.	T	10.04	1.241761	0.22711	.	.	ENSG00000035720	ENST00000265404;ENST00000396225	D;D	0.88741	-2.42;-2.42	5.73	5.73	0.89815	SH2 motif (4);	0.114234	0.64402	D	0.000017	D	0.86372	0.5917	N	0.17082	0.46	0.45427	D	0.998404	D	0.64830	0.994	D	0.64595	0.927	T	0.82307	-0.0522	10	0.05833	T	0.94	-9.1558	12.4071	0.55445	0.0:0.0:0.0:1.0	.	215	Q9ULZ2	STAP1_HUMAN	T	215	ENSP00000265404:I215T;ENSP00000379527:I215T	ENSP00000265404:I215T	I	+	2	0	STAP1	68132000	1.000000	0.71417	0.997000	0.53966	0.918000	0.54935	4.462000	0.60121	2.180000	0.69256	0.533000	0.62120	ATT		0.408	STAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251434.1	NM_012108	
PDHA2	5161	broad.mit.edu	37	4	96761326	96761326	+	Missense_Mutation	SNP	G	G	A	rs550119402		TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr4:96761326G>A	ENST00000295266.4	+	1	88	c.25G>A	c.(25-27)Gtg>Atg	p.V9M		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	9					glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)		CATCTCCCGCGTGTTGAGGCG	0.557													G|||	1	0.000199681	0.0	0.0	5008	,	,		19720	0.0		0.0	False		,,,				2504	0.001					uc003htr.4																			0		p.R8R(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46						c.(25-27)Gtg>Atg		Homo sapiens pyruvate dehydrogenase (lipoamide) alpha 2 (PDHA2), mRNA.	NADH(DB00157)						46.0	45.0	45.0					4																	96761326		2203	4300	6503	SO:0001583	missense	5161				glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity	g.chr4:96761326G>A		CCDS3644.1	4q22-q23	2009-11-09			ENSG00000163114	ENSG00000163114	1.2.4.1		8807	protein-coding gene	gene with protein product		179061		PDHAL			Standard	NM_005390		Approved		uc003htr.4	P29803	OTTHUMG00000130990	ENST00000295266.4:c.25G>A	4.37:g.96761326G>A	ENSP00000295266:p.Val9Met						p.V9M	NM_005390	NP_005381	P29803	ODPAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	0	88	+		Hepatocellular(203;0.114)	9					B2R9Q3|Q0VDI5|Q4VC02|Q6NXQ1	Missense_Mutation	SNP	ENST00000295266.4	37	c.25G>A	CCDS3644.1	.	.	.	.	.	.	.	.	.	.	G	12.24	1.877214	0.33162	.	.	ENSG00000163114	ENST00000295266	D	0.97710	-4.5	4.17	3.32	0.38043	.	0.205323	0.41194	D	0.000924	D	0.95787	0.8629	M	0.65320	2	0.20307	N	0.999919	B	0.26876	0.162	B	0.29267	0.1	D	0.90986	0.4831	10	0.42905	T	0.14	-5.7102	10.0747	0.42353	0.0:0.204:0.796:0.0	.	9	P29803	ODPAT_HUMAN	M	9	ENSP00000295266:V9M	ENSP00000295266:V9M	V	+	1	0	PDHA2	96980349	0.641000	0.27251	0.235000	0.24058	0.041000	0.13682	0.753000	0.26376	1.320000	0.45209	0.467000	0.42956	GTG		0.557	PDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253608.1		
EGF	1950	broad.mit.edu	37	4	110908980	110908980	+	Silent	SNP	T	T	C			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr4:110908980T>C	ENST00000265171.5	+	17	3017	c.2572T>C	c.(2572-2574)Ttg>Ctg	p.L858L	EGF_ENST00000509793.1_Silent_p.L816L|EGF_ENST00000503392.1_Silent_p.L858L	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	858	EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}.				activation of MAPKK activity (GO:0000186)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|DNA replication (GO:0006260)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mammary gland alveolus development (GO:0060749)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of secretion (GO:0051048)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)|positive regulation of DNA binding (GO:0043388)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of calcium ion import (GO:0090279)|regulation of protein localization to cell surface (GO:2000008)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sucralfate(DB00364)	ATGTCAGTGTTTGAAAGGATT	0.423																																						uc003hzy.4																			0				breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(2572-2574)Ttg>Ctg		Homo sapiens epidermal growth factor (EGF), transcript variant 1, mRNA.	Sulindac(DB00605)						164.0	149.0	154.0					4																	110908980		2203	4300	6503	SO:0001819	synonymous_variant	1950				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr4:110908980T>C	X04571	CCDS3689.1, CCDS54794.1, CCDS54795.1	4q25	2012-10-02	2010-05-11		ENSG00000138798	ENSG00000138798			3229	protein-coding gene	gene with protein product		131530	"""epidermal growth factor (beta-urogastrone)"""				Standard	NM_001963		Approved		uc003hzy.4	P01133	OTTHUMG00000132044	ENST00000265171.5:c.2572T>C	4.37:g.110908980T>C						EGF_uc011cfu.2_Silent_p.L816L|EGF_uc011cfv.2_Silent_p.L858L|EGF_uc010imk.3_Intron	p.L858L	NM_001963	NP_001954	P01133	EGF_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	16	3024	+		Hepatocellular(203;0.0893)	858			EGF-like 6.		B4DRK7|E7EVD2|E9PBF0|Q52LZ6	Silent	SNP	ENST00000265171.5	37	c.2572T>C	CCDS3689.1																																																																																				0.423	EGF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255065.1		
SLC6A19	340024	broad.mit.edu	37	5	1217004	1217004	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr5:1217004G>A	ENST00000304460.10	+	8	1173	c.1117G>A	c.(1117-1119)Gcg>Acg	p.A373T		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	373					amino acid transport (GO:0006865)|ion transport (GO:0006811)|response to nutrient (GO:0007584)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|neutral amino acid transmembrane transporter activity (GO:0015175)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CTCCGACCCCGCGGCCTACGC	0.622																																						uc003jbw.4																			0		p.P372P(1)|p.A373V(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44						c.(1117-1119)Gcg>Acg		Homo sapiens solute carrier family 6 (neutral amino acid transporter), member 19 (SLC6A19), mRNA.							159.0	150.0	153.0					5																	1217004		2203	4300	6503	SO:0001583	missense	340024				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr5:1217004G>A	AK096054	CCDS34130.1	5p15	2013-07-19			ENSG00000174358	ENSG00000174358		"""Solute carriers"""	27960	protein-coding gene	gene with protein product	"""Hartnup disease"""	608893					Standard	NM_001003841		Approved		uc003jbw.4	Q695T7	OTTHUMG00000161636	ENST00000304460.10:c.1117G>A	5.37:g.1217004G>A	ENSP00000305302:p.Ala373Thr						p.A373T	NM_001003841	NP_001003841	Q695T7	S6A19_HUMAN	Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		7	1173	+	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		373					A8K446	Missense_Mutation	SNP	ENST00000304460.10	37	c.1117G>A	CCDS34130.1	.	.	.	.	.	.	.	.	.	.	g	9.005	0.980984	0.18812	.	.	ENSG00000174358	ENST00000304460	T	0.74002	-0.8	4.85	-1.39	0.08997	.	1.876320	0.02993	N	0.147070	T	0.57125	0.2032	N	0.19112	0.55	0.09310	N	1	B	0.10296	0.003	B	0.13407	0.009	T	0.32241	-0.9914	10	0.15952	T	0.53	.	5.7985	0.18399	0.3593:0.1242:0.5164:0.0	.	373	Q695T7	S6A19_HUMAN	T	373	ENSP00000305302:A373T	ENSP00000305302:A373T	A	+	1	0	SLC6A19	1270004	0.000000	0.05858	0.004000	0.12327	0.007000	0.05969	0.209000	0.17435	-0.747000	0.04759	-1.667000	0.00748	GCG		0.622	SLC6A19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365557.1	XM_291120	
PIK3R1	5295	broad.mit.edu	37	5	67591086	67591086	+	Missense_Mutation	SNP	A	A	G			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr5:67591086A>G	ENST00000521381.1	+	13	2295	c.1679A>G	c.(1678-1680)gAc>gGc	p.D560G	PIK3R1_ENST00000320694.8_Missense_Mutation_p.D260G|PIK3R1_ENST00000521657.1_Missense_Mutation_p.D560G|PIK3R1_ENST00000274335.5_Missense_Mutation_p.D560G|PIK3R1_ENST00000523872.1_Missense_Mutation_p.D197G|PIK3R1_ENST00000396611.1_Missense_Mutation_p.D560G|PIK3R1_ENST00000336483.5_Missense_Mutation_p.D290G	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	560					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|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)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.D560_S565del(1)|p.R557_K561>Q(1)|p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	CGAGAAATTGACAAACGTATG	0.358			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)																												uc003jva.3				Rec	yes		5	5q13.1	5295	"""Mis, F, O"""	"""phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"""			"""E, O"""			"""gliobastoma, ovarian, colorectal"""		4	Whole gene deletion(1)|Complex - deletion inframe(1)|Deletion - In frame(1)|Unknown(1)	p.D560_S565del(2)|p.R557_K561>Q(2)|p.0?(1)|p.?(1)|p.D560H(1)|p.R557_D560del(1)|p.I559V(1)|p.D560Y(1)	large_intestine(1)|lung(1)|central_nervous_system(1)|endometrium(1)	breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178						c.(1678-1680)gAc>gGc		Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	Isoproterenol(DB01064)						141.0	140.0	141.0					5																	67591086		2203	4300	6503	SO:0001583	missense	5295				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	g.chr5:67591086A>G	M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"""SH2 domain containing"""	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.1679A>G	5.37:g.67591086A>G	ENSP00000428056:p.Asp560Gly	TCGA GBM(4;<1E-08)				PIK3R1_uc003jvc.3_Missense_Mutation_p.D260G|PIK3R1_uc003jvd.3_Missense_Mutation_p.D290G|PIK3R1_uc003jve.3_Missense_Mutation_p.D239G|PIK3R1_uc021xzn.1_Missense_Mutation_p.D197G|PIK3R1_uc011crb.2_Missense_Mutation_p.D230G	p.D560G	NM_181523	NP_852664	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	12	2259	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	560					B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Missense_Mutation	SNP	ENST00000521381.1	37	c.1679A>G	CCDS3993.1	.	.	.	.	.	.	.	.	.	.	A	26.3	4.725189	0.89298	.	.	ENSG00000145675	ENST00000521381;ENST00000521657;ENST00000396611;ENST00000274335;ENST00000320694;ENST00000336483;ENST00000523872	T;T;T;T;T;T;T	0.35048	1.33;1.33;1.33;1.33;1.33;1.33;1.33	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.60689	0.2288	M	0.84683	2.71	0.80722	D	1	D;P;P;D	0.64830	0.982;0.836;0.836;0.994	P;P;P;P	0.60949	0.801;0.783;0.676;0.881	T	0.66701	-0.5857	10	0.52906	T	0.07	-30.0341	15.2043	0.73165	1.0:0.0:0.0:0.0	.	230;290;260;560	B7Z2N8;P27986-2;P27986-3;P27986	.;.;.;P85A_HUMAN	G	560;560;560;560;260;290;197	ENSP00000428056:D560G;ENSP00000429277:D560G;ENSP00000379855:D560G;ENSP00000274335:D560G;ENSP00000323512:D260G;ENSP00000338554:D290G;ENSP00000430098:D197G	ENSP00000274335:D560G	D	+	2	0	PIK3R1	67626842	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.087000	0.94110	2.238000	0.73509	0.477000	0.44152	GAC		0.358	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504	
GRIA1	2890	broad.mit.edu	37	5	153065877	153065877	+	Silent	SNP	C	C	T	rs140876127		TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr5:153065877C>T	ENST00000285900.5	+	8	1465	c.1122C>T	c.(1120-1122)gaC>gaT	p.D374D	GRIA1_ENST00000521843.2_Silent_p.D305D|GRIA1_ENST00000518142.1_Silent_p.D294D|GRIA1_ENST00000340592.5_Silent_p.D374D|GRIA1_ENST00000518783.1_Silent_p.D384D|GRIA1_ENST00000448073.4_Silent_p.D384D	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	374					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)	p.D374D(2)		NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	TGAAACATGACGGCATCCGAA	0.502													C|||	1	0.000199681	0.0	0.0	5008	,	,		17294	0.001		0.0	False		,,,				2504	0.0					uc011dcy.2																			2	Substitution - coding silent(2)	p.D374D(2)	large_intestine(2)	NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81						c.(1150-1152)gaC>gaT		Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA.	Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	C	,	0,4406		0,0,2203	116.0	104.0	108.0		1122,1122	-10.5	0.8	5	dbSNP_134	108	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	GRIA1	NM_000827.3,NM_001114183.1	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	374/907,374/907	153065877	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2890				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	g.chr5:153065877C>T		CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.1122C>T	5.37:g.153065877C>T						GRIA1_uc003lva.4_Silent_p.D374D|GRIA1_uc003luy.4_Silent_p.D374D|GRIA1_uc003luz.4_Silent_p.D279D|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Silent_p.D294D|GRIA1_uc011dcx.2_Silent_p.D305D|GRIA1_uc011dcz.2_Silent_p.D384D|GRIA1_uc010jia.1_Silent_p.D354D	p.D384D	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		7	1179	+		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	374					B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Silent	SNP	ENST00000285900.5	37	c.1152C>T	CCDS4322.1																																																																																				0.502	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3		
FLT4	2324	broad.mit.edu	37	5	180048603	180048603	+	Silent	SNP	G	G	A	rs373635248		TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr5:180048603G>A	ENST00000261937.6	-	13	2037	c.1959C>T	c.(1957-1959)tgC>tgT	p.C653C	FLT4_ENST00000393347.3_Silent_p.C653C|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Silent_p.C653C	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	653	Ig-like C2-type 6.				blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTTGCACTTCGCACACATAGT	0.697																																					Colon(97;1075 1466 27033 27547 35871)	uc003mlz.4																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(1957-1959)tgC>tgT		Homo sapiens fms-related tyrosine kinase 4 (FLT4), transcript variant 1, mRNA.	Sorafenib(DB00398)|Sunitinib(DB01268)	G	,	1,4403	2.1+/-5.4	0,1,2201	32.0	30.0	31.0		1959,1959	2.3	1.0	5		31	0,8592		0,0,4296	no	coding-synonymous,coding-synonymous	FLT4	NM_002020.4,NM_182925.4	,	0,1,6497	AA,AG,GG		0.0,0.0227,0.0077	,	653/1299,653/1364	180048603	1,12995	2202	4296	6498	SO:0001819	synonymous_variant	2324				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	g.chr5:180048603G>A	X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.1959C>T	5.37:g.180048603G>A						FLT4_uc003mma.4_Silent_p.C653C|FLT4_uc003mmb.1_Silent_p.C186C|FLT4_uc011dgy.2_Silent_p.C653C	p.C653C	NM_182925	NP_891555	P35916	VGFR3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	12	2038	-	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	653			Ig-like C2-type 6.		A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Silent	SNP	ENST00000261937.6	37	c.1959C>T	CCDS4457.1																																																																																				0.697	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4		
IRF4	3662	broad.mit.edu	37	6	397159	397159	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr6:397159G>A	ENST00000380956.4	+	5	670	c.544G>A	c.(544-546)Gtc>Atc	p.V182I	IRF4_ENST00000495137.1_3'UTR	NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN	interferon regulatory factor 4	182					cytokine-mediated signaling pathway (GO:0019221)|defense response to protozoan (GO:0042832)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|interferon-gamma-mediated signaling pathway (GO:0060333)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of DNA binding (GO:0043388)|positive regulation of interleukin-10 biosynthetic process (GO:0045082)|positive regulation of interleukin-13 biosynthetic process (GO:0045368)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 biosynthetic process (GO:0045404)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of T-helper cell differentiation (GO:0045622)|T cell activation (GO:0042110)|T-helper 17 cell lineage commitment (GO:0072540)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear nucleosome (GO:0000788)|nucleus (GO:0005634)	protein-lysine N-methyltransferase activity (GO:0016279)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		GAGGGACTACGTCCCGGATCA	0.567			T	IGH@	MM																																	uc003msz.4				Dom	yes		6	6p25-p23	3662	T	interferon regulatory factor 4			L	IGH@		MM		0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5						c.(544-546)Gtc>Atc		Homo sapiens interferon regulatory factor 4 (IRF4), transcript variant 1, mRNA.							112.0	115.0	114.0					6																	397159		2203	4300	6503	SO:0001583	missense	3662				interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway	cytoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr6:397159G>A	U52682	CCDS4469.1	6p25-p23	2008-08-29			ENSG00000137265	ENSG00000137265			6119	protein-coding gene	gene with protein product		601900		MUM1		8921401, 18417578	Standard	NM_002460		Approved	LSIRF	uc003msz.4	Q15306	OTTHUMG00000016294	ENST00000380956.4:c.544G>A	6.37:g.397159G>A	ENSP00000370343:p.Val182Ile					IRF4_uc010jne.2_Missense_Mutation_p.V182I|IRF4_uc003mtb.4_Missense_Mutation_p.V181I|IRF4_uc021ykl.1_Missense_Mutation_p.V28I|IRF4_uc003mta.4_Non-coding_Transcript|IRF4_uc003mtc.1_Missense_Mutation_p.V12I	p.V182I	NM_002460	NP_002451	Q15306	IRF4_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)	4	670	+		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)	182					Q5VUI7|Q99660	Missense_Mutation	SNP	ENST00000380956.4	37	c.544G>A	CCDS4469.1	.	.	.	.	.	.	.	.	.	.	G	7.523	0.657008	0.14580	.	.	ENSG00000137265	ENST00000380956;ENST00000412334	D	0.96992	-4.2	5.52	4.65	0.58169	.	0.639061	0.15347	N	0.267148	D	0.83229	0.5209	N	0.08118	0	0.23023	N	0.99842	B;B;B;B	0.21309	0.001;0.002;0.049;0.054	B;B;B;B	0.22601	0.001;0.002;0.04;0.018	T	0.70608	-0.4825	10	0.15499	T	0.54	-23.809	14.4781	0.67562	0.0705:0.0:0.9294:0.0	.	182;212;181;182	F2Z3D5;Q99419;Q15306-2;Q15306	.;.;.;IRF4_HUMAN	I	182;211	ENSP00000370343:V182I	ENSP00000370343:V182I	V	+	1	0	IRF4	342159	1.000000	0.71417	0.853000	0.33588	0.226000	0.24999	4.876000	0.63079	1.340000	0.45581	0.555000	0.69702	GTC		0.567	IRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043638.1		
OR10C1	442194	broad.mit.edu	37	6	29407979	29407979	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr6:29407979C>T	ENST00000444197.2	+	1	897	c.187C>T	c.(187-189)Cgc>Tgc	p.R63C	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	63						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CTTCTTCCTGCGCACCCTCTC	0.572																																						uc011dlp.2																			0				NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						c.(187-189)Cgc>Tgc		Homo sapiens olfactory receptor, family 10, subfamily C, member 1 (OR10C1), mRNA.							187.0	160.0	170.0					6																	29407979		1511	2707	4218	SO:0001583	missense	442194				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29407979C>T		CCDS34364.1	6p22.2-p21.31	2013-10-10	2013-10-10		ENSG00000206474	ENSG00000206474		"""GPCR / Class A : Olfactory receptors"""	8165	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily C, member 2"", ""olfactory receptor, family 10, subfamily C, member 1"""	OR10C2			Standard	NM_013941		Approved	hs6M1-17, OR10C1P	uc011dlp.2	Q96KK4	OTTHUMG00000031207	ENST00000444197.2:c.187C>T	6.37:g.29407979C>T	ENSP00000419119:p.Arg63Cys					OR11A1_uc010jrh.1_Intron	p.R63C	NM_013941	NP_039229	Q96KK4	O10C1_HUMAN			0	264	+			63					Q5SUN7|Q96R18	Missense_Mutation	SNP	ENST00000444197.2	37	c.187C>T	CCDS34364.1	.	.	.	.	.	.	.	.	.	.	C	7.088	0.571627	0.13623	.	.	ENSG00000206474	ENST00000444197	T	0.01084	5.36	3.6	1.76	0.24704	GPCR, rhodopsin-like superfamily (1);	0.227349	0.22449	U	0.059920	T	0.00412	0.0013	N	0.16602	0.42	0.09310	N	1	D	0.54207	0.965	P	0.46339	0.513	T	0.54912	-0.8222	10	0.48119	T	0.1	.	6.1281	0.20189	0.4538:0.4538:0.0:0.0924	.	63	Q96KK4	O10C1_HUMAN	C	63	ENSP00000419119:R63C	ENSP00000419119:R63C	R	+	1	0	OR10C1	29515958	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-2.018000	0.01444	0.313000	0.23062	0.430000	0.28490	CGC		0.572	OR10C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076415.2		
CLPSL2	389383	broad.mit.edu	37	6	35747188	35747188	+	Silent	SNP	C	C	A			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr6:35747188C>A	ENST00000403376.3	+	3	264	c.264C>A	c.(262-264)tcC>tcA	p.S88S	CLPSL2_ENST00000481904.1_3'UTR|CLPSL1_ENST00000373861.5_5'Flank|CLPSL1_ENST00000542261.1_5'Flank|CLPSL2_ENST00000360454.2_Missense_Mutation_p.Q115K	NM_207409.2	NP_997292.2	Q6UWE3	COLL2_HUMAN	colipase-like 2	88					digestion (GO:0007586)|lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	enzyme activator activity (GO:0008047)										CGTGCATATCCAAGGACTTGA	0.567																																						uc003olc.1																			0											c.(343-345)Caa>Aaa		Homo sapiens chromosome 6 open reading frame 126 (C6orf126), mRNA.							118.0	74.0	89.0					6																	35747188		2202	4294	6496	SO:0001819	synonymous_variant	389383				digestion|lipid catabolic process	extracellular region	enzyme activator activity	g.chr6:35747188C>A		CCDS4810.2, CCDS69095.1	6p21.31	2014-01-28	2012-02-06	2012-02-06	ENSG00000196748	ENSG00000196748			21250	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 126"""	C6orf126			Standard	NM_001286550		Approved	dJ510O8.5, UNQ3045	uc010jvz.1	Q6UWE3	OTTHUMG00000014581	ENST00000403376.3:c.264C>A	6.37:g.35747188C>A						CLPSL2_uc010jvz.1_Silent_p.S88S|CLPSL1_uc003old.4_5'Flank	p.Q115K			Q6UWE3	CF126_HUMAN			3	347	+			0					B0QZ45|Q5T9G3	Silent	SNP	ENST00000403376.3	37	c.343C>A	CCDS4810.2	.	.	.	.	.	.	.	.	.	.	C	11.28	1.592854	0.28357	.	.	ENSG00000196748	ENST00000360454	.	.	.	4.18	-0.844	0.10741	.	.	.	.	.	T	0.09774	0.0240	.	.	.	0.09310	N	1	P	0.34639	0.461	B	0.33339	0.162	T	0.24083	-1.0170	7	0.87932	D	0	-10.0738	3.2912	0.06949	0.1893:0.3624:0.0:0.4482	.	115	Q6UWE3-2	.	K	115	.	ENSP00000353639:Q115K	Q	+	1	0	C6orf126	35855166	0.000000	0.05858	0.012000	0.15200	0.008000	0.06430	-0.743000	0.04845	-0.073000	0.12842	-0.424000	0.05967	CAA		0.567	CLPSL2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280618.2	NM_207409	
NFKBIE	4794	broad.mit.edu	37	6	44229489	44229489	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr6:44229489C>T	ENST00000275015.5	-	3	981	c.982G>A	c.(982-984)Gac>Aac	p.D328N		NM_004556.2	NP_004547.2	O00221	IKBE_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, epsilon	328					cytoplasmic sequestering of transcription factor (GO:0042994)|D-serine transport (GO:0042942)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)				breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|urinary_tract(1)	10	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			AGGGCTGTGTCACCATGCCGG	0.652																																						uc003oxe.1																			0				breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|urinary_tract(1)	10						c.(982-984)Gac>Aac		Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, epsilon (NFKBIE), mRNA.							46.0	42.0	43.0					6																	44229489		2203	4300	6503	SO:0001583	missense	4794				cytoplasmic sequestering of transcription factor		protein binding	g.chr6:44229489C>T	U91616	CCDS34463.1	6p21.1	2013-01-10			ENSG00000146232	ENSG00000146232		"""Ankyrin repeat domain containing"""	7799	protein-coding gene	gene with protein product		604548				9135156	Standard	NM_004556		Approved	IKBE	uc003oxe.1	O00221	OTTHUMG00000014762	ENST00000275015.5:c.982G>A	6.37:g.44229489C>T	ENSP00000275015:p.Asp328Asn						p.D328N	NM_004556	NP_004547	O00221	IKBE_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		2	1007	-	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		328					Q5T9V9	Missense_Mutation	SNP	ENST00000275015.5	37	c.982G>A	CCDS34463.1	.	.	.	.	.	.	.	.	.	.	C	8.181	0.793896	0.16327	.	.	ENSG00000146232	ENST00000275015	T	0.61980	0.06	5.28	5.28	0.74379	Ankyrin repeat-containing domain (3);	0.174800	0.49305	D	0.000156	T	0.20901	0.0503	N	0.17248	0.465	0.44798	D	0.997807	P	0.38420	0.63	B	0.34873	0.191	T	0.28170	-1.0052	10	0.05525	T	0.97	-9.7333	10.4796	0.44684	0.0:0.8755:0.0:0.1245	.	328	O00221	IKBE_HUMAN	N	328	ENSP00000275015:D328N	ENSP00000275015:D328N	D	-	1	0	NFKBIE	44337467	1.000000	0.71417	0.943000	0.38184	0.483000	0.33249	4.100000	0.57762	2.470000	0.83445	0.655000	0.94253	GAC		0.652	NFKBIE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040733.2		
FAM83B	222584	broad.mit.edu	37	6	54806091	54806091	+	Silent	SNP	G	G	A			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr6:54806091G>A	ENST00000306858.7	+	5	2438	c.2322G>A	c.(2320-2322)aaG>aaA	p.K774K	RP3-523K23.2_ENST00000562834.1_RNA	NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	774										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					GGTCTCAGAAGTTAAGGTCAT	0.363																																						uc003pck.3																			0				autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71						c.(2320-2322)aaG>aaA		Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.							53.0	56.0	55.0					6																	54806091		2203	4300	6503	SO:0001819	synonymous_variant	222584							g.chr6:54806091G>A	AK055204	CCDS34479.1	6p12.1	2014-03-13	2006-03-23	2006-03-23	ENSG00000168143	ENSG00000168143			21357	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 143"""	C6orf143		22886302	Standard	NM_001010872		Approved	FLJ30642	uc003pck.4	Q5T0W9	OTTHUMG00000014899	ENST00000306858.7:c.2322G>A	6.37:g.54806091G>A							p.K774K	NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN			4	2438	+	Lung NSC(77;0.0178)|Renal(3;0.122)		774					Q2M1P3|Q96DQ2	Silent	SNP	ENST00000306858.7	37	c.2322G>A	CCDS34479.1																																																																																				0.363	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040994.1	XM_294139	
METTL24	728464	broad.mit.edu	37	6	110567207	110567207	+	Missense_Mutation	SNP	T	T	G			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr6:110567207T>G	ENST00000338882.4	-	5	1042	c.1043A>C	c.(1042-1044)gAc>gCc	p.D348A	CDC40_ENST00000368930.1_Intron	NM_001123364.1	NP_001116836.1	Q5JXM2	MET24_HUMAN	methyltransferase like 24	348						extracellular region (GO:0005576)	methyltransferase activity (GO:0008168)										ATTGAAAATGTCTTTCTTCAA	0.373																																						uc010kdu.1																			0											c.(1042-1044)gAc>gCc		Homo sapiens chromosome 6 open reading frame 186 (C6orf186), mRNA.							208.0	181.0	189.0					6																	110567207		1568	3582	5150	SO:0001583	missense	728464					extracellular region		g.chr6:110567207T>G		CCDS43489.1	6q21	2012-03-08	2012-02-21	2012-02-21	ENSG00000053328	ENSG00000053328			21566	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 186"""	C6orf186			Standard	NM_001123364		Approved	dJ71D21.2	uc010kdu.1	Q5JXM2	OTTHUMG00000015359	ENST00000338882.4:c.1043A>C	6.37:g.110567207T>G	ENSP00000344071:p.Asp348Ala					METTL24_uc003pub.2_Missense_Mutation_p.D151A	p.D348A	NM_001123364	NP_001116836	Q5JXM2	CF186_HUMAN			4	1043	-			348					Q6ZSU5	Missense_Mutation	SNP	ENST00000338882.4	37	c.1043A>C	CCDS43489.1	.	.	.	.	.	.	.	.	.	.	T	12.73	2.025644	0.35701	.	.	ENSG00000053328	ENST00000338882	T	0.44482	0.92	5.98	4.79	0.61399	.	0.309409	0.39687	N	0.001287	T	0.13543	0.0328	N	0.22421	0.69	0.36311	D	0.857635	B	0.06786	0.001	B	0.04013	0.001	T	0.05550	-1.0878	10	0.20519	T	0.43	-4.6063	13.254	0.60068	0.0:0.0:0.1326:0.8674	.	348	Q5JXM2	CF186_HUMAN	A	348	ENSP00000344071:D348A	ENSP00000344071:D348A	D	-	2	0	C6orf186	110673900	1.000000	0.71417	0.920000	0.36463	0.991000	0.79684	3.957000	0.56730	1.051000	0.40369	0.528000	0.53228	GAC		0.373	METTL24-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000041794.1	NM_001123364	
LPA	4018	broad.mit.edu	37	6	161006177	161006177	+	Missense_Mutation	SNP	C	C	T	rs199747804		TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr6:161006177C>T	ENST00000316300.5	-	26	4234	c.4190G>A	c.(4189-4191)cGa>cAa	p.R1397Q	LPA_ENST00000447678.1_Missense_Mutation_p.R1397Q			P08519	APOA_HUMAN	lipoprotein, Lp(a)	3905	Kringle 13. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GAGTGTGCCTCGATAACTCTG	0.468													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18782	0.0		0.0	False		,,,				2504	0.0					uc003qtl.3																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107						c.(4189-4191)cGa>cAa		Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	Aminocaproic Acid(DB00513)	C	GLN/ARG	1,4381	2.1+/-5.4	0,1,2190	216.0	215.0	215.0		4190	1.5	0.2	6		215	0,8592		0,0,4296	yes	missense	LPA	NM_005577.2	43	0,1,6486	TT,TC,CC		0.0,0.0228,0.0077	probably-damaging	1397/2041	161006177	1,12973	2191	4296	6487	SO:0001583	missense	4018				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	g.chr6:161006177C>T	X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.4190G>A	6.37:g.161006177C>T	ENSP00000321334:p.Arg1397Gln						p.R1397Q	NM_005577	NP_005568	P08519	APOA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	26	4310	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)	3905			Kringle 13.		Q5VTD7|Q9UD88	Missense_Mutation	SNP	ENST00000316300.5	37	c.4190G>A	CCDS43523.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	c	9.726	1.161054	0.21538	2.28E-4	0.0	ENSG00000198670	ENST00000316300;ENST00000447678	T;T	0.69306	-0.39;-0.39	2.41	1.51	0.23008	Kringle (4);Kringle-like fold (1);	.	.	.	.	T	0.64483	0.2602	M	0.83312	2.635	0.21416	N	0.999699	D	0.53619	0.961	P	0.58172	0.834	T	0.54918	-0.8221	9	0.52906	T	0.07	.	5.0631	0.14568	0.0:0.8161:0.0:0.1839	.	3905	P08519	APOA_HUMAN	Q	1397	ENSP00000321334:R1397Q;ENSP00000395608:R1397Q	ENSP00000321334:R1397Q	R	-	2	0	LPA	160926167	0.996000	0.38824	0.235000	0.24058	0.008000	0.06430	3.056000	0.49923	0.325000	0.23359	-0.436000	0.05848	CGA		0.468	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577	
BRAT1	221927	broad.mit.edu	37	7	2580983	2580983	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr7:2580983G>A	ENST00000340611.4	-	9	1526	c.1270C>T	c.(1270-1272)Cgg>Tgg	p.R424W	BRAT1_ENST00000473879.1_5'Flank	NM_152743.3	NP_689956.2	Q6PJG6	BRAT1_HUMAN	BRCA1-associated ATM activator 1	424					response to ionizing radiation (GO:0010212)	membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						CGCTGGACCCGGACGCAGCCC	0.682																																						uc003smi.3																			0		p.V423V(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						c.(1270-1272)Cgg>Tgg		Homo sapiens BRCA1-associated ATM activator 1 (BRAT1), mRNA.							20.0	21.0	20.0					7																	2580983		2201	4299	6500	SO:0001583	missense	221927				response to ionizing radiation	nucleus	protein binding	g.chr7:2580983G>A	BC015632	CCDS5334.1	7p22.3	2011-03-22	2011-02-28	2011-03-22	ENSG00000106009	ENSG00000106009			21701	protein-coding gene	gene with protein product	"""BRCA1-associated protein required for ATM activation protein 1"""	614506	"""chromosome 7 open reading frame 27"""	C7orf27, BAAT1		16452482	Standard	NM_152743		Approved	MGC22916	uc003smi.3	Q6PJG6	OTTHUMG00000119091	ENST00000340611.4:c.1270C>T	7.37:g.2580983G>A	ENSP00000339637:p.Arg424Trp					BRAT1_uc003smh.4_5'UTR	p.R424W	NM_152743	NP_689956	Q6PJG6	BRAT1_HUMAN			8	1558	-			424					A4D200|C9JY24|Q8IW85|Q8IZ43|Q8WVR8|Q96IV9|Q9H7J8|Q9UFA3	Missense_Mutation	SNP	ENST00000340611.4	37	c.1270C>T	CCDS5334.1	.	.	.	.	.	.	.	.	.	.	G	15.06	2.720274	0.48728	.	.	ENSG00000106009	ENST00000340611	T	0.69561	-0.41	5.18	4.22	0.49857	Armadillo-like helical (1);Armadillo-type fold (1);	0.049661	0.85682	D	0.000000	T	0.79028	0.4377	M	0.69823	2.125	0.24417	N	0.99464	D	0.89917	1.0	D	0.87578	0.998	T	0.70160	-0.4948	10	0.87932	D	0	-45.3975	11.8744	0.52539	0.0:0.0:0.7882:0.2118	.	424	Q6PJG6	BRAT1_HUMAN	W	424	ENSP00000339637:R424W	ENSP00000339637:R424W	R	-	1	2	BRAT1	2547509	0.993000	0.37304	0.386000	0.26170	0.392000	0.30506	2.611000	0.46334	2.425000	0.82216	0.462000	0.41574	CGG		0.682	BRAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239305.2	NM_152743	
SP4	6671	broad.mit.edu	37	7	21550871	21550871	+	Missense_Mutation	SNP	A	A	G			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr7:21550871A>G	ENST00000222584.3	+	6	2557	c.2339A>G	c.(2338-2340)aAc>aGc	p.N780S		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	780					regulation of heart contraction (GO:0008016)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						GTTTCAACCAACATGGAAGAA	0.423																																						uc003sva.3																			0		p.N780N(1)|p.T779N(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						c.(2338-2340)aAc>aGc		Homo sapiens Sp4 transcription factor (SP4), mRNA.							59.0	63.0	62.0					7																	21550871		2203	4300	6503	SO:0001583	missense	6671				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr7:21550871A>G		CCDS5373.1	7p15	2013-01-08			ENSG00000105866	ENSG00000105866		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11209	protein-coding gene	gene with protein product		600540				1454515	Standard	XM_005249828		Approved	SPR-1, HF1B, MGC130008, MGC130009	uc003sva.3	Q02446	OTTHUMG00000094801	ENST00000222584.3:c.2339A>G	7.37:g.21550871A>G	ENSP00000222584:p.Asn780Ser					SP4_uc003svb.3_Missense_Mutation_p.N467S	p.N780S	NM_003112	NP_003103	Q02446	SP4_HUMAN			5	2520	+			780					O60402|Q32M52	Missense_Mutation	SNP	ENST00000222584.3	37	c.2339A>G	CCDS5373.1	.	.	.	.	.	.	.	.	.	.	A	11.41	1.631234	0.28978	.	.	ENSG00000105866	ENST00000222584	T	0.08896	3.04	5.44	5.44	0.79542	.	0.098116	0.64402	D	0.000003	T	0.04407	0.0121	N	0.08118	0	0.49299	D	0.999771	P	0.46656	0.882	B	0.40534	0.332	T	0.34625	-0.9821	10	0.02654	T	1	.	15.4963	0.75653	1.0:0.0:0.0:0.0	.	780	Q02446	SP4_HUMAN	S	780	ENSP00000222584:N780S	ENSP00000222584:N780S	N	+	2	0	SP4	21517396	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.965000	0.70387	2.079000	0.62486	0.482000	0.46254	AAC		0.423	SP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211617.2	NM_003112	
PDE1C	5137	broad.mit.edu	37	7	32091191	32091191	+	Splice_Site	SNP	T	T	C			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr7:32091191T>C	ENST00000396191.1	-	2	558	c.103A>G	c.(103-105)Agg>Ggg	p.R35G	PDE1C_ENST00000396193.1_Intron|PDE1C_ENST00000396184.3_Splice_Site_p.R35G|PDE1C_ENST00000321453.7_Splice_Site_p.R35G|PDE1C_ENST00000396182.2_Splice_Site_p.R35G	NM_001191057.1	NP_001177986.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	35					activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)	cytosol (GO:0005829)	calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)		Caffeine(DB00201)	TTATATTTCCTCCTGTAAGAA	0.468																																						uc003tcm.2																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81						c.e2-1		Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 2, mRNA.							92.0	82.0	85.0					7																	32091191		2203	4300	6503	SO:0001630	splice_region_variant	5137				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr7:32091191T>C	U40371	CCDS5437.1, CCDS55099.1, CCDS55100.1	7p15.1-p14.3	2008-05-15	2002-08-29		ENSG00000154678	ENSG00000154678	3.1.4.17	"""Phosphodiesterases"""	8776	protein-coding gene	gene with protein product		602987	"""phosphodiesterase 1C, calmodulin-dependent (70kD)"""			8557689	Standard	XM_005249769		Approved	Hcam3	uc003tco.2	Q14123	OTTHUMG00000023836	ENST00000396191.1:c.102-1A>G	7.37:g.32091191T>C						PDE1C_uc003tcn.1_Splice_Site_p.L34_splice|PDE1C_uc003tco.2_Intron|PDE1C_uc003tcr.3_Splice_Site_p.L34_splice|PDE1C_uc003tcs.3_Splice_Site_p.L34_splice	p.L34_splice	NM_001191057	NP_001177988	Q14123	PDE1C_HUMAN	GBM - Glioblastoma multiforme(11;0.216)		2	563	-			34					B3KPC6|E9PE92|Q14124|Q8NB10	Missense_Mutation	SNP	ENST00000396191.1	37	c.102_splice	CCDS55099.1	.	.	.	.	.	.	.	.	.	.	T	11.74	1.730096	0.30684	.	.	ENSG00000154678	ENST00000396191;ENST00000321453;ENST00000396184;ENST00000396182;ENST00000396189	T;T;T;T	0.73152	-0.72;-0.72;-0.7;-0.7	5.65	5.65	0.86999	.	.	.	.	.	T	0.71273	0.3320	N	0.19112	0.55	0.31338	N	0.683969	B;D	0.54601	0.001;0.967	B;P	0.60789	0.003;0.879	T	0.74386	-0.3682	9	0.66056	D	0.02	.	12.5422	0.56177	0.0:0.0:0.0:1.0	.	35;35	Q14123-2;Q14123	.;PDE1C_HUMAN	G	35	ENSP00000379494:R35G;ENSP00000318105:R35G;ENSP00000379487:R35G;ENSP00000379485:R35G	ENSP00000318105:R35G	R	-	1	2	PDE1C	32057716	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.968000	0.56809	2.272000	0.75746	0.460000	0.39030	AGG		0.468	PDE1C-006	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328458.1		Missense_Mutation
ASL	435	broad.mit.edu	37	7	65554649	65554649	+	Silent	SNP	C	C	G	rs140532520	byFrequency	TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr7:65554649C>G	ENST00000304874.9	+	14	1131	c.1029C>G	c.(1027-1029)ctC>ctG	p.L343L	ASL_ENST00000395332.3_Silent_p.L343L|ASL_ENST00000395331.3_Silent_p.L323L|ASL_ENST00000464970.1_3'UTR|ASL_ENST00000380839.4_Silent_p.L317L|AC068533.7_ENST00000450043.1_Missense_Mutation_p.P112A	NM_000048.3	NP_000039.2	P04424	ARLY_HUMAN	argininosuccinate lyase	343					arginine biosynthetic process via ornithine (GO:0042450)|arginine catabolic process (GO:0006527)|cellular nitrogen compound metabolic process (GO:0034641)|internal protein amino acid acetylation (GO:0006475)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	argininosuccinate lyase activity (GO:0004056)			breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	18					L-Arginine(DB00125)	GTGCCGTGCTCCAGGTGGCCA	0.637																																						uc003tup.3																			0		p.V342V(1)		breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	18						c.(1027-1029)ctC>ctG		Homo sapiens argininosuccinate lyase (ASL), transcript variant 1, mRNA.	L-Arginine(DB00125)						108.0	72.0	84.0					7																	65554649		2203	4300	6503	SO:0001819	synonymous_variant	435				arginine biosynthetic process via ornithine|arginine catabolic process|urea cycle	cytosol	argininosuccinate lyase activity	g.chr7:65554649C>G		CCDS5531.1, CCDS47597.1, CCDS47598.1	7q11.21	2012-10-02			ENSG00000126522	ENSG00000126522	4.3.2.1		746	protein-coding gene	gene with protein product		608310					Standard	NM_001024943		Approved		uc003tuo.3	P04424	OTTHUMG00000022876	ENST00000304874.9:c.1029C>G	7.37:g.65554649C>G						ASL_uc003tuo.3_Silent_p.L343L|ASL_uc003tur.3_Silent_p.L317L|ASL_uc003tuq.3_Silent_p.L323L	p.L343L	NM_001024943	NP_001020114	P04424	ARLY_HUMAN			12	1264	+			343					E7EMI0|E9PE48|Q6LDS5|Q96HS2	Silent	SNP	ENST00000304874.9	37	c.1029C>G	CCDS5531.1	.	.	.	.	.	.	.	.	.	.	c	9.203	1.028946	0.19512	.	.	ENSG00000249319	ENST00000450043	.	.	.	5.09	-3.9	0.04181	.	.	.	.	.	T	0.62295	0.2416	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62831	-0.6771	4	.	.	.	.	13.0988	0.59208	0.0:0.2182:0.6546:0.1273	.	.	.	.	A	112	.	.	P	+	1	0	AC068533.7	65192084	0.082000	0.21442	0.981000	0.43875	0.938000	0.57974	-0.897000	0.04110	-0.410000	0.07542	-0.260000	0.10688	CCA		0.637	ASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251695.2	NM_000048	
CNTNAP2	26047	broad.mit.edu	37	7	148112574	148112574	+	Missense_Mutation	SNP	C	C	T	rs138661307		TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr7:148112574C>T	ENST00000361727.3	+	24	4378	c.3862C>T	c.(3862-3864)Cgc>Tgc	p.R1288C	CNTNAP2_ENST00000538075.1_Missense_Mutation_p.R347C|CNTNAP2_ENST00000463592.2_3'UTR	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	1288					adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)	p.R1288S(1)|p.R1288C(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GTACATGTTCCGCCACAAGGG	0.567										HNSCC(39;0.1)																												uc003weu.2																			2	Substitution - Missense(2)	p.R1288S(2)|p.R1288C(2)	ovary(1)|lung(1)	NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188						c.(3862-3864)Cgc>Tgc		Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.		C	CYS/ARG	0,4406		0,0,2203	85.0	71.0	76.0		3862	5.4	1.0	7	dbSNP_134	76	1,8599	1.2+/-3.3	0,1,4299	yes	missense	CNTNAP2	NM_014141.5	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	1288/1332	148112574	1,13005	2203	4300	6503	SO:0001583	missense	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:148112574C>T	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.3862C>T	7.37:g.148112574C>T	ENSP00000354778:p.Arg1288Cys	HNSCC(39;0.1)				CNTNAP2_uc003wev.2_Missense_Mutation_p.R65C	p.R1288C	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		23	4378	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	1288					D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	c.3862C>T	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.020129	0.93462	0.0	1.16E-4	ENSG00000174469	ENST00000361727;ENST00000538075	T;T	0.44482	0.92;0.92	5.42	5.42	0.78866	Neurexin/syndecan/glycophorin C (1);	0.000000	0.85682	D	0.000000	T	0.67859	0.2938	M	0.82517	2.595	0.80722	D	1	D	0.89917	1.0	D	0.69479	0.964	T	0.73011	-0.4117	10	0.87932	D	0	.	17.8137	0.88624	0.0:1.0:0.0:0.0	.	1288	Q9UHC6	CNTP2_HUMAN	C	1288;347	ENSP00000354778:R1288C;ENSP00000440732:R347C	ENSP00000354778:R1288C	R	+	1	0	CNTNAP2	147743507	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.686000	0.84128	2.534000	0.85438	0.655000	0.94253	CGC		0.567	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1		
PXDNL	137902	broad.mit.edu	37	8	52321474	52321474	+	Nonsense_Mutation	SNP	C	C	A			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr8:52321474C>A	ENST00000356297.4	-	17	2810	c.2710G>T	c.(2710-2712)Gag>Tag	p.E904*	PXDNL_ENST00000543296.1_Nonsense_Mutation_p.E904*	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	904					hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GATTCCCGCTCCGAGCTCCCG	0.592																																						uc003xqu.4																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48						c.(2710-2712)Gag>Tag		Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.							39.0	44.0	42.0					8																	52321474		1986	4151	6137	SO:0001587	stop_gained	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52321474C>A		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.2710G>T	8.37:g.52321474C>A	ENSP00000348645:p.Glu904*					PXDNL_uc003xqt.4_Non-coding_Transcript	p.E904*	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN			16	2811	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	904					B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Nonsense_Mutation	SNP	ENST00000356297.4	37	c.2710G>T	CCDS47855.1	.	.	.	.	.	.	.	.	.	.	C	39	7.508556	0.98329	.	.	ENSG00000147485	ENST00000356297;ENST00000543296	.	.	.	4.03	3.1	0.35709	.	0.373843	0.22372	N	0.060930	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	.	10.2879	0.43577	0.1993:0.8006:0.0:0.0	.	.	.	.	X	904	.	ENSP00000348645:E904X	E	-	1	0	PXDNL	52484027	0.915000	0.31059	0.002000	0.10522	0.132000	0.20833	2.639000	0.46570	0.607000	0.29982	0.561000	0.74099	GAG		0.592	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651	
DCAF13	25879	broad.mit.edu	37	8	104452461	104452461	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr8:104452461C>T	ENST00000297579.5	+	9	1781	c.1504C>T	c.(1504-1506)Cgc>Tgc	p.R502C	DCAF13_ENST00000521999.1_3'UTR	NM_015420.6	NP_056235.4	Q9NV06	DCA13_HUMAN	DDB1 and CUL4 associated factor 13	350					protein ubiquitination (GO:0016567)|rRNA processing (GO:0006364)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						AATGAACATTCGCCTGTGGAA	0.328																																						uc003yln.3																			0		p.R502H(1)		NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						c.(1504-1506)Cgc>Tgc		Homo sapiens DDB1 and CUL4 associated factor 13 (DCAF13), mRNA.							157.0	160.0	159.0					8																	104452461		2203	4300	6503	SO:0001583	missense	25879				rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex		g.chr8:104452461C>T	AK074725	CCDS34934.1	8q22.3	2013-01-09	2009-07-17	2009-07-17	ENSG00000164934	ENSG00000164934		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	24535	protein-coding gene	gene with protein product			"""WD repeats and SOF1 domain containing"""	WDSOF1		11042152	Standard	NM_015420		Approved	DKFZP564O0463, Gm83, HSPC064	uc003yln.3	Q9NV06	OTTHUMG00000164888	ENST00000297579.5:c.1504C>T	8.37:g.104452461C>T	ENSP00000297579:p.Arg502Cys					DCAF13_uc003ylm.1_Missense_Mutation_p.R235C	p.R502C	NM_015420	NP_056235	Q9NV06	DCA13_HUMAN			8	1781	+			350					Q3MII9|Q8NCH8|Q8TC51|Q96JY7|Q9NZX3	Missense_Mutation	SNP	ENST00000297579.5	37	c.1504C>T	CCDS34934.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.428692	0.83667	.	.	ENSG00000164934	ENST00000297579	T	0.68025	-0.3	5.0	5.0	0.66597	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.86797	0.6019	M	0.93638	3.44	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90239	0.4285	10	0.87932	D	0	-16.9876	18.481	0.90811	0.0:1.0:0.0:0.0	.	350	Q9NV06	DCA13_HUMAN	C	502	ENSP00000297579:R502C	ENSP00000297579:R502C	R	+	1	0	DCAF13	104521637	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.477000	0.66799	2.583000	0.87209	0.650000	0.86243	CGC		0.328	DCAF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380797.2	NM_015420	
DCSTAMP	81501	broad.mit.edu	37	8	105360771	105360771	+	5'UTR	SNP	C	C	T			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr8:105360771C>T	ENST00000297581.2	+	0	40				DPYS_ENST00000521601.1_Intron|DCSTAMP_ENST00000517991.1_5'UTR	NM_030788.3	NP_110415.1	Q9H295	DCSTP_HUMAN	dendrocyte expressed seven transmembrane protein						cellular response to interleukin-4 (GO:0071353)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to tumor necrosis factor (GO:0071356)|membrane fusion (GO:0061025)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cell growth (GO:0030308)|osteoclast differentiation (GO:0030316)|osteoclast fusion (GO:0072675)|positive regulation of bone resorption (GO:0045780)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of monocyte differentiation (GO:0045657)	cell surface (GO:0009986)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)											ATTTTCAGGACGCAGGGAGCA	0.463																																						uc003ylx.1																			0													Homo sapiens transmembrane 7 superfamily member 4 (TM7SF4), mRNA.							53.0	53.0	53.0					8																	105360771		2203	4300	6503	SO:0001623	5_prime_UTR_variant	81501				osteoclast differentiation	cell surface|integral to membrane|plasma membrane		g.chr8:105360771C>T	AF305068	CCDS6301.1, CCDS59111.1	8q22.3	2012-08-10	2012-03-27	2012-03-27	ENSG00000164935	ENSG00000164935			18549	protein-coding gene	gene with protein product	"""Dendritic cells (DC)-specific transmembrane protein"", ""IL-Four INDuced"""	605933	"""transmembrane 7 superfamily member 4"""	TM7SF4		11169400, 11345591	Standard	NM_030788		Approved	DC-STAMP, FIND	uc003ylx.2	Q9H295	OTTHUMG00000164890	ENST00000297581.2:c.-10C>T	8.37:g.105360771C>T								NM_030788	NP_110415	Q9H295	TM7S4_HUMAN			1		+								B7ZVW2|E7ESG0|Q2M2D5	Translation_Start_Site	SNP	ENST00000297581.2	37		CCDS6301.1																																																																																				0.463	DCSTAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380810.1	NM_030788	
TIGD5	84948	broad.mit.edu	37	8	144681263	144681263	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr8:144681263G>A	ENST00000504548.2	+	1	1190	c.1190G>A	c.(1189-1191)gGc>gAc	p.G397D	EEF1D_ENST00000442189.2_5'Flank|EEF1D_ENST00000529272.1_5'Flank|EEF1D_ENST00000531770.1_5'Flank|EEF1D_ENST00000526838.1_5'Flank|EEF1D_ENST00000528610.1_5'Flank|RP11-661A12.14_ENST00000606452.1_lincRNA|TIGD5_ENST00000321385.3_Missense_Mutation_p.G348D|EEF1D_ENST00000531621.1_5'Flank|EEF1D_ENST00000532400.1_5'Flank|EEF1D_ENST00000419152.2_5'Flank|EEF1D_ENST00000524624.1_5'Flank|EEF1D_ENST00000317198.6_5'Flank|EEF1D_ENST00000395119.3_5'Flank|EEF1D_ENST00000423316.2_5'Flank	NM_032862.4	NP_116251.4	Q53EQ6	TIGD5_HUMAN	tigger transposable element derived 5	397						nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	7	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			ACACCGGATGGCGCTGTGCGG	0.692																																						uc003yyx.2																			0				NS(1)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	7						c.(1189-1191)gGc>gAc		Homo sapiens tigger transposable element derived 5 (TIGD5), mRNA.							9.0	11.0	10.0					8																	144681263		2159	4260	6419	SO:0001583	missense	84948				regulation of transcription, DNA-dependent	chromosome, centromeric region	DNA binding	g.chr8:144681263G>A	AK027832	CCDS6406.1, CCDS6406.2	8q24.3	2008-02-01				ENSG00000179886			18336	protein-coding gene	gene with protein product							Standard	NM_032862		Approved	FLJ14926	uc003yyx.2	Q53EQ6		ENST00000504548.2:c.1190G>A	8.37:g.144681263G>A	ENSP00000421489:p.Gly397Asp					EEF1D_uc011lki.2_5'Flank|EEF1D_uc003yyv.3_5'Flank|EEF1D_uc003yyu.3_5'Flank|EEF1D_uc011lkk.2_5'Flank|EEF1D_uc003yyt.3_5'Flank|EEF1D_uc003yyr.3_5'Flank|EEF1D_uc003yys.3_5'Flank|EEF1D_uc011lkl.2_5'Flank	p.G397D	NM_032862	NP_116251	E7EWS2	E7EWS2_HUMAN	Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		0	1190	+	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		397					E7EWS2|Q6NT83|Q8N5A1|Q96JW8	Missense_Mutation	SNP	ENST00000504548.2	37	c.1190G>A	CCDS6406.2	.	.	.	.	.	.	.	.	.	.	G	14.33	2.502814	0.44558	.	.	ENSG00000179886	ENST00000504548;ENST00000321385	T;T	0.37235	1.21;1.22	4.75	4.75	0.60458	.	0.000000	0.56097	U	0.000022	T	0.57844	0.2081	M	0.68317	2.08	0.33880	D	0.635981	D	0.89917	1.0	D	0.76575	0.988	T	0.67476	-0.5661	10	0.35671	T	0.21	.	16.74	0.85456	0.0:0.0:1.0:0.0	.	348	Q53EQ6	TIGD5_HUMAN	D	397;348	ENSP00000421489:G397D;ENSP00000315906:G348D	ENSP00000315906:G348D	G	+	2	0	TIGD5	144752406	1.000000	0.71417	0.090000	0.20809	0.186000	0.23388	4.960000	0.63673	2.173000	0.68751	0.655000	0.94253	GGC		0.692	TIGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368269.1	NM_032862	
FAM83H	286077	broad.mit.edu	37	8	144808805	144808805	+	Silent	SNP	G	G	A	rs544120916		TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr8:144808805G>A	ENST00000388913.3	-	5	2951	c.2826C>T	c.(2824-2826)tcC>tcT	p.S942S		NM_198488.3	NP_940890	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	942					biomineral tissue development (GO:0031214)					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GGGACTCCCCGGAGATGGTAA	0.736																																						uc003yzk.3																			0				central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21						c.(2824-2826)tcC>tcT		Homo sapiens family with sequence similarity 83, member H (FAM83H), mRNA.							6.0	8.0	7.0					8																	144808805		1626	3679	5305	SO:0001819	synonymous_variant	286077				biomineral tissue development			g.chr8:144808805G>A	AK127960	CCDS6410.2	8q24.3	2014-03-13			ENSG00000180921	ENSG00000180921			24797	protein-coding gene	gene with protein product		611927				18252228	Standard	NM_198488		Approved	FLJ46072	uc003yzk.3	Q6ZRV2	OTTHUMG00000133559	ENST00000388913.3:c.2826C>T	8.37:g.144808805G>A							p.S942S	NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		4	2895	-	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		942					A0JLS2|Q8N4W0	Silent	SNP	ENST00000388913.3	37	c.2826C>T	CCDS6410.2																																																																																				0.736	FAM83H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257632.2	NM_198488	
SPATA31A3	727830	broad.mit.edu	37	9	40702725	40702725	+	Missense_Mutation	SNP	G	G	A	rs554911040		TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr9:40702725G>A	ENST00000356699.5	+	4	411	c.382G>A	c.(382-384)Gaa>Aaa	p.E128K	SPATA31A3_ENST00000463536.1_3'UTR|RP11-395E19.5_ENST00000432614.1_lincRNA	NM_001083124.1	NP_001076593.1	Q5VYP0	S31A3_HUMAN	SPATA31 subfamily A, member 3	128	Pro-rich.				cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.E128*(2)									TGAGGTGGGCGAAAGAGCACC	0.602													G|||	1	0.000199681	0.0	0.0014	5008	,	,		15898	0.0		0.0	False		,,,				2504	0.0					uc010mmj.3																			2	Substitution - Nonsense(2)	p.E128*(3)	kidney(2)	kidney(1)|large_intestine(2)|lung(18)|ovary(3)|prostate(1)|skin(1)	26						c.(382-384)Gaa>Aaa		Homo sapiens family with sequence similarity 75, member A3 (FAM75A3), mRNA.							13.0	13.0	13.0					9																	40702725		1132	2914	4046	SO:0001583	missense	727830					integral to membrane		g.chr9:40702725G>A			9p12	2012-10-15	2012-10-12	2012-10-12	ENSG00000147926				32003	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member A3"""	FAM75A3		20850414	Standard	NM_001083124		Approved	OTTHUMG00000013164, DKFZp434B204	uc010mmj.3	Q5VYP0	OTTHUMG00000013164	ENST00000356699.5:c.382G>A	9.37:g.40702725G>A	ENSP00000349132:p.Glu128Lys						p.E128K	NM_001083124	NP_001076593	Q5VYP0	F75A3_HUMAN		GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	3	411	+			128			Pro-rich.			Missense_Mutation	SNP	ENST00000356699.5	37	c.382G>A	CCDS47969.1	.	.	.	.	.	.	.	.	.	.	G	0.009	-1.801782	0.00611	.	.	ENSG00000147926	ENST00000356699	T	0.03607	3.87	2.19	-1.88	0.07713	.	0.593182	0.15064	N	0.282606	T	0.00815	0.0027	N	0.00389	-1.56	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43798	-0.9369	10	0.02654	T	1	-2.7614	5.8906	0.18911	0.5124:0.0:0.4876:0.0	.	128	Q5VYP0	F75A3_HUMAN	K	128	ENSP00000349132:E128K	ENSP00000349132:E128K	E	+	1	0	FAM75A3	40692725	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-0.216000	0.09266	-0.463000	0.06973	-1.750000	0.00680	GAA		0.602	SPATA31A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036919.1	NM_001083124	
TRPM3	80036	broad.mit.edu	37	9	73399100	73399100	+	Missense_Mutation	SNP	C	C	T	rs141951214		TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr9:73399100C>T	ENST00000377111.2	-	7	1312	c.1069G>A	c.(1069-1071)Gtg>Atg	p.V357M	TRPM3_ENST00000396292.4_Missense_Mutation_p.V229M|TRPM3_ENST00000377105.1_Missense_Mutation_p.V204M|TRPM3_ENST00000377106.1_Missense_Mutation_p.V229M|TRPM3_ENST00000408909.2_Missense_Mutation_p.V204M|TRPM3_ENST00000396283.1_Missense_Mutation_p.V229M|TRPM3_ENST00000396280.5_Missense_Mutation_p.V204M|TRPM3_ENST00000361823.5_Missense_Mutation_p.V204M|TRPM3_ENST00000357533.2_Missense_Mutation_p.V359M|TRPM3_ENST00000377110.3_Missense_Mutation_p.V357M|TRPM3_ENST00000358082.3_Missense_Mutation_p.V229M|TRPM3_ENST00000377101.1_Missense_Mutation_p.V204M|TRPM3_ENST00000360823.2_Missense_Mutation_p.V229M|TRPM3_ENST00000396285.1_Missense_Mutation_p.V204M|TRPM3_ENST00000423814.3_Missense_Mutation_p.V384M	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	382					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						ACCACTGGCACGGGAGGGGTG	0.547													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16336	0.0		0.0	False		,,,				2504	0.0					uc004aid.3																			0				NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						c.(1069-1071)Gtg>Atg		Homo sapiens transient receptor potential cation channel, subfamily M, member 3 (TRPM3), transcript variant 9, mRNA.		C	MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL	5,4401	9.9+/-24.2	0,5,2198	112.0	94.0	100.0		685,1069,610,610,610,610,685,685,610	6.2	1.0	9	dbSNP_134	100	0,8600		0,0,4300	no	missense,missense,missense,missense,missense,missense,missense,missense,missense	TRPM3	NM_001007470.1,NM_001007471.2,NM_020952.4,NM_024971.5,NM_206944.3,NM_206945.3,NM_206946.3,NM_206947.3,NM_206948.2	21,21,21,21,21,21,21,21,21	0,5,6498	TT,TC,CC		0.0,0.1135,0.0384	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	229/256,357/1708,204/1555,204/1567,204/1545,204/1557,229/1580,229/1570,204/231	73399100	5,13001	2203	4300	6503	SO:0001583	missense	80036					integral to membrane	calcium channel activity	g.chr9:73399100C>T	AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17992	protein-coding gene	gene with protein product	"""melastatin 2"""	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.1069G>A	9.37:g.73399100C>T	ENSP00000366315:p.Val357Met					TRPM3_uc004ahu.3_Missense_Mutation_p.V187M|TRPM3_uc004ahv.3_Missense_Mutation_p.V187M|TRPM3_uc004ahw.3_Missense_Mutation_p.V229M|TRPM3_uc004ahx.3_Missense_Mutation_p.V204M|TRPM3_uc004ahy.3_Missense_Mutation_p.V229M|TRPM3_uc004ahz.3_Missense_Mutation_p.V204M|TRPM3_uc004aia.3_Missense_Mutation_p.V204M|TRPM3_uc004aib.3_Missense_Mutation_p.V204M|TRPM3_uc004aic.3_Missense_Mutation_p.V357M|TRPM3_uc010mor.3_Missense_Mutation_p.V357M|TRPM3_uc004aie.3_Missense_Mutation_p.V204M|TRPM3_uc004aif.3_Missense_Mutation_p.V229M|TRPM3_uc004aig.3_Missense_Mutation_p.V204M	p.V357M	NM_001007471	NP_066003	Q9HCF6	TRPM3_HUMAN			6	1313	-			382					A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	ENST00000377111.2	37	c.1069G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.7|24.7	4.561225|4.561225	0.86335|0.86335	0.001135|0.001135	0.0|0.0	ENSG00000083067|ENSG00000083067	ENST00000396280|ENST00000377111;ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814;ENST00000377101;ENST00000396283;ENST00000361823	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.73047	.|4.06;4.06;0.28;0.3;4.06;4.06;4.06;4.06;0.28;0.3;0.29;4.06;-0.71;1.72	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.86112|0.86112	0.5855|0.5855	M|M	0.84219|0.84219	2.685|2.685	0.58432|0.58432	D|D	0.999993|0.999993	.|P;D;D;D;D;P;P;D;D;D	.|0.89917	.|0.874;1.0;0.999;0.966;0.998;0.889;0.638;0.998;0.999;0.966	.|B;D;D;P;P;B;P;P;D;P	.|0.69479	.|0.282;0.964;0.964;0.473;0.875;0.281;0.556;0.875;0.943;0.576	D|D	0.86020|0.86020	0.1506|0.1506	5|10	.|0.66056	.|D	.|0.02	-10.7188|-10.7188	20.8794|20.8794	0.99867|0.99867	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|382;204;357;357;357;359;229;204;357;204	.|Q9HCF6;Q504Y1;Q9HCF6-2;Q9HCF6-10;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1;Q9HCF6-8;A2A3F3	.|TRPM3_HUMAN;.;.;.;.;.;.;.;.;.	H|M	203|357;357;229;229;204;359;204;204;229;229;384;204;229;204	.|ENSP00000366315:V357M;ENSP00000366314:V357M;ENSP00000366310:V229M;ENSP00000354066:V229M;ENSP00000366309:V204M;ENSP00000350140:V359M;ENSP00000386127:V204M;ENSP00000379581:V204M;ENSP00000379587:V229M;ENSP00000350791:V229M;ENSP00000389542:V384M;ENSP00000366305:V204M;ENSP00000379579:V229M;ENSP00000355395:V204M	.|ENSP00000350140:V359M	R|V	-|-	2|1	0|0	TRPM3|TRPM3	72588920|72588920	0.999000|0.999000	0.42202|0.42202	0.975000|0.975000	0.42487|0.42487	0.879000|0.879000	0.50718|0.50718	4.034000|4.034000	0.57289|0.57289	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	CGT|GTG		0.547	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000214157.5	NM_206945	
ROR2	4920	broad.mit.edu	37	9	94486082	94486082	+	Silent	SNP	C	C	T	rs141070315		TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr9:94486082C>T	ENST00000375708.3	-	9	2892	c.2694G>A	c.(2692-2694)caG>caA	p.Q898Q	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Intron	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	898					cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|embryonic genitalia morphogenesis (GO:0030538)|inner ear morphogenesis (GO:0042472)|JNK cascade (GO:0007254)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	clathrin-coated endocytic vesicle membrane (GO:0030669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CTGGGGCGTTCTGTGTGTCAT	0.637																																						uc004arj.2																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						c.(2692-2694)caG>caA		Homo sapiens receptor tyrosine kinase-like orphan receptor 2 (ROR2), mRNA.							98.0	97.0	97.0					9																	94486082		2203	4300	6503	SO:0001819	synonymous_variant	4920				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding	g.chr9:94486082C>T	M97639	CCDS6691.1	9q22	2013-01-11			ENSG00000169071	ENSG00000169071		"""Immunoglobulin superfamily / I-set domain containing"""	10257	protein-coding gene	gene with protein product		602337		NTRKR2, BDB, BDB1		1334494, 10700182	Standard	NM_004560		Approved		uc004arj.2	Q01974	OTTHUMG00000020211	ENST00000375708.3:c.2694G>A	9.37:g.94486082C>T						ROR2_uc004ari.1_Intron	p.Q898Q	NM_004560	NP_004551	Q01974	ROR2_HUMAN			8	2893	-			898					Q59GF5|Q5SPI5|Q9HAY7|Q9HB61	Silent	SNP	ENST00000375708.3	37	c.2694G>A	CCDS6691.1																																																																																				0.637	ROR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053040.1		
TNC	3371	broad.mit.edu	37	9	117783441	117783441	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr9:117783441C>T	ENST00000350763.4	-	28	7012	c.6601G>A	c.(6601-6603)Gca>Aca	p.A2201T	TNC_ENST00000542877.1_Missense_Mutation_p.A1838T|TNC_ENST00000346706.3_Missense_Mutation_p.A1655T|TNC_ENST00000340094.3_Missense_Mutation_p.A1837T|TNC_ENST00000345230.3_Missense_Mutation_p.A1564T|TNC_ENST00000423613.2_Missense_Mutation_p.A1928T|TNC_ENST00000537320.1_Missense_Mutation_p.A1564T|TNC_ENST00000535648.1_Missense_Mutation_p.A1746T|TNC_ENST00000341037.4_Missense_Mutation_p.A2019T	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	2201					bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GGAATTTATGCCCGTTTGCGC	0.502																																						uc004bjj.4																			0				NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						c.(6601-6603)Gca>Aca		Homo sapiens tenascin C (TNC), mRNA.							128.0	114.0	119.0					9																	117783441		2203	4300	6503	SO:0001583	missense	3371				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	g.chr9:117783441C>T		CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.6601G>A	9.37:g.117783441C>T	ENSP00000265131:p.Ala2201Thr					TNC_uc010mvf.3_Missense_Mutation_p.A1928T	p.A2201T	NM_002160	NP_002151	P24821	TENA_HUMAN			27	7013	-			2201					C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	ENST00000350763.4	37	c.6601G>A	CCDS6811.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.467852	0.84533	.	.	ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877	T;T;T;T;T;T;T;T;T	0.54071	0.62;0.64;0.87;0.87;0.64;0.73;0.63;0.87;0.59	5.29	4.38	0.52667	.	0.120458	0.64402	D	0.000018	T	0.49541	0.1563	N	0.11927	0.2	0.25781	N	0.984723	D;D	0.55605	0.972;0.972	P;P	0.57720	0.826;0.826	T	0.48636	-0.9018	10	0.32370	T	0.25	.	15.1678	0.72842	0.1423:0.8577:0.0:0.0	.	1928;2201	E9PC84;P24821	.;TENA_HUMAN	T	1837;1746;1655;1564;2201;2019;1928;1564;1838	ENSP00000344400:A1837T;ENSP00000438152:A1746T;ENSP00000344555:A1655T;ENSP00000345861:A1564T;ENSP00000265131:A2201T;ENSP00000339553:A2019T;ENSP00000411406:A1928T;ENSP00000443478:A1564T;ENSP00000442242:A1838T	ENSP00000344400:A1837T	A	-	1	0	TNC	116823262	1.000000	0.71417	0.996000	0.52242	0.968000	0.65278	4.814000	0.62627	1.205000	0.43262	0.655000	0.94253	GCA		0.502	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160	
OR1L1	26737	broad.mit.edu	37	9	125424265	125424265	+	Missense_Mutation	SNP	A	A	G			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr9:125424265A>G	ENST00000373686.1	+	1	421	c.421A>G	c.(421-423)Acc>Gcc	p.T141A	OR1L1_ENST00000309623.1_Missense_Mutation_p.T91A			Q8NH94	OR1L1_HUMAN	olfactory receptor, family 1, subfamily L, member 1	141						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						AGAGACAAAGACCATCTCTTA	0.433																																						uc022bmz.1																			0				breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						c.(271-273)Acc>Gcc		Homo sapiens olfactory receptor, family 1, subfamily L, member 1 (OR1L1), mRNA.							204.0	199.0	201.0					9																	125424265		2203	4300	6503	SO:0001583	missense	26737				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125424265A>G		CCDS35127.1, CCDS35127.2	9q33.2	2013-09-20			ENSG00000173679	ENSG00000173679		"""GPCR / Class A : Olfactory receptors"""	8213	protein-coding gene	gene with protein product				OR1L2			Standard	NM_001005236		Approved	OR9-C	uc022bmz.1	Q8NH94	OTTHUMG00000020618	ENST00000373686.1:c.421A>G	9.37:g.125424265A>G	ENSP00000362790:p.Thr141Ala						p.T91A	NM_001005236	NP_001005236	Q8NH94	OR1L1_HUMAN			0	271	+			141					Q5T7Z3|Q6IFN2	Missense_Mutation	SNP	ENST00000373686.1	37	c.271A>G		.	.	.	.	.	.	.	.	.	.	A	1.701	-0.501530	0.04261	.	.	ENSG00000173679	ENST00000373686;ENST00000309623	T;T	0.01963	4.53;4.53	3.11	-1.17	0.09648	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.01489	0.0048	N	0.21583	0.68	0.09310	N	1	B	0.06786	0.001	B	0.12156	0.007	T	0.49437	-0.8940	9	0.15066	T	0.55	.	3.8223	0.08841	0.6583:0.0:0.1808:0.1609	rs58911264	141	Q8NH94	OR1L1_HUMAN	A	141;91	ENSP00000362790:T141A;ENSP00000310773:T91A	ENSP00000310773:T91A	T	+	1	0	OR1L1	124464086	0.000000	0.05858	0.092000	0.20876	0.023000	0.10783	-0.556000	0.05992	-0.361000	0.08125	0.260000	0.18958	ACC		0.433	OR1L1-201	KNOWN	basic	protein_coding	protein_coding			
EXD3	54932	broad.mit.edu	37	9	140201420	140201420	+	Silent	SNP	C	C	T			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr9:140201420C>T	ENST00000340951.4	-	22	2808	c.2613G>A	c.(2611-2613)ccG>ccA	p.P871P	EXD3_ENST00000342129.4_Silent_p.P509P	NM_017820.3	NP_060290.3	Q9NX53	MUT7B_HUMAN	exonuclease 3'-5' domain containing 3	0										NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						GACTGCTGGCCGGGCTGGGGG	0.652																																						uc004cmp.2																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						c.(2611-2613)ccG>ccA		Homo sapiens exonuclease 3'-5' domain containing 3 (EXD3), mRNA.							17.0	20.0	19.0					9																	140201420		1907	4094	6001	SO:0001819	synonymous_variant	54932				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding	g.chr9:140201420C>T		CCDS48066.1, CCDS75942.1	9q34.3	2009-03-04			ENSG00000187609	ENSG00000187609			26023	protein-coding gene	gene with protein product							Standard	XM_005266093		Approved	LOC54932, FLJ20433, mut-7	uc004cmp.2	Q8N9H8	OTTHUMG00000156149	ENST00000340951.4:c.2613G>A	9.37:g.140201420C>T						EXD3_uc010ncf.1_Silent_p.P509P	p.P871P	NM_017820	NP_060290	Q8N9H8	MUT7_HUMAN			21	2809	-			871					Q6P1M1|Q8IXT8	Silent	SNP	ENST00000340951.4	37	c.2613G>A	CCDS48066.1																																																																																				0.652	EXD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000343182.1	NM_017820	
FGF13	2258	broad.mit.edu	37	X	137785220	137785220	+	Nonsense_Mutation	SNP	G	G	A			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chrX:137785220G>A	ENST00000315930.6	-	3	989	c.328C>T	c.(328-330)Cga>Tga	p.R110*	FGF13_ENST00000305414.4_Nonsense_Mutation_p.R57*|FGF13_ENST00000441825.2_Nonsense_Mutation_p.R91*|FGF13_ENST00000370603.3_Nonsense_Mutation_p.R120*|FGF13_ENST00000541469.1_Nonsense_Mutation_p.R64*	NM_004114.3	NP_004105.1	Q92913	FGF13_HUMAN	fibroblast growth factor 13	110	Mediates interaction with sodium channels.				cell-cell signaling (GO:0007267)|cerebral cortex cell migration (GO:0021795)|establishment of neuroblast polarity (GO:0045200)|hippocampus development (GO:0021766)|learning (GO:0007612)|MAPK cascade (GO:0000165)|memory (GO:0007613)|microtubule polymerization (GO:0046785)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of microtubule depolymerization (GO:0007026)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|positive regulation of protein kinase activity (GO:0045860)|protein localization to plasma membrane (GO:0072659)|signal transduction (GO:0007165)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular region (GO:0005576)|filopodium (GO:0030175)|growth cone (GO:0030426)|intercalated disc (GO:0014704)|microtubule (GO:0005874)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-tubulin binding (GO:0048487)|growth factor activity (GO:0008083)|ion channel binding (GO:0044325)|microtubule binding (GO:0008017)|protein kinase activator activity (GO:0030295)|sodium channel regulator activity (GO:0017080)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24	Acute lymphoblastic leukemia(192;0.000127)					GCCACCACTCGCAGACCCACA	0.408																																						uc004fam.3																			0		p.R110L(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24						c.(328-330)Cga>Tga		Homo sapiens fibroblast growth factor 13 (FGF13), transcript variant 1, mRNA.							100.0	85.0	90.0					X																	137785220		2203	4300	6503	SO:0001587	stop_gained	2258				cell-cell signaling|MAPKKK cascade|nervous system development	cytoplasm|nucleus	growth factor activity|protein kinase activator activity	g.chrX:137785220G>A	BC034340	CCDS14664.1, CCDS14665.1, CCDS55511.1	Xq26.3	2008-02-05			ENSG00000129682	ENSG00000129682			3670	protein-coding gene	gene with protein product	"""fibroblast growth factor homologous factor 2"""	300070				8790420	Standard	NM_033642		Approved	FHF2, FGF2	uc011mwj.2	Q92913	OTTHUMG00000022532	ENST00000315930.6:c.328C>T	X.37:g.137785220G>A	ENSP00000322390:p.Arg110*					FGF13_uc004fan.3_Nonsense_Mutation_p.R57*|FGF13_uc011mwi.2_Nonsense_Mutation_p.R91*|FGF13_uc004faq.3_Nonsense_Mutation_p.R120*|FGF13_uc004far.3_Nonsense_Mutation_p.R91*|FGF13_uc011mwj.2_Nonsense_Mutation_p.R120*|FGF13_uc011mwk.2_Nonsense_Mutation_p.R64*	p.R110*	NM_004114	NP_004105	Q92913	FGF13_HUMAN			2	990	-	Acute lymphoblastic leukemia(192;0.000127)		110					B1AK18|B7Z4M7|B7Z8N0|D3DWH4|O95830|Q9NZH9|Q9NZI0	Nonsense_Mutation	SNP	ENST00000315930.6	37	c.328C>T	CCDS14665.1	.	.	.	.	.	.	.	.	.	.	G	37	6.351757	0.97498	.	.	ENSG00000129682	ENST00000315930;ENST00000305414;ENST00000441825;ENST00000370603;ENST00000541469;ENST00000436198;ENST00000455663	.	.	.	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.3545	0.87332	0.0:0.0:1.0:0.0	.	.	.	.	X	110;57;91;120;64;120;126	.	ENSP00000303391:R57X	R	-	1	2	FGF13	137612886	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.557000	0.82243	2.311000	0.77944	0.594000	0.82650	CGA		0.408	FGF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058534.2	NM_004114	
