#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
ZBTB17	7709	broad.mit.edu	37	1	16268633	16268633	+	Missense_Mutation	SNP	T	T	C			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr1:16268633T>C	ENST00000375743.4	-	16	2475	c.2243A>G	c.(2242-2244)cAg>cGg	p.Q748R	ZBTB17_ENST00000375733.2_Missense_Mutation_p.Q755R|ZBTB17_ENST00000537142.1_Missense_Mutation_p.Q666R	NM_003443.2	NP_003434.2	Q13105	ZBT17_HUMAN	zinc finger and BTB domain containing 17	748	Interaction with HCFC1.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|ectoderm development (GO:0007398)|endoplasmic reticulum unfolded protein response (GO:0030968)|gastrulation with mouth forming second (GO:0001702)|negative regulation of cell cycle (GO:0045786)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)	15		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		CGCGTCTGTCTGGAACATGAC	0.627																																						uc001axl.3																			0					0						c.(2242-2244)CAG>CGG		zinc finger and BTB domain containing 17							78.0	68.0	72.0					1																	16268633		2203	4300	6503	SO:0001583	missense	7709				negative regulation of cell cycle	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:16268633T>C	U20647	CCDS165.1, CCDS55576.1, CCDS72712.1	1p36.13	2013-01-08	2004-07-16	2004-07-16	ENSG00000116809	ENSG00000116809		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	12936	protein-coding gene	gene with protein product		604084	"""zinc finger protein 151 (pHZ-67)"", ""zinc finger protein 60"""	ZNF151, ZNF60			Standard	NM_003443		Approved	MIZ1, pHZ-67	uc001axl.4	Q13105	OTTHUMG00000009377	ENST00000375743.4:c.2243A>G	1.37:g.16268633T>C	ENSP00000364895:p.Gln748Arg					ZBTB17_uc010obq.1_Missense_Mutation_p.Q665R|ZBTB17_uc010obr.1_Missense_Mutation_p.Q755R|ZBTB17_uc010obs.1_Missense_Mutation_p.Q672R	p.Q748R	NM_003443	NP_003434	Q13105	ZBT17_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)	16	2482	-		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	748			Interaction with HCFC1.		A0AV07|B4DXB4|B7ZLQ9|F5H411|Q15932|Q5JYB2|Q9NUC9	Missense_Mutation	SNP	ENST00000375743.4	37	c.2243A>G	CCDS165.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.399177	0.83120	.	.	ENSG00000116809	ENST00000375743;ENST00000375733;ENST00000444654;ENST00000537142	T;T;T	0.17691	2.46;2.49;2.26	4.71	4.71	0.59529	.	0.000000	0.64402	D	0.000001	T	0.30230	0.0758	L	0.32530	0.975	0.80722	D	1	D;D;P	0.63046	0.992;0.992;0.596	D;D;B	0.72982	0.979;0.979;0.26	T	0.02743	-1.1116	10	0.49607	T	0.09	.	14.482	0.67590	0.0:0.0:0.0:1.0	.	755;666;748	Q13105-2;F5H411;Q13105	.;.;ZBT17_HUMAN	R	748;755;667;666	ENSP00000364895:Q748R;ENSP00000364885:Q755R;ENSP00000438529:Q666R	ENSP00000364885:Q755R	Q	-	2	0	ZBTB17	16141220	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.917000	0.63369	1.877000	0.54381	0.460000	0.39030	CAG		0.627	ZBTB17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025998.1	NM_003443	
WDR63	126820	broad.mit.edu	37	1	85595746	85595746	+	Missense_Mutation	SNP	G	G	A	rs199645222		TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr1:85595746G>A	ENST00000294664.6	+	22	2663	c.2483G>A	c.(2482-2484)cGt>cAt	p.R828H	WDR63_ENST00000370596.1_Missense_Mutation_p.R789H|WDR63_ENST00000326813.8_Missense_Mutation_p.R789H	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	828										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		AAAAAAATTCGTGAGCAAGAA	0.363													G|||	1	0.000199681	0.0	0.0	5008	,	,		18490	0.001		0.0	False		,,,				2504	0.0					uc001dkt.2																			0				upper_aerodigestive_tract(2)|ovary(2)|skin(1)	5						c.(2482-2484)CGT>CAT		WD repeat domain 63							91.0	100.0	97.0					1																	85595746		2203	4300	6503	SO:0001583	missense	126820							g.chr1:85595746G>A		CCDS702.1, CCDS72818.1	1p22.3	2014-02-21	2013-02-19	2013-02-19	ENSG00000162643	ENSG00000162643		"""WD repeat domain containing"""	30711	protein-coding gene	gene with protein product						21953912	Standard	XM_005270438		Approved	DIC3, FLJ30067, NYD-SP29	uc001dkt.3	Q8IWG1	OTTHUMG00000009953	ENST00000294664.6:c.2483G>A	1.37:g.85595746G>A	ENSP00000294664:p.Arg828His					WDR63_uc009wcl.2_Missense_Mutation_p.R789H	p.R828H	NM_145172	NP_660155	Q8IWG1	WDR63_HUMAN		all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)	22	2674	+			828			Potential.		A8K988|Q96L72|Q96NU4	Missense_Mutation	SNP	ENST00000294664.6	37	c.2483G>A	CCDS702.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	12.54	1.967420	0.34754	.	.	ENSG00000162643	ENST00000370596;ENST00000326813;ENST00000294664;ENST00000484007	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	5.43	4.52	0.55395	.	0.207201	0.42053	D	0.000774	T	0.31765	0.0807	M	0.66439	2.03	0.40126	D	0.976663	P;P	0.50943	0.94;0.901	P;B	0.45610	0.487;0.313	T	0.15150	-1.0447	10	0.41790	T	0.15	-16.1661	11.3786	0.49743	0.1496:0.0:0.8504:0.0	.	789;828	Q8IWG1-2;Q8IWG1	.;WDR63_HUMAN	H	789;789;828;110	ENSP00000359628:R789H;ENSP00000317463:R789H;ENSP00000294664:R828H;ENSP00000435544:R110H	ENSP00000294664:R828H	R	+	2	0	WDR63	85368334	1.000000	0.71417	0.996000	0.52242	0.031000	0.12232	5.178000	0.65037	1.296000	0.44742	-0.140000	0.14226	CGT		0.363	WDR63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027565.2	NM_145172	
NUP210L	91181	broad.mit.edu	37	1	154062057	154062057	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr1:154062057C>T	ENST00000368559.3	-	16	2272	c.2201G>A	c.(2200-2202)cGa>cAa	p.R734Q	NUP210L_ENST00000271854.3_Missense_Mutation_p.R734Q	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	734					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			ATTTCCAATTCGGAATGTGAG	0.423																																						uc001fdw.2																			0				skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1)	11						c.(2200-2202)CGA>CAA		nucleoporin 210kDa-like isoform 1							77.0	77.0	77.0					1																	154062057		1892	4122	6014	SO:0001583	missense	91181					integral to membrane		g.chr1:154062057C>T	AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.2201G>A	1.37:g.154062057C>T	ENSP00000357547:p.Arg734Gln					NUP210L_uc009woq.2_5'UTR|NUP210L_uc010peh.1_Missense_Mutation_p.R734Q	p.R734Q	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)		16	2273	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		734					E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Missense_Mutation	SNP	ENST00000368559.3	37	c.2201G>A	CCDS41399.1	.	.	.	.	.	.	.	.	.	.	C	10.05	1.244852	0.22796	.	.	ENSG00000143552	ENST00000368559;ENST00000271854	T;T	0.22945	1.93;1.93	4.57	1.51	0.23008	.	0.150747	0.30752	N	0.008943	T	0.07098	0.0180	L	0.47716	1.5	0.38637	D	0.951515	B;B	0.13594	0.003;0.008	B;B	0.08055	0.003;0.003	T	0.19976	-1.0289	10	0.14656	T	0.56	-27.8864	7.693	0.28579	0.0:0.6275:0.0:0.3725	.	734;734	E7EP56;Q5VU65	.;P210L_HUMAN	Q	734	ENSP00000357547:R734Q;ENSP00000271854:R734Q	ENSP00000271854:R734Q	R	-	2	0	NUP210L	152328681	0.635000	0.27199	0.958000	0.39756	0.942000	0.58702	-0.037000	0.12164	0.129000	0.18514	-0.444000	0.05651	CGA		0.423	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308	
TAGLN2	8407	broad.mit.edu	37	1	159889092	159889092	+	Missense_Mutation	SNP	A	A	G			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr1:159889092A>G	ENST00000368097.4	-	4	740	c.430T>C	c.(430-432)Ttc>Ctc	p.F144L	TAGLN2_ENST00000320307.4_Missense_Mutation_p.F144L|TAGLN2_ENST00000368096.1_Missense_Mutation_p.F165L|TAGLN2_ENST00000478033.1_5'UTR	NM_001277223.1|NM_003564.1	NP_001264152.1|NP_003555.1	P37802	TAGL2_HUMAN	transgelin 2	144					epithelial cell differentiation (GO:0030855)	extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)				endometrium(1)|large_intestine(2)|lung(6)	9	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TCCCCAGAGAAGAGCCCATCA	0.547																																						uc001fum.1																			0					0						c.(430-432)TTC>CTC		transgelin 2							82.0	80.0	81.0					1																	159889092		2203	4300	6503	SO:0001583	missense	8407				muscle organ development	nuclear membrane|plasma membrane	protein binding	g.chr1:159889092A>G	D21261	CCDS1189.1, CCDS60314.1	1q21-q25	2008-07-18			ENSG00000158710	ENSG00000158710			11554	protein-coding gene	gene with protein product	"""SM22-alpha homolog"""	604634				9693045	Standard	NM_001277223		Approved	KIAA0120, HA1756	uc031pqu.1	P37802	OTTHUMG00000022793	ENST00000368097.4:c.430T>C	1.37:g.159889092A>G	ENSP00000357077:p.Phe144Leu					CCDC19_uc001ful.2_Intron|TAGLN2_uc001fun.1_Missense_Mutation_p.F144L|TAGLN2_uc001fuo.1_Missense_Mutation_p.F144L	p.F144L	NM_003564	NP_003555	P37802	TAGL2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		3	480	-	all_hematologic(112;0.0597)		144					E9KL39|Q5JRQ6|Q5JRQ7|Q6FGI1|Q9BUH5|Q9H4P0	Missense_Mutation	SNP	ENST00000368097.4	37	c.430T>C	CCDS1189.1	.	.	.	.	.	.	.	.	.	.	A	20.5	3.997350	0.74818	.	.	ENSG00000158710	ENST00000368097;ENST00000368096;ENST00000320307;ENST00000397334	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	4.56	4.56	0.56223	Calponin homology domain (2);	0.000000	0.46758	U	0.000279	T	0.20373	0.0490	L	0.41824	1.3	0.53005	D	0.999969	B	0.25235	0.121	B	0.30401	0.115	T	0.05716	-1.0868	9	.	.	.	-17.5782	12.1926	0.54280	1.0:0.0:0.0:0.0	.	144	P37802	TAGL2_HUMAN	L	144;165;144;144	ENSP00000357077:F144L;ENSP00000357076:F165L;ENSP00000357075:F144L;ENSP00000412429:F144L	.	F	-	1	0	TAGLN2	158155716	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	8.529000	0.90602	2.043000	0.60533	0.533000	0.62120	TTC		0.547	TAGLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059105.1	NM_003564	
CD244	51744	broad.mit.edu	37	1	160811483	160811483	+	Missense_Mutation	SNP	C	C	G			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr1:160811483C>G	ENST00000368033.3	-	2	352	c.270G>C	c.(268-270)ttG>ttC	p.L90F	CD244_ENST00000481677.1_5'Flank|CD244_ENST00000322302.7_Missense_Mutation_p.L90F|CD244_ENST00000368034.4_Missense_Mutation_p.L90F|CD244_ENST00000368032.2_Missense_Mutation_p.L90F			Q9BZW8	CD244_HUMAN	CD244 molecule, natural killer cell receptor 2B4	90	Ig-like 1.				blood coagulation (GO:0007596)|leukocyte migration (GO:0050900)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	18	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			TGAGAAGACTCAAGTTCTTGA	0.448																																						uc009wtq.2																			0				ovary(1)	1						c.(268-270)TTG>TTC		CD244 natural killer cell receptor 2B4							85.0	81.0	82.0					1																	160811483		2203	4300	6503	SO:0001583	missense	51744				blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|receptor activity	g.chr1:160811483C>G	AF105261	CCDS1210.1, CCDS53398.1, CCDS53399.1	1q23.1	2013-01-11	2006-03-29		ENSG00000122223	ENSG00000122223		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18171	protein-coding gene	gene with protein product		605554	"""natural killer cell receptor 2B4"", ""CD244 natural killer cell receptor 2B4"""			3772297, 10458320	Standard	NM_016382		Approved	2B4, NAIL, NKR2B4, Nmrk, SLAMF4	uc009wtq.3	Q9BZW8	OTTHUMG00000028606	ENST00000368033.3:c.270G>C	1.37:g.160811483C>G	ENSP00000357012:p.Leu90Phe					CD244_uc001fxa.2_Missense_Mutation_p.L90F|CD244_uc009wtp.2_RNA|CD244_uc009wtr.2_Missense_Mutation_p.L90F|CD244_uc010pjt.1_RNA	p.L90F	NM_016382	NP_057466	Q9BZW8	CD244_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00737)		2	448	-	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		90			Extracellular (Potential).|Ig-like 1.		Q5VYI2|Q5VYI6|Q5VYI7|Q96T47|Q9NQD2|Q9NQD3|Q9Y288	Missense_Mutation	SNP	ENST00000368033.3	37	c.270G>C	CCDS53399.1	.	.	.	.	.	.	.	.	.	.	C	0.606	-0.827026	0.02734	.	.	ENSG00000122223	ENST00000368034;ENST00000368033;ENST00000322302;ENST00000368032	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	4.36	-8.72	0.00845	Immunoglobulin subtype (1);Natural killer cell receptor 2B4 immunoglobulin domain (1);Immunoglobulin-like fold (1);	0.642064	0.12920	U	0.428238	T	0.03390	0.0098	N	0.04746	-0.17	0.09310	N	1	B;B;B	0.14438	0.006;0.01;0.004	B;B;B	0.20384	0.015;0.029;0.014	T	0.16364	-1.0405	10	0.21014	T	0.42	-0.1299	1.3125	0.02100	0.2851:0.2204:0.0909:0.4036	.	90;90;90	Q9BZW8-4;Q9BZW8;Q9BZW8-2	.;CD244_HUMAN;.	F	90	ENSP00000357013:L90F;ENSP00000357012:L90F;ENSP00000313619:L90F;ENSP00000357011:L90F	ENSP00000313619:L90F	L	-	3	2	CD244	159078107	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.305000	0.02738	-3.150000	0.00231	-1.909000	0.00523	TTG		0.448	CD244-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071469.1	NM_016382	
HMCN1	83872	broad.mit.edu	37	1	186106708	186106708	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr1:186106708G>A	ENST00000271588.4	+	88	13890	c.13661G>A	c.(13660-13662)cGt>cAt	p.R4554H	HMCN1_ENST00000367492.2_Missense_Mutation_p.R4554H	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4554	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AAGAGGAGTCGTCTGTGCAAC	0.488																																						uc001grq.1																			0				ovary(22)|skin(1)	23						c.(13660-13662)CGT>CAT		hemicentin 1 precursor							71.0	71.0	71.0					1																	186106708		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186106708G>A	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.13661G>A	1.37:g.186106708G>A	ENSP00000271588:p.Arg4554His					HMCN1_uc001grs.1_Missense_Mutation_p.R123H	p.R4554H	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			88	13890	+			4554			TSP type-1 1.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.13661G>A	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	33	5.284133	0.95489	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.65364	-0.15;-0.15	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	D	0.88665	0.6498	H	0.98701	4.305	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92407	0.5934	10	0.62326	D	0.03	.	20.0204	0.97499	0.0:0.0:1.0:0.0	.	4554	Q96RW7	HMCN1_HUMAN	H	4554	ENSP00000271588:R4554H;ENSP00000356462:R4554H	ENSP00000271588:R4554H	R	+	2	0	HMCN1	184373331	1.000000	0.71417	0.998000	0.56505	0.779000	0.44077	7.588000	0.82629	2.729000	0.93468	0.650000	0.86243	CGT		0.488	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935	
IGFN1	91156	broad.mit.edu	37	1	201196177	201196177	+	Missense_Mutation	SNP	C	C	T	rs142381894	byFrequency	TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr1:201196177C>T	ENST00000335211.4	+	23	11084	c.10954C>T	c.(10954-10956)Cgc>Tgc	p.R3652C	IGFN1_ENST00000295591.8_3'UTR	NM_001164586.1	NP_001158058.1	Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1	1195						nucleus (GO:0005634)|Z disc (GO:0030018)				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CAAGAATGACCGCAGCCTGGA	0.672													C|||	4	0.000798722	0.0	0.0	5008	,	,		17465	0.003		0.0	False		,,,				2504	0.001					uc001gwc.2																			0				ovary(2)|pancreas(1)	3						c.(2434-2436)CGC>TGC		RecName: Full=Immunoglobulin-like and fibronectin type III domain-containing protein 1; AltName: Full=EEF1A2-binding protein 1; AltName: Full=KY-interacting protein 1;		C	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	69.0	53.0	58.0		10954	-1.0	0.0	1	dbSNP_134	58	2,8598	2.2+/-6.3	0,2,4298	yes	missense	IGFN1	NM_001164586.1	180	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	possibly-damaging	3652/3709	201196177	3,13003	2203	4300	6503	SO:0001583	missense	91156							g.chr1:201196177C>T	AY245430	CCDS53455.1	1q32.1	2013-02-11			ENSG00000163395	ENSG00000163395		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	24607	protein-coding gene	gene with protein product							Standard	NM_001164586		Approved	DKFZp434B1231, EEF1A2BP1	uc001gwc.3	Q86VF2	OTTHUMG00000035728	ENST00000335211.4:c.10954C>T	1.37:g.201196177C>T	ENSP00000334714:p.Arg3652Cys					IGFN1_uc001gwb.2_RNA	p.R812C	NM_178275	NP_840059					12	3206	+								F8WAI1|Q9NT72	Missense_Mutation	SNP	ENST00000335211.4	37	c.2434C>T	CCDS53455.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.86|10.86	1.468868|1.468868	0.26335|0.26335	2.27E-4|2.27E-4	2.33E-4|2.33E-4	ENSG00000163395|ENSG00000163395	ENST00000412892|ENST00000335211	.|T	.|0.68025	.|-0.3	5.06|5.06	-0.991|-0.991	0.10235|0.10235	.|.	.|0.968221	.|0.08547	.|N	.|0.929557	T|T	0.73644|0.73644	0.3613|0.3613	M|M	0.62209|0.62209	1.925|1.925	0.09310|0.09310	N|N	0.999996|0.999996	.|D	.|0.71674	.|0.998	.|D	.|0.69824	.|0.966	T|T	0.60151|0.60151	-0.7319|-0.7319	5|10	.|0.66056	.|D	.|0.02	.|.	3.9445|3.9445	0.09343|0.09343	0.2052:0.3629:0.3488:0.0831|0.2052:0.3629:0.3488:0.0831	.|.	.|3652	.|F8WAI1	.|.	L|C	1069|3652	.|ENSP00000334714:R3652C	.|ENSP00000334714:R3652C	P|R	+|+	2|1	0|0	IGFN1|IGFN1	199462800|199462800	0.001000|0.001000	0.12720|0.12720	0.041000|0.041000	0.18516|0.18516	0.011000|0.011000	0.07611|0.07611	0.291000|0.291000	0.18994|0.18994	0.166000|0.166000	0.19597|0.19597	-0.221000|-0.221000	0.12465|0.12465	CCG|CGC		0.672	IGFN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_178275	
GCSAML	148823	broad.mit.edu	37	1	247712512	247712512	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr1:247712512C>T	ENST00000366488.4	+	1	123	c.19C>T	c.(19-21)Cga>Tga	p.R7*	GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000366489.1_Nonsense_Mutation_p.R7*|GCSAML_ENST00000536561.1_Nonsense_Mutation_p.R7*|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000366491.2_Nonsense_Mutation_p.R7*|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000366490.3_Silent_p.C127C	NM_001281836.1|NM_001281837.1|NM_001281853.1|NM_145278.3	NP_001268765.1|NP_001268766.1|NP_001268782.1|NP_660321.1	Q5JQS6	GSAML_HUMAN	germinal center-associated, signaling and motility-like	7								p.R7R(1)|p.C127*(1)									TTATCTCCTGCGAAAACTCAG	0.468																																						uc001idf.2																			2	Substitution - Nonsense(1)|Substitution - coding silent(1)		lung(2)		0						c.(19-21)CGA>TGA		hypothetical protein LOC148823							95.0	87.0	90.0					1																	247712512		2203	4300	6503	SO:0001587	stop_gained	148823							g.chr1:247712512C>T	AK126682	CCDS1635.1, CCDS60470.1, CCDS73058.1	1q44	2012-08-23	2012-08-23	2012-08-23	ENSG00000169224	ENSG00000169224			29583	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 150"""	C1orf150			Standard	NM_001281834		Approved	FLJ44728	uc001idf.3	Q5JQS6	OTTHUMG00000040648	ENST00000366488.4:c.19C>T	1.37:g.247712512C>T	ENSP00000355444:p.Arg7*					C1orf150_uc009xgw.2_Intron|C1orf150_uc001ida.3_RNA|C1orf150_uc001idb.3_RNA|C1orf150_uc009xgx.2_Intron	p.R7*	NM_145278	NP_660321	Q5JQS6	CA150_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0241)		1	64	+	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		7					B2R4Y5|B3KX46|Q5JQT3	Nonsense_Mutation	SNP	ENST00000366488.4	37	c.19C>T	CCDS1635.1	.	.	.	.	.	.	.	.	.	.	C	37	6.217729	0.97385	.	.	ENSG00000169224	ENST00000366491;ENST00000366489;ENST00000526896;ENST00000366488;ENST00000536561	.	.	.	3.26	-2.48	0.06423	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.6788	11.557	0.50755	0.2794:0.7206:0.0:0.0	.	.	.	.	X	7	.	ENSP00000355444:R7X	R	+	1	2	C1orf150	245779135	0.002000	0.14202	0.000000	0.03702	0.978000	0.69477	-0.619000	0.05572	-0.497000	0.06641	-0.467000	0.05162	CGA		0.468	GCSAML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097745.4	NM_145278	
OR2T12	127064	broad.mit.edu	37	1	248458330	248458330	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr1:248458330C>T	ENST00000317996.1	-	1	550	c.551G>A	c.(550-552)cGt>cAt	p.R184H		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	184						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	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;0.0201)			ACAAGCCAAACGCACCAACAC	0.552																																						uc010pzj.1																			0				skin(2)|ovary(1)	3						c.(550-552)CGT>CAT		olfactory receptor, family 2, subfamily T,							174.0	131.0	145.0					1																	248458330		2201	4298	6499	SO:0001583	missense	127064				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248458330C>T	BK004485	CCDS31110.1	1q44	2012-08-09			ENSG00000177201	ENSG00000177201		"""GPCR / Class A : Olfactory receptors"""	19592	protein-coding gene	gene with protein product							Standard	NM_001004692		Approved		uc010pzj.2	Q8NG77	OTTHUMG00000040457	ENST00000317996.1:c.551G>A	1.37:g.248458330C>T	ENSP00000324583:p.Arg184His						p.R184H	NM_001004692	NP_001004692	Q8NG77	O2T12_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0201)		1	551	-	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)		184			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000317996.1	37	c.551G>A	CCDS31110.1	.	.	.	.	.	.	.	.	.	.	c	10.09	1.253645	0.22965	.	.	ENSG00000177201	ENST00000317996	T	0.00137	8.68	1.55	-3.09	0.05331	GPCR, rhodopsin-like superfamily (1);	0.529203	0.14321	U	0.327030	T	0.00073	0.0002	N	0.16066	0.365	0.09310	N	1	B	0.32188	0.359	B	0.29524	0.103	T	0.17137	-1.0379	10	0.52906	T	0.07	.	3.7402	0.08527	0.0:0.3871:0.2015:0.4114	.	184	Q8NG77	O2T12_HUMAN	H	184	ENSP00000324583:R184H	ENSP00000324583:R184H	R	-	2	0	OR2T12	246524953	0.000000	0.05858	0.067000	0.19924	0.380000	0.30137	-3.284000	0.00527	-0.207000	0.10187	0.175000	0.17021	CGT		0.552	OR2T12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097353.1	NM_001004692	
OR10A6	390093	broad.mit.edu	37	11	7949287	7949287	+	Missense_Mutation	SNP	C	C	T	rs538357088		TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr11:7949287C>T	ENST00000309838.2	-	1	922	c.923G>A	c.(922-924)cGa>cAa	p.R308Q		NM_001004461.1	NP_001004461.1	Q8NH74	O10A6_HUMAN	olfactory receptor, family 10, subfamily A, member 6	308						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TAAAACCACTCGCCTTCGCCA	0.363																																						uc010rbh.1																			0				ovary(1)|skin(1)	2						c.(922-924)CGA>CAA		olfactory receptor, family 10, subfamily A,							130.0	117.0	122.0					11																	7949287		2201	4296	6497	SO:0001583	missense	390093				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:7949287C>T	AB065515	CCDS31420.1	11p15.4	2012-08-09			ENSG00000175393	ENSG00000175393		"""GPCR / Class A : Olfactory receptors"""	15132	protein-coding gene	gene with protein product							Standard	NM_001004461		Approved		uc010rbh.2	Q8NH74	OTTHUMG00000165671	ENST00000309838.2:c.923G>A	11.37:g.7949287C>T	ENSP00000312470:p.Arg308Gln						p.R308Q	NM_001004461	NP_001004461	Q8NH74	O10A6_HUMAN		Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	1	923	-			308			Cytoplasmic (Potential).		Q6IF59	Missense_Mutation	SNP	ENST00000309838.2	37	c.923G>A	CCDS31420.1	.	.	.	.	.	.	.	.	.	.	C	1.603	-0.526107	0.04141	.	.	ENSG00000175393	ENST00000309838	T	0.38560	1.13	4.4	-5.95	0.02241	.	0.390477	0.17644	N	0.166909	T	0.14270	0.0345	N	0.14661	0.345	0.09310	N	1	B	0.17465	0.022	B	0.04013	0.001	T	0.18999	-1.0319	10	0.15952	T	0.53	.	1.1259	0.01735	0.2303:0.3224:0.1168:0.3305	.	308	Q8NH74	O10A6_HUMAN	Q	308	ENSP00000312470:R308Q	ENSP00000312470:R308Q	R	-	2	0	OR10A6	7905863	0.241000	0.23857	0.033000	0.17914	0.001000	0.01503	0.208000	0.17415	-1.282000	0.02396	-1.105000	0.02106	CGA		0.363	OR10A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385703.1	NM_001004461	
AMBRA1	55626	broad.mit.edu	37	11	46439460	46439461	+	Intron	INS	-	-	A			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr11:46439460_46439461insA	ENST00000458649.2	-	15	3535				AMBRA1_ENST00000533727.1_Intron|AMBRA1_ENST00000314845.3_Intron|AMBRA1_ENST00000426438.1_Intron|AMBRA1_ENST00000534300.1_Intron|AMBRA1_ENST00000528950.1_Intron|AMBRA1_ENST00000298834.3_Intron			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1						autophagy (GO:0006914)|cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neural tube development (GO:0021915)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|phagocytic vesicle (GO:0045335)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		TTAAGCCACTTACTCTGGTCGG	0.525																																						uc010rgu.1																			0				large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.e15+1		activating molecule in beclin-1-regulated																																				SO:0001627	intron_variant	55626				autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle		g.chr11:46439460_46439461insA	AB051523	CCDS31475.1, CCDS58132.1, CCDS73281.1	11p11.2	2013-01-09			ENSG00000110497	ENSG00000110497		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	25990	protein-coding gene	gene with protein product	"""WD repeat domain 94"", ""DDB1 and CUL4 associated factor 3"""	611359				17622796, 17603510, 17589504	Standard	NM_001267782		Approved	FLJ20294, KIAA1736, WDR94, DCAF3	uc001ncv.3	Q9C0C7	OTTHUMG00000166500	ENST00000458649.2:c.3116+1->T	11.37:g.46439461_46439461dupA						AMBRA1_uc010rgt.1_Splice_Site_p.E605_splice|AMBRA1_uc009ylc.1_Splice_Site_p.E1010_splice|AMBRA1_uc001ncu.1_Splice_Site_p.E949_splice|AMBRA1_uc001ncv.2_Splice_Site_p.E1042_splice|AMBRA1_uc001ncw.2_Splice_Site_p.E920_splice|AMBRA1_uc001ncx.2_Splice_Site_p.E979_splice	p.E1039_splice	NM_017749	NP_060219	Q9C0C7	AMRA1_HUMAN		GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)	15	3476	-								A6XN33|D3DQP8|G3V193|Q86XD6|Q9H8Z0|Q9NXE7	Splice_Site	INS	ENST00000458649.2	37	c.3116_splice																																																																																					0.525	AMBRA1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000390103.1	NM_017749	
OR5A1	219982	broad.mit.edu	37	11	59211010	59211010	+	Silent	SNP	C	C	T	rs139346783	byFrequency	TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr11:59211010C>T	ENST00000302030.2	+	1	394	c.369C>T	c.(367-369)taC>taT	p.Y123Y		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	123						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						CTATGGCATACGACCGATATG	0.542													.|||	3	0.000599042	0.0015	0.0	5008	,	,		19580	0.0		0.0	False		,,,				2504	0.001					uc001nnx.1																			0				ovary(1)|central_nervous_system(1)	2						c.(367-369)TAC>TAT		olfactory receptor, family 5, subfamily A,		C		3,4399	6.2+/-15.9	0,3,2198	244.0	227.0	233.0		369	-6.7	0.0	11	dbSNP_134	233	1,8589	1.2+/-3.3	0,1,4294	no	coding-synonymous	OR5A1	NM_001004728.1		0,4,6492	TT,TC,CC		0.0116,0.0682,0.0308		123/316	59211010	4,12988	2201	4295	6496	SO:0001819	synonymous_variant	219982				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59211010C>T	AB065804	CCDS31561.1	11q12.1	2012-08-09			ENSG00000172320	ENSG00000172320		"""GPCR / Class A : Olfactory receptors"""	8319	protein-coding gene	gene with protein product				OR5A1P			Standard	NM_001004728		Approved	OST181	uc001nnx.1	Q8NGJ0	OTTHUMG00000167339	ENST00000302030.2:c.369C>T	11.37:g.59211010C>T							p.Y123Y	NM_001004728	NP_001004728	Q8NGJ0	OR5A1_HUMAN			1	369	+			123			Helical; Name=3; (Potential).		B9EH58|Q6IFF2|Q96RB1	Silent	SNP	ENST00000302030.2	37	c.369C>T	CCDS31561.1																																																																																				0.542	OR5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394233.1	NM_001004728	
STX3	6809	broad.mit.edu	37	11	59564776	59564776	+	Silent	SNP	G	G	T			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr11:59564776G>T	ENST00000337979.4	+	10	1354	c.807G>T	c.(805-807)gtG>gtT	p.V269V	STX3_ENST00000529177.1_Intron|STX3_ENST00000300150.7_Silent_p.V238V|STX3_ENST00000535361.1_Silent_p.V232V|STX3_ENST00000437946.2_Intron	NM_001178040.1|NM_004177.4	NP_001171511.1|NP_004168.1	Q13277	STX3_HUMAN	syntaxin 3	269					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|long-term synaptic potentiation (GO:0060291)|membrane fusion (GO:0061025)|neuron projection development (GO:0031175)|neurotransmitter transport (GO:0006836)	apical plasma membrane (GO:0016324)|azurophil granule (GO:0042582)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|SNARE complex (GO:0031201)|specific granule (GO:0042581)|vacuole (GO:0005773)	arachidonic acid binding (GO:0050544)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|skin(1)	13						TTATCATTGTGCTAGTAGTTG	0.363																																						uc001nog.2																			0				ovary(2)	2						c.(805-807)GTG>GTT		syntaxin 3							269.0	239.0	249.0					11																	59564776		2201	4295	6496	SO:0001819	synonymous_variant	6809				cellular response to oxidative stress|intracellular protein transport|neuron projection development|neurotransmitter transport	apical plasma membrane|azurophil granule|cell-cell junction|growth cone|integral to membrane|plasma membrane enriched fraction|SNARE complex|specific granule	arachidonic acid binding|SNAP receptor activity	g.chr11:59564776G>T	AJ002076	CCDS7975.1, CCDS53637.1	11q12.1	2008-02-05	2006-04-25	2006-04-25	ENSG00000166900	ENSG00000166900			11438	protein-coding gene	gene with protein product		600876	"""syntaxin 3A"""	STX3A		16598260, 16339081	Standard	NM_004177		Approved		uc001nog.3	Q13277	OTTHUMG00000167353	ENST00000337979.4:c.807G>T	11.37:g.59564776G>T						STX3_uc010rkx.1_Intron|STX3_uc010rky.1_Intron|STX3_uc009ymt.1_Silent_p.V135V	p.V269V	NM_004177	NP_004168	Q13277	STX3_HUMAN			10	997	+			269			Helical; Anchor for type IV membrane protein; (Potential).		B4DME0|O43750|O43751|Q15360	Silent	SNP	ENST00000337979.4	37	c.807G>T	CCDS7975.1																																																																																				0.363	STX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394264.1	NM_004177	
SLC3A2	6520	broad.mit.edu	37	11	62652817	62652817	+	Missense_Mutation	SNP	G	G	T			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr11:62652817G>T	ENST00000377890.2	+	9	1458	c.1290G>T	c.(1288-1290)tgG>tgT	p.W430C	SLC3A2_ENST00000377891.2_Missense_Mutation_p.W431C|SLC3A2_ENST00000377892.1_Missense_Mutation_p.W461C|SLC3A2_ENST00000377889.2_Missense_Mutation_p.W368C|SLC3A2_ENST00000536981.1_5'UTR|SLC3A2_ENST00000338663.7_Missense_Mutation_p.W329C|SLC3A2_ENST00000535296.1_Missense_Mutation_p.W399C|SLC3A2_ENST00000538682.1_3'UTR	NM_002394.5	NP_002385.3	P08195	4F2_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 2	430					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|carbohydrate metabolic process (GO:0005975)|cell growth (GO:0016049)|ion transport (GO:0006811)|leucine import (GO:0060356)|leukocyte migration (GO:0050900)|response to exogenous dsRNA (GO:0043330)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|tryptophan transport (GO:0015827)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)|catalytic activity (GO:0003824)|cation binding (GO:0043169)|double-stranded RNA binding (GO:0003725)|neutral amino acid transmembrane transporter activity (GO:0015175)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						GCAATCGCTGGTGCAGCTGGA	0.517																																						uc001nwd.2																			0					0						c.(1288-1290)TGG>TGT		solute carrier family 3, member 2 isoform c							89.0	90.0	90.0					11																	62652817		2201	4298	6499	SO:0001583	missense	6520				blood coagulation|carbohydrate metabolic process|cell growth|cellular nitrogen compound metabolic process|leucine import|leukocyte migration|tryptophan transport	apical plasma membrane|cell surface|integral to membrane|melanosome	calcium:sodium antiporter activity|catalytic activity|cation binding|neutral amino acid transmembrane transporter activity|protein binding	g.chr11:62652817G>T		CCDS8039.2, CCDS31588.1, CCDS31589.1, CCDS31590.1	11q12-q22	2013-07-19	2013-07-19		ENSG00000168003	ENSG00000168003		"""Solute carriers"""	11026	protein-coding gene	gene with protein product	"""antigen identified by monoclonal antibodies 4F2, TRA1.10, TROP4, and T43"", ""antigen defined by monoclonal antibody 4F2"", ""heavy chain"", ""4F2 heavy chain"", ""CD98 heavy chain"", ""monoclonal antibody 44D7"", ""4F2 cell-surface antigen heavy chain"", ""lymphocyte activation antigen 4F2 large subunit"""	158070	"""solute carrier family 3 (activators of dibasic and neutral amino acid transport), member 2"""	MDU1		3036867	Standard	NM_001012662		Approved	4T2HC, 4F2, NACAE, CD98, CD98HC, 4F2HC	uc001nwd.3	P08195	OTTHUMG00000074091	ENST00000377890.2:c.1290G>T	11.37:g.62652817G>T	ENSP00000367122:p.Trp430Cys					SLC3A2_uc001nwb.2_Missense_Mutation_p.W461C|SLC3A2_uc001nwc.2_Missense_Mutation_p.W431C|SLC3A2_uc001nwe.2_Missense_Mutation_p.W399C|SLC3A2_uc001nwf.2_Missense_Mutation_p.W368C|SLC3A2_uc001nwg.2_Missense_Mutation_p.W329C	p.W430C	NM_002394	NP_002385	P08195	4F2_HUMAN			9	1514	+			430			Extracellular (Potential).		Q13543	Missense_Mutation	SNP	ENST00000377890.2	37	c.1290G>T	CCDS8039.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.16|16.16	3.044994|3.044994	0.55110|0.55110	.|.	.|.	ENSG00000168003|ENSG00000168003	ENST00000539507|ENST00000377892;ENST00000377891;ENST00000377890;ENST00000542007;ENST00000377889;ENST00000535296;ENST00000338663;ENST00000422606	.|D;D;D;D;D;D	.|0.99060	.|-4.94;-4.94;-4.94;-4.94;-5.38;-4.94	4.95|4.95	4.95|4.95	0.65309|0.65309	.|Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	.|0.300651	.|0.35970	.|N	.|0.002872	D|D	0.99278|0.99278	0.9748|0.9748	M|M	0.86953|0.86953	2.85|2.85	0.58432|0.58432	D|D	0.999999|0.999999	.|D;D;D;D;D	.|0.89917	.|1.0;0.999;1.0;1.0;1.0	.|D;D;D;D;D	.|0.83275	.|0.996;0.966;0.98;0.966;0.966	D|D	0.99000|0.99000	1.0811|1.0811	5|10	.|0.72032	.|D	.|0.01	-8.2263|-8.2263	13.7072|13.7072	0.62646|0.62646	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|368;399;430;329;461	.|P08195-3;F5GZS6;P08195;P08195-2;P08195-4	.|.;.;4F2_HUMAN;.;.	L|C	57|461;431;430;431;368;399;329;311	.|ENSP00000367124:W461C;ENSP00000367123:W431C;ENSP00000367122:W430C;ENSP00000367121:W368C;ENSP00000444236:W399C;ENSP00000340815:W329C	.|ENSP00000340815:W329C	V|W	+|+	1|3	0|0	SLC3A2|SLC3A2	62409393|62409393	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.624000|0.624000	0.37722|0.37722	5.153000|5.153000	0.64888|0.64888	2.288000|2.288000	0.76882|0.76882	0.313000|0.313000	0.20887|0.20887	GTG|TGG		0.517	SLC3A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000157306.1	NM_001012661	
MFAP5	8076	broad.mit.edu	37	12	8813465	8813465	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr12:8813465G>A	ENST00000359478.2	-	3	275	c.88C>T	c.(88-90)Cga>Tga	p.R30*	MFAP5_ENST00000396549.2_Nonsense_Mutation_p.R30*|MFAP5_ENST00000543369.1_Intron|MFAP5_ENST00000433590.2_Nonsense_Mutation_p.R30*|MFAP5_ENST00000535336.1_Nonsense_Mutation_p.R30*|MFAP5_ENST00000538107.1_5'UTR|MFAP5_ENST00000540087.1_Nonsense_Mutation_p.R30*	NM_003480.2	NP_003471.1	Q13361	MFAP5_HUMAN	microfibrillar associated protein 5	30					extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|microfibril (GO:0001527)	extracellular matrix structural constituent (GO:0005201)			breast(1)|endometrium(2)|large_intestine(4)|lung(5)|skin(1)	13	Lung SC(5;0.184)					CTACCTCCTCGTTGACTATTG	0.438																																						uc001qut.1																			0				breast(1)	1						c.(88-90)CGA>TGA		microfibrillar associated protein 5 precursor							89.0	88.0	88.0					12																	8813465		2203	4300	6503	SO:0001587	stop_gained	8076					microfibril	extracellular matrix structural constituent	g.chr12:8813465G>A	AK124368	CCDS8595.1, CCDS73437.1	12p13.1-p12.3	2004-04-05				ENSG00000197614			29673	protein-coding gene	gene with protein product		601103				9792630, 8557636	Standard	XM_005253485		Approved	MAGP2, MP25	uc001qut.1	Q13361		ENST00000359478.2:c.88C>T	12.37:g.8813465G>A	ENSP00000352455:p.Arg30*					MFAP5_uc001qus.2_Nonsense_Mutation_p.R30*|MFAP5_uc009zge.1_Nonsense_Mutation_p.R30*	p.R30*	NM_003480	NP_003471	Q13361	MFAP5_HUMAN			3	301	-	Lung SC(5;0.184)		30			Cell attachment site (Potential).		B0AZL6|D3DUV1|Q7Z490	Nonsense_Mutation	SNP	ENST00000359478.2	37	c.88C>T	CCDS8595.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.411614	0.83340	.	.	ENSG00000197614	ENST00000359478;ENST00000433590;ENST00000396549;ENST00000535336;ENST00000540087;ENST00000544889	.	.	.	4.81	1.87	0.25490	.	0.165528	0.28901	N	0.013777	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.0776	7.533	0.27693	0.0:0.182:0.5017:0.3162	.	.	.	.	X	30	.	ENSP00000352455:R30X	R	-	1	2	MFAP5	8704732	1.000000	0.71417	0.664000	0.29753	0.214000	0.24535	1.182000	0.32029	0.278000	0.22164	0.655000	0.94253	CGA		0.438	MFAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400656.2	NM_003480	
RPL13AP20	387841	broad.mit.edu	37	12	13028751	13028751	+	IGR	SNP	G	G	C	rs199863259		TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr12:13028751G>C								DDX47 (45836 upstream) : GPRC5A (14964 downstream)																							GGTGTTTGACGGCATCCCACC	0.612																																						uc010sho.1																			0					0						c.(319-321)GGC>CGC		SubName: Full=Ribosomal protein L13a variant; Flags: Fragment;																																				SO:0001628	intergenic_variant	387841							g.chr12:13028751G>C																													12.37:g.13028751G>C							p.G107R	NR_003932						1	341	+									Missense_Mutation	SNP		37	c.319G>C																																																																																				0	0.612								
CD63	967	broad.mit.edu	37	12	56120552	56120552	+	Missense_Mutation	SNP	G	G	A	rs200393279		TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr12:56120552G>A	ENST00000549117.1	-	5	794	c.358C>T	c.(358-360)Cgg>Tgg	p.R120W	CD63_ENST00000546939.1_Missense_Mutation_p.R38W|CD63_ENST00000548160.1_Missense_Mutation_p.R27W|CD63_ENST00000552692.1_Missense_Mutation_p.R120W|CD63_ENST00000257857.4_Missense_Mutation_p.R120W|CD63_ENST00000550776.1_Missense_Mutation_p.R38W|CD63_ENST00000552067.1_Missense_Mutation_p.R27W|CD63_ENST00000552754.1_Missense_Mutation_p.R97W|RP11-644F5.11_ENST00000552576.1_RNA|CD63_ENST00000548898.1_Missense_Mutation_p.R27W|CD63_ENST00000420846.3_Missense_Mutation_p.R120W	NM_001257389.1	NP_001244318.1	P08962	CD63_HUMAN	CD63 molecule	120					blood coagulation (GO:0007596)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular protein localization (GO:0034613)|endosome to melanosome transport (GO:0035646)|pigment granule maturation (GO:0048757)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of receptor internalization (GO:0002092)|protein transport (GO:0015031)|regulation of rubidium ion transport (GO:2000680)|regulation of vascular endothelial growth factor signaling pathway (GO:1900746)	cell surface (GO:0009986)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|multivesicular body, internal vesicle (GO:0097487)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)		p.R120W(1)		kidney(1)|large_intestine(3)|lung(2)|ovary(1)	7						ATCTGCTGCCGGAAGTTGTTA	0.557													G|||	1	0.000199681	0.0	0.0	5008	,	,		18913	0.001		0.0	False		,,,				2504	0.0				Pancreas(123;1459 1747 6717 18841 37380)	uc001shm.2																			1	Substitution - Missense(1)		lung(1)		0						c.(358-360)CGG>TGG		CD63 antigen isoform A		G	TRP/ARG,TRP/ARG	4,4402	8.1+/-20.4	0,4,2199	136.0	128.0	131.0		358,358	3.3	0.5	12		131	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	CD63	NM_001040034.1,NM_001780.4	101,101	0,5,6498	AA,AG,GG		0.0116,0.0908,0.0384	probably-damaging,probably-damaging	120/237,120/239	56120552	5,13001	2203	4300	6503	SO:0001583	missense	967				platelet activation|platelet degranulation	integral to plasma membrane|late endosome membrane|lysosomal membrane|platelet dense granule membrane		g.chr12:56120552G>A	M58485	CCDS8890.1, CCDS58242.1, CCDS58243.1	12q12-q13	2013-02-14	2006-03-28					"""CD molecules"", ""Tetraspanins"""	1692	protein-coding gene	gene with protein product		155740	"""CD63 antigen (melanoma 1 antigen)"""	MLA1			Standard	NM_001780		Approved	ME491, TSPAN30	uc031qhv.1	P08962		ENST00000549117.1:c.358C>T	12.37:g.56120552G>A	ENSP00000447730:p.Arg120Trp					CD63_uc009znz.2_Missense_Mutation_p.R97W|CD63_uc001shn.2_Missense_Mutation_p.R120W|CD63_uc001sho.2_Missense_Mutation_p.R120W|CD63_uc001shp.2_Missense_Mutation_p.R120W	p.R120W	NM_001780	NP_001771	P08962	CD63_HUMAN			4	454	-			120			Extracellular (Potential).		F8VZE2|Q5TZP3|Q8N6Z9|Q9UCG6	Missense_Mutation	SNP	ENST00000549117.1	37	c.358C>T	CCDS8890.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	14.99	2.700889	0.48307	9.08E-4	1.16E-4	ENSG00000135404	ENST00000548898;ENST00000552067;ENST00000420846;ENST00000548160;ENST00000546939;ENST00000552692;ENST00000549117;ENST00000257857;ENST00000552754;ENST00000550776;ENST00000552164;ENST00000551173;ENST00000546457	D;D;D;D;D;D;D;D;D;D;D;D;D	0.87809	-2.3;-2.3;-2.3;-2.3;-2.3;-2.3;-2.3;-2.3;-2.3;-2.3;-2.3;-2.3;-2.3	5.2	3.33	0.38152	Tetraspanin, EC2 domain (1);	1.256540	0.05643	N	0.583841	D	0.89511	0.6736	L	0.47190	1.495	0.32200	N	0.577882	D;D;D	0.71674	0.998;0.981;0.981	P;P;P	0.55303	0.72;0.773;0.773	T	0.80948	-0.1154	10	0.72032	D	0.01	.	10.8995	0.47043	0.0:0.0:0.6573:0.3427	.	97;120;120	Q8N6Z9;C9JV86;P08962	.;.;CD63_HUMAN	W	27;27;120;27;38;120;120;120;97;38;120;120;120	ENSP00000447938:R27W;ENSP00000449684:R27W;ENSP00000393502:R120W;ENSP00000449654:R27W;ENSP00000447356:R38W;ENSP00000449337:R120W;ENSP00000447730:R120W;ENSP00000257857:R120W;ENSP00000446807:R97W;ENSP00000448091:R38W;ENSP00000449281:R120W;ENSP00000446752:R120W;ENSP00000450191:R120W	ENSP00000257857:R120W	R	-	1	2	CD63	54406819	0.926000	0.31397	0.507000	0.27676	0.173000	0.22820	1.247000	0.32815	0.681000	0.31386	-0.293000	0.09583	CGG		0.557	CD63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409234.1		
TMEM132B	114795	broad.mit.edu	37	12	126138636	126138636	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr12:126138636C>T	ENST00000299308.3	+	9	2625	c.2617C>T	c.(2617-2619)Ccc>Tcc	p.P873S	TMEM132B_ENST00000535886.1_Missense_Mutation_p.P385S	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	873						integral component of membrane (GO:0016021)				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		TACAAGCTTCCCCACTCAAGG	0.507																																						uc001uhe.1																			0				skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1)	19						c.(2617-2619)CCC>TCC		transmembrane protein 132B							66.0	64.0	65.0					12																	126138636		1936	4127	6063	SO:0001583	missense	114795					integral to membrane		g.chr12:126138636C>T	AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.2617C>T	12.37:g.126138636C>T	ENSP00000299308:p.Pro873Ser					TMEM132B_uc001uhf.1_Missense_Mutation_p.P385S	p.P873S	NM_052907	NP_443139	Q14DG7	T132B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)	9	2625	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		873			Extracellular (Potential).		A2RRG8|Q8NA73|Q96JN9|Q96PY1	Missense_Mutation	SNP	ENST00000299308.3	37	c.2617C>T	CCDS41859.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.533051	0.85812	.	.	ENSG00000139364	ENST00000299308;ENST00000535886	T;T	0.15603	2.41;2.41	5.43	5.43	0.79202	.	0.000000	0.64402	D	0.000006	T	0.42585	0.1209	M	0.64170	1.965	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.24693	-1.0153	10	0.72032	D	0.01	.	19.2594	0.93961	0.0:1.0:0.0:0.0	.	873	Q14DG7	T132B_HUMAN	S	873;385	ENSP00000299308:P873S;ENSP00000440436:P385S	ENSP00000299308:P873S	P	+	1	0	TMEM132B	124704589	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	5.790000	0.69038	2.543000	0.85770	0.655000	0.94253	CCC		0.507	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907	
EP400	57634	broad.mit.edu	37	12	132514624	132514624	+	Missense_Mutation	SNP	A	A	G			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr12:132514624A>G	ENST00000333577.4	+	30	5892	c.5783A>G	c.(5782-5784)gAc>gGc	p.D1928G	EP400_ENST00000330386.6_Missense_Mutation_p.D1811G|EP400_ENST00000332482.4_Missense_Mutation_p.D1855G|SNORA49_ENST00000386157.1_RNA|EP400_ENST00000389561.2_Missense_Mutation_p.D1892G|EP400_ENST00000389562.2_Missense_Mutation_p.D1891G			Q96L91	EP400_HUMAN	E1A binding protein p400	1928	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CTTATGTTGGACATTTTAGAG	0.413																																						uc001ujn.2																			0				central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12						c.(5674-5676)GAC>GGC		E1A binding protein p400							217.0	199.0	205.0					12																	132514624		2203	4300	6503	SO:0001583	missense	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132514624A>G	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.5783A>G	12.37:g.132514624A>G	ENSP00000333602:p.Asp1928Gly					EP400_uc001ujl.2_Missense_Mutation_p.D1891G|EP400_uc001ujm.2_Missense_Mutation_p.D1811G|SNORA49_uc001ujo.2_5'Flank	p.D1892G	NM_015409	NP_056224	Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	28	5710	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	1928			Helicase C-terminal.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP	ENST00000333577.4	37	c.5675A>G		.	.	.	.	.	.	.	.	.	.	A	16.75	3.208661	0.58343	.	.	ENSG00000183495	ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000541296	D;D;D;D;T	0.93859	-3.3;-3.3;-3.3;-3.3;-1.2	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	D	0.96361	0.8813	M	0.72576	2.205	0.54753	D	0.999983	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	D	0.96760	0.9560	10	0.87932	D	0	.	16.4886	0.84191	1.0:0.0:0.0:0.0	.	1892;1811;1891	Q96L91-2;Q96L91-4;Q96L91-5	.;.;.	G	1928;1892;1891;1855;1811;1892	ENSP00000333602:D1928G;ENSP00000374212:D1892G;ENSP00000374213:D1891G;ENSP00000331737:D1855G;ENSP00000330620:D1811G	ENSP00000330620:D1811G	D	+	2	0	EP400	131080577	1.000000	0.71417	0.759000	0.31340	0.942000	0.58702	9.339000	0.96797	2.293000	0.77203	0.528000	0.53228	GAC		0.413	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409	
FLT1	2321	broad.mit.edu	37	13	28896953	28896953	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr13:28896953C>T	ENST00000282397.4	-	21	3178	c.2927G>A	c.(2926-2928)aGt>aAt	p.S976N	FLT1_ENST00000540678.1_Missense_Mutation_p.S194N|FLT1_ENST00000543394.1_5'Flank	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	976	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|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 receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	ATCACTCAGACTTTTATCTTC	0.438																																						uc001usb.3																			0				lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1)	24						c.(2926-2928)AGT>AAT		fms-related tyrosine kinase 1 isoform 1	Sunitinib(DB01268)						168.0	154.0	159.0					13																	28896953		2203	4300	6503	SO:0001583	missense	2321				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	g.chr13:28896953C>T	AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3763	protein-coding gene	gene with protein product	"""vascular endothelial growth factor receptor 1"", ""vascular permeability factor receptor"""	165070	"""fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"""	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.2927G>A	13.37:g.28896953C>T	ENSP00000282397:p.Ser976Asn					FLT1_uc010aap.2_5'Flank|FLT1_uc010aaq.2_Missense_Mutation_p.S101N|FLT1_uc001usa.3_Missense_Mutation_p.S194N	p.S976N	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	21	3212	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	976			Cytoplasmic (Potential).|Protein kinase.		A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Missense_Mutation	SNP	ENST00000282397.4	37	c.2927G>A	CCDS9330.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.290604	0.80914	.	.	ENSG00000102755	ENST00000282397;ENST00000540678	T;T	0.79454	-1.06;-1.27	5.9	5.9	0.94986	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.175050	0.64402	D	0.000017	T	0.69205	0.3085	N	0.17764	0.52	0.80722	D	1	P	0.34724	0.465	B	0.39027	0.288	T	0.69213	-0.5204	10	0.42905	T	0.14	.	15.7841	0.78289	0.0:0.8646:0.1354:0.0	.	976	P17948	VGFR1_HUMAN	N	976;194	ENSP00000282397:S976N;ENSP00000443311:S194N	ENSP00000282397:S976N	S	-	2	0	FLT1	27794953	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.552000	0.60747	2.822000	0.97130	0.556000	0.70494	AGT		0.438	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1		
PCCA	5095	broad.mit.edu	37	13	100915068	100915068	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr13:100915068C>T	ENST00000376285.1	+	10	840	c.802C>T	c.(802-804)Cgt>Tgt	p.R268C	PCCA_ENST00000376286.4_Missense_Mutation_p.R242C|PCCA_ENST00000376279.3_Missense_Mutation_p.R268C	NM_000282.3	NP_000273.2	P05165	PCCA_HUMAN	propionyl CoA carboxylase, alpha polypeptide	268	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.|Biotin carboxylation.				biotin metabolic process (GO:0006768)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|propionyl-CoA carboxylase activity (GO:0004658)			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2)	26	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Biotin(DB00121)	TGATAATCCTCGTCATATAGA	0.279																																						uc001voo.2																			0				skin(2)	2						c.(802-804)CGT>TGT		propionyl-Coenzyme A carboxylase, alpha	Biotin(DB00121)						100.0	116.0	110.0					13																	100915068		2199	4299	6498	SO:0001583	missense	5095				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity	g.chr13:100915068C>T	X14608	CCDS9496.2, CCDS45065.1, CCDS53878.1	13q32	2011-01-14	2010-04-30		ENSG00000175198	ENSG00000175198	6.4.1.3		8653	protein-coding gene	gene with protein product		232000	"""propionyl Coenzyme A carboxylase, alpha polypeptide"""			1427880	Standard	NM_000282		Approved		uc001voo.3	P05165	OTTHUMG00000017284	ENST00000376285.1:c.802C>T	13.37:g.100915068C>T	ENSP00000365462:p.Arg268Cys					PCCA_uc010aga.2_Missense_Mutation_p.R242C|PCCA_uc010tiz.1_Missense_Mutation_p.R268C	p.R268C	NM_000282	NP_000273	P05165	PCCA_HUMAN			10	840	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		268			ATP-grasp.|Biotin carboxylation.		B4DKY8|B4DPF9|C9JPQ8|Q15979|Q8WXQ7	Missense_Mutation	SNP	ENST00000376285.1	37	c.802C>T	CCDS9496.2	.	.	.	.	.	.	.	.	.	.	C	18.14	3.557348	0.65425	.	.	ENSG00000175198	ENST00000376286;ENST00000376279;ENST00000376285	D;D;D	0.97941	-4.62;-4.62;-4.62	5.23	5.23	0.72850	ATP-grasp fold (1);ATP-grasp fold, subdomain 2 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (1);Biotin carboxylation domain (1);	0.000000	0.85682	D	0.000000	D	0.99468	0.9811	H	0.99783	4.775	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.97762	1.0221	10	0.87932	D	0	.	18.7849	0.91951	0.0:1.0:0.0:0.0	.	268;242;268	C9JPQ8;P05165-2;P05165	.;.;PCCA_HUMAN	C	242;268;268	ENSP00000365463:R242C;ENSP00000365456:R268C;ENSP00000365462:R268C	ENSP00000365456:R268C	R	+	1	0	PCCA	99713069	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.293000	0.59037	2.416000	0.81992	0.655000	0.94253	CGT		0.279	PCCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045627.2		
GRTP1	79774	broad.mit.edu	37	13	114009782	114009782	+	Missense_Mutation	SNP	G	G	A	rs376648575		TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr13:114009782G>A	ENST00000375431.4	-	3	270	c.196C>T	c.(196-198)Cgg>Tgg	p.R66W	GRTP1_ENST00000375430.4_Missense_Mutation_p.R66W|GRTP1_ENST00000326039.3_5'Flank|GRTP1-AS1_ENST00000419199.1_RNA|GRTP1-AS1_ENST00000423246.1_RNA	NM_024719.2	NP_078995.2	Q5TC63	GRTP1_HUMAN	growth hormone regulated TBC protein 1	66							Rab GTPase activator activity (GO:0005097)	p.R66W(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	14	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0314)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0978)|Breast(118;0.188)	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)			ACCCCTTTCCGGACATAGCGC	0.657																																						uc001vtn.2																			1	Substitution - Missense(1)		endometrium(1)		0						c.(196-198)CGG>TGG		growth hormone regulated TBC protein 1		G	TRP/ARG	0,4406		0,0,2203	32.0	32.0	32.0		196	2.3	1.0	13		32	1,8599	1.2+/-3.3	0,1,4299	no	missense	GRTP1	NM_024719.2	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	66/337	114009782	1,13005	2203	4300	6503	SO:0001583	missense	79774					intracellular	Rab GTPase activator activity	g.chr13:114009782G>A	AK026127	CCDS9534.2, CCDS66591.1, CCDS73606.1	13q34	2011-11-30			ENSG00000139835	ENSG00000139835			20310	protein-coding gene	gene with protein product						11564724	Standard	NM_001286732		Approved	FLJ22474, TBC1D6	uc001vtn.3	Q5TC63	OTTHUMG00000017381	ENST00000375431.4:c.196C>T	13.37:g.114009782G>A	ENSP00000364580:p.Arg66Trp					GRTP1_uc010tkb.1_5'UTR|GRTP1_uc010tkc.1_Missense_Mutation_p.R66W|GRTP1_uc010agv.1_RNA	p.R66W	NM_024719	NP_078995	Q5TC63	GRTP1_HUMAN	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)		3	293	-	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0314)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0978)|Breast(118;0.188)	66					B9A6K2|Q2M232|Q5TC64|Q66K26|Q6P659|Q8N528|Q9H695	Missense_Mutation	SNP	ENST00000375431.4	37	c.196C>T	CCDS9534.2	.	.	.	.	.	.	.	.	.	.	G	18.46	3.629421	0.67015	0.0	1.16E-4	ENSG00000139835	ENST00000375431;ENST00000375430	T;T	0.04551	3.6;3.6	4.37	2.34	0.29019	Rab-GAP/TBC domain (2);	0.000000	0.85682	U	0.000000	T	0.26122	0.0637	M	0.93939	3.475	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.13124	-1.0521	10	0.87932	D	0	.	10.2057	0.43112	0.0:0.0:0.3811:0.6189	.	66;66	B9A6K2;Q5TC63	.;GRTP1_HUMAN	W	66	ENSP00000364580:R66W;ENSP00000364579:R66W	ENSP00000364579:R66W	R	-	1	2	GRTP1	113057783	1.000000	0.71417	0.996000	0.52242	0.779000	0.44077	2.530000	0.45641	0.984000	0.38629	0.491000	0.48974	CGG		0.657	GRTP1-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000045882.5	NM_024719	
CMA1	1215	broad.mit.edu	37	14	24976583	24976583	+	Missense_Mutation	SNP	G	G	A	rs13306251	byFrequency	TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr14:24976583G>A	ENST00000250378.3	-	2	217	c.188C>T	c.(187-189)aCg>aTg	p.T63M	RP11-80A15.1_ENST00000555109.1_Intron|CMA1_ENST00000206446.4_Intron	NM_001836.3	NP_001827.1	P23946	CMA1_HUMAN	chymase 1, mast cell	63	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|cellular response to glucose stimulus (GO:0071333)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|interleukin-1 beta biosynthetic process (GO:0050720)|midbrain development (GO:0030901)|peptide metabolic process (GO:0006518)|positive regulation of angiogenesis (GO:0045766)|regulation of inflammatory response (GO:0050727)	extracellular region (GO:0005576)|intracellular (GO:0005622)	peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			kidney(1)|lung(8)|pancreas(1)|prostate(1)	11				GBM - Glioblastoma multiforme(265;0.0271)		ATGAGCAGCCGTCAGCACAAA	0.488													G|||	5	0.000998403	0.0	0.0	5008	,	,		19023	0.001		0.0	False		,,,				2504	0.0041					uc001wpp.1																			0					0						c.(187-189)ACG>ATG		chymase 1, mast cell preproprotein		G	MET/THR	0,4406		0,0,2203	132.0	126.0	128.0		188	5.0	1.0	14	dbSNP_121	128	1,8599	1.2+/-3.3	0,1,4299	no	missense	CMA1	NM_001836.2	81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	63/248	24976583	1,13005	2203	4300	6503	SO:0001583	missense	1215				interleukin-1 beta biosynthetic process|proteolysis	extracellular region	serine-type endopeptidase activity	g.chr14:24976583G>A		CCDS9630.1	14q12	2012-08-30			ENSG00000092009	ENSG00000092009	3.4.21.39		2097	protein-coding gene	gene with protein product		118938				8468056	Standard	NM_001836		Approved		uc001wpp.1	P23946	OTTHUMG00000140181	ENST00000250378.3:c.188C>T	14.37:g.24976583G>A	ENSP00000250378:p.Thr63Met					CMA1_uc010alx.1_Intron	p.T63M	NM_001836	NP_001827	P23946	CMA1_HUMAN		GBM - Glioblastoma multiforme(265;0.0271)	2	218	-			63			Peptidase S1.		B5BUM8|Q16018|Q3SY36|Q3SY37|Q9UDH5	Missense_Mutation	SNP	ENST00000250378.3	37	c.188C>T	CCDS9630.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	18.63	3.666101	0.67700	0.0	1.16E-4	ENSG00000092009	ENST00000250378	D	0.81908	-1.55	5.01	5.01	0.66863	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.53938	D	0.000056	D	0.93239	0.7846	H	0.98199	4.17	0.80722	D	1	D	0.89917	1.0	P	0.58928	0.848	D	0.94940	0.8090	10	0.72032	D	0.01	.	14.0034	0.64446	0.0:0.0:1.0:0.0	rs13306251;rs13306251	63	P23946	CMA1_HUMAN	M	63	ENSP00000250378:T63M	ENSP00000250378:T63M	T	-	2	0	CMA1	24046423	0.998000	0.40836	0.955000	0.39395	0.773000	0.43773	3.381000	0.52455	2.766000	0.95052	0.655000	0.94253	ACG		0.488	CMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276535.2		
UNC79	57578	broad.mit.edu	37	14	94103593	94103593	+	Silent	SNP	C	C	T			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr14:94103593C>T	ENST00000393151.2	+	33	5865	c.5865C>T	c.(5863-5865)aaC>aaT	p.N1955N	UNC79_ENST00000555664.1_Silent_p.N1916N|UNC79_ENST00000256339.4_Silent_p.N1778N|UNC79_ENST00000553484.1_Silent_p.N1977N			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1955					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.N1977K(1)|p.N1778K(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						gccagtgtaacgtgccaacgt	0.468																																						uc001ybv.1																			2	Substitution - Missense(2)		lung(2)	ovary(10)|skin(4)|large_intestine(3)	17						c.(5398-5400)AAC>AAT		hypothetical protein LOC57578							157.0	116.0	130.0					14																	94103593		2203	4300	6503	SO:0001819	synonymous_variant	57578					integral to membrane		g.chr14:94103593C>T	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.5865C>T	14.37:g.94103593C>T						KIAA1409_uc001ybs.1_Silent_p.N1778N	p.N1800N	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN		Epithelial(152;0.188)	31	5483	+		all_cancers(154;0.0354)|all_epithelial(191;0.216)	1955					B5MDL6|Q6ZUT7	Silent	SNP	ENST00000393151.2	37	c.5400C>T																																																																																					0.468	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395	
GABRA5	2558	broad.mit.edu	37	15	27193304	27193304	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr15:27193304G>A	ENST00000335625.5	+	11	2201	c.1313G>A	c.(1312-1314)gGc>gAc	p.G438D	GABRA5_ENST00000400081.3_Missense_Mutation_p.G438D|GABRA5_ENST00000355395.5_Missense_Mutation_p.G438D	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	438					associative learning (GO:0008306)|behavioral fear response (GO:0001662)|brain development (GO:0007420)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zopiclone(DB01198)	GTCTTGTTCGGCACTTTCAAC	0.438																																						uc001zbd.1																			0				ovary(1)	1						c.(1312-1314)GGC>GAC		gamma-aminobutyric acid A receptor, alpha 5	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						37.0	35.0	36.0					15																	27193304		1836	4094	5930	SO:0001583	missense	2558				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr15:27193304G>A		CCDS45194.1	15q12	2012-06-22			ENSG00000186297	ENSG00000186297		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4079	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 5"""	137142				1321750	Standard	NM_000810		Approved		uc021sgi.1	P31644	OTTHUMG00000171824	ENST00000335625.5:c.1313G>A	15.37:g.27193304G>A	ENSP00000335592:p.Gly438Asp					GABRA5_uc001zbe.1_RNA	p.G438D	NM_000810	NP_000801	P31644	GBRA5_HUMAN		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	12	1652	+		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)	438			Helical; (Potential).		A8K338|Q14DC2|Q53XL6|Q9NYT3|Q9NYT4|Q9NYT5	Missense_Mutation	SNP	ENST00000335625.5	37	c.1313G>A	CCDS45194.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.012805	0.75161	.	.	ENSG00000186297	ENST00000335625;ENST00000355395;ENST00000400081	D;D;D	0.85861	-2.04;-2.04;-2.04	5.06	5.06	0.68205	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.048250	0.85682	N	0.000000	D	0.90573	0.7045	M	0.69358	2.11	0.80722	D	1	D	0.67145	0.996	D	0.74674	0.984	D	0.90673	0.4599	10	0.54805	T	0.06	.	13.5119	0.61517	0.0:0.1564:0.8436:0.0	.	438	P31644	GBRA5_HUMAN	D	438	ENSP00000335592:G438D;ENSP00000347557:G438D;ENSP00000382953:G438D	ENSP00000335592:G438D	G	+	2	0	GABRA5	24776050	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.411000	0.73298	2.503000	0.84419	0.655000	0.94253	GGC		0.438	GABRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415234.1		
PCSK6	5046	broad.mit.edu	37	15	101971636	101971636	+	Silent	SNP	C	C	T			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr15:101971636C>T	ENST00000348070.1	-	5	542	c.543G>A	c.(541-543)tcG>tcA	p.S181S	PCSK6_ENST00000331826.7_Silent_p.S16S|PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000358417.3_Silent_p.S181S|PCSK6_ENST00000398181.2_Silent_p.S181S|PCSK6_ENST00000344273.2_Silent_p.S181S	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	182					determination of left/right symmetry (GO:0007368)|glycoprotein metabolic process (GO:0009100)|nerve growth factor processing (GO:0032455)|nerve growth factor production (GO:0032902)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|regulation of BMP signaling pathway (GO:0030510)|secretion by cell (GO:0032940)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|nerve growth factor binding (GO:0048406)|serine-type endopeptidase activity (GO:0004252)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CATTCATTTCCGACCGGCAGC	0.532																																						uc002bwy.2																			0				pancreas(2)	2						c.(544-546)TCG>TCA		paired basic amino acid cleaving system 4							69.0	70.0	70.0					15																	101971636		2062	4212	6274	SO:0001819	synonymous_variant	5046				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity	g.chr15:101971636C>T		CCDS73789.1, CCDS73790.1, CCDS73791.1, CCDS73792.1, CCDS73793.1	15q26	2008-07-18	2004-06-14	2004-06-16		ENSG00000140479			8569	protein-coding gene	gene with protein product	"""subtilisin-like protease"", ""subtilisin-like proprotein convertase 4"", ""subtilisin/kexin-like protease PACE4"""	167405	"""paired basic amino acid cleaving system 4"""	PACE4		1741956	Standard	NM_002570		Approved	SPC4	uc002bwy.3	P29122		ENST00000348070.1:c.543G>A	15.37:g.101971636C>T						PCSK6_uc010bpd.2_Silent_p.S52S|PCSK6_uc010bpe.2_Silent_p.S182S|PCSK6_uc002bxa.2_Silent_p.S182S|PCSK6_uc002bxb.2_Silent_p.S182S|PCSK6_uc002bxc.1_Silent_p.S182S|PCSK6_uc002bxd.1_Silent_p.S182S|PCSK6_uc002bxe.2_Silent_p.S182S|PCSK6_uc002bxg.1_Silent_p.S182S	p.S182S	NM_002570	NP_002561	P29122	PCSK6_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		5	860	-	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		182			Catalytic.		Q15099|Q15100|Q9UEG7|Q9UEJ1|Q9UEJ2|Q9UEJ7|Q9UEJ8|Q9UEJ9|Q9Y4G9|Q9Y4H0|Q9Y4H1	Silent	SNP	ENST00000348070.1	37	c.546G>A																																																																																					0.532	PCSK6-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_002570	
EDC4	23644	broad.mit.edu	37	16	67917522	67917522	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr16:67917522G>A	ENST00000358933.5	+	28	4140	c.3901G>A	c.(3901-3903)Gac>Aac	p.D1301N	NRN1L_ENST00000339176.3_5'Flank|CTC-479C5.10_ENST00000572067.1_lincRNA|NRN1L_ENST00000576147.1_5'Flank	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	1301					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		TGAAACTGTGGACCCAGCCCA	0.547											OREG0023890	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002eur.2																			0				ovary(2)|central_nervous_system(2)	4						c.(3901-3903)GAC>AAC		autoantigen RCD8							168.0	177.0	174.0					16																	67917522		2198	4300	6498	SO:0001583	missense	23644				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr16:67917522G>A	U17474	CCDS10849.1	16q22.1	2008-02-05			ENSG00000038358	ENSG00000038358			17157	protein-coding gene	gene with protein product		606030				9067524	Standard	NM_014329		Approved	RCD-8, Ge-1, HEDLS	uc002eur.3	Q6P2E9	OTTHUMG00000137543	ENST00000358933.5:c.3901G>A	16.37:g.67917522G>A	ENSP00000351811:p.Asp1301Asn		OREG0023890	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1103	EDC4_uc010cer.2_Missense_Mutation_p.D920N|EDC4_uc002eus.2_Missense_Mutation_p.D1031N|EDC4_uc002eut.1_3'UTR|NRN1L_uc002euu.2_5'Flank	p.D1301N	NM_014329	NP_055144	Q6P2E9	EDC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	28	4067	+		Ovarian(137;0.0563)	1301					A6NGM1|A8K4T4|Q13025|Q13826|Q6ZR12|Q7Z6H7	Missense_Mutation	SNP	ENST00000358933.5	37	c.3901G>A	CCDS10849.1	.	.	.	.	.	.	.	.	.	.	G	34	5.408966	0.96072	.	.	ENSG00000038358	ENST00000358933	.	.	.	5.52	5.52	0.82312	.	0.043748	0.85682	D	0.000000	T	0.61464	0.2349	M	0.64404	1.975	0.80722	D	1	P	0.50443	0.935	P	0.45406	0.479	T	0.60546	-0.7242	9	0.31617	T	0.26	-22.5554	19.0455	0.93018	0.0:0.0:1.0:0.0	.	1301	Q6P2E9	EDC4_HUMAN	N	1301	.	ENSP00000351811:D1301N	D	+	1	0	EDC4	66475023	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.578000	0.98200	2.597000	0.87782	0.655000	0.94253	GAC		0.547	EDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268874.2	NM_014329	
PDPR	55066	broad.mit.edu	37	16	70172800	70172800	+	Splice_Site	SNP	A	A	G			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr16:70172800A>G	ENST00000288050.4	+	11	2147		c.e11-1		PDPR_ENST00000562100.1_Splice_Site|PDPR_ENST00000398122.3_Splice_Site|PDPR_ENST00000568530.1_Splice_Site	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit						cellular metabolic process (GO:0044237)|glycine catabolic process (GO:0006546)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|oxidoreductase activity (GO:0016491)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		CTGTCTATATAGGTACCTTGC	0.443																																						uc002eyf.1																			0				breast(1)	1						c.e11-2		pyruvate dehydrogenase phosphatase regulatory							72.0	75.0	74.0					16																	70172800		1884	4124	6008	SO:0001630	splice_region_variant	55066				glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity	g.chr16:70172800A>G		CCDS45520.1	16q22.1	2010-08-24			ENSG00000090857	ENSG00000090857			30264	protein-coding gene	gene with protein product						9395502	Standard	NM_017990		Approved	PDP3	uc002eyf.1	Q8NCN5		ENST00000288050.4:c.1191-1A>G	16.37:g.70172800A>G						CLEC18C_uc002exy.2_Intron|PDPR_uc010vlr.1_Splice_Site_p.K297_splice|PDPR_uc002eyg.1_Splice_Site_p.K125_splice	p.K397_splice	NM_017990	NP_060460	Q8NCN5	PDPR_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.124)	11	2148	+								A7E298|A8K8Y7|B3KSE1|Q6AI20|Q6AWC9	Splice_Site	SNP	ENST00000288050.4	37	c.1191_splice	CCDS45520.1	.	.	.	.	.	.	.	.	.	.	.	17.91	3.504308	0.64410	.	.	ENSG00000090857	ENST00000288050;ENST00000398122;ENST00000205055	.	.	.	4.22	4.22	0.49857	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.4915	0.55903	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PDPR	68730301	1.000000	0.71417	0.927000	0.36925	0.320000	0.28249	9.084000	0.94076	1.535000	0.49220	0.254000	0.18369	.		0.443	PDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434502.1	NM_017990	Intron
PIK3R5	23533	broad.mit.edu	37	17	8784974	8784974	+	Silent	SNP	G	G	A			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr17:8784974G>A	ENST00000447110.1	-	17	2479	c.2355C>T	c.(2353-2355)aaC>aaT	p.N785N	PIK3R5_ENST00000581552.1_Silent_p.N785N|PIK3R5_ENST00000584803.1_Silent_p.N784N	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	785					blood coagulation (GO:0007596)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|G-protein beta/gamma-subunit complex binding (GO:0031683)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						TGGATTTGGAGTTCTGCCTTT	0.547																																					NSCLC(18;589 615 7696 20311 50332)	uc002glt.2																			0				breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5						c.(2353-2355)AAC>AAT		phosphoinositide-3-kinase, regulatory subunit 5							206.0	180.0	189.0					17																	8784974		2203	4300	6503	SO:0001819	synonymous_variant	23533				platelet activation	cytosol|membrane|nucleus		g.chr17:8784974G>A	AF128881	CCDS11147.1, CCDS73986.1	17p13.1	2011-10-13	2008-02-04		ENSG00000141506	ENSG00000141506			30035	protein-coding gene	gene with protein product		611317				12507995	Standard	NM_014308		Approved	P101-PI3K, p101	uc002glt.3	Q8WYR1	OTTHUMG00000108197	ENST00000447110.1:c.2355C>T	17.37:g.8784974G>A						PIK3R5_uc010vuz.1_Silent_p.N785N|PIK3R5_uc002glu.3_Silent_p.N399N	p.N785N	NM_014308	NP_055123	Q8WYR1	PI3R5_HUMAN			17	2422	-			785					B0LPH4|D3DTS3|Q5G936|Q5G938|Q5G939|Q8IZ23|Q9Y2Y2	Silent	SNP	ENST00000447110.1	37	c.2355C>T	CCDS11147.1																																																																																				0.547	PIK3R5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000227003.2	NM_014308	
SPACA3	124912	broad.mit.edu	37	17	31322667	31322667	+	Missense_Mutation	SNP	G	G	A	rs368023924		TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr17:31322667G>A	ENST00000269053.3	+	2	345	c.275G>A	c.(274-276)cGt>cAt	p.R92H	SPACA3_ENST00000580599.1_Missense_Mutation_p.R23H|SPACA3_ENST00000394638.1_Intron|SPACA3_ENST00000394637.2_3'UTR	NM_173847.3	NP_776246.1	Q8IXA5	SACA3_HUMAN	sperm acrosome associated 3	92					cell wall macromolecule catabolic process (GO:0016998)|defense response to Gram-positive bacterium (GO:0050830)|monocyte activation (GO:0042117)|peptidoglycan catabolic process (GO:0009253)|positive regulation of macrophage activation (GO:0043032)|positive regulation of phagocytosis (GO:0050766)|response to virus (GO:0009615)|sperm-egg recognition (GO:0035036)	acrosomal vesicle (GO:0001669)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|secretory granule (GO:0030141)	lysozyme activity (GO:0003796)	p.R92H(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(9;0.193)			CTCTACGGTCGTTGTGAACTG	0.617																																						uc002hhs.1																			1	Substitution - Missense(1)		large_intestine(1)	ovary(2)	2						c.(274-276)CGT>CAT		sperm acrosome associated 3		G	HIS/ARG	0,4406		0,0,2203	106.0	70.0	82.0		275	3.7	1.0	17		82	1,8599	1.2+/-3.3	0,1,4299	no	missense	SPACA3	NM_173847.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	92/216	31322667	1,13005	2203	4300	6503	SO:0001583	missense	124912				cell wall macromolecule catabolic process|defense response to Gram-positive bacterium|monocyte activation|peptidoglycan catabolic process|positive regulation of macrophage activation|positive regulation of phagocytosis|response to virus	acrosomal membrane|extracellular region|integral to membrane|lysosome	bacterial cell surface binding|lysozyme activity|protein binding	g.chr17:31322667G>A	AF216311, AF099029	CCDS11275.1	17q12	2014-07-23			ENSG00000141316	ENSG00000141316			16260	protein-coding gene	gene with protein product	"""cancer/testis antigen 54"", ""sperm lyzozyme-like acrosomal protein 1"""	612749				12606493	Standard	NM_173847		Approved	ALLP17, SLLP1, LYC3, LYZL3, CT54	uc002hhs.1	Q8IXA5	OTTHUMG00000132886	ENST00000269053.3:c.275G>A	17.37:g.31322667G>A	ENSP00000269053:p.Arg92His					SPACA3_uc010cte.1_RNA	p.R92H	NM_173847	NP_776246	Q8IXA5	SACA3_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.193)		2	350	+			92			Extracellular (Potential).		Q7Z4Y5	Missense_Mutation	SNP	ENST00000269053.3	37	c.275G>A	CCDS11275.1	.	.	.	.	.	.	.	.	.	.	g	15.44	2.832902	0.50951	0.0	1.16E-4	ENSG00000141316	ENST00000269053;ENST00000394637	T	0.73681	-0.77	3.67	3.67	0.42095	Lysozyme-like domain (1);	0.158649	0.35708	N	0.003025	D	0.85835	0.5789	M	0.91249	3.19	0.80722	D	1	D	0.64830	0.994	P	0.59056	0.851	D	0.86669	0.1909	10	0.87932	D	0	-1.3152	11.1864	0.48660	0.0:0.0:1.0:0.0	.	92	Q8IXA5	SACA3_HUMAN	H	92;93	ENSP00000269053:R92H	ENSP00000269053:R92H	R	+	2	0	SPACA3	28346780	0.994000	0.37717	0.990000	0.47175	0.101000	0.19017	3.292000	0.51772	0.455000	0.26910	-0.411000	0.06167	CGT		0.617	SPACA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256380.1	NM_173847	
KRTAP1-1	81851	broad.mit.edu	37	17	39197393	39197393	+	Missense_Mutation	SNP	T	T	C	rs201732142		TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr17:39197393T>C	ENST00000306271.4	-	1	320	c.257A>G	c.(256-258)tAc>tGc	p.Y86C		NM_030967.2	NP_112229.1	Q07627	KRA11_HUMAN	keratin associated protein 1-1	86			Missing (in allele KAP1.7). {ECO:0000269|PubMed:11841537}.			keratin filament (GO:0045095)		p.Y86C(4)		NS(2)|endometrium(2)|kidney(5)|lung(4)|prostate(1)	14		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GCTGGTCTGGTAGCAGCTTGG	0.587																																						uc002hvw.1																			4	Substitution - Missense(4)		lung(2)|kidney(1)|endometrium(1)		0						c.(256-258)TAC>TGC		keratin associated protein 1-1							47.0	51.0	49.0					17																	39197393		2010	4190	6200	SO:0001583	missense	81851					extracellular region|keratin filament		g.chr17:39197393T>C	AJ406926	CCDS42324.1	17q21.2	2014-06-05			ENSG00000188581	ENSG00000188581		"""Keratin associated proteins"""	16772	protein-coding gene	gene with protein product		608819				11279113	Standard	NM_030967		Approved	KAP1.1B, HB2A, KAP1.1, KAP1.1A	uc002hvw.1	Q07627	OTTHUMG00000133592	ENST00000306271.4:c.257A>G	17.37:g.39197393T>C	ENSP00000305975:p.Tyr86Cys						p.Y86C	NM_030967	NP_112229	Q07627	KRA11_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	321	-		Breast(137;0.000496)	86		Missing (in allele KAP1.7).			A6NC32|Q96S60|Q96S67	Missense_Mutation	SNP	ENST00000306271.4	37	c.257A>G	CCDS42324.1	.	.	.	.	.	.	.	.	.	.	T	0.037	-1.304092	0.01353	.	.	ENSG00000188581	ENST00000306271;ENST00000543328	T	0.27557	1.66	4.0	-7.99	0.01131	.	.	.	.	.	T	0.01940	0.0061	N	0.00002	-3.6	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42361	-0.9456	9	0.02654	T	1	.	3.8365	0.08896	0.3382:0.2456:0.3404:0.0759	.	86	Q07627	KRA11_HUMAN	C	86;76	ENSP00000305975:Y86C	ENSP00000305975:Y86C	Y	-	2	0	KRTAP1-1	36450919	0.001000	0.12720	0.000000	0.03702	0.075000	0.17131	-0.958000	0.03857	-1.490000	0.01842	-0.977000	0.02584	TAC		0.587	KRTAP1-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257696.1	NM_030967	
EFCAB13	124989	broad.mit.edu	37	17	45490276	45490276	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr17:45490276G>A	ENST00000331493.2	+	22	2827	c.2416G>A	c.(2416-2418)Gtc>Atc	p.V806I	EFCAB13_ENST00000517484.1_Missense_Mutation_p.V710I|CTD-2026D20.2_ENST00000523101.1_RNA	NM_152347.4	NP_689560.3	Q8IY85	EFC13_HUMAN	EF-hand calcium binding domain 13	806	EF-hand 5.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)										CTGTTGTAACGTCAGTGGTGA	0.353																																						uc002iln.2																			0				breast(1)|central_nervous_system(1)|skin(1)	3						c.(2416-2418)GTC>ATC		hypothetical protein LOC124989							129.0	129.0	129.0					17																	45490276		2203	4300	6503	SO:0001583	missense	124989						calcium ion binding	g.chr17:45490276G>A	BC036407	CCDS11512.1, CCDS56034.1	17q21.32	2013-01-11	2012-07-20	2012-07-20	ENSG00000178852	ENSG00000178852		"""EF-hand domain containing"""	26864	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 57"""	C17orf57			Standard	NM_152347		Approved	FLJ40342	uc002iln.3	Q8IY85	OTTHUMG00000164767	ENST00000331493.2:c.2416G>A	17.37:g.45490276G>A	ENSP00000332111:p.Val806Ile					C17orf57_uc002ilm.2_Missense_Mutation_p.V710I	p.V806I	NM_152347	NP_689560	Q8IY85	CQ057_HUMAN			22	2827	+			806			EF-hand 5.		G3V128|Q49AG9	Missense_Mutation	SNP	ENST00000331493.2	37	c.2416G>A	CCDS11512.1	.	.	.	.	.	.	.	.	.	.	G	0.185	-1.058750	0.01950	.	.	ENSG00000178852	ENST00000331493;ENST00000517484	T;T	0.23754	1.89;1.89	3.24	0.474	0.16768	EF-hand-like domain (1);	0.924169	0.09074	N	0.852374	T	0.07954	0.0199	N	0.01109	-1.01	0.09310	N	1	B;B	0.19445	0.036;0.001	B;B	0.09377	0.004;0.001	T	0.29822	-0.9999	10	0.42905	T	0.14	-0.039	5.373	0.16150	0.7284:0.0:0.2716:0.0	.	806;710	Q8IY85;G3V128	CQ057_HUMAN;.	I	806;710	ENSP00000332111:V806I;ENSP00000430048:V710I	ENSP00000332111:V806I	V	+	1	0	C17orf57	42845275	0.000000	0.05858	0.054000	0.19295	0.156000	0.22039	-0.135000	0.10420	-0.001000	0.14495	-0.676000	0.03789	GTC		0.353	EFCAB13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380147.4	NM_152347	
SPAG9	9043	broad.mit.edu	37	17	49071128	49071128	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr17:49071128G>A	ENST00000262013.7	-	19	2603	c.2395C>T	c.(2395-2397)Cca>Tca	p.P799S	SPAG9_ENST00000357122.4_Missense_Mutation_p.P785S|SPAG9_ENST00000505279.1_Missense_Mutation_p.P789S|SPAG9_ENST00000510283.1_Missense_Mutation_p.P642S	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	799					activation of JUN kinase activity (GO:0007257)|muscle cell differentiation (GO:0042692)|negative regulation of protein homodimerization activity (GO:0090074)|positive regulation of cell migration (GO:0030335)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron differentiation (GO:0045666)|protein homooligomerization (GO:0051260)|retrograde transport, endosome to Golgi (GO:0042147)|spermatogenesis (GO:0007283)|striated muscle cell differentiation (GO:0051146)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			CTCTTACCTGGCACACTTGCA	0.483																																						uc002itc.2																			0				lung(4)|breast(1)	5						c.(2395-2397)CCA>TCA		sperm associated antigen 9 isoform 1							98.0	76.0	83.0					17																	49071128		2203	4300	6503	SO:0001583	missense	9043				positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm		g.chr17:49071128G>A	AB011088	CCDS11577.1, CCDS45740.1, CCDS58577.1, CCDS58578.1	17q21.33	2013-09-23			ENSG00000008294	ENSG00000008294			14524	protein-coding gene	gene with protein product	"""sperm surface protein"", ""JNK/SAPK-associated protein"", ""JNK interacting protein"", ""sperm specific protein"", ""c-Jun NH2-terminal kinase-associated leucine zipper protein"", ""Max-binding protein"", ""JNK-associated leucine-zipper protein"", ""HLC-4 protein"", ""lung cancer oncogene 4"", ""proliferation-inducing gene 6"", ""cancer/testis antigen 89"""	605430				9480848, 11106729	Standard	NM_003971		Approved	HSS, SYD1, KIAA0516, MGC14967, MGC74461, MGC117291, JLP, PHET, HLC4, PIG6, FLJ13450, FLJ14006, FLJ26141, FLJ34602, CT89	uc002itc.3	O60271	OTTHUMG00000162316	ENST00000262013.7:c.2395C>T	17.37:g.49071128G>A	ENSP00000262013:p.Pro799Ser					SPAG9_uc002itb.2_Missense_Mutation_p.P785S|SPAG9_uc002itd.2_Missense_Mutation_p.P789S|SPAG9_uc002itf.2_Missense_Mutation_p.P620S|SPAG9_uc002ita.2_Missense_Mutation_p.P642S|SPAG9_uc002ite.2_Missense_Mutation_p.P629S	p.P799S	NM_001130528	NP_001124000	O60271	JIP4_HUMAN	BRCA - Breast invasive adenocarcinoma(22;4.24e-07)		19	2604	-			799					A6H8U5|A8MSX0|B4DHH2|O60905|Q3KQU8|Q3MKM7|Q86WC7|Q86WC8|Q8IZX7|Q96II0|Q9H811	Missense_Mutation	SNP	ENST00000262013.7	37	c.2395C>T	CCDS45740.1	.	.	.	.	.	.	.	.	.	.	G	33	5.199626	0.94997	.	.	ENSG00000008294	ENST00000262013;ENST00000376407;ENST00000357804;ENST00000357791;ENST00000510283;ENST00000505279;ENST00000357122;ENST00000535445	T;T;T;T	0.32988	1.44;1.44;1.43;1.44	5.93	5.93	0.95920	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.54679	0.1873	M	0.65498	2.005	0.80722	D	1	D;D;P;P;P;B	0.64830	0.984;0.994;0.939;0.762;0.735;0.378	P;D;P;B;B;B	0.63877	0.833;0.919;0.721;0.411;0.284;0.359	T	0.45279	-0.9272	10	0.42905	T	0.14	.	20.3368	0.98748	0.0:0.0:1.0:0.0	.	785;799;789;799;785;642	O60271-5;O60271-3;O60271-2;O60271;O60271-4;E7ENU2	.;.;.;JIP4_HUMAN;.;.	S	799;556;546;336;642;789;785;397	ENSP00000262013:P799S;ENSP00000423165:P642S;ENSP00000426900:P789S;ENSP00000349636:P785S	ENSP00000262013:P799S	P	-	1	0	SPAG9	46426127	1.000000	0.71417	0.992000	0.48379	0.809000	0.45718	9.380000	0.97202	2.805000	0.96524	0.655000	0.94253	CCA		0.483	SPAG9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368543.2	NM_003971	
CCDC178	374864	broad.mit.edu	37	18	30825371	30825371	+	Silent	SNP	G	G	A	rs200500512		TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr18:30825371G>A	ENST00000383096.3	-	15	1613	c.1431C>T	c.(1429-1431)taC>taT	p.Y477Y	CCDC178_ENST00000583930.1_Silent_p.Y477Y|CCDC178_ENST00000579947.1_Silent_p.Y477Y|CCDC178_ENST00000406524.2_Silent_p.Y477Y|CCDC178_ENST00000300227.8_Silent_p.Y477Y|CCDC178_ENST00000403303.1_Silent_p.Y477Y|CCDC178_ENST00000402325.1_Silent_p.Y477Y|CCDC178_ENST00000579916.1_Intron			Q5BJE1	CC178_HUMAN	coiled-coil domain containing 178	477																	TTTCAGATTCGTATTTTGATT	0.259													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17021	0.0		0.0	False		,,,				2504	0.0					uc002kxn.2																			0				ovary(1)	1						c.(1429-1431)TAC>TAT		hypothetical protein LOC374864 isoform 1		G	,	2,4400	2.1+/-5.4	0,2,2199	75.0	69.0	71.0		1431,1431	-3.5	0.0	18		71	0,8594		0,0,4297	no	coding-synonymous,coding-synonymous	C18orf34	NM_001105528.1,NM_198995.2	,	0,2,6496	AA,AG,GG		0.0,0.0454,0.0154	,	477/868,477/830	30825371	2,12994	2201	4297	6498	SO:0001819	synonymous_variant	374864							g.chr18:30825371G>A	AK126038	CCDS11906.1, CCDS42424.1	18q12.1	2012-10-15	2012-10-15	2012-10-15	ENSG00000166960	ENSG00000166960			29588	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 34"""	C18orf34			Standard	NM_198995		Approved	FLJ44050	uc002kxn.2	Q5BJE1	OTTHUMG00000132279	ENST00000383096.3:c.1431C>T	18.37:g.30825371G>A						C18orf34_uc010dme.1_Translation_Start_Site|C18orf34_uc010xbr.1_Silent_p.Y477Y|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Silent_p.Y477Y|C18orf34_uc002kxp.2_Silent_p.Y477Y	p.Y477Y	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN			14	1573	-			477					A6NDC6|J3KS92|Q6ZP67|Q6ZU20	Silent	SNP	ENST00000383096.3	37	c.1431C>T	CCDS42424.1																																																																																				0.259	CCDC178-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255373.2	NM_198995	
CELF4	56853	broad.mit.edu	37	18	35145598	35145598	+	Missense_Mutation	SNP	T	T	A			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr18:35145598T>A	ENST00000591282.1	-	1	6	c.7A>T	c.(7-9)Ata>Tta	p.I3L	CELF4_ENST00000591287.1_Missense_Mutation_p.I3L|CELF4_ENST00000420428.2_Missense_Mutation_p.I3L|CELF4_ENST00000361795.5_Missense_Mutation_p.I3L|CELF4_ENST00000603232.1_Missense_Mutation_p.I3L|CELF4_ENST00000412753.1_Missense_Mutation_p.I3L|CELF4_ENST00000334919.5_Missense_Mutation_p.I3L|CELF4_ENST00000588597.1_Missense_Mutation_p.I3L|CELF4_ENST00000601019.1_Missense_Mutation_p.I3L			Q9BZC1	CELF4_HUMAN	CUGBP, Elav-like family member 4	3	Sufficient for RNA-binding and MSE- dependent splicing activity.				alternative mRNA splicing, via spliceosome (GO:0000380)|embryo development (GO:0009790)|germ cell development (GO:0007281)|mRNA splice site selection (GO:0006376)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of translation (GO:0017148)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	BRE binding (GO:0042835)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						GCCATCTTTATATACATAGAG	0.537																																						uc002lae.2																			0				ovary(2)	2						c.(7-9)ATA>TTA		bruno-like 4, RNA binding protein isoform 1							51.0	52.0	51.0					18																	35145598		2203	4300	6503	SO:0001583	missense	56853				embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding	g.chr18:35145598T>A	AF248651	CCDS32818.1, CCDS45857.1, CCDS45858.1	18q12	2013-02-12	2010-02-19	2010-02-19				"""RNA binding motif (RRM) containing"""	14015	protein-coding gene	gene with protein product		612679	"""Bruno (Drosophila) -like 4, RNA binding protein"", ""bruno-like 4, RNA binding protein (Drosophila)"""	BRUNOL4		10893231	Standard	NM_020180		Approved		uc002lae.2	Q9BZC1		ENST00000591282.1:c.7A>T	18.37:g.35145598T>A	ENSP00000464794:p.Ile3Leu					CELF4_uc010dnd.1_Missense_Mutation_p.I3L|CELF4_uc002lag.2_Missense_Mutation_p.I3L|CELF4_uc002laf.2_5'UTR|CELF4_uc002lai.2_5'UTR	p.I3L	NM_020180	NP_064565	Q9BZC1	CELF4_HUMAN			1	403	-			3			Sufficient for RNA-binding and MSE- dependent splicing activity.		Q59EN7|Q86XB9|Q8N2M6|Q9BQ96|Q9NR84|Q9NR85	Missense_Mutation	SNP	ENST00000591282.1	37	c.7A>T	CCDS32818.1	.	.	.	.	.	.	.	.	.	.	T	17.00	3.277786	0.59758	.	.	ENSG00000101489	ENST00000361795;ENST00000412753;ENST00000420428;ENST00000334919	T;T;T;T	0.73575	-0.69;-0.69;-0.69;-0.76	4.92	4.92	0.64577	.	0.391854	0.18960	N	0.126424	T	0.73969	0.3655	N	0.22421	0.69	0.31695	N	0.641458	P;P;P	0.38863	0.65;0.65;0.518	P;P;P	0.51079	0.658;0.658;0.456	T	0.79460	-0.1794	10	0.72032	D	0.01	-5.7261	15.2784	0.73760	0.0:0.0:0.0:1.0	.	3;3;3	Q9BZC1-3;Q9BZC1-5;Q9BZC1	.;.;CELF4_HUMAN	L	3	ENSP00000355089:I3L;ENSP00000406823:I3L;ENSP00000410584:I3L;ENSP00000335631:I3L	ENSP00000335631:I3L	I	-	1	0	CELF4	33399596	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.373000	0.44266	2.142000	0.66516	0.528000	0.53228	ATA		0.537	CELF4-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000440892.1	NM_020180	
SERPINB4	6318	broad.mit.edu	37	18	61306946	61306946	+	Silent	SNP	G	G	A			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr18:61306946G>A	ENST00000341074.5	-	6	649	c.534C>T	c.(532-534)aaC>aaT	p.N178N	SERPINB4_ENST00000356424.6_Silent_p.N178N	NM_002974.2	NP_002965.1	P48594	SPB4_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 4	178					negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						AATAGATTGCGTTCACAAGAA	0.318																																						uc002ljf.2																			0				ovary(2)|lung(1)	3						c.(532-534)AAC>AAT		serine (or cysteine) proteinase inhibitor, clade							95.0	95.0	95.0					18																	61306946		2202	4299	6501	SO:0001819	synonymous_variant	6318				immune response|regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity	g.chr18:61306946G>A	X89015	CCDS11986.1	18q21.33	2014-02-18	2005-08-18		ENSG00000206073	ENSG00000206073		"""Serine (or cysteine) peptidase inhibitors"""	10570	protein-coding gene	gene with protein product	"""squamous cell carcinoma antigen 2"""	600518	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 4"""	SCCA2		7724531, 14630915, 24172014	Standard	NM_175041		Approved	PI11, LEUPIN, SCCA-2, SCCA1		P48594	OTTHUMG00000060405	ENST00000341074.5:c.534C>T	18.37:g.61306946G>A						SERPINB4_uc002lje.2_Silent_p.N178N|SERPINB4_uc002ljg.2_Intron	p.N178N	NM_002974	NP_002965	P48594	SPB4_HUMAN			6	620	-			178					A8K847	Silent	SNP	ENST00000341074.5	37	c.534C>T	CCDS11986.1	.	.	.	.	.	.	.	.	.	.	G	0.022	-1.418253	0.01136	.	.	ENSG00000206073	ENST00000413673	.	.	.	4.27	-5.42	0.02640	.	.	.	.	.	T	0.64327	0.2588	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.64398	-0.6417	4	.	.	.	.	15.5031	0.75716	0.8871:0.0:0.1129:0.0	.	.	.	.	M	180	.	.	T	-	2	0	SERPINB4	59457926	0.328000	0.24687	0.310000	0.25168	0.001000	0.01503	-0.181000	0.09740	-1.653000	0.01500	-3.130000	0.00060	ACG		0.318	SERPINB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133794.2	NM_175041	
CYP2F1	1572	broad.mit.edu	37	19	41630793	41630793	+	Silent	SNP	C	C	T			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr19:41630793C>T	ENST00000331105.2	+	8	1206	c.1134C>T	c.(1132-1134)cgC>cgT	p.R378R		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	378					naphthalene metabolic process (GO:0018931)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|trichloroethylene metabolic process (GO:0018979)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						CGGCCTTTCGCGGCTTCCTGA	0.597																																						uc002opu.1																			0					0						c.(1132-1134)CGC>CGT		cytochrome P450, family 2, subfamily F,							35.0	27.0	30.0					19																	41630793		2203	4299	6502	SO:0001819	synonymous_variant	1572				naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr19:41630793C>T	J02906	CCDS12572.1	19q13.1-q13.2	2008-02-05	2003-01-14		ENSG00000197446	ENSG00000197446		"""Cytochrome P450s"""	2632	protein-coding gene	gene with protein product		124070	"""cytochrome P450, subfamily IIF, polypeptide 1"""	CYP2F			Standard	NM_000774		Approved		uc002opu.1	P24903	OTTHUMG00000167412	ENST00000331105.2:c.1134C>T	19.37:g.41630793C>T						CYP2F1_uc010xvw.1_Intron|CYP2F1_uc010xvv.1_3'UTR|CYP2F1_uc002opv.1_RNA	p.R378R	NM_000774	NP_000765	P24903	CP2F1_HUMAN			8	1190	+			378					A7KAU6|A7KAU7|A7KAU8|A7KAU9|A7KAV0|Q32MN5|Q8WWJ2	Silent	SNP	ENST00000331105.2	37	c.1134C>T	CCDS12572.1	.	.	.	.	.	.	.	.	.	.	c	4.522	0.096803	0.08681	.	.	ENSG00000197446	ENST00000439903	T	0.79749	-1.3	3.13	-1.22	0.09494	.	0.061077	0.64402	U	0.000007	T	0.80439	0.4623	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.76506	-0.2934	7	0.87932	D	0	.	5.8906	0.18911	0.5288:0.3043:0.1668:0.0	.	.	.	.	W	12	ENSP00000443424:R12W	ENSP00000443424:R12W	R	+	1	2	CYP2F1	46322633	0.000000	0.05858	0.753000	0.31225	0.443000	0.32047	-3.726000	0.00382	0.041000	0.15688	0.089000	0.15464	CGG		0.597	CYP2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394527.2		
ZNF813	126017	broad.mit.edu	37	19	53995185	53995185	+	Missense_Mutation	SNP	G	G	T			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr19:53995185G>T	ENST00000396403.4	+	4	1827	c.1699G>T	c.(1699-1701)Gca>Tca	p.A567S	ZNF813_ENST00000396421.4_Intron	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	567					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		AGCACACCTTGCACGTCACCA	0.378																																						uc002qbu.2																			0				large_intestine(1)	1						c.(1699-1701)GCA>TCA		zinc finger protein 813							46.0	48.0	48.0					19																	53995185		2197	4297	6494	SO:0001583	missense	126017				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53995185G>T	AK091460	CCDS46172.1	19q13.41	2013-01-08			ENSG00000198346	ENSG00000198346		"""Zinc fingers, C2H2-type"", ""-"""	33257	protein-coding gene	gene with protein product							Standard	NM_001004301		Approved	FLJ16542	uc002qbu.2	Q6ZN06	OTTHUMG00000158309	ENST00000396403.4:c.1699G>T	19.37:g.53995185G>T	ENSP00000379684:p.Ala567Ser					ZNF813_uc010eqq.1_Intron	p.A567S	NM_001004301	NP_001004301	Q6ZN06	ZN813_HUMAN		GBM - Glioblastoma multiforme(134;0.00619)	4	1827	+			567			C2H2-type 13.			Missense_Mutation	SNP	ENST00000396403.4	37	c.1699G>T	CCDS46172.1	.	.	.	.	.	.	.	.	.	.	g	4.045	0.005979	0.07866	.	.	ENSG00000198346	ENST00000396403	T	0.07444	3.19	1.28	-1.69	0.08186	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02807	0.0084	N	0.01576	-0.805	0.09310	N	0.999999	B	0.20368	0.044	B	0.24006	0.05	T	0.44329	-0.9335	9	0.39692	T	0.17	.	5.7863	0.18334	0.6587:0.0:0.3413:0.0	.	567	Q6ZN06	ZN813_HUMAN	S	567	ENSP00000379684:A567S	ENSP00000379684:A567S	A	+	1	0	ZNF813	58686997	0.000000	0.05858	0.003000	0.11579	0.008000	0.06430	-3.965000	0.00324	-0.421000	0.07416	0.187000	0.17357	GCA		0.378	ZNF813-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350638.1	NM_001004301	
NLRP5	126206	broad.mit.edu	37	19	56515184	56515184	+	Missense_Mutation	SNP	C	C	A			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr19:56515184C>A	ENST00000390649.3	+	2	165	c.165C>A	c.(163-165)gaC>gaA	p.D55E		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	55					cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TGGAAGGAGACAAATCGCTCA	0.423																																						uc002qmj.2																			0				ovary(3)|skin(2)|kidney(1)|central_nervous_system(1)	7						c.(163-165)GAC>GAA		NACHT, LRR and PYD containing protein 5							121.0	113.0	115.0					19																	56515184		1864	4106	5970	SO:0001583	missense	126206					mitochondrion|nucleolus	ATP binding	g.chr19:56515184C>A	AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"""Nucleotide-binding domain and leucine rich repeat containing"""	21269	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"""	609658	"""NACHT, leucine rich repeat and PYD containing 5"""	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.165C>A	19.37:g.56515184C>A	ENSP00000375063:p.Asp55Glu					NLRP5_uc002qmi.2_Missense_Mutation_p.D55E	p.D55E	NM_153447	NP_703148	P59047	NALP5_HUMAN		GBM - Glioblastoma multiforme(193;0.0326)	2	165	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	55					A8MTY4|Q86W29	Missense_Mutation	SNP	ENST00000390649.3	37	c.165C>A	CCDS12938.1	.	.	.	.	.	.	.	.	.	.	C	5.416	0.261907	0.10239	.	.	ENSG00000171487	ENST00000390649	T	0.71698	-0.59	3.09	0.816	0.18768	.	.	.	.	.	T	0.37919	0.1021	N	0.08118	0	0.09310	N	1	B	0.34061	0.436	B	0.27887	0.084	T	0.26292	-1.0107	9	0.07813	T	0.8	.	3.5384	0.07802	0.2474:0.6156:0.0:0.137	.	55	P59047	NALP5_HUMAN	E	55	ENSP00000375063:D55E	ENSP00000375063:D55E	D	+	3	2	NLRP5	61206996	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.214000	0.17541	0.307000	0.22880	0.508000	0.49915	GAC		0.423	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447	
STARD7-AS1	285033	broad.mit.edu	37	2	96906137	96906137	+	RNA	SNP	C	C	T			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr2:96906137C>T	ENST00000446816.1	+	0	564																											TAATTTCTTCCGAATTCAAAA	0.408																																						uc002svp.1																			0					0						c.(76-78)CGA>TGA		hypothetical protein LOC285033							72.0	72.0	72.0					2																	96906137		1872	4101	5973			285033							g.chr2:96906137C>T																													2.37:g.96906137C>T						LOC285033_uc002svn.2_RNA|LOC285033_uc002svo.2_Intron	p.R26*	NM_001037228	NP_001032305	Q3KRF4	Q3KRF4_HUMAN			1	161	+			26						Nonsense_Mutation	SNP	ENST00000446816.1	37	c.76C>T																																																																																					0.408	AC012307.3-001	KNOWN	basic|exp_conf	antisense	processed_transcript	OTTHUMT00000338796.1		
CNTNAP5	129684	broad.mit.edu	37	2	125530374	125530374	+	Splice_Site	SNP	A	A	T			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr2:125530374A>T	ENST00000431078.1	+	17	2894		c.e17-1			NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5						cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TTCCGGTTTCAGCTCCTTCAG	0.458																																						uc002tno.2																			0				ovary(10)	10						c.e17-2		contactin associated protein-like 5 precursor							142.0	129.0	133.0					2																	125530374		1928	4130	6058	SO:0001630	splice_region_variant	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125530374A>T	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.2531-1A>T	2.37:g.125530374A>T						CNTNAP5_uc010flu.2_Splice_Site_p.S845_splice	p.S844_splice	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	17	2895	+								Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Splice_Site	SNP	ENST00000431078.1	37	c.2531_splice	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	a	22.6	4.305284	0.81247	.	.	ENSG00000155052	ENST00000431078	.	.	.	5.49	5.49	0.81192	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7806	0.69764	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CNTNAP5	125246844	1.000000	0.71417	1.000000	0.80357	0.783000	0.44284	8.800000	0.91900	2.096000	0.63516	0.524000	0.50904	.		0.458	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3		Intron
MZT2B	80097	broad.mit.edu	37	2	130948160	130948160	+	Silent	SNP	G	G	A	rs376967942		TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr2:130948160G>A	ENST00000281871.6	+	3	793	c.438G>A	c.(436-438)ggG>ggA	p.G146G	MZT2B_ENST00000409255.1_Silent_p.G206G	NM_025029.3	NP_079305.2	Q6NZ67	MZT2B_HUMAN	mitotic spindle organizing protein 2B	146						centrosome (GO:0005813)|gamma-tubulin ring complex (GO:0008274)|spindle (GO:0005819)				lung(1)	1						TGCCCAAGGGGGGCGGGCCTG	0.647																																						uc002tqu.2																			0					0						c.(436-438)GGG>GGA		hypothetical protein LOC80097							35.0	41.0	39.0					2																	130948160		2192	4295	6487	SO:0001819	synonymous_variant	80097					centrosome|gamma-tubulin ring complex|spindle	protein binding	g.chr2:130948160G>A	BC066296	CCDS2157.1	2q21.1	2013-10-11	2010-07-22	2010-07-22	ENSG00000152082	ENSG00000152082			25886	protein-coding gene	gene with protein product	"""mitotic-spindle organizing protein associated with a ring of gamma-tubulin 2B"""	613450	"""family with sequence similarity 128, member B"""	FAM128B		20360068	Standard	NM_025029		Approved	FLJ14346, MOZART2B	uc002tqu.3	Q6NZ67	OTTHUMG00000131625	ENST00000281871.6:c.438G>A	2.37:g.130948160G>A							p.G146G	NM_025029	NP_079305	Q6NZ67	MZT2B_HUMAN			3	591	+	Colorectal(110;0.1)		146					Q96CG4	Silent	SNP	ENST00000281871.6	37	c.438G>A	CCDS2157.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	2.742|2.742	-0.261905|-0.261905	0.05791|0.05791	.|.	.|.	ENSG00000152082|ENSG00000152082	ENST00000425361|ENST00000455239	T|.	0.31510|.	1.49|.	3.59|3.59	0.564|0.564	0.17302|0.17302	.|.	0.572258|0.572258	0.17506|0.17506	N|N	0.171814|0.171814	T|T	0.58836|0.58836	0.2150|0.2150	.|.	.|.	.|.	0.52099|0.52099	D|D	0.999945|0.999945	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.54022|0.54022	-0.8355|-0.8355	7|6	0.56958|0.54805	D|T	0.05|0.06	-15.9954|-15.9954	6.1906|6.1906	0.20522|0.20522	0.1909:0.2824:0.5267:0.0|0.1909:0.2824:0.5267:0.0	.|.	.|.	.|.	.|.	E|R	110|87	ENSP00000398749:G110E|.	ENSP00000398749:G110E|ENSP00000404629:G87R	G|G	+|+	2|1	0|0	MZT2B|MZT2B	130664630|130664630	0.838000|0.838000	0.29461|0.29461	0.111000|0.111000	0.21465|0.21465	0.321000|0.321000	0.28281|0.28281	0.106000|0.106000	0.15354|0.15354	-0.256000|-0.256000	0.09473|0.09473	-1.644000|-1.644000	0.00765|0.00765	GGG|GGG		0.647	MZT2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254518.1	NM_025029	
PCK1	5105	broad.mit.edu	37	20	56139269	56139269	+	Missense_Mutation	SNP	G	G	A	rs574426927	byFrequency	TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr20:56139269G>A	ENST00000319441.4	+	7	1170	c.1006G>A	c.(1006-1008)Gct>Act	p.A336T	PCK1_ENST00000543666.1_Missense_Mutation_p.A19T|PCK1_ENST00000535860.1_Missense_Mutation_p.A204T	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	336					carbohydrate metabolic process (GO:0005975)|drug metabolic process (GO:0017144)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycerol biosynthetic process from pyruvate (GO:0046327)|internal protein amino acid acetylation (GO:0006475)|oxaloacetate metabolic process (GO:0006107)|response to activity (GO:0014823)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxylic acid binding (GO:0031406)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613)			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			TTTCGGTGTCGCTCCTGGGAC	0.493													G|||	2	0.000399361	0.0	0.0	5008	,	,		19626	0.001		0.0	False		,,,				2504	0.001					uc002xyn.3																			0				skin(1)	1						c.(1006-1008)GCT>ACT		cytosolic phosphoenolpyruvate carboxykinase 1							89.0	84.0	86.0					20																	56139269		2203	4300	6503	SO:0001583	missense	5105				gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity	g.chr20:56139269G>A		CCDS13460.1	20q13.31	2007-11-06			ENSG00000124253	ENSG00000124253	4.1.1.32		8724	protein-coding gene	gene with protein product		614168				1492743	Standard	NM_002591		Approved	PEPCK-C	uc002xyn.4	P35558	OTTHUMG00000032825	ENST00000319441.4:c.1006G>A	20.37:g.56139269G>A	ENSP00000319814:p.Ala336Thr					PCK1_uc010zzm.1_Missense_Mutation_p.A19T	p.A336T	NM_002591	NP_002582	P35558	PCKGC_HUMAN	BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)		7	1169	+	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		336					A8K437|B4DT64|Q8TCA3|Q9UJD2	Missense_Mutation	SNP	ENST00000319441.4	37	c.1006G>A	CCDS13460.1	.	.	.	.	.	.	.	.	.	.	G	33	5.202804	0.94997	.	.	ENSG00000124253	ENST00000540165;ENST00000319441;ENST00000543666;ENST00000535860	T;T;T	0.06142	3.34;3.34;3.34	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.45013	0.1321	H	0.98559	4.265	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.989	T	0.67193	-0.5732	10	0.87932	D	0	-15.9358	19.6793	0.95956	0.0:0.0:1.0:0.0	.	19;336	B4DT64;P35558	.;PCKGC_HUMAN	T	18;336;19;204	ENSP00000319814:A336T;ENSP00000445767:A19T;ENSP00000444342:A204T	ENSP00000319814:A336T	A	+	1	0	PCK1	55572675	1.000000	0.71417	0.951000	0.38953	0.798000	0.45092	9.282000	0.95840	2.713000	0.92767	0.655000	0.94253	GCT		0.493	PCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079851.2		
SLC17A9	63910	broad.mit.edu	37	20	61588307	61588307	+	Missense_Mutation	SNP	G	G	A	rs187226528	byFrequency	TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr20:61588307G>A	ENST00000370351.4	+	2	381	c.250G>A	c.(250-252)Ggg>Agg	p.G84R	SLC17A9_ENST00000370349.3_Missense_Mutation_p.G78R|SLC17A9_ENST00000488738.1_3'UTR	NM_022082.3	NP_071365	Q9BYT1	S17A9_HUMAN	solute carrier family 17 (vesicular nucleotide transporter), member 9	84					exocytosis (GO:0006887)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						CGGCCACCTCGGGGATCGGTA	0.662													G|||	7	0.00139776	0.0038	0.0029	5008	,	,		15879	0.0		0.0	False		,,,				2504	0.0					uc002yea.3																			0				ovary(1)|skin(1)	2						c.(250-252)GGG>AGG		vesicular nucleotide transporter SLC17A9		G	ARG/GLY	25,4061		0,25,2018	39.0	45.0	43.0		250	4.8	1.0	20		43	0,8356		0,0,4178	yes	missense	SLC17A9	NM_022082.3	125	0,25,6196	AA,AG,GG		0.0,0.6118,0.2009	possibly-damaging	84/437	61588307	25,12417	2043	4178	6221	SO:0001583	missense	63910				exocytosis|transmembrane transport	integral to membrane	transporter activity	g.chr20:61588307G>A	AK027065	CCDS42901.1	20q13.33	2013-07-18	2013-07-18	2009-01-22	ENSG00000101194	ENSG00000101194		"""Solute carriers"""	16192	protein-coding gene	gene with protein product		612107	"""chromosome 20 open reading frame 59"", ""solute carrier family 17, member 9"""	C20orf59		18375752	Standard	NM_022082		Approved	FLJ23412, VNUT	uc002yea.4	Q9BYT1	OTTHUMG00000032951	ENST00000370351.4:c.250G>A	20.37:g.61588307G>A	ENSP00000359376:p.Gly84Arg					SLC17A9_uc002ydz.3_Missense_Mutation_p.G78R|SLC17A9_uc011aap.1_Missense_Mutation_p.G104R	p.G84R	NM_022082	NP_071365	Q9BYT1	S17A9_HUMAN			2	434	+			84			Helical; (Potential).		B3KTF2|Q5W198|Q8TB07|Q8TBP4|Q8TEL5|Q9BYT0|Q9BYT2	Missense_Mutation	SNP	ENST00000370351.4	37	c.250G>A	CCDS42901.1	3	0.0013736263736263737	2	0.0040650406504065045	1	0.0027624309392265192	0	0.0	0	0.0	G	22.2	4.262724	0.80358	0.006118	0.0	ENSG00000101194	ENST00000370351;ENST00000370349;ENST00000411611	T;T;T	0.59772	0.24;0.24;0.24	4.82	4.82	0.62117	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.044146	0.85682	D	0.000000	T	0.47525	0.1450	L	0.43152	1.355	0.42869	D	0.994137	P;P;P	0.47484	0.841;0.896;0.873	P;P;P	0.51193	0.57;0.662;0.531	T	0.57596	-0.7784	10	0.72032	D	0.01	.	6.2744	0.20973	0.2379:0.0:0.7621:0.0	.	104;84;78	B4DPU8;Q9BYT1;Q9BYT1-2	.;S17A9_HUMAN;.	R	84;78;104	ENSP00000359376:G84R;ENSP00000359374:G78R;ENSP00000388215:G104R	ENSP00000359374:G78R	G	+	1	0	SLC17A9	61058752	1.000000	0.71417	0.999000	0.59377	0.953000	0.61014	6.556000	0.73932	2.222000	0.72286	0.655000	0.94253	GGG		0.662	SLC17A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080100.1	NM_022082	
ANKRD28	23243	broad.mit.edu	37	3	15712040	15712040	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr3:15712040C>T	ENST00000399451.2	-	28	3266	c.2899G>A	c.(2899-2901)Gct>Act	p.A967T	ANKRD28_ENST00000383777.1_Missense_Mutation_p.A1000T|ANKRD28_ENST00000497037.1_5'UTR	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN	ankyrin repeat domain 28	967						nucleus (GO:0005634)				breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						TTATTGGGAGCACAGGCCAAA	0.398																																						uc003caj.1																			0				breast(1)	1						c.(2899-2901)GCT>ACT		ankyrin repeat domain 28							83.0	80.0	81.0					3																	15712040		1940	4130	6070	SO:0001583	missense	23243					nucleoplasm	protein binding	g.chr3:15712040C>T	AY367056	CCDS46769.1, CCDS74908.1	3p25.1	2013-01-10			ENSG00000206560	ENSG00000206560		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	29024	protein-coding gene	gene with protein product	"""phosphatase interactor targeting K protein"", ""protein phosphatase 6 ankyrin repeat subunit A"", ""protein phosphatase 1, regulatory subunit 65"""	611122				9205841	Standard	NM_015199		Approved	KIAA0379, PITK, PP6-ARS-A, PPP1R65	uc003caj.1	O15084	OTTHUMG00000155379	ENST00000399451.2:c.2899G>A	3.37:g.15712040C>T	ENSP00000382379:p.Ala967Thr					ANKRD28_uc003cai.1_Missense_Mutation_p.A813T|ANKRD28_uc011avz.1_Missense_Mutation_p.A813T|ANKRD28_uc003cak.1_RNA|ANKRD28_uc011avy.1_Missense_Mutation_p.A47T	p.A967T	NM_015199	NP_056014	O15084	ANR28_HUMAN			28	3042	-			967					B4DES5|Q1WWL4|Q29RW6|Q3B857|Q6ULS0|Q6ZT57	Missense_Mutation	SNP	ENST00000399451.2	37	c.2899G>A	CCDS46769.1	.	.	.	.	.	.	.	.	.	.	C	35	5.491959	0.96339	.	.	ENSG00000206560	ENST00000399451;ENST00000383777;ENST00000412318	T;T;T	0.69040	-0.37;-0.37;-0.37	5.65	5.65	0.86999	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.80989	0.4730	M	0.64676	1.99	0.80722	D	1	D;P	0.63880	0.993;0.698	D;P	0.74674	0.984;0.654	T	0.81437	-0.0933	10	0.66056	D	0.02	.	19.7241	0.96154	0.0:1.0:0.0:0.0	.	47;967	B4DS25;O15084	.;ANR28_HUMAN	T	967;1000;967	ENSP00000382379:A967T;ENSP00000373287:A1000T;ENSP00000397341:A967T	ENSP00000373287:A1000T	A	-	1	0	ANKRD28	15687044	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.668000	0.90789	0.655000	0.94253	GCT		0.398	ANKRD28-003	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339758.1	NM_015199	
OXNAD1	92106	broad.mit.edu	37	3	16343240	16343240	+	Silent	SNP	A	A	G			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr3:16343240A>G	ENST00000285083.5	+	7	1005	c.540A>G	c.(538-540)ggA>ggG	p.G180G	OXNAD1_ENST00000605932.1_Silent_p.G180G|OXNAD1_ENST00000606098.1_Silent_p.G180G|OXNAD1_ENST00000544043.1_Silent_p.G198G|OXNAD1_ENST00000435829.2_Silent_p.G198G	NM_138381.3	NP_612390.1	Q96HP4	OXND1_HUMAN	oxidoreductase NAD-binding domain containing 1	180	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.					mitochondrion (GO:0005739)	oxidoreductase activity (GO:0016491)			endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|skin(2)	13						GAGGAGTCGGAATTAACCCTC	0.483																																						uc003caw.2																			0				skin(1)	1						c.(538-540)GGA>GGG		oxidoreductase NAD-binding domain containing 1							101.0	95.0	97.0					3																	16343240		2203	4300	6503	SO:0001819	synonymous_variant	92106						oxidoreductase activity	g.chr3:16343240A>G	AL832787	CCDS2630.1	3p25-p24	2010-03-19			ENSG00000154814	ENSG00000154814			25128	protein-coding gene	gene with protein product						12477932	Standard	NM_138381		Approved	MGC15763	uc003caw.3	Q96HP4	OTTHUMG00000129867	ENST00000285083.5:c.540A>G	3.37:g.16343240A>G						OXNAD1_uc010her.1_RNA|OXNAD1_uc003cax.2_Silent_p.G180G|OXNAD1_uc011awb.1_Silent_p.G198G	p.G180G	NM_138381	NP_612390	Q96HP4	OXND1_HUMAN			7	997	+			180			NAD (By similarity).|FAD-binding FR-type.		Q2HYC7|Q59FA4	Silent	SNP	ENST00000285083.5	37	c.540A>G	CCDS2630.1																																																																																				0.483	OXNAD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252109.1	NM_138381	
ZNF619	285267	broad.mit.edu	37	3	40529457	40529457	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr3:40529457G>A	ENST00000314686.5	+	6	1813	c.1408G>A	c.(1408-1410)Gga>Aga	p.G470R	ZNF619_ENST00000521353.1_Missense_Mutation_p.G526R|ZNF619_ENST00000447116.2_Missense_Mutation_p.G526R|ZNF619_ENST00000456778.1_Missense_Mutation_p.G442R|ZNF619_ENST00000429348.2_Missense_Mutation_p.G486R|ZNF619_ENST00000522736.1_Missense_Mutation_p.G477R|ZNF619_ENST00000520737.1_3'UTR|ZNF619_ENST00000432264.2_Missense_Mutation_p.G486R			Q8N2I2	ZN619_HUMAN	zinc finger protein 619	470					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		ACTCATCAATGGAACAGGGCT	0.537																																						uc011azb.1																			0				ovary(1)	1						c.(1576-1578)GGA>AGA		zinc finger protein 619 isoform 1							141.0	103.0	116.0					3																	40529457		2203	4300	6503	SO:0001583	missense	285267				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr3:40529457G>A	AK075245	CCDS46801.1, CCDS46802.1, CCDS46803.1	3p21.33	2013-01-08			ENSG00000177873	ENSG00000177873		"""Zinc fingers, C2H2-type"", ""-"""	26910	protein-coding gene	gene with protein product							Standard	NM_001145083		Approved	FLJ90764	uc011azb.2	Q8N2I2	OTTHUMG00000131391	ENST00000314686.5:c.1408G>A	3.37:g.40529457G>A	ENSP00000322529:p.Gly470Arg					ZNF619_uc010hhz.2_Missense_Mutation_p.G477R|ZNF619_uc003ckj.2_Missense_Mutation_p.G470R|ZNF619_uc011azc.1_Missense_Mutation_p.G486R|ZNF619_uc011azd.1_Missense_Mutation_p.G442R|ZNF619_uc011aza.1_Missense_Mutation_p.G428R	p.G526R	NM_001145082	NP_001138554	E9PCD9	E9PCD9_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)	6	1854	+			526					B4E271|C9JRN5|D4PHA2|E9PCD9	Missense_Mutation	SNP	ENST00000314686.5	37	c.1576G>A		.	.	.	.	.	.	.	.	.	.	G	10.67	1.416085	0.25552	.	.	ENSG00000177873	ENST00000314686;ENST00000447116;ENST00000429348;ENST00000456778;ENST00000442066;ENST00000522736;ENST00000521353;ENST00000432264	T;T;T;T;T;T;T	0.06687	3.28;3.32;3.51;3.27;3.3;3.32;3.51	2.3	0.268	0.15626	.	.	.	.	.	T	0.02888	0.0086	N	0.08118	0	0.09310	N	1	B;B;P;P;P;P	0.41450	0.438;0.438;0.704;0.75;0.704;0.704	B;B;B;B;B;B	0.32289	0.102;0.102;0.143;0.129;0.143;0.143	T	0.37478	-0.9704	9	0.87932	D	0	.	1.1013	0.01684	0.1486:0.2245:0.3987:0.2281	.	442;486;526;428;477;470	B4E271;C9JRN5;E9PCD9;B7Z9B3;Q17RW3;Q8N2I2	.;.;.;.;.;ZN619_HUMAN	R	470;526;486;442;107;477;526;486	ENSP00000322529:G470R;ENSP00000411132:G526R;ENSP00000398024:G486R;ENSP00000397232:G442R;ENSP00000428004:G477R;ENSP00000430705:G526R;ENSP00000388710:G486R	ENSP00000322529:G470R	G	+	1	0	ZNF619	40504461	0.227000	0.23707	0.000000	0.03702	0.050000	0.14768	2.810000	0.47979	-0.085000	0.12573	0.462000	0.41574	GGA		0.537	ZNF619-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000254180.2	NM_173656	
RBM15B	29890	broad.mit.edu	37	3	51430156	51430156	+	Silent	SNP	G	G	A			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr3:51430156G>A	ENST00000323686.4	+	1	1426	c.1326G>A	c.(1324-1326)ggG>ggA	p.G442G		NM_013286.4	NP_037418.3	Q8NDT2	RB15B_HUMAN	RNA binding motif protein 15B	442	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|large_intestine(5)|lung(3)	12				BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		ACCGCTTTGGGAGCATTCGGA	0.572																																						uc003dbd.2																			0					0						c.(1324-1326)GGG>GGA		RNA binding motif protein 15B							86.0	92.0	90.0					3																	51430156		2203	4300	6503	SO:0001819	synonymous_variant	29890				interspecies interaction between organisms|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr3:51430156G>A	AL831838	CCDS33764.1	3p21.1	2013-02-12			ENSG00000179837	ENSG00000259956		"""RNA binding motif (RRM) containing"""	24303	protein-coding gene	gene with protein product		612602				16129689	Standard	NM_013286		Approved	HUMAGCGB, OTT3	uc003dbd.3	Q8NDT2	OTTHUMG00000156896	ENST00000323686.4:c.1326G>A	3.37:g.51430156G>A							p.G442G	NM_013286	NP_037418	Q8NDT2	RB15B_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	1	1426	+			442			RRM 3.		A4QPG7|Q6QE19|Q9BV96	Silent	SNP	ENST00000323686.4	37	c.1326G>A	CCDS33764.1																																																																																				0.572	RBM15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346489.1	NM_013286	
BOD1L1	259282	broad.mit.edu	37	4	13603360	13603360	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr4:13603360C>T	ENST00000040738.5	-	10	5299	c.5164G>A	c.(5164-5166)Gaa>Aaa	p.E1722K		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	1722						nucleus (GO:0005634)	DNA binding (GO:0003677)										CCCTCTGTTTCTTTTTTGGGA	0.493																																						uc003gmz.1																			0				ovary(5)|breast(1)	6						c.(5164-5166)GAA>AAA		biorientation of chromosomes in cell division							159.0	154.0	156.0					4																	13603360		2203	4300	6503	SO:0001583	missense	259282						DNA binding	g.chr4:13603360C>T	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.5164G>A	4.37:g.13603360C>T	ENSP00000040738:p.Glu1722Lys					BOD1L_uc010idr.1_Missense_Mutation_p.E1059K	p.E1722K	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN			10	5281	-			1722					Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	ENST00000040738.5	37	c.5164G>A	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	C	23.9	4.473479	0.84640	.	.	ENSG00000038219	ENST00000040738	T	0.12569	2.67	4.8	4.8	0.61643	.	0.000000	0.56097	D	0.000030	T	0.27278	0.0669	L	0.36672	1.1	0.40426	D	0.979894	D	0.76494	0.999	D	0.78314	0.991	T	0.01725	-1.1287	10	0.32370	T	0.25	-11.2747	16.3729	0.83371	0.0:1.0:0.0:0.0	.	1722	Q8NFC6	BOD1L_HUMAN	K	1722	ENSP00000040738:E1722K	ENSP00000040738:E1722K	E	-	1	0	BOD1L	13212458	1.000000	0.71417	0.995000	0.50966	0.986000	0.74619	4.986000	0.63851	2.359000	0.80004	0.555000	0.69702	GAA		0.493	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894	
UGT8	7368	broad.mit.edu	37	4	115544445	115544445	+	Missense_Mutation	SNP	G	G	C			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr4:115544445G>C	ENST00000310836.6	+	2	931	c.409G>C	c.(409-411)Gtg>Ctg	p.V137L	UGT8_ENST00000394511.3_Missense_Mutation_p.V137L	NM_001128174.1	NP_001121646	Q16880	CGT_HUMAN	UDP glycosyltransferase 8	137					axon cargo transport (GO:0008088)|central nervous system development (GO:0007417)|cytoskeleton organization (GO:0007010)|galactosylceramide biosynthetic process (GO:0006682)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to paranode region of axon (GO:0002175)	integral component of membrane (GO:0016021)	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity (GO:0003851)|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity (GO:0008489)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000632)		CCTGCTGCTGGTGGACCCTAA	0.438																																						uc003ibs.2																			0				ovary(1)|skin(1)	2						c.(409-411)GTG>CTG		UDP-galactose-ceramide galactosyltransferase 8							169.0	166.0	167.0					4																	115544445		2203	4300	6503	SO:0001583	missense	7368				central nervous system development|peripheral nervous system development	integral to membrane	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity	g.chr4:115544445G>C	AK127970	CCDS3705.1	4q26	2013-02-21	2008-07-31	2005-07-20	ENSG00000174607	ENSG00000174607	2.4.1.45	"""UDP glucuronosyltransferases"""	12555	protein-coding gene	gene with protein product	"""2-hydroxyacylsphingosine 1-beta-galactosyltransferase"""	601291	"""UDP-galactose ceramide galactosyltransferase"""	CGT		8661025	Standard	NM_003360		Approved		uc003ibs.2	Q16880	OTTHUMG00000132915	ENST00000310836.6:c.409G>C	4.37:g.115544445G>C	ENSP00000311648:p.Val137Leu					UGT8_uc003ibt.2_Missense_Mutation_p.V137L|UGT8_uc011cge.1_RNA	p.V137L	NM_001128174	NP_001121646	Q16880	CGT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000632)	2	931	+		Ovarian(17;0.156)	137					B3KXU7|O00196	Missense_Mutation	SNP	ENST00000310836.6	37	c.409G>C	CCDS3705.1	.	.	.	.	.	.	.	.	.	.	G	17.68	3.450337	0.63290	.	.	ENSG00000174607	ENST00000310836;ENST00000507710;ENST00000394511	T;T;T	0.06608	3.28;3.28;3.28	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.07773	0.0195	N	0.25144	0.715	0.58432	D	0.999998	B	0.24963	0.115	B	0.33960	0.173	T	0.45220	-0.9276	10	0.26408	T	0.33	.	19.4042	0.94642	0.0:0.0:1.0:0.0	.	137	Q16880	CGT_HUMAN	L	137	ENSP00000311648:V137L;ENSP00000421446:V137L;ENSP00000378019:V137L	ENSP00000311648:V137L	V	+	1	0	UGT8	115763894	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.800000	0.85949	2.660000	0.90430	0.650000	0.86243	GTG		0.438	UGT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256426.2	NM_003360	
TENM3	55714	broad.mit.edu	37	4	183714528	183714528	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr4:183714528C>T	ENST00000511685.1	+	26	6826	c.6703C>T	c.(6703-6705)Cgt>Tgt	p.R2235C	TENM3_ENST00000406950.2_Missense_Mutation_p.R2235C			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	2235					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.R2235C(1)									CCTGGGAAGGCGTGTTTCTAG	0.453																																						uc003ivd.1																			1	Substitution - Missense(1)		endometrium(1)		0						c.(6703-6705)CGT>TGT		odz, odd Oz/ten-m homolog 3							78.0	79.0	79.0					4																	183714528		1895	4118	6013	SO:0001583	missense	55714				signal transduction	integral to membrane		g.chr4:183714528C>T	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.6703C>T	4.37:g.183714528C>T	ENSP00000424226:p.Arg2235Cys						p.R2235C	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)	25	6740	+		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)	2235			YD 22.|Extracellular (Potential).		Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	ENST00000511685.1	37	c.6703C>T	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	C	15.22	2.768920	0.49680	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	D;D	0.90444	-2.67;-2.67	4.46	3.61	0.41365	.	.	.	.	.	D	0.95974	0.8689	M	0.92555	3.32	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	D	0.96473	0.9350	9	0.66056	D	0.02	.	13.8251	0.63346	0.1543:0.8457:0.0:0.0	.	2235	Q9P273	TEN3_HUMAN	C	2235	ENSP00000424226:R2235C;ENSP00000385276:R2235C	ENSP00000385276:R2235C	R	+	1	0	ODZ3	183951522	1.000000	0.71417	0.631000	0.29282	0.918000	0.54935	3.854000	0.55949	1.082000	0.41137	0.563000	0.77884	CGT		0.453	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1		
MARCH6	10299	broad.mit.edu	37	5	10394249	10394249	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr5:10394249G>A	ENST00000274140.5	+	8	954	c.822G>A	c.(820-822)tgG>tgA	p.W274*	MARCH6_ENST00000449913.2_Nonsense_Mutation_p.W226*|MARCH6_ENST00000503788.1_Nonsense_Mutation_p.W169*	NM_005885.3	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	274					protein K48-linked ubiquitination (GO:0070936)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	enzyme binding (GO:0019899)|ligase activity (GO:0016874)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						AGCTTACATGGGAAAGAGTAA	0.303																																						uc003jet.1																			0				ovary(1)|breast(1)	2						c.(820-822)TGG>TGA		membrane-associated ring finger (C3HC4) 6							67.0	67.0	67.0					5																	10394249		2203	4300	6503	SO:0001587	stop_gained	10299				protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr5:10394249G>A	AB011169	CCDS34135.1, CCDS59487.1, CCDS59488.1	5p15.2	2013-01-09	2012-02-23		ENSG00000145495	ENSG00000145495		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	30550	protein-coding gene	gene with protein product		613297	"""membrane-associated ring finger (C3HC4) 6"""			14722266	Standard	NM_001270660		Approved	TEB4, MARCH-VI, RNF176	uc003jet.2	O60337	OTTHUMG00000162027	ENST00000274140.5:c.822G>A	5.37:g.10394249G>A	ENSP00000274140:p.Trp274*					MARCH6_uc011cmu.1_Nonsense_Mutation_p.W226*|MARCH6_uc003jeu.1_5'UTR|MARCH6_uc011cmv.1_Nonsense_Mutation_p.W169*	p.W274*	NM_005885	NP_005876	O60337	MARH6_HUMAN			8	1005	+			274			Cytoplasmic (Potential).		A5PKZ4|B4DKJ2|B4DT33|D3DTC8|O14670|Q86X77	Nonsense_Mutation	SNP	ENST00000274140.5	37	c.822G>A	CCDS34135.1	.	.	.	.	.	.	.	.	.	.	G	39	7.444700	0.98289	.	.	ENSG00000145495	ENST00000449913;ENST00000503788;ENST00000274140	.	.	.	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.1012	19.1444	0.93459	0.0:0.0:1.0:0.0	.	.	.	.	X	226;169;274	.	ENSP00000274140:W274X	W	+	3	0	MARCH6	10447249	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.409000	0.97331	2.523000	0.85059	0.585000	0.79938	TGG		0.303	MARCH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366919.2	NM_005885	
CDKL3	51265	broad.mit.edu	37	5	133634348	133634349	+	Frame_Shift_Ins	INS	-	-	A			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr5:133634348_133634349insA	ENST00000265334.4	-	13	1890_1891	c.1772_1773insT	c.(1771-1773)ttcfs	p.F591fs	CDKL3_ENST00000523054.1_3'UTR|CDKL3_ENST00000609383.1_Intron|CDKL3_ENST00000536186.1_Intron|CDKL3_ENST00000609654.1_Intron|CTD-2410N18.4_ENST00000518409.1_RNA|CDKL3_ENST00000435240.2_Intron	NM_001113575.1	NP_001107047.1	Q8IVW4	CDKL3_HUMAN	cyclin-dependent kinase-like 3	591					cellular protein modification process (GO:0006464)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(3)	11			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GACACTACCAGAAAAAAAACCT	0.356																																						uc003kzf.3																			0				breast(1)	1						c.(1771-1773)TTCfs		cyclin-dependent kinase-like 3 isoform 1																																				SO:0001589	frameshift_variant	51265					cytoplasm	ATP binding|cyclin-dependent protein kinase activity	g.chr5:133634348_133634349insA	AF130372	CCDS47264.1, CCDS47265.1, CCDS75303.1	5q31.1	2014-09-09			ENSG00000006837	ENSG00000006837	2.7.11.22	"""Cyclin-dependent kinases"""	15483	protein-coding gene	gene with protein product	"""serine-threonine protein kinase NKIAMRE"""	608459				10463609	Standard	NM_016508		Approved	NKIAMRE	uc003kzf.4	Q8IVW4	OTTHUMG00000186341	ENST00000265334.4:c.1773dupT	5.37:g.133634356_133634356dupA	ENSP00000265334:p.Phe591fs					CDKL3_uc011cxm.1_Intron|CDKL3_uc011cxn.1_Intron|CDKL3_uc010jdw.2_Intron|CDKL3_uc011cxo.1_Intron|CDKL3_uc011cxp.1_Intron|CDKL3_uc011cxq.1_3'UTR	p.F591fs	NM_001113575	NP_001107047	Q8IVW4	CDKL3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		13	1891_1892	-			591					D3DQA0|D3DQA1|Q9P114	Frame_Shift_Ins	INS	ENST00000265334.4	37	c.1772_1773insT	CCDS47264.1																																																																																				0.356	CDKL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377697.1	NM_001113575	
SLC26A2	1836	broad.mit.edu	37	5	149360771	149360771	+	Missense_Mutation	SNP	A	A	G			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr5:149360771A>G	ENST00000286298.4	+	3	1883	c.1615A>G	c.(1615-1617)Ata>Gta	p.I539V		NM_000112.3	NP_000103.2	P50443	S26A2_HUMAN	solute carrier family 26 (anion exchanger), member 2	539					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|ion transport (GO:0006811)|ossification (GO:0001503)|small molecule metabolic process (GO:0044281)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			TTGTTTTTCTATATTTTGTGT	0.423																																						uc003lrh.2																			0					0						c.(1615-1617)ATA>GTA		solute carrier family 26 member 2							115.0	123.0	120.0					5																	149360771		2202	4299	6501	SO:0001583	missense	1836					integral to plasma membrane|membrane fraction	secondary active sulfate transmembrane transporter activity	g.chr5:149360771A>G	U14528	CCDS4300.1	5q31-q34	2014-09-17	2013-07-18		ENSG00000155850	ENSG00000155850		"""Solute carriers"""	10994	protein-coding gene	gene with protein product		606718	"""solute carrier family 26 (sulfate transporter), member 2"""	DTD		7923357	Standard	NM_000112		Approved	DTDST	uc003lrh.3	P50443	OTTHUMG00000130054	ENST00000286298.4:c.1615A>G	5.37:g.149360771A>G	ENSP00000286298:p.Ile539Val						p.I539V	NM_000112	NP_000103	P50443	S26A2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		3	1883	+			539			Helical; (Potential).		A8K2U3|B2R6J1|Q6N051	Missense_Mutation	SNP	ENST00000286298.4	37	c.1615A>G	CCDS4300.1	.	.	.	.	.	.	.	.	.	.	A	11.53	1.666087	0.29604	.	.	ENSG00000155850	ENST00000286298	D	0.93604	-3.25	6.17	5.01	0.66863	.	0.081092	0.85682	D	0.000000	D	0.89336	0.6686	L	0.37561	1.115	0.18873	N	0.999984	B	0.02656	0.0	B	0.12156	0.007	T	0.79522	-0.1769	10	0.42905	T	0.14	.	13.0239	0.58804	0.7469:0.2531:0.0:0.0	.	539	P50443	S26A2_HUMAN	V	539	ENSP00000286298:I539V	ENSP00000286298:I539V	I	+	1	0	SLC26A2	149340964	0.998000	0.40836	1.000000	0.80357	0.996000	0.88848	3.215000	0.51169	1.141000	0.42275	0.533000	0.62120	ATA		0.423	SLC26A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252333.2	NM_000112	
VARS	7407	broad.mit.edu	37	6	31746760	31746760	+	Missense_Mutation	SNP	T	T	C			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr6:31746760T>C	ENST00000375663.3	-	29	4150	c.3710A>G	c.(3709-3711)gAg>gGg	p.E1237G	Y_RNA_ENST00000364685.1_RNA|VWA7_ENST00000467576.1_5'Flank|VWA7_ENST00000375688.4_5'Flank|VWA7_ENST00000447450.1_5'Flank|VARS_ENST00000482996.1_5'Flank|VWA7_ENST00000375686.3_5'Flank	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	1237					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	TTCATCTGCCTCCTGGACTTC	0.637																																						uc003nxe.2																			0				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(3709-3711)GAG>GGG		valyl-tRNA synthetase	L-Valine(DB00161)						50.0	55.0	53.0					6																	31746760		1495	2689	4184	SO:0001583	missense	7407				translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity	g.chr6:31746760T>C	BC012808	CCDS34412.1	6p21.3	2011-07-01		2005-07-05	ENSG00000204394	ENSG00000204394	6.1.1.9	"""Aminoacyl tRNA synthetases / Class I"""	12651	protein-coding gene	gene with protein product	"""valine tRNA ligase 1, cytoplasmic"""	192150	"""valyl-tRNA synthetase 2"""	VARS2		15779907	Standard	XM_005249362		Approved		uc003nxe.3	P26640	OTTHUMG00000031286	ENST00000375663.3:c.3710A>G	6.37:g.31746760T>C	ENSP00000364815:p.Glu1237Gly					C6orf27_uc011dog.1_5'Flank|C6orf27_uc003nxd.2_5'Flank|C6orf27_uc011doh.1_5'Flank|VARS_uc003nxf.1_Missense_Mutation_p.E174G	p.E1237G	NM_006295	NP_006286	P26640	SYVC_HUMAN			29	4133	-			1237					B0V1N1|B4DZ61|Q5JQ90|Q96E77|Q9UQM2	Missense_Mutation	SNP	ENST00000375663.3	37	c.3710A>G	CCDS34412.1	.	.	.	.	.	.	.	.	.	.	T	15.81	2.943628	0.53079	.	.	ENSG00000204394	ENST00000375663	T	0.05649	3.41	4.96	4.96	0.65561	.	0.116678	0.56097	D	0.000031	T	0.04452	0.0122	M	0.69358	2.11	0.80722	D	1	P	0.37688	0.605	B	0.34093	0.175	T	0.10613	-1.0622	10	0.66056	D	0.02	-20.4195	12.678	0.56906	0.0:0.0:0.0:1.0	.	1237	P26640	SYVC_HUMAN	G	1237	ENSP00000364815:E1237G	ENSP00000364815:E1237G	E	-	2	0	VARS	31854739	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	3.937000	0.56575	2.096000	0.63516	0.374000	0.22700	GAG		0.637	VARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076619.2	NM_006295	
SLC22A7	10864	broad.mit.edu	37	6	43269393	43269393	+	Missense_Mutation	SNP	C	C	T	rs371403676		TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr6:43269393C>T	ENST00000372585.5	+	7	1119	c.1024C>T	c.(1024-1026)Cgg>Tgg	p.R342W	SLC22A7_ENST00000487175.1_3'UTR|SLC22A7_ENST00000372574.3_Missense_Mutation_p.R340W|SLC22A7_ENST00000372589.3_Missense_Mutation_p.R340W	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	342					organic anion transport (GO:0015711)|response to stilbenoid (GO:0035634)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)			NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)		Acetylsalicylic acid(DB00945)|Allopurinol(DB00437)|Aminohippurate(DB00345)|Bumetanide(DB00887)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Cimetidine(DB00501)|Clarithromycin(DB01211)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Docetaxel(DB01248)|Enalapril(DB00584)|Erythromycin(DB00199)|Fluorouracil(DB00544)|Ganciclovir(DB01004)|Glyburide(DB01016)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Methotrexate(DB00563)|Minocycline(DB01017)|Oxtriphylline(DB01303)|Oxytetracycline(DB00595)|Pravastatin(DB00175)|Probenecid(DB01032)|Rifampicin(DB01045)|Salicylic acid(DB00936)|Testosterone(DB00624)|Tetracycline(DB00759)|Theophylline(DB00277)|Valproic Acid(DB00313)|Zalcitabine(DB00943)|Zidovudine(DB00495)	CCGCACACCACGGCTCCGACA	0.617																																						uc003out.2																			0					0						c.(1024-1026)CGG>TGG		solute carrier family 22 member 7 isoform b		C	TRP/ARG,TRP/ARG	0,4406		0,0,2203	82.0	62.0	69.0		1018,1024	-1.3	0.0	6		69	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	SLC22A7	NM_006672.3,NM_153320.2	101,101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	340/547,342/549	43269393	1,13005	2203	4300	6503	SO:0001583	missense	10864					basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity	g.chr6:43269393C>T	AF097518	CCDS4892.1, CCDS4893.2	6p21.1	2013-05-22			ENSG00000137204	ENSG00000137204		"""Solute carriers"""	10971	protein-coding gene	gene with protein product		604995				9650585, 10773670	Standard	XM_006714970		Approved	NLT, OAT2	uc003out.3	Q9Y694	OTTHUMG00000014726	ENST00000372585.5:c.1024C>T	6.37:g.43269393C>T	ENSP00000361666:p.Arg342Trp					SLC22A7_uc010jyl.1_Missense_Mutation_p.R343W|SLC22A7_uc003ous.2_Missense_Mutation_p.R340W	p.R342W	NM_153320	NP_696961	Q9Y694	S22A7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)		7	1123	+			342					B2CZX6|Q5T046|Q5T048|Q5T050|Q9H2W5	Missense_Mutation	SNP	ENST00000372585.5	37	c.1024C>T	CCDS4893.2	.	.	.	.	.	.	.	.	.	.	C	14.74	2.626500	0.46840	0.0	1.16E-4	ENSG00000137204	ENST00000372589;ENST00000372585;ENST00000372574;ENST00000436107	T;T;T;T	0.74737	0.33;0.33;0.33;-0.87	5.56	-1.29	0.09288	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.405610	0.27323	N	0.019900	T	0.67411	0.2890	M	0.77486	2.375	0.09310	N	0.999998	D;P;D	0.59357	0.958;0.949;0.985	P;P;P	0.51453	0.67;0.54;0.655	T	0.68443	-0.5407	10	0.66056	D	0.02	.	11.2768	0.49172	0.7019:0.2293:0.0:0.0688	.	342;340;340	Q9Y694;Q9Y694-2;Q9Y694-3	S22A7_HUMAN;.;.	W	340;342;340;35	ENSP00000361670:R340W;ENSP00000361666:R342W;ENSP00000361655:R340W;ENSP00000393836:R35W	ENSP00000361655:R340W	R	+	1	2	SLC22A7	43377371	0.001000	0.12720	0.013000	0.15412	0.463000	0.32649	-0.556000	0.05992	-0.283000	0.09115	-0.521000	0.04368	CGG		0.617	SLC22A7-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040588.1		
GFRAL	389400	broad.mit.edu	37	6	55264168	55264168	+	Splice_Site	SNP	A	A	T			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr6:55264168A>T	ENST00000340465.2	+	8	1136	c.1050A>T	c.(1048-1050)ggA>ggT	p.G350G		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	350					negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|stress-activated protein kinase signaling cascade (GO:0031098)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			TTTTTCTAGGAGAAGTAATCT	0.313																																						uc003pcm.1																			0				ovary(1)|breast(1)	2						c.(1048-1050)GGA>GGT		GDNF family receptor alpha like precursor							63.0	64.0	64.0					6																	55264168		2203	4300	6503	SO:0001630	splice_region_variant	389400					integral to membrane	receptor activity	g.chr6:55264168A>T	AY358198	CCDS4957.1	6p12.1	2007-06-22			ENSG00000187871	ENSG00000187871			32789	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 144"""	C6orf144		16086688	Standard	NM_207410		Approved	GRAL, UNQ9356, bA360D14.1	uc003pcm.1	Q6UXV0	OTTHUMG00000014900	ENST00000340465.2:c.1049-1A>T	6.37:g.55264168A>T							p.G350G	NM_207410	NP_997293	Q6UXV0	GFRAL_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		8	1136	+	Lung NSC(77;0.0875)|Renal(3;0.122)		350			Extracellular (Potential).		Q5VTF6	Silent	SNP	ENST00000340465.2	37	c.1050A>T	CCDS4957.1																																																																																				0.313	GFRAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040995.2	NM_207410	Silent
IMPG1	3617	broad.mit.edu	37	6	76731930	76731930	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr6:76731930G>A	ENST00000369950.3	-	6	758	c.569C>T	c.(568-570)gCc>gTc	p.A190V	IMPG1_ENST00000369963.3_3'UTR	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2			interphotoreceptor matrix proteoglycan 1											breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				TGAGACGTTGGCAACATCTGT	0.378																																					Pancreas(37;839 1141 2599 26037)	uc003pik.1																			0				ovary(2)|skin(1)	3						c.(568-570)GCC>GTC		interphotoreceptor matrix proteoglycan 1							117.0	106.0	110.0					6																	76731930		2203	4300	6503	SO:0001583	missense	3617				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity	g.chr6:76731930G>A	AF017776	CCDS4985.1, CCDS75483.1	6q14.2-q15	2008-02-05	2004-05-25		ENSG00000112706	ENSG00000112706			6055	protein-coding gene	gene with protein product		602870	"""sialoprotein associated with cones and rods"""	SPACR			Standard	NM_001282368		Approved	IPM150, GP147	uc003pik.1	Q17R60	OTTHUMG00000015063	ENST00000369950.3:c.569C>T	6.37:g.76731930G>A	ENSP00000358966:p.Ala190Val						p.A190V	NM_001563	NP_001554	Q17R60	IMPG1_HUMAN			6	699	-		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)	190						Missense_Mutation	SNP	ENST00000369950.3	37	c.569C>T	CCDS4985.1	.	.	.	.	.	.	.	.	.	.	G	1.196	-0.633856	0.03584	.	.	ENSG00000112706	ENST00000369950	T	0.20738	2.05	5.2	2.41	0.29592	.	1.505630	0.03859	N	0.273741	T	0.04770	0.0129	L	0.36672	1.1	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.31223	-0.9951	10	0.10377	T	0.69	.	5.7126	0.17943	0.164:0.0:0.6788:0.1572	.	190	Q17R60	IMPG1_HUMAN	V	190	ENSP00000358966:A190V	ENSP00000358966:A190V	A	-	2	0	IMPG1	76788650	0.153000	0.22777	0.068000	0.19968	0.026000	0.11368	1.410000	0.34691	0.558000	0.29135	0.650000	0.86243	GCC		0.378	IMPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041288.1	NM_001563	
SLC22A3	6581	broad.mit.edu	37	6	160828117	160828117	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr6:160828117G>A	ENST00000275300.2	+	3	730	c.578G>A	c.(577-579)gGc>gAc	p.G193D	SLC22A3_ENST00000392145.1_Missense_Mutation_p.G193D	NM_021977.3	NP_068812.1	O75751	S22A3_HUMAN	solute carrier family 22 (organic cation transporter), member 3	193					dopamine transport (GO:0015872)|drug transmembrane transport (GO:0006855)|histamine uptake (GO:0051615)|organic cation transport (GO:0015695)|quaternary ammonium group transport (GO:0015697)|regulation of appetite (GO:0032098)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dopamine transmembrane transporter activity (GO:0005329)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|toxin transporter activity (GO:0019534)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)	Adefovir Dipivoxil(DB00718)|Amphetamine(DB00182)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Colchicine(DB01394)|Desipramine(DB01151)|Dopamine(DB00988)|Estradiol(DB00783)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imipramine(DB00458)|Irinotecan(DB00762)|Lamivudine(DB00709)|Melphalan(DB01042)|Metformin(DB00331)|Methamphetamine(DB01577)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Phenoxybenzamine(DB00925)|Prazosin(DB00457)|Procainamide(DB01035)|Progesterone(DB00396)|Testosterone(DB00624)|Vincristine(DB00541)	CTTGGTGTTGGCGTCACTGGG	0.473																																						uc003qti.2																			0				skin(2)|ovary(1)|central_nervous_system(1)	4						c.(577-579)GGC>GAC		solute carrier family 22 member 3							261.0	224.0	237.0					6																	160828117		2203	4300	6503	SO:0001583	missense	6581					integral to plasma membrane|membrane fraction	protein binding|quaternary ammonium group transmembrane transporter activity	g.chr6:160828117G>A	AF078749	CCDS5277.1	6q25.3	2013-07-18	2013-07-18		ENSG00000146477	ENSG00000146477		"""Solute carriers"""	10967	protein-coding gene	gene with protein product		604842	"""solute carrier family 22 (extraneuronal monoamine transporter), member 3"""			9632645, 9933568	Standard	NM_021977		Approved	OCT3, EMT	uc003qti.4	O75751	OTTHUMG00000015953	ENST00000275300.2:c.578G>A	6.37:g.160828117G>A	ENSP00000275300:p.Gly193Asp					SLC22A3_uc011efx.1_RNA	p.G193D	NM_021977	NP_068812	O75751	S22A3_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)	3	605	+		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)	193			Helical; (Potential).		Q5SYN6|Q9UP02	Missense_Mutation	SNP	ENST00000275300.2	37	c.578G>A	CCDS5277.1	.	.	.	.	.	.	.	.	.	.	G	17.13	3.311122	0.60414	.	.	ENSG00000146477	ENST00000275300;ENST00000392145	T;T	0.60040	0.22;0.22	5.88	5.88	0.94601	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.72382	0.3453	M	0.81802	2.56	0.42547	D	0.993095	D	0.63046	0.992	D	0.65684	0.937	T	0.71540	-0.4562	10	0.44086	T	0.13	.	18.4012	0.90516	0.0:0.0:1.0:0.0	.	193	O75751	S22A3_HUMAN	D	193	ENSP00000275300:G193D;ENSP00000375989:G193D	ENSP00000275300:G193D	G	+	2	0	SLC22A3	160748107	1.000000	0.71417	0.106000	0.21319	0.242000	0.25591	3.894000	0.56250	2.790000	0.95986	0.591000	0.81541	GGC		0.473	SLC22A3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042953.1	NM_021977	
EGFR	1956	broad.mit.edu	37	7	55268881	55268881	+	Splice_Site	SNP	G	G	A			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr7:55268881G>A	ENST00000275493.2	+	25	3124	c.2947G>A	c.(2947-2949)Ggg>Agg	p.G983R	EGFR_ENST00000442591.1_Intron|EGFR_ENST00000455089.1_Splice_Site_p.G938R|EGFR_ENST00000454757.2_Splice_Site_p.G930R	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	983					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	TCTGCACCAGGGGGATGAAAG	0.512		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	A|O|Mis	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	glioma|NSCLC		0				lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571						c.(2947-2949)GGG>AGG		epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						109.0	105.0	106.0					7																	55268881		2203	4300	6503	SO:0001630	splice_region_variant	1956	Lung_Cancer_Familial_Clustering_of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55268881G>A		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.2947-1G>A	7.37:g.55268881G>A		TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc010kzg.1_Missense_Mutation_p.G938R|EGFR_uc011kco.1_Missense_Mutation_p.G930R	p.G983R	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		25	3193	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		983			Cytoplasmic (Potential).		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.2947G>A	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.170963	0.78452	.	.	ENSG00000146648	ENST00000455089;ENST00000395504;ENST00000275493;ENST00000454757	T;T;T	0.61742	0.08;0.08;0.08	5.5	4.62	0.57501	Protein kinase-like domain (1);	0.097954	0.64402	D	0.000001	T	0.61627	0.2362	M	0.85462	2.755	0.80722	D	1	P;P	0.52577	0.954;0.809	B;B	0.41036	0.346;0.276	T	0.69335	-0.5172	9	.	.	.	.	13.3734	0.60725	0.0768:0.0:0.9232:0.0	.	938;983	Q504U8;P00533	.;EGFR_HUMAN	R	938;853;983;930	ENSP00000415559:G938R;ENSP00000275493:G983R;ENSP00000395243:G930R	.	G	+	1	0	EGFR	55236375	1.000000	0.71417	0.997000	0.53966	0.889000	0.51656	7.822000	0.86651	1.464000	0.47987	0.650000	0.86243	GGG		0.512	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228	Missense_Mutation
PCLO	27445	broad.mit.edu	37	7	82595087	82595087	+	Splice_Site	SNP	T	T	C			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr7:82595087T>C	ENST00000333891.9	-	4	4354	c.4017A>G	c.(4015-4017)acA>acG	p.T1339T	PCLO_ENST00000423517.2_Splice_Site_p.T1339T	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTTAACTTACTGTTTTTTCTT	0.338																																						uc003uhx.2																			0				ovary(7)	7						c.(4015-4017)ACA>ACG		piccolo isoform 1							185.0	161.0	169.0					7																	82595087		1870	4098	5968	SO:0001630	splice_region_variant	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82595087T>C	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.4017+1A>G	7.37:g.82595087T>C						PCLO_uc003uhv.2_Silent_p.T1339T	p.T1339T	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			4	4306	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment						Silent	SNP	ENST00000333891.9	37	c.4017A>G	CCDS47630.1																																																																																				0.338	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510	Silent
AKR1B10	57016	broad.mit.edu	37	7	134222353	134222353	+	Silent	SNP	C	C	G			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr7:134222353C>G	ENST00000359579.4	+	7	1001	c.681C>G	c.(679-681)tcC>tcG	p.S227S		NM_020299.4	NP_064695.3	O60218	AK1BA_HUMAN	aldo-keto reductase family 1, member B10 (aldose reductase)	227					cellular aldehyde metabolic process (GO:0006081)|daunorubicin metabolic process (GO:0044597)|digestion (GO:0007586)|doxorubicin metabolic process (GO:0044598)|farnesol catabolic process (GO:0016488)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|steroid metabolic process (GO:0008202)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	aldo-keto reductase (NADP) activity (GO:0004033)|geranylgeranyl reductase activity (GO:0045550)|indanol dehydrogenase activity (GO:0047718)|retinal dehydrogenase activity (GO:0001758)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5)	20						AAGACCCTTCCCTGCTGGAGG	0.463																																						uc003vrr.2																			0				skin(5)	5						c.(679-681)TCC>TCG		aldo-keto reductase family 1, member B10							105.0	112.0	110.0					7																	134222353		2203	4300	6503	SO:0001819	synonymous_variant	57016				cellular aldehyde metabolic process|digestion|steroid metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|protein binding	g.chr7:134222353C>G	AF052577	CCDS5832.1	7q33	2010-04-08			ENSG00000198074	ENSG00000198074		"""Aldo-keto reductases"""	382	protein-coding gene	gene with protein product	"""aldose reductase-like 1"", ""aldo-keto reductase family 1, member B11 (aldose reductase-like)"", ""aldose reductase-like peptide"", ""aldose reductase-related protein"", ""small intestine reductase"""	604707		AKR1B11		9765596, 9565553	Standard	NM_020299		Approved	AKR1B12, ARL-1, HIS, ARL1, HSI, ALDRLn	uc003vrr.3	O60218	OTTHUMG00000155356	ENST00000359579.4:c.681C>G	7.37:g.134222353C>G							p.S227S	NM_020299	NP_064695	O60218	AK1BA_HUMAN			7	1001	+			227					A4D1P1|O75890|Q6FHF3|Q8IWZ1	Silent	SNP	ENST00000359579.4	37	c.681C>G	CCDS5832.1																																																																																				0.463	AKR1B10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339615.1	NM_020299	
EPHA1	2041	broad.mit.edu	37	7	143097029	143097029	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr7:143097029C>T	ENST00000275815.3	-	4	636	c.550G>A	c.(550-552)Gct>Act	p.A184T		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	184	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				activation of Rho GTPase activity (GO:0032862)|angiogenesis (GO:0001525)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of cell migration (GO:0030336)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|regulation of Rac GTPase activity (GO:0032314)|substrate adhesion-dependent cell spreading (GO:0034446)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				TTGTGGAAAGCGAGGTAGAGG	0.617																																						uc003wcz.2																			0				ovary(3)|lung(1)|breast(1)	5						c.(550-552)GCT>ACT		ephrin receptor EphA1 precursor							31.0	32.0	31.0					7																	143097029		2203	4298	6501	SO:0001583	missense	2041					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:143097029C>T	M18391	CCDS5884.1	7q32-q36	2013-02-11	2004-10-28		ENSG00000146904	ENSG00000146904	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3385	protein-coding gene	gene with protein product		179610	"""EphA1"""	EPHT, EPHT1		9267020	Standard	NM_005232		Approved	EPH	uc003wcz.3	P21709	OTTHUMG00000155894	ENST00000275815.3:c.550G>A	7.37:g.143097029C>T	ENSP00000275815:p.Ala184Thr						p.A184T	NM_005232	NP_005223	P21709	EPHA1_HUMAN			4	637	-	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)	184			Extracellular (Potential).		A1L3V3|B5A966|B5A967|Q15405	Missense_Mutation	SNP	ENST00000275815.3	37	c.550G>A	CCDS5884.1	.	.	.	.	.	.	.	.	.	.	C	35	5.578904	0.96565	.	.	ENSG00000146904	ENST00000275815	T	0.10960	2.82	4.79	4.79	0.61399	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.56097	D	0.000029	T	0.42471	0.1204	M	0.89785	3.06	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.54296	-0.8315	10	0.87932	D	0	.	18.0282	0.89275	0.0:1.0:0.0:0.0	.	184	P21709	EPHA1_HUMAN	T	184	ENSP00000275815:A184T	ENSP00000275815:A184T	A	-	1	0	EPHA1	142807151	1.000000	0.71417	0.951000	0.38953	0.990000	0.78478	7.625000	0.83145	2.469000	0.83416	0.655000	0.94253	GCT		0.617	EPHA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342154.1		
NCAPG2	54892	broad.mit.edu	37	7	158447341	158447341	+	Missense_Mutation	SNP	C	C	A			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr7:158447341C>A	ENST00000409423.1	-	23	2864	c.2692G>T	c.(2692-2694)Gac>Tac	p.D898Y	NCAPG2_ENST00000275830.10_Missense_Mutation_p.D690Y|NCAPG2_ENST00000541468.1_Missense_Mutation_p.D399Y|NCAPG2_ENST00000409339.3_Missense_Mutation_p.D898Y|NCAPG2_ENST00000449727.2_Missense_Mutation_p.D898Y|NCAPG2_ENST00000356309.3_Missense_Mutation_p.D898Y	NM_001281932.1	NP_001268861.1	Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	898					chromosome condensation (GO:0030261)|inner cell mass cell proliferation (GO:0001833)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	methylated histone binding (GO:0035064)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		AACTGATGGTCACCAAGGCCT	0.428																																						uc003wnv.1																			0				ovary(1)|breast(1)|kidney(1)	3						c.(2692-2694)GAC>TAC		leucine zipper protein 5							170.0	164.0	166.0					7																	158447341		1943	4152	6095	SO:0001583	missense	54892				cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding	g.chr7:158447341C>A	BC043404	CCDS43686.1, CCDS64816.1	7q36.3	2006-09-04	2006-09-04	2006-09-04	ENSG00000146918	ENSG00000146918			21904	protein-coding gene	gene with protein product		608532	"""leucine zipper protein 5"""	LUZP5		14532007	Standard	NM_001281933		Approved	FLJ20311, MTB, CAP-G2, hCAP-G2	uc003wnv.1	Q86XI2	OTTHUMG00000151438	ENST00000409423.1:c.2692G>T	7.37:g.158447341C>A	ENSP00000386569:p.Asp898Tyr					NCAPG2_uc010lqu.1_Missense_Mutation_p.D690Y|NCAPG2_uc003wnw.1_RNA|NCAPG2_uc003wnx.1_Missense_Mutation_p.D898Y|NCAPG2_uc011kwe.1_Missense_Mutation_p.D898Y|NCAPG2_uc011kwc.1_Missense_Mutation_p.D399Y|NCAPG2_uc011kwd.1_Missense_Mutation_p.D341Y	p.D898Y	NM_017760	NP_060230	Q86XI2	CNDG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)	22	2837	-	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	898					A4D228|Q7Z3J9|Q8WUG8|Q9BRX6|Q9H8S2|Q9H9K6	Missense_Mutation	SNP	ENST00000409423.1	37	c.2692G>T	CCDS43686.1	.	.	.	.	.	.	.	.	.	.	C	9.735	1.163409	0.21538	.	.	ENSG00000146918	ENST00000541468;ENST00000356309;ENST00000409423;ENST00000275830;ENST00000409339;ENST00000545393;ENST00000449727	T;T;T;T;T;T	0.38887	1.11;1.14;1.14;1.16;1.13;1.13	5.79	3.03	0.35002	.	0.228496	0.50627	D	0.000102	T	0.57227	0.2039	M	0.61703	1.905	0.09310	N	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.79108	0.992;0.985;0.915;0.982	T	0.47509	-0.9112	10	0.72032	D	0.01	-13.9023	9.6568	0.39930	0.0:0.7078:0.0:0.2922	.	898;341;690;898	Q86XI2-2;B4DHE5;E7EUH9;Q86XI2	.;.;.;CNDG2_HUMAN	Y	399;898;898;690;898;341;898	ENSP00000442337:D399Y;ENSP00000348657:D898Y;ENSP00000386569:D898Y;ENSP00000275830:D690Y;ENSP00000387007:D898Y;ENSP00000388326:D898Y	ENSP00000275830:D690Y	D	-	1	0	NCAPG2	158140102	0.351000	0.24887	0.005000	0.12908	0.007000	0.05969	1.778000	0.38614	0.805000	0.34159	-0.258000	0.10820	GAC		0.428	NCAPG2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327111.1	NM_017760	
NKAIN3	286183	broad.mit.edu	37	8	63659690	63659691	+	Splice_Site	INS	-	-	A			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr8:63659690_63659691insA	ENST00000523211.1	+	4	603		c.e4+2		NKAIN3_ENST00000519049.1_Splice_Site|NKAIN3_ENST00000328472.5_Splice_Site	NM_173688.2	NP_775959.1	Q8N8D7	NKAI3_HUMAN	Na+/K+ transporting ATPase interacting 3							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				kidney(3)|large_intestine(2)|lung(8)	13	Breast(64;0.127)	Lung NSC(129;0.187)				CTACTCTCTGTAAGTGTCACTT	0.441																																						uc010lyq.1																			0					0						c.e4+2		Na+/K+ transporting ATPase interacting 3																																				SO:0001630	splice_region_variant	286183					integral to membrane|plasma membrane		g.chr8:63659690_63659691insA	AK096949	CCDS55239.1	8q12.3	2014-08-12	2007-10-04	2007-10-04	ENSG00000185942	ENSG00000185942		"""Na+/K+ transporting ATPase interacting"""	26829	protein-coding gene	gene with protein product		612872	"""family with sequence similarity 77, member D"""	FAM77D		17606467	Standard	NM_173688		Approved	FLJ39630	uc010lyq.1	Q8N8D7	OTTHUMG00000164361	ENST00000523211.1:c.471+2->A	8.37:g.63659692_63659692dupA							p.S157_splice	NM_173688	NP_775959	Q8N8D7	NKAI3_HUMAN			4	603	+	Breast(64;0.127)	Lung NSC(129;0.187)							Splice_Site	INS	ENST00000523211.1	37	c.471_splice	CCDS55239.1																																																																																				0.441	NKAIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378447.2	NM_173688	Intron
FTHL17	53940	broad.mit.edu	37	X	31089936	31089936	+	Silent	SNP	G	G	A			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chrX:31089936G>A	ENST00000359202.3	-	1	234	c.135C>T	c.(133-135)gaC>gaT	p.D45D		NM_031894.2	NP_114100.1	Q9BXU8	FHL17_HUMAN	ferritin, heavy polypeptide-like 17	45	Ferritin-like diiron. {ECO:0000255|PROSITE-ProRule:PRU00085}.				cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)		ferric iron binding (GO:0008199)			endometrium(2)|large_intestine(2)|liver(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	23						GGGCCACGTCGTCCCGGTTGA	0.582																																						uc004dcl.1																			0					0						c.(133-135)GAC>GAT		ferritin, heavy polypeptide-like 17							92.0	79.0	84.0					X																	31089936		2202	4300	6502	SO:0001819	synonymous_variant	53940				cellular iron ion homeostasis|iron ion transport		ferric iron binding|oxidoreductase activity	g.chrX:31089936G>A	AF285592	CCDS14227.1	Xp21.2	2010-07-06			ENSG00000132446	ENSG00000132446			3987	protein-coding gene	gene with protein product	"""cancer/testis antigen 38"""	300308				11279525	Standard	NM_031894		Approved	CT38	uc004dcl.1	Q9BXU8	OTTHUMG00000021332	ENST00000359202.3:c.135C>T	X.37:g.31089936G>A							p.D45D	NM_031894	NP_114100	Q9BXU8	FHL17_HUMAN			1	238	-			45			Ferritin-like diiron.		Q6NT24|Q6NTE2	Silent	SNP	ENST00000359202.3	37	c.135C>T	CCDS14227.1																																																																																				0.582	FTHL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056178.1	NM_031894	
