#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
CFAP74	85452	broad.mit.edu	37	1	1918455	1918455	+	IGR	SNP	G	G	A			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr1:1918455G>A	ENST00000434971.2	-	0	339							Q69YW0	CA222_HUMAN												breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)	11	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CGCCTCTGCCGACAGGCGCGC	0.632																																						uc001aim.1																			0				pancreas(1)	1						c.(316-318)CGG>TGG		hypothetical protein LOC85452							50.0	61.0	57.0					1																	1918455		2028	4192	6220	SO:0001628	intergenic_variant	85452							g.chr1:1918455G>A																													1.37:g.1918455G>A						KIAA1751_uc009vkz.1_Missense_Mutation_p.R106W|KIAA1751_uc001ain.1_Missense_Mutation_p.R106W	p.R106W	NM_001080484	NP_001073953	Q9C0B2	K1751_HUMAN		Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)	5	472	-	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)	106						Missense_Mutation	SNP	ENST00000434971.2	37	c.316C>T		.	.	.	.	.	.	.	.	.	.	G	11.22	1.575329	0.28092	.	.	ENSG00000142609	ENST00000270720	.	.	.	3.43	2.5	0.30297	.	0.544063	0.16337	N	0.218889	T	0.54743	0.1877	L	0.60455	1.87	0.24389	N	0.994752	D;D	0.89917	1.0;1.0	D;D	0.72338	0.977;0.958	T	0.38090	-0.9677	9	0.62326	D	0.03	-6.455	7.2566	0.26179	0.1349:0.0:0.8651:0.0	.	106;106	Q9C0B2-2;Q9C0B2	.;K1751_HUMAN	W	106	.	ENSP00000270720:R106W	R	-	1	2	C1orf222	1908315	0.986000	0.35501	0.116000	0.21606	0.040000	0.13550	2.557000	0.45871	0.721000	0.32231	0.462000	0.41574	CGG		0.632	C1orf222-201	KNOWN	basic	protein_coding	protein_coding			
EIF4G3	8672	broad.mit.edu	37	1	21268743	21268743	+	Missense_Mutation	SNP	G	G	C			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr1:21268743G>C	ENST00000264211.8	-	8	930	c.736C>G	c.(736-738)Caa>Gaa	p.Q246E	EIF4G3_ENST00000374937.3_Missense_Mutation_p.Q252E|EIF4G3_ENST00000544689.1_5'Flank|EIF4G3_ENST00000602326.1_Missense_Mutation_p.Q252E|EIF4G3_ENST00000374927.4_Missense_Mutation_p.Q246E|EIF4G3_ENST00000374933.3_5'Flank|EIF4G3_ENST00000356916.3_Missense_Mutation_p.Q257E|EIF4G3_ENST00000374935.3_Intron|EIF4G3_ENST00000400422.1_Missense_Mutation_p.Q246E|EIF4G3_ENST00000536266.1_5'UTR	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	246					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of meiosis I (GO:0060903)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|regulation of translational initiation (GO:0006446)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		TGGCCTTCTTGTTCTTTCTTC	0.448																																						uc001bec.2																			0				skin(1)	1						c.(736-738)CAA>GAA		eukaryotic translation initiation factor 4							127.0	132.0	131.0					1																	21268743		2203	4300	6503	SO:0001583	missense	8672				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity	g.chr1:21268743G>C	AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.736C>G	1.37:g.21268743G>C	ENSP00000264211:p.Gln246Glu					EIF4G3_uc010odi.1_5'UTR|EIF4G3_uc010odj.1_Missense_Mutation_p.Q245E|EIF4G3_uc009vpz.2_Intron|EIF4G3_uc001bed.2_Missense_Mutation_p.Q246E|EIF4G3_uc001bef.2_Missense_Mutation_p.Q245E|EIF4G3_uc001bee.2_Missense_Mutation_p.Q252E|EIF4G3_uc001beg.2_Missense_Mutation_p.Q245E|EIF4G3_uc010odk.1_Missense_Mutation_p.Q246E|EIF4G3_uc001beh.2_Missense_Mutation_p.Q257E	p.Q246E	NM_003760	NP_003751	O43432	IF4G3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)	9	992	-		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)	246					B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Missense_Mutation	SNP	ENST00000264211.8	37	c.736C>G	CCDS214.1	.	.	.	.	.	.	.	.	.	.	G	12.09	1.833219	0.32421	.	.	ENSG00000075151	ENST00000264211;ENST00000400415;ENST00000400422;ENST00000374937;ENST00000356916;ENST00000374927;ENST00000537059	T;T;T;T	0.20463	2.07;2.07;2.07;2.07	5.66	5.66	0.87406	.	0.345327	0.30901	N	0.008653	T	0.12860	0.0312	N	0.19112	0.55	0.38033	D	0.935238	B;B;B;B;B	0.34015	0.204;0.13;0.205;0.009;0.435	B;B;B;B;B	0.29716	0.073;0.016;0.106;0.01;0.054	T	0.04216	-1.0968	10	0.02654	T	1	-1.5884	18.3055	0.90179	0.0:0.0:1.0:0.0	.	246;441;372;252;246	B4DXR2;Q59GJ0;B1AN89;B9EGQ7;O43432	.;.;.;.;IF4G3_HUMAN	E	246;442;246;252;372;246;257	ENSP00000264211:Q246E;ENSP00000383274:Q246E;ENSP00000364073:Q252E;ENSP00000364062:Q246E	ENSP00000264211:Q246E	Q	-	1	0	EIF4G3	21141330	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.631000	0.61304	2.832000	0.97577	0.655000	0.94253	CAA		0.448	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000007467.3	NM_003760	
RPL5	6125	broad.mit.edu	37	1	93298955	93298955	+	Frame_Shift_Del	DEL	A	A	-			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr1:93298955delA	ENST00000370321.3	+	2	103	c.13delA	c.(13-15)aaafs	p.K5fs		NM_000969.3	NP_000960.2	P46777	RL5_HUMAN	ribosomal protein L5	5					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	5S rRNA binding (GO:0008097)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)		GGGGTTTGTTAAAGTTGTTAA	0.299																																						uc001doz.2																			0					0						c.(13-15)AAAfs		ribosomal protein L5							82.0	91.0	88.0					1																	93298955		2203	4299	6502	SO:0001589	frameshift_variant	6125				endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	5S rRNA binding|protein binding|structural constituent of ribosome	g.chr1:93298955delA	U14966	CCDS741.1	1p22.1	2014-06-13			ENSG00000122406	ENSG00000122406		"""L ribosomal proteins"""	10360	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 135"""	603634				7937132, 7772601	Standard	NM_000969		Approved	L5, PPP1R135	uc001doz.3	P46777	OTTHUMG00000010899	ENST00000370321.3:c.13delA	1.37:g.93298955delA	ENSP00000359345:p.Lys5fs					FAM69A_uc001dpc.2_Intron|RPL5_uc001dpa.2_RNA|RPL5_uc001dpb.2_5'UTR|RPL5_uc001dpd.2_5'Flank	p.K5fs	NM_000969	NP_000960	P46777	RL5_HUMAN		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)	2	91	+		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)	5					Q32LZ3|Q53HH6|Q9H3F4	Frame_Shift_Del	DEL	ENST00000370321.3	37	c.13delA	CCDS741.1																																																																																				0.299	RPL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030058.2	NM_000969	
OVGP1	5016	broad.mit.edu	37	1	111957411	111957411	+	Missense_Mutation	SNP	C	C	T	rs150120731	byFrequency	TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr1:111957411C>T	ENST00000369732.3	-	11	1767	c.1712G>A	c.(1711-1713)cGt>cAt	p.R571H		NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	571					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)|female pregnancy (GO:0007565)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|single fertilization (GO:0007338)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|egg coat (GO:0035805)|perivitelline space (GO:0098595)	chitinase activity (GO:0004568)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		CACCTTTTCACGGGCCACAGC	0.527													C|||	2	0.000399361	0.0	0.0014	5008	,	,		19331	0.0		0.001	False		,,,				2504	0.0					uc001eba.2																			0				ovary(4)|large_intestine(1)	5						c.(1711-1713)CGT>CAT		oviductal glycoprotein 1 precursor		C	HIS/ARG	0,4406		0,0,2203	105.0	112.0	110.0		1712	-4.8	0.0	1	dbSNP_134	110	7,8593	5.7+/-21.5	0,7,4293	yes	missense	OVGP1	NM_002557.3	29	0,7,6496	TT,TC,CC		0.0814,0.0,0.0538	benign	571/679	111957411	7,12999	2203	4300	6503	SO:0001583	missense	5016				chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity	g.chr1:111957411C>T	U09550	CCDS834.1	1p13.2	2008-07-31	2008-07-31		ENSG00000085465	ENSG00000085465		"""Mucins"""	8524	protein-coding gene	gene with protein product	"""oviductin"""	603578	"""mucin 9"""	MUC9		7819450, 9341614	Standard	NM_002557		Approved	CHIT5	uc001eba.3	Q12889	OTTHUMG00000011746	ENST00000369732.3:c.1712G>A	1.37:g.111957411C>T	ENSP00000358747:p.Arg571His					OVGP1_uc001eaz.2_Missense_Mutation_p.R533H|OVGP1_uc010owb.1_Missense_Mutation_p.R219H	p.R571H	NM_002557	NP_002548	Q12889	OVGP1_HUMAN		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)	11	1768	-		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)	571					A0AV19|B9EGE1|Q15841	Missense_Mutation	SNP	ENST00000369732.3	37	c.1712G>A	CCDS834.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	9.790	1.177629	0.21787	0.0	8.14E-4	ENSG00000085465	ENST00000369732;ENST00000369728;ENST00000434331	T	0.04275	3.66	4.08	-4.84	0.03151	.	8.718220	0.00357	N	0.000029	T	0.00580	0.0019	N	0.14661	0.345	0.19575	N	0.999964	P;B	0.46277	0.875;0.001	B;B	0.25759	0.063;0.001	T	0.45381	-0.9265	10	0.59425	D	0.04	0.035	0.2829	0.00247	0.3045:0.1398:0.2832:0.2726	.	571;635	Q12889;Q59HH5	OVGP1_HUMAN;.	H	571;635;379	ENSP00000358747:R571H	ENSP00000358743:R635H	R	-	2	0	OVGP1	111758934	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.400000	0.07241	-1.061000	0.03185	-1.696000	0.00724	CGT		0.527	OVGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032461.1	NM_002557	
SH2D1B	117157	broad.mit.edu	37	1	162368789	162368789	+	Missense_Mutation	SNP	T	T	C			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr1:162368789T>C	ENST00000367929.2	-	3	396	c.287A>G	c.(286-288)cAc>cGc	p.H96R	SH2D1B_ENST00000359567.3_Intron	NM_053282.4	NP_444512.2	O14796	SH21B_HUMAN	SH2 domain containing 1B	96	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				leukocyte activation involved in immune response (GO:0002366)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of innate immune response (GO:0045089)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated immunity (GO:0002717)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of natural killer cell activation (GO:0032814)	intracellular (GO:0005622)	protein binding, bridging (GO:0030674)			kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			CTTTAAAAGGTGAACCACCAT	0.423																																						uc001gbz.1																			0				pancreas(1)	1						c.(286-288)CAC>CGC		SH2 domain containing 1B							90.0	85.0	87.0					1																	162368789		2203	4300	6503	SO:0001583	missense	117157							g.chr1:162368789T>C	AF484964	CCDS30928.1	1q23.3	2013-02-14			ENSG00000198574	ENSG00000198574		"""SH2 domain containing"""	30416	protein-coding gene	gene with protein product		608510				9000139, 11689425	Standard	NM_053282		Approved	EAT2	uc001gbz.1	O14796	OTTHUMG00000031377	ENST00000367929.2:c.287A>G	1.37:g.162368789T>C	ENSP00000356906:p.His96Arg					SH2D1B_uc001gca.1_Intron	p.H96R	NM_053282	NP_444512	O14796	SH21B_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.126)		3	409	-	all_hematologic(112;0.115)		96			SH2.		B2RBN6|Q5T0L1|Q8NI18|Q969K9	Missense_Mutation	SNP	ENST00000367929.2	37	c.287A>G	CCDS30928.1	.	.	.	.	.	.	.	.	.	.	T	0.025	-1.378248	0.01204	.	.	ENSG00000198574	ENST00000367929	T	0.39229	1.09	4.77	-0.56	0.11789	SH2 motif (2);	0.677608	0.13270	N	0.400615	T	0.04497	0.0123	N	0.10664	0.02	0.27321	N	0.957044	B	0.11235	0.004	B	0.08055	0.003	T	0.36065	-0.9763	9	0.05833	T	0.94	-46.2956	4.3884	0.11328	0.0:0.1863:0.3295:0.4842	.	96	O14796	SH21B_HUMAN	R	96	ENSP00000356906:H96R	ENSP00000356906:H96R	H	-	2	0	SH2D1B	160635413	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	0.068000	0.14531	-0.013000	0.14199	-1.212000	0.01626	CAC		0.423	SH2D1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076794.1	NM_053282	
RYR2	6262	broad.mit.edu	37	1	237947200	237947200	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr1:237947200C>T	ENST00000366574.2	+	90	12505	c.12188C>T	c.(12187-12189)aCg>aTg	p.T4063M	RYR2_ENST00000542537.1_Missense_Mutation_p.T4047M|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Missense_Mutation_p.T4069M	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4063					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.T4061M(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CAGTCAGAAACGGAATTTCTT	0.483																																						uc001hyl.1																			1	Substitution - Missense(1)		large_intestine(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(12187-12189)ACG>ATG		cardiac muscle ryanodine receptor							38.0	37.0	38.0					1																	237947200		1982	4154	6136	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237947200C>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.12188C>T	1.37:g.237947200C>T	ENSP00000355533:p.Thr4063Met					RYR2_uc010pya.1_Missense_Mutation_p.T478M	p.T4063M	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		90	12308	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	4063					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.12188C>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	8.578	0.881609	0.17467	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.82255	-1.59;-1.59;-1.59	5.85	5.85	0.93711	EF-hand-like domain (1);	0.000000	0.64402	D	0.000004	T	0.70193	0.3196	N	0.00841	-1.15	0.80722	D	1	P;D	0.69078	0.58;0.997	B;P	0.55923	0.182;0.787	T	0.78086	-0.2341	10	0.38643	T	0.18	.	13.3656	0.60682	0.0:0.9283:0.0:0.0717	.	1037;4063	B4DGV4;Q92736	.;RYR2_HUMAN	M	4063;4069;4047;1037	ENSP00000355533:T4063M;ENSP00000353174:T4069M;ENSP00000443798:T4047M	ENSP00000353174:T4069M	T	+	2	0	RYR2	236013823	0.986000	0.35501	0.496000	0.27539	0.107000	0.19398	2.677000	0.46892	2.767000	0.95098	0.655000	0.94253	ACG		0.483	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	
OR2T3	343173	broad.mit.edu	37	1	248637275	248637275	+	Nonsense_Mutation	SNP	C	C	A			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr1:248637275C>A	ENST00000359594.2	+	1	649	c.624C>A	c.(622-624)tgC>tgA	p.C208*		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	208						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ACCTGTGCTGCATCCTCATGC	0.532																																						uc001iel.1																			0				skin(1)	1						c.(622-624)TGC>TGA		olfactory receptor, family 2, subfamily T,							214.0	170.0	185.0					1																	248637275		2138	4229	6367	SO:0001587	stop_gained	343173				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248637275C>A		CCDS31117.1	1q44	2012-08-09			ENSG00000196539	ENSG00000196539		"""GPCR / Class A : Olfactory receptors"""	14727	protein-coding gene	gene with protein product							Standard	NM_001005495		Approved		uc001iel.1	Q8NH03	OTTHUMG00000040452	ENST00000359594.2:c.624C>A	1.37:g.248637275C>A	ENSP00000352604:p.Cys208*						p.C208*	NM_001005495	NP_001005495	Q8NH03	OR2T3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	624	+	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)		208			Helical; Name=5; (Potential).		B2RNJ1	Nonsense_Mutation	SNP	ENST00000359594.2	37	c.624C>A	CCDS31117.1	.	.	.	.	.	.	.	.	.	.	c	15.31	2.797042	0.50208	.	.	ENSG00000196539	ENST00000359594	.	.	.	2.37	-4.38	0.03622	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.612	0.17410	0.0:0.6102:0.1728:0.217	.	.	.	.	X	208	.	ENSP00000352604:C208X	C	+	3	2	OR2T3	246703898	0.000000	0.05858	0.021000	0.16686	0.373000	0.29922	-1.749000	0.01824	-0.547000	0.06207	0.186000	0.17326	TGC		0.532	OR2T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097348.1	NM_001005495	
MRC1	4360	broad.mit.edu	37	10	17949554	17949554	+	Silent	SNP	G	G	A			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr10:17949554G>A	ENST00000331429.2	+	28	4021	c.3918G>A	c.(3916-3918)acG>acA	p.T1306T																	breast(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GACCAGGGACGTGGCTGTGGA	0.383																																						uc001ipk.2																			0					0						c.(3916-3918)ACG>ACA		mannose receptor C type 1 precursor							35.0	37.0	36.0					10																	17949554		2176	4257	6433	SO:0001819	synonymous_variant	4360				receptor-mediated endocytosis	endosome membrane|integral to plasma membrane	mannose binding|receptor activity	g.chr10:17949554G>A																												ENST00000331429.2:c.3918G>A	10.37:g.17949554G>A							p.T1306T	NM_002438	NP_002429	P22897	MRC1_HUMAN			28	4021	+			1306			Extracellular (Potential).|C-type lectin 8.			Silent	SNP	ENST00000331429.2	37	c.3918G>A																																																																																					0.383	MRC1L1-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047054.1		
CTNNA3	29119	broad.mit.edu	37	10	69407205	69407205	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr10:69407205C>T	ENST00000433211.2	-	2	241	c.67G>A	c.(67-69)Gtg>Atg	p.V23M	CTNNA3_ENST00000545309.1_Missense_Mutation_p.V23M|CTNNA3_ENST00000373744.4_Missense_Mutation_p.V23M	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						AGCTTCTCCACGGTGAATGTT	0.393																																						uc009xpn.1																			0				skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1)	8						c.(67-69)GTG>ATG		catenin, alpha 3							139.0	133.0	135.0					10																	69407205		2203	4300	6503	SO:0001583	missense	29119				cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity	g.chr10:69407205C>T	AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230			2511	protein-coding gene	gene with protein product		607667				12596047, 11590244	Standard	XM_005269717		Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.67G>A	10.37:g.69407205C>T	ENSP00000389714:p.Val23Met					CTNNA3_uc001jmw.2_Missense_Mutation_p.V23M|CTNNA3_uc001jmx.3_Missense_Mutation_p.V23M|CTNNA3_uc009xpo.1_Translation_Start_Site|CTNNA3_uc001jna.2_Missense_Mutation_p.V35M	p.V23M	NM_001127384	NP_001120856	Q9UI47	CTNA3_HUMAN			2	190	-			23						Missense_Mutation	SNP	ENST00000433211.2	37	c.67G>A	CCDS7269.1	.	.	.	.	.	.	.	.	.	.	C	18.38	3.612371	0.66672	.	.	ENSG00000183230	ENST00000433211;ENST00000373744;ENST00000545309;ENST00000330298;ENST00000540598	T;T;T;T	0.50548	0.74;0.74;0.74;0.74	5.71	4.81	0.61882	.	0.098484	0.38663	N	0.001608	T	0.64204	0.2577	L	0.61036	1.89	0.39744	D	0.971785	D;D;D	0.89917	0.973;1.0;0.999	P;D;D	0.85130	0.824;0.997;0.993	T	0.68765	-0.5322	10	0.87932	D	0	-9.6552	11.4919	0.50385	0.0:0.9165:0.0:0.0835	.	23;23;23	F2Z2R0;Q9UI47-2;Q9UI47	.;.;CTNA3_HUMAN	M	23	ENSP00000389714:V23M;ENSP00000362849:V23M;ENSP00000441444:V23M;ENSP00000330570:V23M	ENSP00000330570:V23M	V	-	1	0	CTNNA3	69077211	1.000000	0.71417	0.986000	0.45419	0.796000	0.44982	2.895000	0.48648	1.410000	0.46936	0.655000	0.94253	GTG		0.393	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048282.2	NM_013266	
Unknown	0	broad.mit.edu	37	10	135491113	135491113	+	IGR	SNP	G	G	A	rs372931654		TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr10:135491113G>A								AL845259.1 (17934 upstream) : None (None downstream)																							GGTCGCCTTCGCCCACACCGG	0.776																																						uc010qvi.1																			0					0						c.(724-726)GCC>ACC		double homeobox, 4-like							13.0	15.0	14.0					10																	135491113		1133	2184	3317	SO:0001628	intergenic_variant	653544					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:135491113G>A																													10.37:g.135491113G>A							p.A242T	NM_001127389	NP_001120861	F5GZ66	F5GZ66_HUMAN			1	835	+			242						Missense_Mutation	SNP		37	c.724G>A																																																																																				0	0.776								
TTC17	55761	broad.mit.edu	37	11	43411222	43411222	+	Missense_Mutation	SNP	A	A	C			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr11:43411222A>C	ENST00000039989.4	+	3	284	c.270A>C	c.(268-270)aaA>aaC	p.K90N	RP11-484D2.4_ENST00000394183.2_RNA|TTC17_ENST00000299240.6_Missense_Mutation_p.K90N	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	90					actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						TTGCTCAAAAAATTCACATAG	0.393																																						uc001mxi.2																			0				ovary(5)	5						c.(268-270)AAA>AAC		tetratricopeptide repeat domain 17							90.0	87.0	88.0					11																	43411222		2203	4300	6503	SO:0001583	missense	55761						binding	g.chr11:43411222A>C	AK001540	CCDS31466.1	11p11.2	2013-01-10			ENSG00000052841	ENSG00000052841		"""Tetratricopeptide (TTC) repeat domain containing"""	25596	protein-coding gene	gene with protein product						12477932	Standard	NM_018259		Approved	FLJ10890	uc001mxi.3	Q96AE7	OTTHUMG00000166398	ENST00000039989.4:c.270A>C	11.37:g.43411222A>C	ENSP00000039989:p.Lys90Asn					TTC17_uc001mxh.2_Missense_Mutation_p.K90N|TTC17_uc010rfj.1_Missense_Mutation_p.K33N	p.K90N	NM_018259	NP_060729	Q96AE7	TTC17_HUMAN			3	284	+			90					G3XAB3|Q8NEC0	Missense_Mutation	SNP	ENST00000039989.4	37	c.270A>C	CCDS31466.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.025348	0.75390	.	.	ENSG00000052841	ENST00000299240;ENST00000039989	T;T	0.37915	1.17;1.18	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	T	0.48572	0.1507	L	0.51422	1.61	0.51233	D	0.999916	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.999;0.994;0.999	T	0.51387	-0.8712	10	0.66056	D	0.02	-17.8804	5.5295	0.16976	0.773:0.0:0.227:0.0	.	90;90;90	Q8NEC0;Q96AE7;G3XAB3	.;TTC17_HUMAN;.	N	90	ENSP00000299240:K90N;ENSP00000039989:K90N	ENSP00000039989:K90N	K	+	3	2	TTC17	43367798	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.537000	0.60643	1.944000	0.56390	0.460000	0.39030	AAA		0.393	TTC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389577.2	NM_018259	
OR4D9	390199	broad.mit.edu	37	11	59282555	59282555	+	Missense_Mutation	SNP	C	C	T	rs535085659		TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr11:59282555C>T	ENST00000329328.3	+	1	170	c.170C>T	c.(169-171)aCg>aTg	p.T57M		NM_001004711.1	NP_001004711.1	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D, member 9	57						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						CACCTTCATACGCCCATGTAC	0.433																																						uc010rkv.1																			0					0						c.(169-171)ACG>ATG		olfactory receptor, family 4, subfamily D,							235.0	228.0	230.0					11																	59282555		2201	4295	6496	SO:0001583	missense	390199				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59282555C>T	AB065861	CCDS31564.1	11q12.1	2012-08-09	2003-12-15		ENSG00000172742	ENSG00000172742		"""GPCR / Class A : Olfactory receptors"""	15178	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily D, member 9 pseudogene"""				Standard	NM_001004711		Approved		uc010rkv.2	Q8NGE8	OTTHUMG00000167343	ENST00000329328.3:c.170C>T	11.37:g.59282555C>T	ENSP00000328563:p.Thr57Met						p.T57M	NM_001004711	NP_001004711	Q8NGE8	OR4D9_HUMAN			1	170	+			57			Cytoplasmic (Potential).		Q6IFF3	Missense_Mutation	SNP	ENST00000329328.3	37	c.170C>T	CCDS31564.1	.	.	.	.	.	.	.	.	.	.	C	4.875	0.162652	0.09287	.	.	ENSG00000172742	ENST00000329328	T	0.00481	7.11	4.29	1.24	0.21308	GPCR, rhodopsin-like superfamily (1);	0.200392	0.24067	U	0.041851	T	0.00468	0.0015	M	0.83384	2.64	0.09310	N	0.999997	P	0.42973	0.796	B	0.31614	0.133	T	0.50039	-0.8874	10	0.62326	D	0.03	.	8.5391	0.33382	0.0:0.7273:0.0:0.2727	.	57	Q8NGE8	OR4D9_HUMAN	M	57	ENSP00000328563:T57M	ENSP00000328563:T57M	T	+	2	0	OR4D9	59039131	0.000000	0.05858	0.883000	0.34634	0.050000	0.14768	0.102000	0.15272	0.341000	0.23771	-0.136000	0.14681	ACG		0.433	OR4D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394237.1	NM_001004711	
GLB1L3	112937	broad.mit.edu	37	11	134182345	134182345	+	Missense_Mutation	SNP	G	G	A	rs200296164	byFrequency	TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr11:134182345G>A	ENST00000431683.2	+	14	1390	c.1390G>A	c.(1390-1392)Gga>Aga	p.G464R		NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	464					carbohydrate metabolic process (GO:0005975)		beta-galactosidase activity (GO:0004565)			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		CATCTGCTCCGGAGGCCGCCT	0.607													G|||	3	0.000599042	0.0023	0.0	5008	,	,		19163	0.0		0.0	False		,,,				2504	0.0					uc009zdf.2																			0				pancreas(1)	1						c.(1390-1392)GGA>AGA		galactosidase, beta 1 like 3		G	ARG/GLY	11,4165		0,11,2077	41.0	45.0	43.0		1390	2.8	0.1	11		43	0,8430		0,0,4215	yes	missense	GLB1L3	NM_001080407.2	125	0,11,6292	AA,AG,GG		0.0,0.2634,0.0873	possibly-damaging	464/654	134182345	11,12595	2088	4215	6303	SO:0001583	missense	112937				carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr11:134182345G>A		CCDS44780.1	11q25	2008-11-06	2008-01-29		ENSG00000166105	ENSG00000166105			25147	protein-coding gene	gene with protein product						12477932	Standard	NM_001080407		Approved	FLJ90231	uc009zdf.3	Q8NCI6	OTTHUMG00000133524	ENST00000431683.2:c.1390G>A	11.37:g.134182345G>A	ENSP00000396615:p.Gly464Arg					GLB1L3_uc001qho.3_RNA	p.G464R	NM_001080407	NP_001073876	Q8NCI6	GLBL3_HUMAN		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)	14	1750	+	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)	464					A6NEM0|A6NN15|Q6P3S3|Q96FF8	Missense_Mutation	SNP	ENST00000431683.2	37	c.1390G>A	CCDS44780.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	13.88	2.368579	0.42003	0.002634	0.0	ENSG00000166105	ENST00000431683	D	0.93189	-3.18	4.69	2.82	0.32997	.	0.344621	0.33327	N	0.005023	D	0.92166	0.7516	M	0.84773	2.715	0.32127	N	0.587254	B	0.21452	0.056	B	0.18561	0.022	D	0.90117	0.4196	10	0.49607	T	0.09	.	8.5103	0.33213	0.1847:0.0:0.8153:0.0	.	464	Q8NCI6	GLBL3_HUMAN	R	464	ENSP00000396615:G464R	ENSP00000396615:G464R	G	+	1	0	GLB1L3	133687555	0.934000	0.31675	0.103000	0.21229	0.009000	0.06853	2.393000	0.44442	0.705000	0.31890	0.655000	0.94253	GGA		0.607	GLB1L3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393625.1	NM_138416	
KLRD1	3824	broad.mit.edu	37	12	10466085	10466085	+	Missense_Mutation	SNP	A	A	T			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr12:10466085A>T	ENST00000381907.4	+	6	594	c.392A>T	c.(391-393)gAg>gTg	p.E131V	KLRD1_ENST00000381908.3_Missense_Mutation_p.E132V|KLRD1_ENST00000543420.1_3'UTR|KLRD1_ENST00000543777.1_Missense_Mutation_p.E110V|KLRD1_ENST00000350274.5_Missense_Mutation_p.E100V|KLRD1_ENST00000336164.4_Missense_Mutation_p.E131V	NM_001114396.1	NP_001107868	Q13241	KLRD1_HUMAN	killer cell lectin-like receptor subfamily D, member 1	131	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	10						TGGTTGTGGGAGAATGGCTCT	0.418																																						uc001qxw.3																			0					0						c.(391-393)GAG>GTG		killer cell lectin-like receptor subfamily D,							160.0	152.0	155.0					12																	10466085		2203	4300	6503	SO:0001583	missense	3824				cell surface receptor linked signaling pathway|regulation of immune response	integral to membrane|plasma membrane	sugar binding|transmembrane receptor activity	g.chr12:10466085A>T	U30610	CCDS8621.1, CCDS8622.1	12p13	2009-12-03						"""Killer cell lectin-like receptors"", ""CD molecules"""	6378	protein-coding gene	gene with protein product		602894		CD94		7589107	Standard	NM_002262		Approved		uc001qxx.4	Q13241		ENST00000381907.4:c.392A>T	12.37:g.10466085A>T	ENSP00000371332:p.Glu131Val					KLRD1_uc001qxx.3_Missense_Mutation_p.E131V|KLRD1_uc001qxy.3_Missense_Mutation_p.E100V|KLRD1_uc009zhh.2_Missense_Mutation_p.E110V|KLRD1_uc009zhi.2_3'UTR|KLRD1_uc001qxz.3_Missense_Mutation_p.E132V	p.E131V	NM_001114396	NP_001107868	Q13241	KLRD1_HUMAN			6	589	+			131			Extracellular (Potential).|C-type lectin.		O43321|O43773|Q9UBE3|Q9UEQ0	Missense_Mutation	SNP	ENST00000381907.4	37	c.392A>T	CCDS8621.1	.	.	.	.	.	.	.	.	.	.	A	14.59	2.582057	0.46006	.	.	ENSG00000134539	ENST00000544747;ENST00000381907;ENST00000381908;ENST00000336164;ENST00000350274;ENST00000543777	T;T;T;T;T;T	0.15372	2.43;2.43;2.43;2.43;2.43;2.43	5.65	4.47	0.54385	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.382745	0.22210	N	0.063101	T	0.36991	0.0987	M	0.68317	2.08	0.32457	N	0.544654	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.97110	0.998;0.967;0.999;1.0	T	0.50320	-0.8842	10	0.66056	D	0.02	.	9.0293	0.36249	0.8359:0.0:0.0:0.1641	.	110;132;100;131	F6WZH4;Q13241-2;Q13241-3;Q13241	.;.;.;KLRD1_HUMAN	V	100;131;132;131;100;110	ENSP00000438669:E100V;ENSP00000371332:E131V;ENSP00000371333:E132V;ENSP00000338130:E131V;ENSP00000310929:E100V;ENSP00000443584:E110V	ENSP00000338130:E131V	E	+	2	0	KLRD1	10357352	0.961000	0.32948	0.874000	0.34290	0.124000	0.20399	1.796000	0.38794	1.024000	0.39682	0.528000	0.53228	GAG		0.418	KLRD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399684.2	NM_002262	
TEP1	7011	broad.mit.edu	37	14	20848171	20848171	+	Missense_Mutation	SNP	A	A	G			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr14:20848171A>G	ENST00000262715.5	-	35	5085	c.5045T>C	c.(5044-5046)gTg>gCg	p.V1682A	TEP1_ENST00000545983.1_Missense_Mutation_p.V20A|TEP1_ENST00000556935.1_Missense_Mutation_p.V1574A	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1682					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GGAGAAGGCCACAGCAGTAGG	0.507																																						uc001vxe.2																			0				ovary(5)	5						c.(5044-5046)GTG>GCG		telomerase-associated protein 1							85.0	81.0	83.0					14																	20848171		2203	4300	6503	SO:0001583	missense	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20848171A>G		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.5045T>C	14.37:g.20848171A>G	ENSP00000262715:p.Val1682Ala					TEP1_uc010ahk.2_Missense_Mutation_p.V1025A|TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Missense_Mutation_p.V1574A|TEP1_uc010tlh.1_Missense_Mutation_p.V20A	p.V1682A	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	35	5085	-	all_cancers(95;0.00123)	all_lung(585;0.235)	1682			WD 2.		A0AUV9	Missense_Mutation	SNP	ENST00000262715.5	37	c.5045T>C	CCDS9548.1	.	.	.	.	.	.	.	.	.	.	A	14.37	2.515704	0.44763	.	.	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935;ENST00000545983	T;T;T	0.55052	0.54;1.39;1.39	5.48	4.32	0.51571	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.270358	0.37393	N	0.002103	T	0.65863	0.2732	M	0.82716	2.605	0.28607	N	0.908862	P;B;D;B	0.69078	0.9;0.015;0.997;0.009	P;B;P;B	0.55391	0.525;0.018;0.775;0.012	T	0.64491	-0.6395	10	0.54805	T	0.06	-21.5942	9.4182	0.38534	0.9167:0.0:0.0833:0.0	.	20;1574;1025;1682	B4E0B6;G3V5X7;G3V2A4;Q99973	.;.;.;TEP1_HUMAN	A	1682;1682;1574;20	ENSP00000262715:V1682A;ENSP00000452574:V1574A;ENSP00000438849:V20A	ENSP00000262715:V1682A	V	-	2	0	TEP1	19918011	0.950000	0.32346	0.940000	0.37924	0.021000	0.10359	3.198000	0.51035	0.892000	0.36259	0.533000	0.62120	GTG		0.507	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110	
CHD8	57680	broad.mit.edu	37	14	21860822	21860832	+	Frame_Shift_Del	DEL	AGGAGTCAATG	AGGAGTCAATG	-			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr14:21860822_21860832delAGGAGTCAATG	ENST00000557364.1	-	34	6868_6878	c.6605_6615delCATTGACTCCT	c.(6604-6615)tcattgactcctfs	p.SLTP2202fs	SNORD9_ENST00000362566.1_RNA|CHD8_ENST00000430710.3_Frame_Shift_Del_p.SLTP1923fs|CHD8_ENST00000555962.1_5'Flank|CHD8_ENST00000399982.2_Frame_Shift_Del_p.SLTP2202fs			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	2202					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		CATATTCTCCAGGAGTCAATGAGGGACTGTC	0.555																																						uc001was.1																			0				ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1)	10						c.(5767-5778)TCATTGACTCCTfs		chromodomain helicase DNA binding protein 8																																				SO:0001589	frameshift_variant	57680				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	g.chr14:21860822_21860832delAGGAGTCAATG	AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"""helicase with SNF2 domain 1"""	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.6605_6615delCATTGACTCCT	14.37:g.21860822_21860832delAGGAGTCAATG	ENSP00000451601:p.Ser2202fs					CHD8_uc001war.1_Frame_Shift_Del_p.S1819fs|SNORD9_uc001wat.1_5'Flank	p.S1923fs	NM_020920	NP_065971	Q9HCK8	CHD8_HUMAN	Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)	34	5862_5872	-	all_cancers(95;0.00121)		2202_2205					Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Frame_Shift_Del	DEL	ENST00000557364.1	37	c.5768_5778delCATTGACTCCT	CCDS53885.1																																																																																				0.555	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	NM_020920	
TMEM229B	161145	broad.mit.edu	37	14	67940502	67940502	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr14:67940502C>T	ENST00000557006.1	-	4	421	c.139G>A	c.(139-141)Gtg>Atg	p.V47M	TMEM229B_ENST00000357461.2_Missense_Mutation_p.V47M			Q8NBD8	T229B_HUMAN	transmembrane protein 229B	47						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						AGGGCCCACACGCTCGTGACC	0.617																																						uc001xjk.2																			0				central_nervous_system(1)	1						c.(139-141)GTG>ATG		transmembrane protein 229B							61.0	41.0	48.0					14																	67940502		2203	4300	6503	SO:0001583	missense	161145					integral to membrane		g.chr14:67940502C>T	AK090706	CCDS9783.1	14q23.3-q24.1	2009-09-22	2009-09-22	2009-09-22	ENSG00000198133	ENSG00000198133			20130	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 83"""	C14orf83			Standard	NM_182526		Approved	FLJ33387	uc001xjk.3	Q8NBD8		ENST00000557006.1:c.139G>A	14.37:g.67940502C>T	ENSP00000451774:p.Val47Met					TMEM229B_uc001xjj.1_RNA	p.V47M	NM_182526	NP_872332	Q8NBD8	T229B_HUMAN			3	549	-			47			Helical; (Potential).			Missense_Mutation	SNP	ENST00000557006.1	37	c.139G>A	CCDS9783.1	.	.	.	.	.	.	.	.	.	.	c	26.4	4.736198	0.89482	.	.	ENSG00000198133	ENST00000557006;ENST00000357461;ENST00000554278;ENST00000554480;ENST00000555994;ENST00000557779	.	.	.	4.82	4.82	0.62117	.	0.368825	0.30374	N	0.009769	T	0.76884	0.4050	M	0.67953	2.075	0.80722	D	1	D	0.76494	0.999	D	0.67900	0.954	T	0.78178	-0.2305	9	0.48119	T	0.1	-25.5356	17.9318	0.88999	0.0:1.0:0.0:0.0	.	47	Q8NBD8	T229B_HUMAN	M	47	.	ENSP00000350050:V47M	V	-	1	0	TMEM229B	67010255	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.996000	0.70639	2.233000	0.73108	0.450000	0.29827	GTG		0.617	TMEM229B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412718.2	NM_182526	
OR4N3P	390539	broad.mit.edu	37	15	22414262	22414262	+	IGR	SNP	C	C	T	rs1429510	byFrequency	TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr15:22414262C>T								RP11-69H14.6 (30454 upstream) : RP11-2F9.4 (19627 downstream)																							CTTTCCCAGCCGACAAGGTGG	0.453																																						uc001yuf.2																			0					0						c.(559-561)GCC>GCT		RecName: Full=Olfactory receptor 4N2; AltName: Full=Olfactory receptor OR14-8; AltName: Full=Olfactory receptor OR14-13;																																				SO:0001628	intergenic_variant	390539							g.chr15:22414262C>T																													15.37:g.22414262C>T							p.A187A	NM_001080841	NP_001074310					1	561	+									Silent	SNP		37	c.561C>T																																																																																				0	0.453								
GOLGA8DP	100132979	broad.mit.edu	37	15	22709197	22709197	+	RNA	SNP	A	A	G			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr15:22709197A>G	ENST00000314246.8	-	0	1199				RN7SL545P_ENST00000495815.2_RNA			Q0D2H9	GOG8D_HUMAN	golgin A8 family, member D, pseudogene							Golgi apparatus (GO:0005794)											CTGCAGCTCCACCTCAGAGGG	0.532																																						uc010axw.2																			0					0						c.(301-303)GTG>GCG		golgi autoantigen, golgin subfamily a, 8E																																						100132979							g.chr15:22709197A>G			15q11.2	2014-04-10	2011-04-15	2010-02-12	ENSG00000185182	ENSG00000185182			32376	pseudogene	pseudogene			"""golgi autoantigen, golgin subfamily a, 8D"""	GOLGA8D		12477932	Standard	NR_027407		Approved		uc010axw.2	Q0D2H9	OTTHUMG00000171882		15.37:g.22709197A>G						GOLGA8DP_uc010axx.2_Missense_Mutation_p.V101A|uc010tzw.1_5'Flank	p.V101A	NM_001012423	NP_001012423					11	1200	-									Missense_Mutation	SNP	ENST00000314246.8	37	c.302T>C		.	.	.	.	.	.	.	.	.	.	a	0.847	-0.739941	0.03088	.	.	ENSG00000185182	ENST00000341390;ENST00000314246;ENST00000317692	.	.	.	0.887	-1.77	0.07982	.	.	.	.	.	T	0.44159	0.1280	.	.	.	0.21184	N	0.999769	D	0.67145	0.996	D	0.76071	0.987	T	0.49986	-0.8880	6	0.09843	T	0.71	.	3.1895	0.06612	0.3837:0.0:0.3831:0.2331	.	101	F8WBT8	.	A	101;101;319	.	ENSP00000327024:V101A	V	-	2	0	AC116165.1	20260561	0.001000	0.12720	0.003000	0.11579	0.053000	0.15095	-0.607000	0.05648	-2.964000	0.00289	-1.767000	0.00664	GTG		0.532	GOLGA8DP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415613.1	NR_027407	
PTX4	390667	broad.mit.edu	37	16	1537571	1537571	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr16:1537571C>T	ENST00000447419.2	-	2	567	c.542G>A	c.(541-543)gGc>gAc	p.G181D	PTX4_ENST00000293922.1_Missense_Mutation_p.G176D|PTX4_ENST00000440447.2_Intron			Q96A99	PTX4_HUMAN	pentraxin 4, long	181						extracellular region (GO:0005576)	metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						GGCTGCAGTGCCAGGGTGGGC	0.726																																						uc010uvf.1																			0					0						c.(526-528)GGC>GAC		neuronal pentraxin II-like							10.0	12.0	11.0					16																	1537571		2173	4239	6412	SO:0001583	missense	390667					extracellular region	metal ion binding	g.chr16:1537571C>T		CCDS32362.1	16p13.3	2011-01-06	2010-03-30	2010-03-30	ENSG00000251692	ENSG00000251692			14171	protein-coding gene	gene with protein product		613442	"""chromosome 16 open reading frame 38"""	C16orf38			Standard	NM_001013658		Approved		uc010uvf.2	Q96A99		ENST00000447419.2:c.542G>A	16.37:g.1537571C>T	ENSP00000445277:p.Gly181Asp						p.G176D	NM_001013658	NP_001013680	Q96A99	PTX4_HUMAN			2	527	-			181						Missense_Mutation	SNP	ENST00000447419.2	37	c.527G>A		.	.	.	.	.	.	.	.	.	.	C	11.75	1.730350	0.30684	.	.	ENSG00000251692	ENST00000447419;ENST00000293922	T;T	0.05925	3.54;3.37	4.87	2.69	0.31865	.	2.118290	0.01801	N	0.032886	T	0.08582	0.0213	L	0.48642	1.525	0.09310	N	1	B	0.22003	0.063	B	0.17433	0.018	T	0.30238	-0.9985	10	0.49607	T	0.09	.	5.7418	0.18098	0.0:0.6301:0.2588:0.1111	.	176	Q96A99-2	.	D	181;176	ENSP00000445277:G181D;ENSP00000293922:G176D	ENSP00000293922:G176D	G	-	2	0	PTX4	1477572	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.222000	0.09190	1.196000	0.43129	0.655000	0.94253	GGC		0.726	PTX4-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000432526.1	NM_001013658	
PRKCB	5579	broad.mit.edu	37	16	24104126	24104126	+	Missense_Mutation	SNP	A	A	T			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr16:24104126A>T	ENST00000321728.7	+	6	719	c.544A>T	c.(544-546)Aac>Tac	p.N182Y	PRKCB_ENST00000482000.1_3'UTR|PRKCB_ENST00000303531.7_Missense_Mutation_p.N182Y	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta	182	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				apoptotic process (GO:0006915)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|histone H3-T6 phosphorylation (GO:0035408)|intracellular signal transduction (GO:0035556)|lipoprotein transport (GO:0042953)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|histone kinase activity (H3-T6 specific) (GO:0035403)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Tamoxifen(DB00675)|Vitamin E(DB00163)	AGATGCTAAAAACCTTGTACC	0.418																																						uc002dmd.2																			0				ovary(3)|central_nervous_system(3)|lung(2)|large_intestine(1)	9						c.(544-546)AAC>TAC		protein kinase C, beta isoform 1	Vitamin E(DB00163)						147.0	130.0	136.0					16																	24104126		2197	4300	6497	SO:0001583	missense	5579				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding	g.chr16:24104126A>T	M13975	CCDS10618.1, CCDS10619.1	16p12	2009-07-10	2008-08-18	2008-08-18	ENSG00000166501	ENSG00000166501	2.7.11.1		9395	protein-coding gene	gene with protein product		176970	"""protein kinase C, beta 1"""	PRKCB2, PKCB, PRKCB1		3658678	Standard	NM_002738		Approved		uc002dme.3	P05771	OTTHUMG00000131615	ENST00000321728.7:c.544A>T	16.37:g.24104126A>T	ENSP00000318315:p.Asn182Tyr					PRKCB_uc002dme.2_Missense_Mutation_p.N182Y	p.N182Y	NM_212535	NP_997700	P05771	KPCB_HUMAN			6	741	+			182			C2.		C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	Missense_Mutation	SNP	ENST00000321728.7	37	c.544A>T	CCDS10618.1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.460492	0.84317	.	.	ENSG00000166501	ENST00000321728;ENST00000303531	T;T	0.52526	0.66;0.66	5.18	5.18	0.71444	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.79269	0.4417	H	0.97707	4.06	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.99;0.994	D	0.86662	0.1905	10	0.72032	D	0.01	.	14.4992	0.67709	1.0:0.0:0.0:0.0	.	182;182	P05771-2;P05771	.;KPCB_HUMAN	Y	182	ENSP00000318315:N182Y;ENSP00000305355:N182Y	ENSP00000305355:N182Y	N	+	1	0	PRKCB	24011627	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.119000	0.77145	2.083000	0.62718	0.454000	0.30748	AAC		0.418	PRKCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254504.2	NM_212535	
SPNS1	83985	broad.mit.edu	37	16	28992797	28992797	+	Missense_Mutation	SNP	C	C	A			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr16:28992797C>A	ENST00000311008.11	+	6	1047	c.670C>A	c.(670-672)Ccg>Acg	p.P224T	SPNS1_ENST00000352260.7_Missense_Mutation_p.P202T|SPNS1_ENST00000565975.1_Missense_Mutation_p.P269T|SPNS1_ENST00000334536.8_Missense_Mutation_p.P224T|SPNS1_ENST00000561868.1_3'UTR|SPNS1_ENST00000323081.8_Missense_Mutation_p.P151T|RP11-264B17.3_ENST00000569969.1_RNA|RP11-264B17.4_ENST00000567209.1_RNA	NM_032038.2	NP_114427.1	Q9H2V7	SPNS1_HUMAN	spinster homolog 1 (Drosophila)	224					lipid transport (GO:0006869)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|mitochondrial inner membrane (GO:0005743)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)|urinary_tract(1)	21						CCAGGTGACACCGGGTCTAGG	0.622											OREG0023712	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc010vdi.1																			0					0						c.(670-672)CCG>ACG		spinster homolog 1 isoform 1							67.0	67.0	67.0					16																	28992797		2197	4300	6497	SO:0001583	missense	83985				lipid transport|transmembrane transport	integral to membrane|mitochondrial inner membrane	protein binding	g.chr16:28992797C>A	BC006156	CCDS10646.1, CCDS45452.1, CCDS45453.1, CCDS45454.1	16p11.2	2007-04-12			ENSG00000169682	ENSG00000169682			30621	protein-coding gene	gene with protein product		612583				11340170, 12815463	Standard	NM_032038		Approved	HSpin1, nrs, SPINL, PP2030, SPIN1, LAT	uc010vdi.1	Q9H2V7	OTTHUMG00000131762	ENST00000311008.11:c.670C>A	16.37:g.28992797C>A	ENSP00000309945:p.Pro224Thr		OREG0023712	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	806	uc010vct.1_Intron|SPNS1_uc002drx.2_Missense_Mutation_p.P151T|SPNS1_uc002dsa.2_Missense_Mutation_p.P224T|SPNS1_uc002drz.2_Missense_Mutation_p.P224T|SPNS1_uc010byp.2_Missense_Mutation_p.P202T|SPNS1_uc010byq.1_Missense_Mutation_p.P156T	p.P224T	NM_001142448	NP_001135920	Q9H2V7	SPNS1_HUMAN			7	810	+			224			Helical; (Potential).		B5MDM9|Q6P182|Q71RB5|Q7L541|Q86VU7|Q8N953|Q8TCS5|Q9BRN5	Missense_Mutation	SNP	ENST00000311008.11	37	c.670C>A	CCDS10646.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.724528	0.89298	.	.	ENSG00000169682	ENST00000311008;ENST00000334536;ENST00000352260;ENST00000323081	T;T;T;T	0.56103	0.48;0.48;0.48;0.48	4.91	4.91	0.64330	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.74465	0.3720	M	0.82433	2.59	0.80722	D	1	D;D;D;D	0.89917	0.999;0.997;0.998;1.0	D;D;D;D	0.97110	0.976;0.976;0.986;1.0	T	0.78755	-0.2080	10	0.87932	D	0	.	15.6352	0.76946	0.0:1.0:0.0:0.0	.	151;202;224;224	Q9H2V7-4;Q9H2V7-3;Q9H2V7;Q9H2V7-2	.;.;SPNS1_HUMAN;.	T	224;224;202;151	ENSP00000309945:P224T;ENSP00000335494:P224T;ENSP00000306050:P202T;ENSP00000318228:P151T	ENSP00000309945:P224T	P	+	1	0	SPNS1	28900298	0.998000	0.40836	1.000000	0.80357	0.989000	0.77384	5.888000	0.69758	2.557000	0.86248	0.655000	0.94253	CCG		0.622	SPNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254690.2	NM_032038	
SETD1A	9739	broad.mit.edu	37	16	30970183	30970183	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr16:30970183G>A	ENST00000262519.8	+	2	817	c.131G>A	c.(130-132)gGa>gAa	p.G44E		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	44					histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						CGCTATGATGGAGTCCACTTC	0.597																																						uc002ead.1																			0				ovary(2)|skin(1)	3						c.(130-132)GGA>GAA		SET domain containing 1A							102.0	96.0	98.0					16																	30970183		2197	4300	6497	SO:0001583	missense	9739				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding	g.chr16:30970183G>A	AB002337	CCDS32435.1	16p11.2	2013-02-12			ENSG00000099381	ENSG00000099381		"""Chromatin-modifying enzymes / K-methyltransferases"", ""RNA binding motif (RRM) containing"""	29010	protein-coding gene	gene with protein product		611052				9205841, 12670868	Standard	XM_005255723		Approved	KIAA0339, Set1, KMT2F	uc002ead.1	O15047	OTTHUMG00000150474	ENST00000262519.8:c.131G>A	16.37:g.30970183G>A	ENSP00000262519:p.Gly44Glu					SETD1A_uc002eae.1_Missense_Mutation_p.G44E	p.G44E	NM_014712	NP_055527	O15047	SET1A_HUMAN			2	817	+			44					A6NP62|Q6PIF3|Q8TAJ6	Missense_Mutation	SNP	ENST00000262519.8	37	c.131G>A	CCDS32435.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.013113	0.75161	.	.	ENSG00000099381	ENST00000262519;ENST00000452917;ENST00000449974	D	0.98280	-4.84	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	D	0.98909	0.9630	M	0.79805	2.47	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99866	1.1089	10	0.87932	D	0	.	17.5247	0.87796	0.0:0.0:1.0:0.0	.	44	O15047	SET1A_HUMAN	E	44	ENSP00000262519:G44E	ENSP00000262519:G44E	G	+	2	0	SETD1A	30877684	1.000000	0.71417	0.993000	0.49108	0.990000	0.78478	9.316000	0.96319	2.426000	0.82243	0.655000	0.94253	GGA		0.597	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318244.2	NM_014712	
PLD2	5338	broad.mit.edu	37	17	4714202	4714202	+	Silent	SNP	G	G	A			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr17:4714202G>A	ENST00000263088.6	+	10	1097	c.966G>A	c.(964-966)cgG>cgA	p.R322R	PLD2_ENST00000572940.1_Silent_p.R322R	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	322					cytoskeleton organization (GO:0007010)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G-protein coupled receptor internalization (GO:0002031)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response (GO:0045087)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	brush border membrane (GO:0031526)|endoplasmic reticulum membrane (GO:0005789)|plasma membrane (GO:0005886)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	AGCTGCACCGGCATGACAGCT	0.617																																						uc002fzc.2																			0				breast(2)|upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	5						c.(964-966)CGG>CGA		phospholipase D2	Choline(DB00122)						60.0	57.0	58.0					17																	4714202		2203	4300	6503	SO:0001819	synonymous_variant	5338				cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	g.chr17:4714202G>A	AF035483	CCDS11057.1, CCDS58507.1	17p13.3	2008-04-14			ENSG00000129219	ENSG00000129219	3.1.4.4		9068	protein-coding gene	gene with protein product	"""choline phosphatase 2"""	602384				9858823, 9582313	Standard	NM_002663		Approved		uc002fzc.3	O14939	OTTHUMG00000090779	ENST00000263088.6:c.966G>A	17.37:g.4714202G>A						PLD2_uc010vsj.1_Silent_p.R179R|PLD2_uc002fzd.2_Silent_p.R322R	p.R322R	NM_002663	NP_002654	O14939	PLD2_HUMAN			10	1067	+			322					I3L2C9|O43540|O43579|O43580|Q6PGR0|Q96BY3	Silent	SNP	ENST00000263088.6	37	c.966G>A	CCDS11057.1																																																																																				0.617	PLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207561.3	NM_002663	
ZPBP2	124626	broad.mit.edu	37	17	38027064	38027064	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr17:38027064C>T	ENST00000348931.4	+	3	427	c.236C>T	c.(235-237)aCg>aTg	p.T79M	ZPBP2_ENST00000377940.3_Missense_Mutation_p.T57M|ZPBP2_ENST00000584588.1_Missense_Mutation_p.T79M	NM_199321.2	NP_955353.1	Q6X784	ZPBP2_HUMAN	zona pellucida binding protein 2	79					acrosome assembly (GO:0001675)|binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|extracellular region (GO:0005576)|nucleus (GO:0005634)|zona pellucida receptor complex (GO:0002199)				kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15	Colorectal(19;0.000442)		Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171)			AATGAAAAGACGTTAACAGGT	0.284																																						uc002hte.2																			0				ovary(1)	1						c.(235-237)ACG>ATG		zona pellucida binding protein 2 isoform 2							53.0	56.0	55.0					17																	38027064		2203	4289	6492	SO:0001583	missense	124626				binding of sperm to zona pellucida	extracellular region		g.chr17:38027064C>T	BC043152	CCDS11352.1, CCDS11353.2	17q21.1	2013-01-11			ENSG00000186075	ENSG00000186075		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	20678	protein-coding gene	gene with protein product		608499					Standard	XM_005257031		Approved	ZPBPL, MGC41930	uc002hte.3	Q6X784	OTTHUMG00000133022	ENST00000348931.4:c.236C>T	17.37:g.38027064C>T	ENSP00000335384:p.Thr79Met					ZPBP2_uc002htf.2_Missense_Mutation_p.T57M	p.T79M	NM_199321	NP_955353	Q6X784	ZPBP2_HUMAN	Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171)		3	389	+	Colorectal(19;0.000442)		79					A8K8L8|Q6X783|Q86XL5	Missense_Mutation	SNP	ENST00000348931.4	37	c.236C>T	CCDS11352.1	.	.	.	.	.	.	.	.	.	.	C	7.770	0.707218	0.15239	.	.	ENSG00000186075	ENST00000348931;ENST00000377940	T;T	0.77489	-1.1;-1.1	4.74	-0.151	0.13411	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.317880	0.05097	N	0.486406	T	0.67942	0.2947	L	0.47716	1.5	0.09310	N	1	B;B	0.27732	0.145;0.187	B;B	0.17098	0.01;0.017	T	0.49643	-0.8918	10	0.33141	T	0.24	0.4157	5.8556	0.18718	0.5982:0.2294:0.0:0.1724	.	57;79	Q6X784-2;Q6X784	.;ZPBP2_HUMAN	M	79;57	ENSP00000335384:T79M;ENSP00000367174:T57M	ENSP00000335384:T79M	T	+	2	0	ZPBP2	35280590	0.027000	0.19231	0.665000	0.29768	0.813000	0.45954	-0.022000	0.12480	0.016000	0.14998	0.563000	0.77884	ACG		0.284	ZPBP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256609.2	NM_198844	
AKAP1	8165	broad.mit.edu	37	17	55189944	55189944	+	Missense_Mutation	SNP	T	T	A			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr17:55189944T>A	ENST00000337714.3	+	5	2301	c.2068T>A	c.(2068-2070)Tca>Aca	p.S690T	AKAP1_ENST00000571629.1_Missense_Mutation_p.S690T|AKAP1_ENST00000539273.1_Missense_Mutation_p.S690T|AKAP1_ENST00000572557.1_Missense_Mutation_p.S690T	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1	690					blood coagulation (GO:0007596)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					CCCATTGCCTTCACTGGCACT	0.502																																						uc002iux.2																			0				ovary(1)	1						c.(2068-2070)TCA>ACA		A-kinase anchor protein 1 precursor							132.0	92.0	105.0					17																	55189944		2203	4300	6503	SO:0001583	missense	8165				blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	protein binding|RNA binding	g.chr17:55189944T>A	X97335	CCDS11594.1	17q22	2013-01-23			ENSG00000121057	ENSG00000121057		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Tudor domain containing"""	367	protein-coding gene	gene with protein product	"""protein kinase anchoring protein 1"", ""dual specificity A-kinase-anchoring protein 1"", ""protein phosphatase 1, regulatory subunit 43"", ""tudor domain containing 17"""	602449		PRKA1		8769136, 7499250	Standard	NM_003488		Approved	AKAP121, AKAP149, SAKAP84, S-AKAP84, AKAP84, D-AKAP1, PPP1R43, TDRD17	uc002iux.3	Q92667	OTTHUMG00000140369	ENST00000337714.3:c.2068T>A	17.37:g.55189944T>A	ENSP00000337736:p.Ser690Thr					AKAP1_uc010wnl.1_Missense_Mutation_p.S690T|AKAP1_uc002iuy.2_RNA|AKAP1_uc010dcm.2_Missense_Mutation_p.S690T	p.S690T	NM_003488	NP_003479	Q92667	AKAP1_HUMAN			5	2299	+	Breast(9;5.46e-08)		690					A8K8Q1|D3DTZ0|Q13320|Q9BW14	Missense_Mutation	SNP	ENST00000337714.3	37	c.2068T>A	CCDS11594.1	.	.	.	.	.	.	.	.	.	.	T	18.13	3.554714	0.65425	.	.	ENSG00000121057	ENST00000337714;ENST00000427138;ENST00000539273	T;T	0.15372	2.43;2.43	5.56	5.56	0.83823	.	0.121326	0.64402	D	0.000019	T	0.16300	0.0392	N	0.08118	0	0.80722	D	1	D	0.65815	0.995	P	0.59115	0.852	T	0.21655	-1.0239	10	0.19147	T	0.46	-16.5684	11.32	0.49417	0.1359:0.0:0.0:0.8641	.	690	Q92667	AKAP1_HUMAN	T	690;732;690	ENSP00000337736:S690T;ENSP00000443139:S690T	ENSP00000337736:S690T	S	+	1	0	AKAP1	52544943	0.993000	0.37304	0.986000	0.45419	0.854000	0.48673	3.295000	0.51794	2.116000	0.64780	0.459000	0.35465	TCA		0.502	AKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277069.1		
MPO	4353	broad.mit.edu	37	17	56352985	56352985	+	Missense_Mutation	SNP	G	G	C			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr17:56352985G>C	ENST00000225275.3	-	8	1459	c.1283C>G	c.(1282-1284)aCa>aGa	p.T428R	MPO_ENST00000340482.3_Missense_Mutation_p.T460R|MPO_ENST00000578493.1_5'UTR	NM_000250.1	NP_000241.1	P05164	PERM_HUMAN	myeloperoxidase	428					aging (GO:0007568)|defense response (GO:0006952)|defense response to fungus (GO:0050832)|hydrogen peroxide catabolic process (GO:0042744)|hypochlorous acid biosynthetic process (GO:0002149)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of apoptotic process (GO:0043066)|negative regulation of growth of symbiont in host (GO:0044130)|oxidation-reduction process (GO:0055114)|removal of superoxide radicals (GO:0019430)|respiratory burst involved in defense response (GO:0002679)|response to food (GO:0032094)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|response to yeast (GO:0001878)	azurophil granule (GO:0042582)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|secretory granule (GO:0030141)	chromatin binding (GO:0003682)|heme binding (GO:0020037)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Aminosalicylic Acid(DB00233)|Bivalirudin(DB00006)|Calcipotriol(DB02300)|Carboplatin(DB00958)|Cefaclor(DB00833)|Cefdinir(DB00535)|Cisplatin(DB00515)|Cysteamine(DB00847)|Dapsone(DB00250)|Enoxaparin(DB01225)|Human Serum Albumin(DB00062)|L-Carnitine(DB00583)|Melatonin(DB01065)|Mesalazine(DB00244)|Nabumetone(DB00461)|Octreotide(DB00104)|Oxaliplatin(DB00526)|Propylthiouracil(DB00550)|Ticlopidine(DB00208)|Tolmetin(DB00500)	CTTGAGCTCTGTGGCCAGCCG	0.617																																						uc002ivu.1																			0				ovary(2)|large_intestine(1)|pancreas(1)	4						c.(1282-1284)ACA>AGA		myeloperoxidase	Cefdinir(DB00535)						103.0	81.0	89.0					17																	56352985		2203	4300	6503	SO:0001583	missense	4353				anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity	g.chr17:56352985G>C		CCDS11604.1	17q21.3-q23	2014-09-17				ENSG00000005381	1.11.1.7		7218	protein-coding gene	gene with protein product		606989					Standard	NM_000250		Approved		uc002ivu.1	P05164		ENST00000225275.3:c.1283C>G	17.37:g.56352985G>C	ENSP00000225275:p.Thr428Arg						p.T428R	NM_000250	NP_000241	P05164	PERM_HUMAN			8	1460	-			428					A1L4B8|Q14862|Q4PJH5|Q9UCL7	Missense_Mutation	SNP	ENST00000225275.3	37	c.1283C>G	CCDS11604.1	.	.	.	.	.	.	.	.	.	.	G	0.181	-1.062290	0.01950	.	.	ENSG00000005381	ENST00000340482;ENST00000225275	T;T	0.72394	-0.65;-0.65	4.8	3.82	0.43975	.	0.398502	0.29707	N	0.011409	T	0.44350	0.1289	N	0.16743	0.435	0.28049	N	0.933446	B	0.15473	0.013	B	0.14023	0.01	T	0.32824	-0.9892	10	0.05721	T	0.95	-1.568	4.0834	0.09937	0.0847:0.2867:0.4762:0.1524	.	428	P05164	PERM_HUMAN	R	460;428	ENSP00000344419:T460R;ENSP00000225275:T428R	ENSP00000225275:T428R	T	-	2	0	MPO	53707984	0.069000	0.21087	0.583000	0.28640	0.411000	0.31082	0.416000	0.21198	1.000000	0.39049	0.462000	0.41574	ACA		0.617	MPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443971.1		
LRP3	4037	broad.mit.edu	37	19	33696170	33696170	+	Missense_Mutation	SNP	C	C	G			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr19:33696170C>G	ENST00000253193.7	+	5	696	c.494C>G	c.(493-495)tCc>tGc	p.S165C	CTD-2540B15.13_ENST00000609744.1_RNA	NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein 3	165	LDL-receptor class A 1. {ECO:0000255|PROSITE-ProRule:PRU00124}.				receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					GGCCAGGCATCCTGCCAGGCA	0.662																																						uc010edh.2																			0				pancreas(2)|ovary(1)	3						c.(493-495)TCC>TGC		low density lipoprotein receptor-related protein							17.0	15.0	16.0					19																	33696170		2202	4299	6501	SO:0001583	missense	4037				receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity	g.chr19:33696170C>G	AB009462	CCDS12430.1	19q13.11	2013-05-30			ENSG00000130881	ENSG00000130881		"""Low density lipoprotein receptors"""	6695	protein-coding gene	gene with protein product		603159				9693042, 7959795	Standard	NM_002333		Approved	LRP-3, hLRp105	uc010edh.3	O75074	OTTHUMG00000180343	ENST00000253193.7:c.494C>G	19.37:g.33696170C>G	ENSP00000253193:p.Ser165Cys					LRP3_uc010xrp.1_Missense_Mutation_p.S39C|LRP3_uc002nuk.3_Missense_Mutation_p.S39C	p.S165C	NM_002333	NP_002324	O75074	LRP3_HUMAN			5	587	+	Esophageal squamous(110;0.137)		165			Extracellular (Potential).|LDL-receptor class A 1.		B3KQD6|B4DKF2	Missense_Mutation	SNP	ENST00000253193.7	37	c.494C>G	CCDS12430.1	.	.	.	.	.	.	.	.	.	.	C	12.11	1.839231	0.32513	.	.	ENSG00000130881	ENST00000431491;ENST00000253193	D	0.95622	-3.76	4.02	2.99	0.34606	.	0.275949	0.35179	N	0.003397	D	0.95993	0.8695	M	0.75777	2.31	0.20563	N	0.999888	D;D;P	0.57571	0.97;0.98;0.938	P;P;P	0.57371	0.65;0.819;0.557	D	0.90200	0.4256	10	0.39692	T	0.17	-25.635	9.488	0.38942	0.0:0.8182:0.0:0.1818	.	39;165;83	C9J8W0;O75074;B7ZAJ9	.;LRP3_HUMAN;.	C	39;165	ENSP00000253193:S165C	ENSP00000253193:S165C	S	+	2	0	LRP3	38388010	0.352000	0.24895	0.838000	0.33150	0.659000	0.38960	0.790000	0.26900	0.926000	0.37118	-0.448000	0.05591	TCC		0.662	LRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450842.4		
ZNF540	163255	broad.mit.edu	37	19	38103381	38103381	+	Silent	SNP	G	G	A			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr19:38103381G>A	ENST00000592533.1	+	5	1532	c.1200G>A	c.(1198-1200)cgG>cgA	p.R400R	ZNF540_ENST00000343599.5_Silent_p.R400R|ZNF540_ENST00000316433.4_Silent_p.R400R|ZNF540_ENST00000589117.1_Silent_p.R368R	NM_152606.4	NP_689819.1	Q8NDQ6	ZN540_HUMAN	zinc finger protein 540	400					negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(13)|lung(8)|skin(1)	28			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGCTTAATCGGCATAAAACAA	0.373																																						uc002ogq.2																			0				large_intestine(1)	1						c.(1198-1200)CGG>CGA		zinc finger protein 540							120.0	114.0	116.0					19																	38103381		2203	4300	6503	SO:0001819	synonymous_variant	163255				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38103381G>A	AL832315	CCDS12506.1, CCDS54258.1	19q13.13	2013-01-08				ENSG00000171817		"""Zinc fingers, C2H2-type"", ""-"""	25331	protein-coding gene	gene with protein product		613903					Standard	NM_152606		Approved	DKFZp547B0714	uc002ogq.4	Q8NDQ6		ENST00000592533.1:c.1200G>A	19.37:g.38103381G>A						ZNF540_uc002ogu.2_Silent_p.R400R|ZNF540_uc010efq.2_Silent_p.R368R	p.R400R	NM_152606	NP_689819	Q8NDQ6	ZN540_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	1532	+			400			C2H2-type 8.		A0AVS5|A8K371|Q05D58|Q3LIC5|Q6ZN36|Q7Z3C8|Q86T31	Silent	SNP	ENST00000592533.1	37	c.1200G>A	CCDS12506.1																																																																																				0.373	ZNF540-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459481.1	NM_152606	
NCR1	9437	broad.mit.edu	37	19	55420766	55420766	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr19:55420766C>T	ENST00000291890.4	+	4	556	c.518C>T	c.(517-519)gCg>gTg	p.A173V	NCR1_ENST00000350790.5_Missense_Mutation_p.A78V|NCR1_ENST00000447255.1_Missense_Mutation_p.A173V|NCR1_ENST00000598576.1_Missense_Mutation_p.A161V|NCR1_ENST00000594765.1_Missense_Mutation_p.A173V|NCR1_ENST00000338835.5_Missense_Mutation_p.A173V|NCR1_ENST00000357397.5_Missense_Mutation_p.A66V	NM_004829.5	NP_004820.2	O76036	NCTR1_HUMAN	natural cytotoxicity triggering receptor 1	173	Ig-like 2.				cellular defense response (GO:0006968)|intracellular signal transduction (GO:0035556)|natural killer cell activation (GO:0030101)|regulation of natural killer cell mediated cytotoxicity (GO:0042269)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|SWI/SNF complex (GO:0016514)	receptor signaling protein activity (GO:0005057)	p.A173V(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		AAGGTCCAGGCGGAGTTCCCC	0.572																																						uc002qib.2																			1	Substitution - Missense(1)		endometrium(1)	large_intestine(1)|ovary(1)	2						c.(517-519)GCG>GTG		natural cytotoxicity triggering receptor 1							101.0	90.0	94.0					19																	55420766		2203	4300	6503	SO:0001583	missense	9437				cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane|SWI/SNF complex	receptor activity|receptor signaling protein activity	g.chr19:55420766C>T	AJ001383	CCDS12911.1, CCDS46181.1, CCDS46182.1, CCDS56103.1	19q13.42	2013-09-20	2002-11-13	2002-11-15	ENSG00000189430	ENSG00000189430		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6731	protein-coding gene	gene with protein product		604530	"""lymphocyte antigen 94 (mouse) homolog (activating NK-receptor; NK-p46)"""	LY94		9730896	Standard	NM_001145457		Approved	NK-p46, NKP46, CD335	uc002qib.2	O76036	OTTHUMG00000183212	ENST00000291890.4:c.518C>T	19.37:g.55420766C>T	ENSP00000291890:p.Ala173Val					NCR1_uc002qic.2_Missense_Mutation_p.A173V|NCR1_uc002qie.2_Missense_Mutation_p.A173V|NCR1_uc002qid.2_Missense_Mutation_p.A78V|NCR1_uc002qif.2_Missense_Mutation_p.A78V|NCR1_uc010esj.2_Missense_Mutation_p.A66V	p.A173V	NM_004829	NP_004820	O76036	NCTR1_HUMAN		GBM - Glioblastoma multiforme(193;0.0449)	4	556	+			173			Extracellular (Potential).|Ig-like 2.		B0V3L2|B0V3L3|B0V3L4|B0V3L5|B8JL03|O76016|O76017|O76018	Missense_Mutation	SNP	ENST00000291890.4	37	c.518C>T	CCDS12911.1	.	.	.	.	.	.	.	.	.	.	C	15.61	2.883361	0.51908	.	.	ENSG00000189430	ENST00000291890;ENST00000447255;ENST00000338835;ENST00000350790;ENST00000357397	T;T;T;T;T	0.03635	3.86;3.86;3.86;3.86;3.86	3.53	0.0573	0.14322	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.127958	0.35585	N	0.003113	T	0.08537	0.0212	M	0.64997	1.995	0.09310	N	1	D;D;D;D;D;D	0.89917	0.997;0.962;0.999;0.971;0.994;1.0	B;B;P;P;P;P	0.61003	0.439;0.444;0.575;0.523;0.53;0.882	T	0.13602	-1.0503	10	0.62326	D	0.03	.	3.3081	0.07007	0.0:0.5107:0.2197:0.2696	.	66;78;173;78;173;173	O76036-5;B0V3L4;B0V3L5;B0V3L2;O76036-6;O76036	.;.;.;.;.;NCTR1_HUMAN	V	173;173;173;78;66	ENSP00000291890:A173V;ENSP00000404434:A173V;ENSP00000339515:A173V;ENSP00000344358:A78V;ENSP00000349972:A66V	ENSP00000291890:A173V	A	+	2	0	NCR1	60112578	0.005000	0.15991	0.000000	0.03702	0.035000	0.12851	0.328000	0.19681	0.100000	0.17581	0.591000	0.81541	GCG		0.572	NCR1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465680.1		
APOB	338	broad.mit.edu	37	2	21228712	21228712	+	Silent	SNP	G	G	A			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr2:21228712G>A	ENST00000233242.1	-	26	11155	c.11028C>T	c.(11026-11028)atC>atT	p.I3676I		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3676					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGACTGGTAGGATGATATTTT	0.453																																						uc002red.2																			0				ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27						c.(11026-11028)ATC>ATT		apolipoprotein B precursor	Atorvastatin(DB01076)						100.0	95.0	96.0					2																	21228712		2203	4300	6503	SO:0001819	synonymous_variant	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21228712G>A	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.11028C>T	2.37:g.21228712G>A							p.I3676I	NM_000384	NP_000375	P04114	APOB_HUMAN			26	11156	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		3676					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	c.11028C>T	CCDS1703.1																																																																																				0.453	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1		
NLRC4	58484	broad.mit.edu	37	2	32460481	32460481	+	Missense_Mutation	SNP	A	A	C			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr2:32460481A>C	ENST00000404025.2	-	9	3259	c.2771T>G	c.(2770-2772)aTt>aGt	p.I924S	NLRC4_ENST00000360906.5_Missense_Mutation_p.I924S|NLRC4_ENST00000402280.1_Missense_Mutation_p.I924S|NLRC4_ENST00000342905.6_Missense_Mutation_p.I259S			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	924					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|defense response to bacterium (GO:0042742)|detection of bacterium (GO:0016045)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of apoptotic process (GO:0043065)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein homooligomerization (GO:0051260)|pyroptosis (GO:0070269)	cytosol (GO:0005829)|intracellular (GO:0005622)|IPAF inflammasome complex (GO:0072557)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)	p.I924T(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TAAAATTCTAATCTCTGTATC	0.428																																						uc002roi.2																			1	Substitution - Missense(1)		breast(1)	ovary(3)|large_intestine(1)|lung(1)|skin(1)	6						c.(2770-2772)ATT>AGT		caspase recruitment domain protein 12							163.0	160.0	161.0					2																	32460481		2203	4300	6503	SO:0001583	missense	58484				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity	g.chr2:32460481A>C	AF376061	CCDS33174.1	2p22-p21	2008-08-27	2006-12-08	2006-12-08	ENSG00000091106	ENSG00000091106		"""Nucleotide-binding domain and leucine rich repeat containing"""	16412	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4"", ""NOD-like receptor C4"""	606831	"""caspase recruitment domain family, member 12"""	CARD12		11374873	Standard	NM_021209		Approved	CLAN1, ipaf, CLANA, CLANB, CLANC, CLAND, CLR2.1, CLAN	uc021vfq.1	Q9NPP4	OTTHUMG00000152107	ENST00000404025.2:c.2771T>G	2.37:g.32460481A>C	ENSP00000385090:p.Ile924Ser					NLRC4_uc002roj.1_Missense_Mutation_p.I924S|NLRC4_uc010ezt.1_Missense_Mutation_p.I259S	p.I924S	NM_021209	NP_067032	Q9NPP4	NLRC4_HUMAN			8	3017	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)		924			LRR 11.		A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Missense_Mutation	SNP	ENST00000404025.2	37	c.2771T>G	CCDS33174.1	.	.	.	.	.	.	.	.	.	.	A	7.593	0.671219	0.14776	.	.	ENSG00000091106	ENST00000360906;ENST00000402280;ENST00000342905;ENST00000404025	T;T;T;T	0.55052	0.54;0.54;0.54;0.54	4.66	4.66	0.58398	.	0.214340	0.23413	N	0.048453	T	0.44932	0.1317	L	0.27053	0.805	0.36580	D	0.873506	P;P	0.48503	0.911;0.856	P;B	0.46917	0.531;0.247	T	0.62044	-0.6937	9	0.87932	D	0	-4.5577	10.3935	0.44188	1.0:0.0:0.0:0.0	.	259;924	Q9NPP4-2;Q9NPP4	.;NLRC4_HUMAN	S	924;924;259;924	ENSP00000354159:I924S;ENSP00000385428:I924S;ENSP00000339666:I259S;ENSP00000385090:I924S	ENSP00000339666:I259S	I	-	2	0	NLRC4	32313985	0.832000	0.29368	0.155000	0.22561	0.079000	0.17450	2.731000	0.47343	1.953000	0.56701	0.533000	0.62120	ATT		0.428	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325222.2	NM_021209	
CEP68	23177	broad.mit.edu	37	2	65296848	65296848	+	Silent	SNP	C	C	A	rs112673076	byFrequency	TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr2:65296848C>A	ENST00000377990.2	+	2	473	c.270C>A	c.(268-270)ccC>ccA	p.P90P	CEP68_ENST00000537589.1_Intron|CEP68_ENST00000546106.1_Silent_p.P90P|RAB1A_ENST00000494188.1_5'Flank|CEP68_ENST00000260569.4_Silent_p.P90P	NM_015147.2	NP_055962.2	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	90					centriole-centriole cohesion (GO:0010457)|centrosome organization (GO:0051297)|protein localization to organelle (GO:0033365)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)	p.P90P(1)		breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						ACAGAGAGCCCGTAGCTGAGA	0.627																																						uc002sdl.3																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(268-270)CCC>CCA		centrosomal protein 68kDa							45.0	49.0	48.0					2																	65296848		2203	4300	6503	SO:0001819	synonymous_variant	23177				centrosome organization	centrosome		g.chr2:65296848C>A	BC004873	CCDS1880.2	2p14	2014-02-20	2005-12-01	2005-12-01	ENSG00000011523	ENSG00000011523			29076	protein-coding gene	gene with protein product			"""KIAA0582"""	KIAA0582		9628581, 9847074, 14654843	Standard	NM_015147		Approved		uc002sdl.4	Q76N32	OTTHUMG00000129538	ENST00000377990.2:c.270C>A	2.37:g.65296848C>A						CEP68_uc002sdj.2_Silent_p.P90P|CEP68_uc010yqb.1_Silent_p.P90P|CEP68_uc002sdk.3_Silent_p.P90P|CEP68_uc010yqc.1_Silent_p.P90P|CEP68_uc010yqd.1_Silent_p.P90P	p.P90P	NM_015147	NP_055962	Q76N32	CEP68_HUMAN			2	484	+			90					B4DRQ1|D6W5F1|D6W5F2|O60326|Q9BQ18|Q9UDM9	Silent	SNP	ENST00000377990.2	37	c.270C>A	CCDS1880.2																																																																																				0.627	CEP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251727.2	NM_015147	
AMER3	205147	broad.mit.edu	37	2	131520873	131520873	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr2:131520873G>A	ENST00000423981.1	+	2	1338	c.1228G>A	c.(1228-1230)Gcc>Acc	p.A410T	AMER3_ENST00000321420.4_Missense_Mutation_p.A410T	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2	Q8N944	AMER3_HUMAN	APC membrane recruitment protein 3	410					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)										CACTCCTGCCGCCACCTTCCC	0.617																																						uc002trw.2																			0				pancreas(2)|ovary(1)	3						c.(1228-1230)GCC>ACC		hypothetical protein LOC205147							61.0	52.0	55.0					2																	131520873		2203	4300	6503	SO:0001583	missense	205147							g.chr2:131520873G>A	AK095696	CCDS2164.1	2q21.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000178171	ENSG00000178171		"""-"""	26771	protein-coding gene	gene with protein product			"""family with sequence similarity 123C"""	FAM123C		20843316	Standard	NM_001105195		Approved	FLJ38377	uc002trw.2	Q8N944	OTTHUMG00000131637	ENST00000423981.1:c.1228G>A	2.37:g.131520873G>A	ENSP00000392700:p.Ala410Thr					FAM123C_uc010fmv.2_Missense_Mutation_p.A410T|FAM123C_uc010fms.1_Missense_Mutation_p.A410T|FAM123C_uc010fmt.1_Missense_Mutation_p.A410T|FAM123C_uc010fmu.1_Missense_Mutation_p.A410T	p.A410T	NM_152698	NP_689911	Q8N944	F123C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.13)	2	1418	+	Colorectal(110;0.1)		410					B7ZLH6	Missense_Mutation	SNP	ENST00000423981.1	37	c.1228G>A	CCDS2164.1	.	.	.	.	.	.	.	.	.	.	G	12.74	2.029596	0.35797	.	.	ENSG00000178171	ENST00000321420;ENST00000423981	T;T	0.18502	2.21;2.21	5.2	3.32	0.38043	.	0.374201	0.22971	N	0.053428	T	0.18045	0.0433	L	0.27053	0.805	0.09310	N	1	D	0.58268	0.982	P	0.52646	0.705	T	0.04203	-1.0969	10	0.54805	T	0.06	.	8.915	0.35576	0.0:0.3086:0.5322:0.1592	.	410	Q8N944	F123C_HUMAN	T	410	ENSP00000314914:A410T;ENSP00000392700:A410T	ENSP00000314914:A410T	A	+	1	0	FAM123C	131237343	0.009000	0.17119	0.003000	0.11579	0.178000	0.23041	1.253000	0.32886	0.649000	0.30751	0.561000	0.74099	GCC		0.617	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254531.3	NM_152698	
SCN3A	6328	broad.mit.edu	37	2	165997260	165997260	+	Silent	SNP	T	T	C			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr2:165997260T>C	ENST00000360093.3	-	13	2411	c.1920A>G	c.(1918-1920)gcA>gcG	p.A640A	SCN3A_ENST00000409101.3_Intron|SCN3A_ENST00000283254.7_Silent_p.A640A	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	640					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TCTTCCCATTTGCTGGAAGCC	0.542																																						uc002ucx.2																			0				ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10						c.(1918-1920)GCA>GCG		sodium channel, voltage-gated, type III, alpha	Lamotrigine(DB00555)						207.0	162.0	177.0					2																	165997260		2203	4300	6503	SO:0001819	synonymous_variant	6328					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:165997260T>C	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.1920A>G	2.37:g.165997260T>C						SCN3A_uc002ucy.2_Intron|SCN3A_uc002ucz.2_Intron|SCN3A_uc002uda.1_Intron|SCN3A_uc002udb.1_Intron	p.A640A	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN			13	2412	-			640					Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Silent	SNP	ENST00000360093.3	37	c.1920A>G																																																																																					0.542	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922	
TTN	7273	broad.mit.edu	37	2	179647077	179647077	+	Missense_Mutation	SNP	G	G	A	rs528216574		TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr2:179647077G>A	ENST00000591111.1	-	20	3466	c.3242C>T	c.(3241-3243)gCg>gTg	p.A1081V	TTN_ENST00000360870.5_Missense_Mutation_p.A1081V|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.A1081V|TTN_ENST00000342992.6_Missense_Mutation_p.A1081V|TTN_ENST00000342175.6_Missense_Mutation_p.A1035V|TTN_ENST00000359218.5_Missense_Mutation_p.A1035V|TTN_ENST00000460472.2_Missense_Mutation_p.A1035V			Q8WZ42	TITIN_HUMAN	titin	32621			A -> T (in dbSNP:rs55914517). {ECO:0000269|PubMed:17344846}.		adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAAGTAAGGCGCGGCAGGTTC	0.502													G|||	1	0.000199681	0.0	0.0	5008	,	,		16429	0.001		0.0	False		,,,				2504	0.0					uc010zfg.1																			0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(3241-3243)GCG>GTG		titin isoform N2-A							55.0	57.0	56.0					2																	179647077		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179647077G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.3242C>T	2.37:g.179647077G>A	ENSP00000465570:p.Ala1081Val					TTN_uc010zfh.1_Missense_Mutation_p.A1035V|TTN_uc010zfi.1_Missense_Mutation_p.A1035V|TTN_uc010zfj.1_Missense_Mutation_p.A1035V|TTN_uc002unb.2_Missense_Mutation_p.A1081V	p.A1081V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		20	3466	-			1081					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.3242C>T		.	.	.	.	.	.	.	.	.	.	G	14.23	2.473986	0.43942	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.67523	-0.27;-0.06;-0.08;-0.08;0.07	5.6	5.6	0.85130	Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.75162	0.3812	L	0.29908	0.895	0.41576	D	0.98871	D;D;D;D;D	0.89917	0.996;0.996;0.996;0.996;1.0	P;P;P;P;D	0.75020	0.627;0.627;0.627;0.627;0.985	T	0.77432	-0.2590	9	0.87932	D	0	.	19.9801	0.97322	0.0:0.0:1.0:0.0	.	1035;1035;1035;1081;1081	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	V	1081;1035;1035;1035;1035;1081	ENSP00000343764:A1081V;ENSP00000434586:A1035V;ENSP00000340554:A1035V;ENSP00000352154:A1035V;ENSP00000354117:A1081V	ENSP00000340554:A1035V	A	-	2	0	TTN	179355322	1.000000	0.71417	0.484000	0.27391	0.211000	0.24417	6.581000	0.74045	2.808000	0.96608	0.650000	0.86243	GCG		0.502	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
MARS2	92935	broad.mit.edu	37	2	198570303	198570303	+	Silent	SNP	G	G	A	rs561069350		TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr2:198570303G>A	ENST00000282276.6	+	1	217	c.174G>A	c.(172-174)ccG>ccA	p.P58P	AC011997.1_ENST00000409845.1_Intron	NM_138395.3	NP_612404.1	Q96GW9	SYMM_HUMAN	methionyl-tRNA synthetase 2, mitochondrial	58					cell death (GO:0008219)|gene expression (GO:0010467)|methionyl-tRNA aminoacylation (GO:0006431)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|methionine-tRNA ligase activity (GO:0004825)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	22					L-Methionine(DB00134)	ACGCGGCGCCGCACATCGGGC	0.642																																						uc002uuq.2																			0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(172-174)CCG>CCA		methionine-tRNA synthetase 2 precursor	L-Methionine(DB00134)						26.0	26.0	26.0					2																	198570303		2203	4300	6503	SO:0001819	synonymous_variant	92935				methionyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|methionine-tRNA ligase activity	g.chr2:198570303G>A	BC009115	CCDS33358.1	2q33.1	2014-01-30	2007-02-26		ENSG00000247626	ENSG00000247626	6.1.1.10	"""Aminoacyl tRNA synthetases / Class I"""	25133	protein-coding gene	gene with protein product	"""methionine tRNA ligase 2, mitochondrial"""	609728				15274629	Standard	NM_138395		Approved	mtMetRS, SPAX3	uc002uuq.3	Q96GW9	OTTHUMG00000154487	ENST00000282276.6:c.174G>A	2.37:g.198570303G>A						uc002uup.2_Intron	p.P58P	NM_138395	NP_612404	Q96GW9	SYMM_HUMAN			1	217	+			58			HIGH region.		A0AVC3|Q76E79|Q8IW62|Q8N7N4	Silent	SNP	ENST00000282276.6	37	c.174G>A	CCDS33358.1																																																																																				0.642	MARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335477.1	NM_138395	
HDLBP	3069	broad.mit.edu	37	2	242202197	242202197	+	Missense_Mutation	SNP	T	T	C			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr2:242202197T>C	ENST00000391975.1	-	5	606	c.379A>G	c.(379-381)Atc>Gtc	p.I127V	HDLBP_ENST00000310931.4_Missense_Mutation_p.I127V|HDLBP_ENST00000391976.2_Missense_Mutation_p.I127V|HDLBP_ENST00000427183.2_Missense_Mutation_p.I163V	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	127					cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)	cytoplasm (GO:0005737)|high-density lipoprotein particle (GO:0034364)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		GACACCATGATGGAGAGGCCT	0.512																																						uc002waz.2																			0				breast(3)|skin(1)	4						c.(379-381)ATC>GTC		high density lipoprotein binding protein							205.0	175.0	185.0					2																	242202197		2203	4300	6503	SO:0001583	missense	3069				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding	g.chr2:242202197T>C		CCDS2547.1, CCDS58760.1	2q37.3	2008-07-18	2008-07-18		ENSG00000115677	ENSG00000115677			4857	protein-coding gene	gene with protein product		142695	"""vigilin"""	VGL		1318310, 8390966	Standard	NM_005336		Approved	HBP	uc002waz.3	Q00341	OTTHUMG00000133391	ENST00000391975.1:c.379A>G	2.37:g.242202197T>C	ENSP00000375836:p.Ile127Val					HDLBP_uc002wba.2_Missense_Mutation_p.I127V|HDLBP_uc002wbb.2_Missense_Mutation_p.I148V|HDLBP_uc010fzn.1_Intron|uc010zoo.1_5'Flank	p.I127V	NM_203346	NP_976221	Q00341	VIGLN_HUMAN		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)	5	607	-		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	127					B4DTQ2|E7EM71|Q53QU2|Q9UCY3	Missense_Mutation	SNP	ENST00000391975.1	37	c.379A>G	CCDS2547.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.06|16.06	3.015192|3.015192	0.54468|0.54468	.|.	.|.	ENSG00000115677|ENSG00000115677	ENST00000373292|ENST00000391975;ENST00000391976;ENST00000310931;ENST00000427183;ENST00000422933;ENST00000428482;ENST00000452065;ENST00000444092;ENST00000430918	.|T;T;T;T;T;T;T;T;T	.|0.60171	.|2.11;2.11;2.11;2.01;1.33;0.76;0.21;0.75;0.75	5.93|5.93	5.93|5.93	0.95920|0.95920	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.49745|0.49745	0.1575|0.1575	L|L	0.45470|0.45470	1.425|1.425	0.80722|0.80722	D|D	1|1	.|B;P	.|0.40515	.|0.057;0.719	.|B;B	.|0.37091	.|0.074;0.241	T|T	0.46428|0.46428	-0.9192|-0.9192	5|10	.|0.14656	.|T	.|0.56	-25.2698|-25.2698	16.3943|16.3943	0.83563|0.83563	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|163;127	.|E7EM71;Q00341	.|.;VIGLN_HUMAN	R|V	4|127;127;127;163;127;127;127;127;127	.|ENSP00000375836:I127V;ENSP00000375837:I127V;ENSP00000312042:I127V;ENSP00000399139:I163V;ENSP00000403807:I127V;ENSP00000405109:I127V;ENSP00000387782:I127V;ENSP00000416559:I127V;ENSP00000403913:I127V	.|ENSP00000312042:I127V	H|I	-|-	2|1	0|0	HDLBP|HDLBP	241850870|241850870	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	7.975000|7.975000	0.88055|0.88055	2.281000|2.281000	0.76405|0.76405	0.533000|0.533000	0.62120|0.62120	CAT|ATC		0.512	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257245.5	NM_203346	
HM13	81502	broad.mit.edu	37	20	30136902	30136902	+	Missense_Mutation	SNP	G	G	T			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr20:30136902G>T	ENST00000340852.5	+	5	649	c.525G>T	c.(523-525)tgG>tgT	p.W175C	HM13_ENST00000335574.5_Missense_Mutation_p.W175C|HM13_ENST00000398174.3_Missense_Mutation_p.W175C|HM13_ENST00000376127.3_Missense_Mutation_p.W175C|HM13_ENST00000492709.1_3'UTR	NM_030789.2	NP_110416.1	Q8TCT9	HM13_HUMAN	histocompatibility (minor) 13	175					membrane protein proteolysis (GO:0033619)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	aspartic endopeptidase activity, intramembrane cleaving (GO:0042500)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(5;3.44e-05)|Lung NSC(7;4.38e-06)|all_lung(7;7.65e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		all cancers(5;0.000479)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)			TTGGCGTCTGGTACCTGCTGA	0.577																																						uc002wwe.2																			0				breast(1)	1						c.(523-525)TGG>TGT		minor histocompatibility antigen 13 isoform 1							233.0	223.0	226.0					20																	30136902		2203	4300	6503	SO:0001583	missense	81502				membrane protein proteolysis	cell surface|endoplasmic reticulum membrane|integral to membrane|plasma membrane	aspartic-type endopeptidase activity|protein binding	g.chr20:30136902G>T	AL110115	CCDS13182.1, CCDS13183.1, CCDS42861.1	20q11.21	2012-02-21			ENSG00000101294	ENSG00000101294			16435	protein-coding gene	gene with protein product	"""signal peptide peptidase beta"", ""presenilin-like protein 3"", ""intramembrane protease"", ""signal peptide peptidase like 1"""	607106				12077416, 14704149	Standard	NM_030789		Approved	H13, dJ324O17.1, SPP, PSL3, IMP1, IMPAS, PSENL3, SPPL1	uc002wwc.3	Q8TCT9	OTTHUMG00000032175	ENST00000340852.5:c.525G>T	20.37:g.30136902G>T	ENSP00000343032:p.Trp175Cys					HM13_uc002wwc.2_Missense_Mutation_p.W175C|HM13_uc002wwd.2_Missense_Mutation_p.W175C|HM13_uc002wwf.2_Missense_Mutation_p.W51C|HM13_uc010gdu.2_Missense_Mutation_p.W51C	p.W175C	NM_030789	NP_110416	Q8TCT9	HM13_HUMAN	all cancers(5;0.000479)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)		5	639	+	all_cancers(5;3.44e-05)|Lung NSC(7;4.38e-06)|all_lung(7;7.65e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		175			Cytoplasmic (Potential).		B2RAY5|E1P5L3|Q15K36|Q540H8|Q5JWP2|Q5JWP3|Q5JWP4|Q5JWP5|Q7Z4F2|Q86Y35|Q95H87|Q9H110|Q9H111	Missense_Mutation	SNP	ENST00000340852.5	37	c.525G>T	CCDS13182.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.047265	0.75846	.	.	ENSG00000101294	ENST00000335574;ENST00000340852;ENST00000398174;ENST00000376127;ENST00000344042	T;T;T;T;T	0.17370	2.28;2.28;2.28;2.28;2.28	5.13	5.13	0.70059	.	0.064358	0.64402	D	0.000002	T	0.43010	0.1228	M	0.90309	3.105	0.80722	D	1	P;P;B	0.48834	0.865;0.916;0.251	P;P;B	0.54431	0.752;0.708;0.159	T	0.48055	-0.9068	10	0.48119	T	0.1	-3.821	15.8945	0.79325	0.0:0.0:1.0:0.0	.	175;175;175	Q8TCT9;Q8TCT9-4;Q8TCT9-2	HM13_HUMAN;.;.	C	175	ENSP00000335294:W175C;ENSP00000343032:W175C;ENSP00000381237:W175C;ENSP00000365296:W175C;ENSP00000341347:W175C	ENSP00000335294:W175C	W	+	3	0	HM13	29600563	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.242000	0.95408	2.655000	0.90218	0.655000	0.94253	TGG		0.577	HM13-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078527.2	NM_178580	
HUNK	30811	broad.mit.edu	37	21	33296873	33296873	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr21:33296873C>T	ENST00000270112.2	+	2	715	c.355C>T	c.(355-357)Cgc>Tgc	p.R119C		NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN	hormonally up-regulated Neu-associated kinase	119	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						GCAGATGATCCGCCACCCCAA	0.488																																						uc002yph.2																			0				stomach(1)|skin(1)	2						c.(355-357)CGC>TGC		hormonally upregulated Neu-associated kinase							65.0	60.0	62.0					21																	33296873		2203	4300	6503	SO:0001583	missense	30811				multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity	g.chr21:33296873C>T	AJ271722	CCDS13610.1	21q22.1	2008-06-05	2008-06-05		ENSG00000142149	ENSG00000142149			13326	protein-coding gene	gene with protein product		606532	"""hormonally upregulated Neu-associated kinase"""			10662544, 10830953	Standard	NM_014586		Approved		uc002yph.3	P57058	OTTHUMG00000085019	ENST00000270112.2:c.355C>T	21.37:g.33296873C>T	ENSP00000270112:p.Arg119Cys						p.R119C	NM_014586	NP_055401	P57058	HUNK_HUMAN			2	715	+			119			Protein kinase.			Missense_Mutation	SNP	ENST00000270112.2	37	c.355C>T	CCDS13610.1	.	.	.	.	.	.	.	.	.	.	C	19.85	3.903000	0.72754	.	.	ENSG00000142149	ENST00000270112;ENST00000430354	T;T	0.26810	1.71;1.71	4.86	4.86	0.63082	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.127960	0.50627	D	0.000112	T	0.50171	0.1600	M	0.75264	2.295	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.52563	-0.8559	10	0.72032	D	0.01	-16.3898	13.198	0.59749	0.1591:0.8409:0.0:0.0	.	119	P57058	HUNK_HUMAN	C	119;4	ENSP00000270112:R119C;ENSP00000411860:R4C	ENSP00000270112:R119C	R	+	1	0	HUNK	32218744	1.000000	0.71417	0.998000	0.56505	0.756000	0.42949	4.247000	0.58750	2.513000	0.84729	0.650000	0.86243	CGC		0.488	HUNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192782.1	NM_014586	
LZTR1	8216	broad.mit.edu	37	22	21344765	21344765	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr22:21344765G>A	ENST00000215739.8	+	8	1101	c.742G>A	c.(742-744)Gga>Aga	p.G248R	LZTR1_ENST00000479606.1_3'UTR|LZTR1_ENST00000389355.3_Missense_Mutation_p.G229R	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	248					anatomical structure morphogenesis (GO:0009653)|regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G248R(1)		breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			TGGGCAAAGCGGAGCCAAAAT	0.562																																						uc002zto.2																			1	Substitution - Missense(1)		large_intestine(1)	ovary(2)|lung(2)	4						c.(742-744)GGA>AGA		leucine-zipper-like transcription regulator 1							107.0	101.0	103.0					22																	21344765		2203	4300	6503	SO:0001583	missense	8216				anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity	g.chr22:21344765G>A	D38496	CCDS33606.1	22q11.21	2013-01-09	2004-12-10		ENSG00000099949	ENSG00000099949		"""BTB/POZ domain containing"""	6742	protein-coding gene	gene with protein product		600574	"""leucine-zipper-like transcriptional regulator 1"""			7633402, 16356934	Standard	NM_006767		Approved	LZTR-1, BTBD29	uc002zto.3	Q8N653	OTTHUMG00000150878	ENST00000215739.8:c.742G>A	22.37:g.21344765G>A	ENSP00000215739:p.Gly248Arg					LZTR1_uc002ztn.2_Missense_Mutation_p.G207R|LZTR1_uc011ahy.1_Missense_Mutation_p.G229R|LZTR1_uc010gsr.1_Missense_Mutation_p.G119R	p.G248R	NM_006767	NP_006758	Q8N653	LZTR1_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		8	845	+	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	248			Kelch 4.		Q14776|Q20WK0	Missense_Mutation	SNP	ENST00000215739.8	37	c.742G>A	CCDS33606.1	.	.	.	.	.	.	.	.	.	.	G	33	5.252102	0.95336	.	.	ENSG00000099949	ENST00000539817;ENST00000215739;ENST00000389355	T;T	0.70869	-0.52;-0.52	5.6	5.6	0.85130	Kelch-type beta propeller (1);	0.051728	0.85682	D	0.000000	D	0.85075	0.5614	M	0.81942	2.565	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.83275	0.989;0.996;0.966;0.954	D	0.86723	0.1943	10	0.87932	D	0	-16.5654	17.1017	0.86652	0.0:0.0:1.0:0.0	.	229;207;248;207	B7Z3T9;Q6ZSY0;Q8N653;F5GXU8	.;.;LZTR1_HUMAN;.	R	207;248;229	ENSP00000215739:G248R;ENSP00000374006:G229R	ENSP00000215739:G248R	G	+	1	0	LZTR1	19674765	1.000000	0.71417	0.988000	0.46212	0.924000	0.55760	9.785000	0.99042	2.632000	0.89209	0.655000	0.94253	GGA		0.562	LZTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320387.1	NM_006767	
DEPDC5	9681	broad.mit.edu	37	22	32198714	32198715	+	Frame_Shift_Ins	INS	-	-	C			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr22:32198714_32198715insC	ENST00000382112.3	+	14	1041_1042	c.971_972insC	c.(970-975)cgcaacfs	p.N325fs	DEPDC5_ENST00000400246.1_Frame_Shift_Ins_p.N325fs|DEPDC5_ENST00000400249.2_Frame_Shift_Ins_p.N325fs|DEPDC5_ENST00000266091.3_Frame_Shift_Ins_p.N325fs|DEPDC5_ENST00000535622.1_Frame_Shift_Ins_p.N325fs|DEPDC5_ENST00000382105.2_Frame_Shift_Ins_p.N325fs|DEPDC5_ENST00000536766.1_Frame_Shift_Ins_p.N297fs|DEPDC5_ENST00000400248.2_Frame_Shift_Ins_p.N325fs|DEPDC5_ENST00000400242.3_Frame_Shift_Ins_p.N325fs|DEPDC5_ENST00000382111.2_Frame_Shift_Ins_p.N325fs	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	325					intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TACATCAACCGCAACTTTGACC	0.46																																						uc003als.2																			0				ovary(4)|central_nervous_system(3)|pancreas(1)	8						c.(970-972)CGCfs		DEP domain containing 5 isoform 1																																				SO:0001589	frameshift_variant	9681				intracellular signal transduction			g.chr22:32198714_32198715insC	AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.972dupC	22.37:g.32198715_32198715dupC	ENSP00000371546:p.Asn325fs					DEPDC5_uc011als.1_Frame_Shift_Ins_p.R324fs|DEPDC5_uc011alu.1_Frame_Shift_Ins_p.R324fs|DEPDC5_uc011alv.1_RNA|DEPDC5_uc003alt.2_Frame_Shift_Ins_p.R324fs|DEPDC5_uc003alr.1_Frame_Shift_Ins_p.R324fs|DEPDC5_uc011alt.1_Frame_Shift_Ins_p.R296fs	p.R324fs	NM_014662	NP_055477	O75140	DEPD5_HUMAN			15	1113_1114	+			324					A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Frame_Shift_Ins	INS	ENST00000382112.3	37	c.971_972insC	CCDS46692.1																																																																																				0.460	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129087.1	NM_014662	
SBF1	6305	broad.mit.edu	37	22	50895482	50895483	+	Intron	INS	-	-	GAGGCC			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr22:50895482_50895483insGAGGCC	ENST00000390679.3	-	29	4011				SBF1_ENST00000380817.3_In_Frame_Ins_p.1295_1295S>SAS|SBF1_ENST00000348911.6_Intron|SBF1_ENST00000476293.1_5'UTR			O95248	MTMR5_HUMAN	SET binding factor 1						cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		CGGTCCGTCTGGAGGCCGAGGC	0.678																																						uc003blh.2																			0					0						c.(3883-3885)TCC>TCGGCCTCC		SET binding factor 1																																				SO:0001627	intron_variant	6305				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity	g.chr22:50895482_50895483insGAGGCC	U93181	CCDS14091.1, CCDS14091.2	22q13.33	2013-01-10			ENSG00000100241	ENSG00000100241		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	10542	protein-coding gene	gene with protein product	"""myotubularin related 5"", ""DENN/MADD domain containing 7A"""	603560				9537414, 9736772	Standard	NM_002972		Approved	MTMR5, DENND7A	uc003blh.3	O95248	OTTHUMG00000150204	ENST00000390679.3:c.3827-380->GGCCTC	22.37:g.50895483_50895488dupGAGGCC						SBF1_uc003ble.2_5'Flank|SBF1_uc003blf.2_5'Flank|SBF1_uc011arx.1_Intron	p.1295_1295S>SAS	NM_002972	NP_002963	O95248	MTMR5_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	29	4079_4080	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	In_Frame_Ins	INS	ENST00000390679.3	37	c.3884_3885insGGCCTC																																																																																					0.678	SBF1-201	KNOWN	basic	protein_coding	protein_coding			
SLC6A20	54716	broad.mit.edu	37	3	45800488	45800488	+	Silent	SNP	G	G	A			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr3:45800488G>A	ENST00000358525.4	-	11	1876	c.1761C>T	c.(1759-1761)gaC>gaT	p.D587D	SLC6A20_ENST00000353278.4_Silent_p.D550D|SLC6A20_ENST00000456124.2_Intron|SLC6A20_ENST00000493980.1_5'Flank	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN	solute carrier family 6 (proline IMINO transporter), member 20	587					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|glycine transport (GO:0015816)|ion transport (GO:0006811)|proline transport (GO:0015824)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		CGGGGTCTGCGTCTCCCCTCT	0.577																																						uc011bai.1																			0				ovary(2)	2						c.(1759-1761)GAC>GAT		solute carrier family 6, member 20 isoform 1							35.0	40.0	38.0					3																	45800488		2203	4300	6503	SO:0001819	synonymous_variant	54716				cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr3:45800488G>A	AF075260	CCDS2730.1, CCDS43077.1	3p21.6	2013-05-22			ENSG00000163817	ENSG00000163817		"""Solute carriers"""	30927	protein-coding gene	gene with protein product		605616				9932288, 11352561	Standard	NM_022405		Approved	XT3, Xtrp3	uc011bai.2	Q9NP91	OTTHUMG00000133446	ENST00000358525.4:c.1761C>T	3.37:g.45800488G>A						SLC6A20_uc003cow.2_Silent_p.D237D|SLC6A20_uc011baj.1_Silent_p.D550D	p.D587D	NM_020208	NP_064593	Q9NP91	S6A20_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)	11	1885	-			587			Cytoplasmic (Potential).		A1A4F2|O75590|Q8TF10|Q9NPQ2|Q9NQ77	Silent	SNP	ENST00000358525.4	37	c.1761C>T	CCDS43077.1																																																																																				0.577	SLC6A20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257318.3	NM_020208	
NISCH	11188	broad.mit.edu	37	3	52525480	52525480	+	Silent	SNP	G	G	A			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr3:52525480G>A	ENST00000479054.1	+	21	3927	c.3855G>A	c.(3853-3855)ccG>ccA	p.P1285P	NISCH_ENST00000345716.4_Silent_p.P1285P			Q9Y2I1	NISCH_HUMAN	nischarin	1285					actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|glucose metabolic process (GO:0006006)|negative regulation of cell migration (GO:0030336)|norepinephrine secretion (GO:0048243)|Rac protein signal transduction (GO:0016601)|regulation of blood pressure (GO:0008217)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein coupled amine receptor activity (GO:0008227)|identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	Tizanidine(DB00697)	CGCCCTCGCCGGAGCCTGTTG	0.602																																						uc011beg.1																			0				ovary(3)|central_nervous_system(1)	4						c.(3853-3855)CCG>CCA		nischarin							69.0	57.0	61.0					3																	52525480		2203	4300	6503	SO:0001819	synonymous_variant	11188				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity	g.chr3:52525480G>A	AF082516	CCDS33767.1, CCDS63651.1, CCDS63652.1	3p21.1	2008-07-18			ENSG00000010322	ENSG00000010322			18006	protein-coding gene	gene with protein product	"""imidazoline receptor candidate"", ""I-1 receptor candidate protein"", ""imidazoline receptor antisera selected"""	615507				11912194, 10882231	Standard	NM_007184		Approved	KIAA0975, I-1, IRAS	uc003ded.4	Q9Y2I1	OTTHUMG00000158571	ENST00000479054.1:c.3855G>A	3.37:g.52525480G>A						NISCH_uc003ded.3_Silent_p.P1285P|NISCH_uc003dee.3_Silent_p.P774P|NISCH_uc003deg.1_RNA|NISCH_uc003deh.3_Silent_p.P34P	p.P1285P	NM_007184	NP_009115	Q9Y2I1	NISCH_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	21	3927	+			1285					C9J245|Q6PGP3|Q6PIB4|Q7L8M3|Q7Z2X6|Q9UES6|Q9UEU4|Q9UFW3	Silent	SNP	ENST00000479054.1	37	c.3855G>A	CCDS33767.1																																																																																				0.602	NISCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351357.1	NM_007184	
IL17RD	54756	broad.mit.edu	37	3	57132318	57132318	+	Silent	SNP	C	C	T			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr3:57132318C>T	ENST00000296318.7	-	12	1501	c.1413G>A	c.(1411-1413)gcG>gcA	p.A471A	IL17RD_ENST00000320057.5_Silent_p.A327A|IL17RD_ENST00000427856.2_Silent_p.A447A|IL17RD_ENST00000463523.1_Silent_p.A327A	NM_017563.3	NP_060033.3	Q8NFM7	I17RD_HUMAN	interleukin 17 receptor D	471	SEFIR. {ECO:0000255|PROSITE- ProRule:PRU00867}.				signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.A471A(1)|p.A327A(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)	16				KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)		ACTTGCTGAGCGCCGCGGACG	0.572																																						uc003dil.2																			2	Substitution - coding silent(2)		endometrium(2)		0						c.(1411-1413)GCG>GCA		interleukin 17 receptor D precursor							48.0	47.0	47.0					3																	57132318		2203	4300	6503	SO:0001819	synonymous_variant	54756					Golgi membrane|integral to membrane|plasma membrane	receptor activity	g.chr3:57132318C>T	AF494208	CCDS2880.2	3p21.1	2008-02-05			ENSG00000144730	ENSG00000144730		"""Interleukins and interleukin receptors"""	17616	protein-coding gene	gene with protein product		606807				11802164, 12604616	Standard	NM_017563		Approved	SEF, IL17RLM, FLJ35755, IL-17RD	uc003dil.3	Q8NFM7	OTTHUMG00000150171	ENST00000296318.7:c.1413G>A	3.37:g.57132318C>T						IL17RD_uc003dik.2_Silent_p.A447A|IL17RD_uc010hna.2_Silent_p.A327A|IL17RD_uc011bex.1_Silent_p.A327A	p.A471A	NM_017563	NP_060033	Q8NFM7	I17RD_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)	12	1502	-			471			SEFIR.|Cytoplasmic (Potential).		Q2NKP7|Q58EZ7|Q6RVF4|Q6UWI5|Q8N113|Q8NFS0|Q9UFA0	Silent	SNP	ENST00000296318.7	37	c.1413G>A	CCDS2880.2																																																																																				0.572	IL17RD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316680.1	NM_017563	
CD86	942	broad.mit.edu	37	3	121828238	121828238	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr3:121828238G>A	ENST00000330540.2	+	5	946	c.830G>A	c.(829-831)cGc>cAc	p.R277H	CD86_ENST00000493101.1_Missense_Mutation_p.R165H|CD86_ENST00000469710.1_Missense_Mutation_p.R195H|CD86_ENST00000264468.5_Missense_Mutation_p.R64H|CD86_ENST00000393627.2_Missense_Mutation_p.R271H	NM_175862.4	NP_787058	P42081	CD86_HUMAN	CD86 molecule	277					aging (GO:0007568)|B cell activation (GO:0042113)|cell-cell signaling (GO:0007267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to metal ion (GO:0071248)|defense response to virus (GO:0051607)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|immune response (GO:0006955)|innate immune response (GO:0045087)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of T cell anergy (GO:0002668)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 biosynthetic process (GO:0045404)|positive regulation of lymphotoxin A biosynthetic process (GO:0043017)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|response to interferon-gamma (GO:0034341)|response to yeast (GO:0001878)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell proliferation involved in immune response (GO:0002309)|toll-like receptor signaling pathway (GO:0002224)|viral process (GO:0016032)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)|receptor activity (GO:0004872)			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)|Antithymocyte globulin(DB00098)|Belatacept(DB06681)	AAGCGGCCTCGCAACTCTTAT	0.468																																					GBM(67;1379 1389 36064 39806)	uc003eet.2																			0				pancreas(1)|skin(1)	2						c.(829-831)CGC>CAC		CD86 antigen isoform 1	Abatacept(DB01281)						136.0	138.0	138.0					3																	121828238		2203	4300	6503	SO:0001583	missense	942				interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation		coreceptor activity|protein binding	g.chr3:121828238G>A		CCDS3009.1, CCDS43138.1, CCDS56272.1, CCDS56273.1, CCDS74991.1	3q21	2013-01-29	2006-03-28		ENSG00000114013	ENSG00000114013		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1705	protein-coding gene	gene with protein product	"""B-lymphocyte antigen B7-2"""	601020	"""CD86 antigen (CD28 antigen ligand 2, B7-2 antigen)"""	CD28LG2		7513726	Standard	NM_006889		Approved	B7.2, B7-2	uc003eet.3	P42081	OTTHUMG00000159482	ENST00000330540.2:c.830G>A	3.37:g.121828238G>A	ENSP00000332049:p.Arg277His					CD86_uc011bjo.1_Missense_Mutation_p.R195H|CD86_uc011bjp.1_Missense_Mutation_p.R165H|CD86_uc003eeu.2_Missense_Mutation_p.R271H	p.R277H	NM_175862	NP_787058	P42081	CD86_HUMAN		GBM - Glioblastoma multiforme(114;0.156)	5	946	+			277			Cytoplasmic (Potential).		A0N0P0|B7Z2F3|B7Z702|E7ETN5|E9PC27|Q13655|Q6FHB1|Q6GTS4|Q7M4L5	Missense_Mutation	SNP	ENST00000330540.2	37	c.830G>A	CCDS3009.1	.	.	.	.	.	.	.	.	.	.	G	10.52	1.374053	0.24857	.	.	ENSG00000114013	ENST00000469710;ENST00000493101;ENST00000330540;ENST00000264468;ENST00000393627	T;T;T;T;T	0.34472	3.34;2.45;4.45;1.36;4.45	4.45	0.0514	0.14297	.	1.007670	0.07973	N	0.984322	T	0.14527	0.0351	N	0.08118	0	0.09310	N	1	P;D	0.54207	0.841;0.965	B;B	0.38156	0.254;0.266	T	0.10989	-1.0606	10	0.56958	D	0.05	9.0E-4	1.4024	0.02273	0.1258:0.1795:0.3578:0.3368	.	165;277	E9PC27;P42081	.;CD86_HUMAN	H	195;165;277;64;271	ENSP00000418988:R195H;ENSP00000420230:R165H;ENSP00000332049:R277H;ENSP00000264468:R64H;ENSP00000377248:R271H	ENSP00000264468:R64H	R	+	2	0	CD86	123310928	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.135000	0.10420	0.008000	0.14787	0.561000	0.74099	CGC		0.468	CD86-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000355671.1	NM_006889	
PIK3CA	5290	broad.mit.edu	37	3	178916728	178916728	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr3:178916728G>A	ENST00000263967.3	+	2	272	c.115G>A	c.(115-117)Gag>Aag	p.E39K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	39	PI3K-ABD. {ECO:0000255|PROSITE- ProRule:PRU00877}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E39K(3)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	ATGCCTCCGTGAGGCTACATT	0.388		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.2		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			colorectal|gastric|gliobastoma|breast		3	Substitution - Missense(3)	p.E39K(1)	endometrium(2)|ovary(1)	breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553						c.(115-117)GAG>AAG		phosphoinositide-3-kinase, catalytic, alpha							77.0	75.0	75.0					3																	178916728		1839	4082	5921	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178916728G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.115G>A	3.37:g.178916728G>A	ENSP00000263967:p.Glu39Lys	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E39K	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		2	272	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		39			PI3K-ABD.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.115G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.275844	0.80580	.	.	ENSG00000121879	ENST00000263967;ENST00000468036	T;T	0.74209	-0.82;-0.82	5.44	5.44	0.79542	Phosphatidylinositol 3-kinase, p85-binding (2);	0.000000	0.85682	D	0.000000	T	0.72236	0.3435	L	0.46157	1.445	0.80722	D	1	P	0.40282	0.711	B	0.41374	0.355	T	0.70439	-0.4871	9	.	.	.	-14.4481	19.2635	0.93977	0.0:0.0:1.0:0.0	.	39	P42336	PK3CA_HUMAN	K	39	ENSP00000263967:E39K;ENSP00000417479:E39K	.	E	+	1	0	PIK3CA	180399422	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.409000	0.97331	2.547000	0.85894	0.555000	0.69702	GAG		0.388	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2		
SLC4A4	8671	broad.mit.edu	37	4	72399971	72399971	+	Missense_Mutation	SNP	G	G	A	rs150967020		TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr4:72399971G>A	ENST00000264485.5	+	18	2425	c.2308G>A	c.(2308-2310)Gtt>Att	p.V770I	SLC4A4_ENST00000351898.6_Missense_Mutation_p.V770I|SLC4A4_ENST00000425175.1_Missense_Mutation_p.V770I|SLC4A4_ENST00000340595.3_Missense_Mutation_p.V726I	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	770	Interaction with CA4.				bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)	p.V770I(2)|p.V726I(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	AGGTTGGTTCGTTCCACCGTT	0.423																																						uc003hfy.2																			4	Substitution - Missense(4)		urinary_tract(2)|endometrium(2)	ovary(3)|kidney(1)|skin(1)	5						c.(2308-2310)GTT>ATT		solute carrier family 4, sodium bicarbonate							77.0	74.0	75.0					4																	72399971		2203	4300	6503	SO:0001583	missense	8671					basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr4:72399971G>A	AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"""Solute carriers"""	11030	protein-coding gene	gene with protein product		603345	"""solute carrier family 4, sodium bicarbonate cotransporter, member 4"""	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.2308G>A	4.37:g.72399971G>A	ENSP00000264485:p.Val770Ile					SLC4A4_uc010iic.2_Missense_Mutation_p.V770I|SLC4A4_uc010iib.2_Missense_Mutation_p.V770I|SLC4A4_uc003hfz.2_Missense_Mutation_p.V770I|SLC4A4_uc003hgc.3_Missense_Mutation_p.V726I|SLC4A4_uc010iid.2_5'UTR	p.V770I	NM_001098484	NP_001091954	Q9Y6R1	S4A4_HUMAN	Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		18	2425	+			770			Interaction with CA4.|Extracellular (Potential).		C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Missense_Mutation	SNP	ENST00000264485.5	37	c.2308G>A	CCDS43236.1	.	.	.	.	.	.	.	.	.	.	G	8.256	0.810144	0.16537	.	.	ENSG00000080493	ENST00000264485;ENST00000425175;ENST00000351898;ENST00000340595	T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0	5.69	3.06	0.35304	Bicarbonate transporter, C-terminal (1);	0.162294	0.53938	N	0.000048	T	0.55033	0.1895	N	0.17838	0.53	0.52501	D	0.999959	B;P;B;B	0.35774	0.124;0.519;0.208;0.083	B;B;B;B	0.39152	0.104;0.292;0.102;0.104	T	0.51585	-0.8687	10	0.02654	T	1	.	9.5576	0.39348	0.2978:0.0:0.7022:0.0	.	770;770;726;770	A5JJ20;Q9Y6R1-4;Q9Y6R1-2;Q9Y6R1	.;.;.;S4A4_HUMAN	I	770;770;770;726	ENSP00000264485:V770I;ENSP00000393557:V770I;ENSP00000307349:V770I;ENSP00000344272:V726I	ENSP00000264485:V770I	V	+	1	0	SLC4A4	72618835	1.000000	0.71417	0.907000	0.35723	0.953000	0.61014	3.753000	0.55180	0.348000	0.23949	0.650000	0.86243	GTT		0.423	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362090.1	NM_003759	
PPEF2	5470	broad.mit.edu	37	4	76797822	76797822	+	Missense_Mutation	SNP	A	A	G			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr4:76797822A>G	ENST00000286719.7	-	11	1294	c.938T>C	c.(937-939)gTt>gCt	p.V313A		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	313	Catalytic.				detection of stimulus involved in sensory perception (GO:0050906)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|protein dephosphorylation (GO:0006470)|regulation of JUN kinase activity (GO:0043506)|regulation of MAP kinase activity (GO:0043405)|visual perception (GO:0007601)	cilium (GO:0005929)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|Hsp70 protein binding (GO:0030544)|Hsp90 protein binding (GO:0051879)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			CATGGTGGAAACTATCTAAAC	0.502																																					NSCLC(105;1359 1603 15961 44567 47947)	uc003hix.2																			0				ovary(2)|lung(1)|central_nervous_system(1)	4						c.(937-939)GTT>GCT		serine/threonine protein phosphatase with							81.0	83.0	82.0					4																	76797822		2203	4300	6503	SO:0001583	missense	5470				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity	g.chr4:76797822A>G	AF023456	CCDS34013.1	4q21.1	2013-01-10			ENSG00000156194	ENSG00000156194		"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"", ""EF-hand domain containing"""	9244	protein-coding gene	gene with protein product	"""protein phosphatase 7, catalytic subunit, beta isozyme"""	602256				9326663, 12051765	Standard	NM_006239		Approved	PPP7CB	uc003hix.3	O14830	OTTHUMG00000160915	ENST00000286719.7:c.938T>C	4.37:g.76797822A>G	ENSP00000286719:p.Val313Ala					PPEF2_uc003hiy.2_RNA|PPEF2_uc003hiz.1_Missense_Mutation_p.V313A	p.V313A	NM_006239	NP_006230	O14830	PPE2_HUMAN	Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)		11	1295	-			313			Catalytic.		O14831	Missense_Mutation	SNP	ENST00000286719.7	37	c.938T>C	CCDS34013.1	.	.	.	.	.	.	.	.	.	.	A	0.308	-0.969809	0.02232	.	.	ENSG00000156194	ENST00000286719;ENST00000337500	T	0.05717	3.4	4.49	3.31	0.37934	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (1);Metallophosphoesterase domain (1);	11.178900	0.00166	N	0.000002	T	0.08935	0.0221	L	0.53249	1.67	0.33818	D	0.62869	B;B	0.24618	0.107;0.004	B;B	0.21917	0.037;0.012	T	0.37731	-0.9693	10	0.20519	T	0.43	-19.2346	5.8017	0.18417	0.7914:0.0:0.2086:0.0	.	313;313	O14830-2;O14830	.;PPE2_HUMAN	A	313	ENSP00000286719:V313A	ENSP00000286719:V313A	V	-	2	0	PPEF2	77016846	0.975000	0.34042	0.936000	0.37596	0.006000	0.05464	4.821000	0.62679	0.780000	0.33566	-0.415000	0.06103	GTT		0.502	PPEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362929.1	NM_006239	
MAPK10	5602	broad.mit.edu	37	4	87028499	87028499	+	Silent	SNP	C	C	T			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr4:87028499C>T	ENST00000359221.3	-	5	769	c.243G>A	c.(241-243)gcG>gcA	p.A81A	MAPK10_ENST00000395157.3_5'Flank|MAPK10_ENST00000449047.2_5'UTR|MAPK10_ENST00000395169.3_Silent_p.A43A|MAPK10_ENST00000395161.2_Silent_p.A81A|MAPK10_ENST00000361569.2_Silent_p.A81A|MAPK10_ENST00000395166.1_Silent_p.A43A|MAPK10_ENST00000513839.1_5'UTR|MAPK10_ENST00000395160.3_5'UTR			P53779	MK10_HUMAN	mitogen-activated protein kinase 10	81	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|JUN phosphorylation (GO:0007258)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|JUN kinase activity (GO:0004705)|MAP kinase kinase activity (GO:0004708)			breast(1)|central_nervous_system(1)|stomach(1)	3		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)		OV - Ovarian serous cystadenocarcinoma(123;0.002)		CAGCATCATACGCGGCACTGT	0.443																																						uc003hpq.2																			0				stomach(1)|breast(1)|central_nervous_system(1)	3						c.(241-243)GCG>GCA		mitogen-activated protein kinase 10 isoform 2							107.0	99.0	102.0					4																	87028499		2203	4300	6503	SO:0001819	synonymous_variant	5602				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|MAP kinase kinase activity|protein binding	g.chr4:87028499C>T	U07620	CCDS3612.1, CCDS3613.1, CCDS34026.1, CCDS43247.1	4q22-q23	2011-06-09			ENSG00000109339	ENSG00000109339	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6872	protein-coding gene	gene with protein product		602897		PRKM10		8654373, 12436199	Standard	NM_002753		Approved	JNK3, p493F12, p54bSAPK	uc003hpt.3	P53779	OTTHUMG00000130604	ENST00000359221.3:c.243G>A	4.37:g.87028499C>T						MAPK10_uc010ikg.2_Silent_p.A43A|MAPK10_uc003hpr.2_Silent_p.A43A|MAPK10_uc003hps.2_Silent_p.A81A|MAPK10_uc003hpt.2_Silent_p.A81A|MAPK10_uc003hpu.2_Silent_p.A81A|MAPK10_uc003hpv.2_5'UTR|MAPK10_uc010ikh.1_RNA|MAPK10_uc003hpo.2_5'UTR|MAPK10_uc011ccw.1_5'UTR|MAPK10_uc003hpp.2_5'UTR	p.A81A	NM_138982	NP_620448	P53779	MK10_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.002)	4	310	-		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)	81			Protein kinase.		A6NFS3|A6NG28|B3KQ94|Q15707|Q49AP1	Silent	SNP	ENST00000359221.3	37	c.243G>A	CCDS34026.1																																																																																				0.443	MAPK10-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000361363.2		
BBS12	166379	broad.mit.edu	37	4	123665161	123665161	+	Missense_Mutation	SNP	C	C	T	rs372102223		TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr4:123665161C>T	ENST00000314218.3	+	2	2307	c.2114C>T	c.(2113-2115)aCg>aTg	p.T705M	BBS12_ENST00000542236.1_Missense_Mutation_p.T705M	NM_152618.2	NP_689831.2	Q6ZW61	BBS12_HUMAN	Bardet-Biedl syndrome 12	705					cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|eating behavior (GO:0042755)|intraciliary transport (GO:0042073)|negative regulation of fat cell differentiation (GO:0045599)|photoreceptor cell maintenance (GO:0045494)	cilium (GO:0005929)	ATP binding (GO:0005524)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						CAGGAATTAACGGGCTTTCTA	0.348									Bardet-Biedl syndrome																													uc003ieu.2																			0				ovary(2)	2						c.(2113-2115)ACG>ATG		Bardet-Biedl syndrome 12		C	MET/THR,MET/THR	1,4405		0,1,2202	69.0	75.0	73.0		2114,2114	0.1	0.0	4		73	2,8594		0,2,4296	no	missense,missense	BBS12	NM_001178007.1,NM_152618.2	81,81	0,3,6498	TT,TC,CC		0.0233,0.0227,0.0231	possibly-damaging,possibly-damaging	705/711,705/711	123665161	3,12999	2203	4298	6501	SO:0001583	missense	166379	Bardet-Biedl_syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	cellular protein metabolic process	cilium	ATP binding	g.chr4:123665161C>T	AK123553	CCDS3728.1	4q27	2014-06-17	2006-12-13	2006-12-13	ENSG00000181004	ENSG00000181004		"""Heat Shock Proteins / Chaperonins"""	26648	protein-coding gene	gene with protein product		610683	"""chromosome 4 open reading frame 24"""	C4orf24		17160889	Standard	NM_001178007		Approved	FLJ35630, FLJ41559	uc003ieu.3	Q6ZW61	OTTHUMG00000133070	ENST00000314218.3:c.2114C>T	4.37:g.123665161C>T	ENSP00000319062:p.Thr705Met						p.T705M	NM_152618	NP_689831	Q6ZW61	BBS12_HUMAN			2	2307	+			705					D3DNX5|Q7Z342|Q7Z482|Q8NAB8	Missense_Mutation	SNP	ENST00000314218.3	37	c.2114C>T	CCDS3728.1	.	.	.	.	.	.	.	.	.	.	C	6.606	0.480200	0.12581	2.27E-4	2.33E-4	ENSG00000181004	ENST00000314218;ENST00000542236	T;T	0.69926	-0.44;-0.44	5.63	0.104	0.14531	.	0.946420	0.08922	N	0.874251	T	0.35970	0.0950	N	0.08118	0	0.09310	N	1	P	0.40000	0.698	B	0.31547	0.132	T	0.32771	-0.9894	10	0.62326	D	0.03	-28.2915	1.6074	0.02687	0.4993:0.1397:0.2298:0.1313	.	705	Q6ZW61	BBS12_HUMAN	M	705	ENSP00000319062:T705M;ENSP00000438273:T705M	ENSP00000319062:T705M	T	+	2	0	BBS12	123884611	0.848000	0.29623	0.008000	0.14137	0.181000	0.23173	0.455000	0.21843	0.428000	0.26173	-0.266000	0.10368	ACG		0.348	BBS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256710.1	NM_152618	
PLK4	10733	broad.mit.edu	37	4	128807278	128807278	+	Silent	SNP	A	A	T			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr4:128807278A>T	ENST00000270861.5	+	5	1027	c.753A>T	c.(751-753)gcA>gcT	p.A251A	PLK4_ENST00000507249.1_Silent_p.A251A|PLK4_ENST00000513090.1_Silent_p.A219A|PLK4_ENST00000515069.1_Silent_p.A251A|PLK4_ENST00000514379.1_Silent_p.A210A	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN	polo-like kinase 4	251	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				centriole replication (GO:0007099)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of centriole replication (GO:0046601)|protein phosphorylation (GO:0006468)|trophoblast giant cell differentiation (GO:0060707)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						GAAATCCAGCAGATCGTTTAA	0.353																																					Colon(135;508 1718 19061 31832 42879)	uc003ifo.2																			0					0						c.(751-753)GCA>GCT		polo-like kinase 4							160.0	165.0	163.0					4																	128807278		2201	4300	6501	SO:0001819	synonymous_variant	10733				G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation	centriole|cleavage furrow|cytosol|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr4:128807278A>T	Y13115	CCDS3735.1, CCDS54803.1, CCDS54804.1	4q27-q28	2013-01-18	2010-06-24	2004-01-28	ENSG00000142731	ENSG00000142731			11397	protein-coding gene	gene with protein product		605031	"""serine/threonine kinase 18"", ""polo-like kinase 4 (Drosophila)"""	STK18			Standard	NM_014264		Approved	Sak	uc003ifo.3	O00444	OTTHUMG00000133301	ENST00000270861.5:c.753A>T	4.37:g.128807278A>T						PLK4_uc011cgs.1_Silent_p.A219A|PLK4_uc011cgt.1_Silent_p.A210A	p.A251A	NM_014264	NP_055079	O00444	PLK4_HUMAN			5	998	+			251			Protein kinase.		B2RAL0|B7Z837|B7Z8G7|Q8IYF0|Q96Q95|Q9UD84|Q9UDE2	Silent	SNP	ENST00000270861.5	37	c.753A>T	CCDS3735.1																																																																																				0.353	PLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257095.3		
NEK1	4750	broad.mit.edu	37	4	170398275	170398275	+	Splice_Site	DEL	T	T	-			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr4:170398275delT	ENST00000439128.2	-	24	2990	c.2350delA	c.(2350-2352)aga>ga	p.R784fs	NEK1_ENST00000512193.1_Splice_Site_p.R715fs|NEK1_ENST00000510533.1_Splice_Site_p.R740fs|NEK1_ENST00000507142.1_Splice_Site_p.R812fs|NEK1_ENST00000511633.1_Splice_Site_p.R768fs	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	784					cellular response to DNA damage stimulus (GO:0006974)|cilium assembly (GO:0042384)|mitotic nuclear division (GO:0007067)|response to ionizing radiation (GO:0010212)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		CTATACATACTTTCAGTTGTA	0.343																																						uc003isb.1																			0				lung(3)|ovary(2)|large_intestine(1)	6						c.(2350-2352)AGAfs		NIMA-related kinase 1							44.0	40.0	41.0					4																	170398275		1838	4085	5923	SO:0001630	splice_region_variant	4750				cell division|cilium assembly|mitosis	nucleus|pericentriolar material	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr4:170398275delT	AB067488	CCDS47162.1, CCDS56348.1, CCDS56349.1, CCDS56350.1, CCDS56351.1	4q32.3	2012-11-15	2012-11-15		ENSG00000137601	ENSG00000137601			7744	protein-coding gene	gene with protein product		604588	"""NIMA (never in mitosis gene a)-related kinase 1"""			1382974, 8274451	Standard	NM_012224		Approved	NY-REN-55, KIAA1901	uc003isd.2	Q96PY6	OTTHUMG00000160963	ENST00000439128.2:c.2350+1A>-	4.37:g.170398275delT						NEK1_uc003isc.1_Frame_Shift_Del_p.R740fs|NEK1_uc003isd.1_Frame_Shift_Del_p.R812fs|NEK1_uc003ise.1_Frame_Shift_Del_p.R768fs|NEK1_uc003isf.1_Frame_Shift_Del_p.R715fs	p.R784fs	NM_012224	NP_036356	Q96PY6	NEK1_HUMAN		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)	24	2842	-		Prostate(90;0.00601)|Renal(120;0.0183)	784					G5E9Z3|Q05DG5|Q14CB7|Q5H9T1|Q6PIB8|Q96SS2|Q9H6P7|Q9Y594	Frame_Shift_Del	DEL	ENST00000439128.2	37	c.2350delA	CCDS47162.1																																																																																				0.343	NEK1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000363157.3		Frame_Shift_Del
ADAMTS12	81792	broad.mit.edu	37	5	33549384	33549384	+	Silent	SNP	G	G	A			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr5:33549384G>A	ENST00000504830.1	-	21	4565	c.4230C>T	c.(4228-4230)ggC>ggT	p.G1410G	ADAMTS12_ENST00000352040.3_Silent_p.G1325G	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1410	TSP type-1 6. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GGGGAGGAATGCCGGCCAGGA	0.612										HNSCC(64;0.19)																												uc003jia.1																			0				ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						c.(4228-4230)GGC>GGT		ADAM metallopeptidase with thrombospondin type 1							71.0	74.0	73.0					5																	33549384		2203	4300	6503	SO:0001819	synonymous_variant	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33549384G>A	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.4230C>T	5.37:g.33549384G>A		HNSCC(64;0.19)				ADAMTS12_uc010iuq.1_Silent_p.G1325G	p.G1410G	NM_030955	NP_112217	P58397	ATS12_HUMAN			21	4393	-			1410			TSP type-1 6.		A2RRN9|A5D6V6|Q6UWL3	Silent	SNP	ENST00000504830.1	37	c.4230C>T	CCDS34140.1																																																																																				0.612	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955	
IL3	3562	broad.mit.edu	37	5	131396547	131396547	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr5:131396547C>T	ENST00000296870.2	+	1	326	c.148C>T	c.(148-150)Cct>Tct	p.P50S		NM_000588.3	NP_000579.2	P08700	IL3_HUMAN	interleukin 3	50					cell-cell signaling (GO:0007267)|embryonic hemopoiesis (GO:0035162)|immune response (GO:0006955)|nervous system development (GO:0007399)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	interleukin-3 receptor binding (GO:0005135)			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)	10		all_cancers(142;7.42e-12)|Lung NSC(810;4.25e-07)|all_lung(232;1.93e-06)|Prostate(281;0.00741)|Breast(839;0.0544)|Lung SC(612;0.122)|Ovarian(839;0.223)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	GBM - Glioblastoma multiforme(465;0.0161)|Lung(113;0.105)	Amlexanox(DB01025)	AAAGCAGCCACCTTTGCCTTT	0.522																																						uc003kwe.1																			0				ovary(2)|central_nervous_system(1)	3						c.(148-150)CCT>TCT		interleukin 3 precursor	Amlexanox(DB01025)						87.0	89.0	88.0					5																	131396547		2203	4300	6503	SO:0001583	missense	3562				cell-cell signaling|immune response|nervous system development|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of survival gene product expression|positive regulation of tyrosine phosphorylation of Stat5 protein	extracellular space	cytokine activity|growth factor activity|interleukin-3 receptor binding	g.chr5:131396547C>T	M14743	CCDS4149.1	5q23-q31	2014-04-04	2014-04-04		ENSG00000164399	ENSG00000164399		"""Interleukins and interleukin receptors"""	6011	protein-coding gene	gene with protein product	"""multilineage-colony-stimulating factor"", ""hematopoietic growth factor"", ""P-cell stimulating factor"", ""mast-cell growth factor"", ""colony-stimulating factor, multiple"""	147740	"""interleukin 3 (colony-stimulating factor, multiple)"""			3489530	Standard	NM_000588		Approved	IL-3, MULTI-CSF, MCGF, MGC79398, MGC79399	uc003kwe.1	P08700	OTTHUMG00000059640	ENST00000296870.2:c.148C>T	5.37:g.131396547C>T	ENSP00000296870:p.Pro50Ser						p.P50S	NM_000588	NP_000579	P08700	IL3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	GBM - Glioblastoma multiforme(465;0.0161)|Lung(113;0.105)	1	201	+		all_cancers(142;7.42e-12)|Lung NSC(810;4.25e-07)|all_lung(232;1.93e-06)|Prostate(281;0.00741)|Breast(839;0.0544)|Lung SC(612;0.122)|Ovarian(839;0.223)	50					Q6GS87	Missense_Mutation	SNP	ENST00000296870.2	37	c.148C>T	CCDS4149.1	.	.	.	.	.	.	.	.	.	.	C	10.86	1.469619	0.26423	.	.	ENSG00000164399	ENST00000296870	T	0.68903	-0.36	3.1	-6.21	0.02065	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	2.029340	0.02008	N	0.046769	T	0.57725	0.2073	L	0.58101	1.795	0.09310	N	1	B	0.26363	0.147	B	0.23150	0.044	T	0.44221	-0.9342	10	0.72032	D	0.01	0.0282	4.0624	0.09844	0.5531:0.1388:0.22:0.0882	.	50	P08700	IL3_HUMAN	S	50	ENSP00000296870:P50S	ENSP00000296870:P50S	P	+	1	0	IL3	131424446	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.927000	0.01561	-2.389000	0.00587	-0.894000	0.02916	CCT		0.522	IL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132639.1	NM_000588	
FAT2	2196	broad.mit.edu	37	5	150947262	150947262	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr5:150947262G>A	ENST00000261800.5	-	1	1243	c.1231C>T	c.(1231-1233)Cga>Tga	p.R411*		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	411	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AACCCAGTTCGAGCATTAAGT	0.532																																						uc003lue.3																			0				ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6						c.(1231-1233)CGA>TGA		FAT tumor suppressor 2 precursor							99.0	94.0	95.0					5																	150947262		2203	4300	6503	SO:0001587	stop_gained	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150947262G>A	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.1231C>T	5.37:g.150947262G>A	ENSP00000261800:p.Arg411*					GM2A_uc011dcs.1_Intron|FAT2_uc010jhx.1_Nonsense_Mutation_p.R411*	p.R411*	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		1	1244	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	411			Extracellular (Potential).|Cadherin 3.		O75091|Q9NSR7	Nonsense_Mutation	SNP	ENST00000261800.5	37	c.1231C>T	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	G	37	5.997902	0.97184	.	.	ENSG00000086570	ENST00000261800	.	.	.	5.59	5.59	0.84812	.	0.430470	0.22979	N	0.053331	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	.	9.6654	0.39981	0.0724:0.0:0.7873:0.1403	.	.	.	.	X	411	.	ENSP00000261800:R411X	R	-	1	2	FAT2	150927455	1.000000	0.71417	0.402000	0.26371	0.888000	0.51559	3.261000	0.51530	2.642000	0.89623	0.561000	0.74099	CGA		0.532	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447	
BRPF3	27154	broad.mit.edu	37	6	36185728	36185728	+	Silent	SNP	C	C	T			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr6:36185728C>T	ENST00000357641.6	+	9	3277	c.3024C>T	c.(3022-3024)agC>agT	p.S1008S	BRPF3_ENST00000339717.7_Silent_p.S738S|BRPF3_ENST00000534400.1_Silent_p.S1008S|BRPF3_ENST00000534694.1_Intron|BRPF3_ENST00000443324.2_Intron|BRPF3_ENST00000543502.1_Silent_p.S738S	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	1008					blood coagulation (GO:0007596)|histone H3 acetylation (GO:0043966)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	cytosol (GO:0005829)|extracellular region (GO:0005576)|MOZ/MORF histone acetyltransferase complex (GO:0070776)	zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						ACACCGAAAGCGGGTCTGACT	0.512																																						uc003olv.3																			0				ovary(1)|skin(1)	2						c.(3022-3024)AGC>AGT		bromodomain and PHD finger containing, 3							178.0	145.0	156.0					6																	36185728		2203	4300	6503	SO:0001819	synonymous_variant	27154				histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding	g.chr6:36185728C>T	AB033112	CCDS34437.1	6p21.31	2008-02-05			ENSG00000096070	ENSG00000096070			14256	protein-coding gene	gene with protein product						10574462	Standard	NM_015695		Approved	KIAA1286	uc003olv.4	Q9ULD4	OTTHUMG00000014589	ENST00000357641.6:c.3024C>T	6.37:g.36185728C>T						BRPF3_uc010jwb.2_Silent_p.S738S|BRPF3_uc011dtj.1_RNA|BRPF3_uc010jwc.2_RNA|BRPF3_uc011dtk.1_Intron|BRPF3_uc010jwd.2_5'UTR	p.S1008S	NM_015695	NP_056510	Q9ULD4	BRPF3_HUMAN			9	3248	+			1008					A6ND56|A6NJE2|B7ZLN5|E7EX85|Q17RB6|Q5R3K8	Silent	SNP	ENST00000357641.6	37	c.3024C>T	CCDS34437.1	.	.	.	.	.	.	.	.	.	.	C	10.62	1.401285	0.25291	.	.	ENSG00000096070	ENST00000394572	.	.	.	6.05	-1.82	0.07857	.	.	.	.	.	T	0.58235	0.2108	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.66917	-0.5802	5	0.66056	D	0.02	.	12.327	0.55018	0.0:0.3472:0.0:0.6528	.	.	.	.	W	422	.	ENSP00000378073:R422W	R	+	1	2	BRPF3	36293706	0.521000	0.26258	0.989000	0.46669	0.992000	0.81027	-0.312000	0.08113	-0.237000	0.09739	-0.145000	0.13849	CGG		0.512	BRPF3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040335.3	NM_015695	
LGSN	51557	broad.mit.edu	37	6	63990385	63990385	+	Silent	SNP	G	G	A			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr6:63990385G>A	ENST00000370657.4	-	4	1104	c.1071C>T	c.(1069-1071)tgC>tgT	p.C357C	LGSN_ENST00000370658.5_3'UTR			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	357					glutamine biosynthetic process (GO:0006542)	plasma membrane (GO:0005886)	glutamate-ammonia ligase activity (GO:0004356)			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GCGCCATCAGGCAGCTGAGCG	0.498																																						uc003peh.2																			0				skin(2)	2						c.(1069-1071)TGC>TGT		lengsin, lens protein with glutamine synthetase	L-Glutamic Acid(DB00142)						119.0	119.0	119.0					6																	63990385		2203	4300	6503	SO:0001819	synonymous_variant	51557				glutamine biosynthetic process		glutamate-ammonia ligase activity	g.chr6:63990385G>A	AF242388	CCDS4964.1, CCDS55027.1	6q12	2013-09-19	2008-09-19	2008-09-19	ENSG00000146166	ENSG00000146166			21016	protein-coding gene	gene with protein product		611470	"""glutamate-ammonia ligase (glutamine synthetase) domain containing 1"""	GLULD1		12107412	Standard	NM_016571		Approved	LGS	uc003peh.3	Q5TDP6	OTTHUMG00000014946	ENST00000370657.4:c.1071C>T	6.37:g.63990385G>A						LGSN_uc003pei.2_3'UTR	p.C357C	NM_016571	NP_057655	Q5TDP6	LGSN_HUMAN			4	1105	-			357					A1L421|Q0PVN9|Q0PVP0|Q9NYJ0	Silent	SNP	ENST00000370657.4	37	c.1071C>T	CCDS4964.1																																																																																				0.498	LGSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041076.2	NM_016571	
PPIL6	285755	broad.mit.edu	37	6	109752404	109752404	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr6:109752404C>T	ENST00000521072.2	-	3	956	c.376G>A	c.(376-378)Gca>Aca	p.A126T	PPIL6_ENST00000524031.1_5'UTR|AL109947.1_ENST00000459391.1_RNA|PPIL6_ENST00000440797.2_Missense_Mutation_p.A126T|PPIL6_ENST00000424445.2_Missense_Mutation_p.A94T	NM_173672.4	NP_775943.1	Q8IXY8	PPIL6_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 6	126					protein folding (GO:0006457)		peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)		Epithelial(106;0.00684)|BRCA - Breast invasive adenocarcinoma(108;0.00889)|all cancers(137;0.0106)|OV - Ovarian serous cystadenocarcinoma(136;0.0259)		TCAGTGAGTGCGTCATAAAGT	0.393																																						uc003ptg.3																			0					0						c.(376-378)GCA>ACA		peptidylprolyl isomerase-like 6 isoform 1							110.0	112.0	111.0					6																	109752404		2203	4300	6503	SO:0001583	missense	285755				protein folding		peptidyl-prolyl cis-trans isomerase activity	g.chr6:109752404C>T		CCDS5074.1, CCDS47466.1, CCDS47466.2, CCDS69169.1	6q21	2009-11-18			ENSG00000185250	ENSG00000185250			21557	protein-coding gene	gene with protein product	"""radial spoke 12 homolog (Chlamydomonas)"""						Standard	NM_173672		Approved	bA425D10.6, MGC41939, dJ919F19.1, RSPH12	uc010kdp.3	Q8IXY8	OTTHUMG00000036593	ENST00000521072.2:c.376G>A	6.37:g.109752404C>T	ENSP00000427929:p.Ala126Thr					PPIL6_uc010kdo.2_Missense_Mutation_p.A94T|PPIL6_uc010kdp.2_Missense_Mutation_p.A126T	p.A126T	NM_173672	NP_775943	Q8IXY8	PPIL6_HUMAN		Epithelial(106;0.00684)|BRCA - Breast invasive adenocarcinoma(108;0.00889)|all cancers(137;0.0106)|OV - Ovarian serous cystadenocarcinoma(136;0.0259)	3	430	-		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)	126					A9NIU0|A9NIU9|E7EX15	Missense_Mutation	SNP	ENST00000521072.2	37	c.376G>A	CCDS5074.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.7|20.7	4.036105|4.036105	0.75617|0.75617	.|.	.|.	ENSG00000185250|ENSG00000185250	ENST00000424445;ENST00000440797;ENST00000521072;ENST00000417394|ENST00000520723;ENST00000518648	T;T;T;T|.	0.31247|.	2.08;2.06;2.07;1.5|.	5.26|5.26	5.26|5.26	0.73747|0.73747	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71879|0.71879	0.3392|0.3392	M|M	0.77820|0.77820	2.39|2.39	0.54753|0.54753	D|D	0.999987|0.999987	D;D;D|.	0.63880|.	0.987;0.993;0.987|.	P;P;P|.	0.46320|.	0.512;0.512;0.512|.	T|T	0.72839|0.72839	-0.4171|-0.4171	10|5	0.59425|.	D|.	0.04|.	-15.54|-15.54	17.6308|17.6308	0.88106|0.88106	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	126;94;126|.	A9NIU9;E7EX15;Q8IXY8|.	.;.;PPIL6_HUMAN|.	T|H	94;126;126;83|65;73	ENSP00000407731:A94T;ENSP00000392257:A126T;ENSP00000427929:A126T;ENSP00000411731:A83T|.	ENSP00000411731:A83T|.	A|R	-|-	1|2	0|0	PPIL6|PPIL6	109859097|109859097	0.998000|0.998000	0.40836|0.40836	0.106000|0.106000	0.21319|0.21319	0.012000|0.012000	0.07955|0.07955	4.021000|4.021000	0.57196|0.57196	2.441000|2.441000	0.82636|0.82636	0.655000|0.655000	0.94253|0.94253	GCA|CGC		0.393	PPIL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089003.4		
UNC93A	54346	broad.mit.edu	37	6	167704889	167704889	+	5'UTR	SNP	C	C	A			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr6:167704889C>A	ENST00000230256.3	+	0	87				UNC93A_ENST00000366829.2_5'Flank|UNC93A_ENST00000366830.2_3'UTR	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		CTTCTTGGTACTGATTGTTTT	0.398																																						uc003qvq.2																			0					0						c.(-90--86)TACTG>TAATG		unc-93 homolog A isoform 1																																				SO:0001623	5_prime_UTR_variant	54346					integral to membrane|plasma membrane		g.chr6:167704889C>A	AJ508812	CCDS5300.1, CCDS47515.1	6q27	2014-05-16	2001-11-28		ENSG00000112494	ENSG00000112494			12570	protein-coding gene	gene with protein product		607995	"""unc93 (C.elegans) homolog A"""			12381271	Standard	NM_001143947		Approved	dJ366N23.2, dJ366N23.1	uc003qvq.3	Q86WB7	OTTHUMG00000016021	ENST00000230256.3:c.-89C>A	6.37:g.167704889C>A						UNC93A_uc003qvr.2_Translation_Start_Site		NM_018974	NP_061847	Q86WB7	UN93A_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)	1	87	+		Breast(66;7.62e-05)|Ovarian(120;0.105)						B3KRP5|Q4QQJ4|Q5JZD6	Translation_Start_Site	SNP	ENST00000230256.3	37	c.-88C>A	CCDS5300.1																																																																																				0.398	UNC93A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043125.2	NM_018974	
DAGLB	221955	broad.mit.edu	37	7	6476110	6476110	+	Missense_Mutation	SNP	C	C	A			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr7:6476110C>A	ENST00000297056.6	-	3	471	c.302G>T	c.(301-303)cGc>cTc	p.R101L	DAGLB_ENST00000428902.2_Intron|DAGLB_ENST00000421761.2_Intron|DAGLB_ENST00000436575.1_Missense_Mutation_p.R60L|DAGLB_ENST00000479922.2_5'UTR|DAGLB_ENST00000425398.2_Missense_Mutation_p.R101L	NM_139179.3	NP_631918.3	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta	101					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|lipid catabolic process (GO:0016042)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		CAGCGCCAGGCGGATGTAAAG	0.522																																						uc003sqa.2																			0				ovary(2)|central_nervous_system(1)	3						c.(301-303)CGC>CTC		diacylglycerol lipase, beta isoform 1							87.0	92.0	90.0					7																	6476110		2203	4300	6503	SO:0001583	missense	221955				lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity	g.chr7:6476110C>A	AF450090	CCDS5350.1, CCDS47536.1	7p22.1	2008-03-18			ENSG00000164535	ENSG00000164535	3.1.1.-		28923	protein-coding gene	gene with protein product		614016					Standard	NM_139179		Approved	KCCR13L, DAGLBETA	uc003sqa.3	Q8NCG7	OTTHUMG00000125513	ENST00000297056.6:c.302G>T	7.37:g.6476110C>A	ENSP00000297056:p.Arg101Leu					DAGLB_uc011jwt.1_5'Flank|DAGLB_uc011jwu.1_Missense_Mutation_p.R101L|DAGLB_uc003sqb.2_Intron|DAGLB_uc003sqc.2_Intron|DAGLB_uc011jwv.1_Intron|DAGLB_uc003sqd.3_Missense_Mutation_p.R60L|DAGLB_uc011jww.1_Intron	p.R101L	NM_139179	NP_631918	Q8NCG7	DGLB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)	3	472	-		Ovarian(82;0.232)	101			Cytoplasmic (Potential).		A4D2P3|B3KV90|B4DQU0|Q6PIX3|Q8N2N2|Q8N9S1|Q8TED3|Q8WXE6	Missense_Mutation	SNP	ENST00000297056.6	37	c.302G>T	CCDS5350.1	.	.	.	.	.	.	.	.	.	.	C	18.81	3.704041	0.68615	.	.	ENSG00000164535	ENST00000297056;ENST00000425398;ENST00000436575;ENST00000471132;ENST00000432248	T;T;T	0.56611	0.66;0.45;0.62	5.87	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.74473	0.3721	M	0.86178	2.8	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.956;0.996	T	0.76449	-0.2955	10	0.36615	T	0.2	-13.0242	15.2995	0.73936	0.0:0.9331:0.0:0.0669	.	101;101	B4DQU0;Q8NCG7	.;DGLB_HUMAN	L	101;101;60;101;101	ENSP00000297056:R101L;ENSP00000391171:R101L;ENSP00000404785:R60L	ENSP00000297056:R101L	R	-	2	0	DAGLB	6442635	1.000000	0.71417	0.614000	0.29051	0.587000	0.36485	7.175000	0.77632	1.635000	0.50512	0.655000	0.94253	CGC		0.522	DAGLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246840.2	NM_139179	
FAM188B	84182	broad.mit.edu	37	7	30915152	30915152	+	Missense_Mutation	SNP	G	G	A	rs370655350		TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr7:30915152G>A	ENST00000265299.6	+	15	1929	c.1852G>A	c.(1852-1854)Gtt>Att	p.V618I	AQP1_ENST00000509504.1_Missense_Mutation_p.V81I|AQP1_ENST00000434909.2_5'UTR|INMT-FAM188B_ENST00000458257.1_3'UTR	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	618										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TGTGTCCAACGTTTTCAACGA	0.463																																						uc003tbt.2																			0					0						c.(1852-1854)GTT>ATT		hypothetical protein LOC84182		G	ILE/VAL	1,4013		0,1,2006	285.0	283.0	284.0		1852	4.8	1.0	7		284	0,8354		0,0,4177	no	missense	FAM188B	NM_032222.2	29	0,1,6183	AA,AG,GG		0.0,0.0249,0.0081	probably-damaging	618/758	30915152	1,12367	2007	4177	6184	SO:0001583	missense	84182							g.chr7:30915152G>A	AK026027	CCDS43565.1	7p14.3	2010-08-17	2009-07-14	2009-07-14	ENSG00000106125	ENSG00000106125			21916	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 67"""	C7orf67			Standard	NM_032222		Approved	FLJ22374	uc003tbt.3	Q4G0A6	OTTHUMG00000152800	ENST00000265299.6:c.1852G>A	7.37:g.30915152G>A	ENSP00000265299:p.Val618Ile					FAM188B_uc010kwe.2_Missense_Mutation_p.V589I|AQP1_uc011kac.1_5'UTR|FAM188B_uc003tbu.2_Missense_Mutation_p.V138I	p.V618I	NM_032222	NP_115598	Q4G0A6	F188B_HUMAN			15	1929	+			618					Q71AZ7|Q9H6D2	Missense_Mutation	SNP	ENST00000265299.6	37	c.1852G>A	CCDS43565.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.034689	0.75617	2.49E-4	0.0	ENSG00000106125;ENSG00000106125;ENSG00000250424	ENST00000265299;ENST00000409881;ENST00000509504	T;T	0.36878	1.23;1.23	5.67	4.8	0.61643	.	0.000000	0.85682	D	0.000000	T	0.62708	0.2450	M	0.84585	2.705	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.985;0.995	T	0.69034	-0.5252	10	0.87932	D	0	-7.6233	12.526	0.56087	0.0809:0.0:0.9191:0.0	.	138;618	B8ZZX1;Q4G0A6	.;F188B_HUMAN	I	618;138;81	ENSP00000265299:V618I;ENSP00000421315:V81I	ENSP00000265299:V618I	V	+	1	0	RP5-877J2.1;FAM188B	30881677	1.000000	0.71417	0.998000	0.56505	0.555000	0.35460	7.392000	0.79840	1.417000	0.47077	0.650000	0.86243	GTT		0.463	FAM188B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327962.1	NM_032222	
CDC14C	168448	broad.mit.edu	37	7	48964316	48964316	+	IGR	SNP	C	C	T	rs190940569		TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr7:48964316C>T								AC004899.1 (73095 upstream) : AC010971.1 (305416 downstream)																							ACCCCCAGGACGACGTGTACG	0.577													C|||	1	0.000199681	0.0008	0.0	5008	,	,		13281	0.0		0.0	False		,,,				2504	0.0					uc010kyv.1																			0					0						c.(46-48)GAC>GAT		SubName: Full=Putative uncharacterized protein MGC26484;																																				SO:0001628	intergenic_variant	168448							g.chr7:48964316C>T																													7.37:g.48964316C>T							p.D16D	NR_003595						1	160	+									Silent	SNP		37	c.48C>T																																																																																				0	0.577								
EGFR	1956	broad.mit.edu	37	7	55259469	55259469	+	Missense_Mutation	SNP	G	G	C	rs146795390		TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr7:55259469G>C	ENST00000275493.2	+	21	2704	c.2527G>C	c.(2527-2529)Gta>Cta	p.V843L	EGFR_ENST00000442591.1_Intron|EGFR_ENST00000455089.1_Missense_Mutation_p.V798L|EGFR-AS1_ENST00000442411.1_RNA|EGFR_ENST00000454757.2_Missense_Mutation_p.V790L	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	843	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)	p.V843I(3)|p.V843L(1)		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)	AGCCAGGAACGTACTGGTGAA	0.537		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		4	Substitution - Missense(4)	p.V843I(6)	lung(2)|upper_aerodigestive_tract(1)|biliary_tract(1)	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	GRCh37	CM082606	EGFR	M	rs146795390	c.(2527-2529)GTA>CTA		epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						120.0	105.0	110.0					7																	55259469		2203	4300	6503	SO:0001583	missense	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.chr7:55259469G>C		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.2527G>C	7.37:g.55259469G>C	ENSP00000275493:p.Val843Leu	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc010kzg.1_Missense_Mutation_p.V798L|EGFR_uc011kco.1_Missense_Mutation_p.V790L|uc003tqo.2_5'Flank	p.V843L	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)		21	2773	+	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)		843			Cytoplasmic (Potential).|Protein kinase.		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.2527G>C	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	32	5.113766	0.94339	.	.	ENSG00000146648	ENST00000455089;ENST00000395504;ENST00000275493;ENST00000454757	T;T;T	0.62639	0.01;0.01;0.01	5.82	5.82	0.92795	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.76550	0.4003	L	0.56280	1.765	0.80722	D	1	D;D	0.71674	0.989;0.998	P;D	0.75020	0.828;0.985	T	0.77370	-0.2613	10	0.87932	D	0	.	18.6604	0.91470	0.0:0.0:1.0:0.0	.	798;843	Q504U8;P00533	.;EGFR_HUMAN	L	798;713;843;790	ENSP00000415559:V798L;ENSP00000275493:V843L;ENSP00000395243:V790L	ENSP00000275493:V843L	V	+	1	0	EGFR	55226963	1.000000	0.71417	0.927000	0.36925	0.974000	0.67602	9.704000	0.98716	2.751000	0.94390	0.650000	0.86243	GTA		0.537	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228	
PSPH	5723	broad.mit.edu	37	7	56085002	56085002	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr7:56085002C>T	ENST00000395471.3	-	6	1151	c.346G>A	c.(346-348)Gta>Ata	p.V116I	PSPH_ENST00000459834.1_Intron|PSPH_ENST00000275605.3_Missense_Mutation_p.V116I			P78330	SERB_HUMAN	phosphoserine phosphatase	116					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|dephosphorylation (GO:0016311)|L-serine biosynthetic process (GO:0006564)|L-serine metabolic process (GO:0006563)|response to mechanical stimulus (GO:0009612)|response to nutrient levels (GO:0031667)|response to testosterone (GO:0033574)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)	calcium ion binding (GO:0005509)|magnesium ion binding (GO:0000287)|phosphoserine phosphatase activity (GO:0004647)|protein homodimerization activity (GO:0042803)	p.V116I(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(1)|skin(1)	11	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			ACATGCTCTACAATACTCCTA	0.393																																						uc003trg.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(346-348)GTA>ATA		phosphoserine phosphatase							87.0	75.0	79.0					7																	56085002		2203	4300	6503	SO:0001583	missense	5723				L-serine biosynthetic process	cytoplasm	calcium ion binding|magnesium ion binding|phosphoserine phosphatase activity|protein homodimerization activity	g.chr7:56085002C>T	Y10275	CCDS5522.1	7p11.2	2012-10-02			ENSG00000146733	ENSG00000146733	3.1.3.3		9577	protein-coding gene	gene with protein product		172480		PSP		6297854, 9188776	Standard	NM_004577		Approved		uc003trh.3	P78330	OTTHUMG00000023441	ENST00000395471.3:c.346G>A	7.37:g.56085002C>T	ENSP00000378854:p.Val116Ile					PSPH_uc003trh.2_Missense_Mutation_p.V116I|PSPH_uc003tri.2_Missense_Mutation_p.V116I|PSPH_uc003trj.2_Missense_Mutation_p.V145I	p.V116I	NM_004577	NP_004568	P78330	SERB_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		5	709	-	Breast(14;0.214)		116					B2RCR5|Q7Z3S5	Missense_Mutation	SNP	ENST00000395471.3	37	c.346G>A	CCDS5522.1	.	.	.	.	.	.	.	.	.	.	C	10.73	1.432510	0.25813	.	.	ENSG00000146733	ENST00000275605;ENST00000395471;ENST00000421626	D;D;D	0.81908	-1.55;-1.55;-1.55	4.85	4.85	0.62838	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (2);	0.000000	0.85682	D	0.000000	T	0.65228	0.2671	N	0.05124	-0.11	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.18263	0.021;0.021	T	0.62992	-0.6736	10	0.02654	T	1	-16.2549	17.1115	0.86676	0.0:1.0:0.0:0.0	.	116;116	Q53EY1;P78330	.;SERB_HUMAN	I	116	ENSP00000275605:V116I;ENSP00000378854:V116I;ENSP00000398653:V116I	ENSP00000275605:V116I	V	-	1	0	PSPH	56052496	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.551000	0.82182	2.297000	0.77311	0.579000	0.79373	GTA		0.393	PSPH-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343304.1	NM_004577	
SERPINE1	5054	broad.mit.edu	37	7	100771685	100771685	+	Missense_Mutation	SNP	C	C	G			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr7:100771685C>G	ENST00000223095.4	+	2	168	c.11C>G	c.(10-12)tCt>tGt	p.S4C	SERPINE1_ENST00000445463.2_Missense_Mutation_p.S4C	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	4					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to lipopolysaccharide (GO:0071222)|chronological cell aging (GO:0001300)|defense response to Gram-negative bacterium (GO:0050829)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|gene expression (GO:0010467)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell migration (GO:0030336)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of plasminogen activation (GO:0010757)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell-matrix adhesion (GO:2000098)|negative regulation of vascular wound healing (GO:0061044)|negative regulation of wound healing (GO:0061045)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukotriene production involved in inflammatory response (GO:0035491)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of receptor activity (GO:0010469)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Alteplase(DB00009)|Anistreplase(DB00029)|Drotrecogin alfa(DB00055)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	ATGCAGATGTCTCCAGCCCTC	0.622																																						uc003uxt.2																			0				ovary(1)|lung(1)|central_nervous_system(1)	3						c.(10-12)TCT>TGT		plasminogen activator inhibitor-1 isoform 1	Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)						119.0	93.0	102.0					7																	100771685		2203	4300	6503	SO:0001583	missense	5054				angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity	g.chr7:100771685C>G	M16006	CCDS5711.1	7q22.1	2014-02-18	2005-08-18		ENSG00000106366	ENSG00000106366		"""Serine (or cysteine) peptidase inhibitors"""	8583	protein-coding gene	gene with protein product	"""plasminogen activator inhibitor, type I"""	173360	"""serine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1"""	PLANH1, PAI1		3097076, 2891140, 24172014	Standard	NM_000602		Approved	PAI	uc003uxt.4	P05121	OTTHUMG00000157107	ENST00000223095.4:c.11C>G	7.37:g.100771685C>G	ENSP00000223095:p.Ser4Cys					SERPINE1_uc011kkj.1_Missense_Mutation_p.S4C	p.S4C	NM_000602	NP_000593	P05121	PAI1_HUMAN			2	159	+	Lung NSC(181;0.136)|all_lung(186;0.182)		4					B7Z4S0|F8WD53	Missense_Mutation	SNP	ENST00000223095.4	37	c.11C>G	CCDS5711.1	.	.	.	.	.	.	.	.	.	.	C	13.75	2.330178	0.41297	.	.	ENSG00000106366	ENST00000223095;ENST00000445463;ENST00000441467	D;D	0.86627	-1.92;-2.15	5.27	3.36	0.38483	Serpin domain (1);	0.583371	0.16635	N	0.205884	T	0.81531	0.4842	N	0.08118	0	0.09310	N	1	B;D	0.62365	0.005;0.991	B;P	0.52710	0.005;0.707	T	0.74396	-0.3679	10	0.87932	D	0	.	11.9805	0.53117	0.0:0.6635:0.3365:0.0	.	4;4	F8WD53;P05121	.;PAI1_HUMAN	C	4	ENSP00000223095:S4C;ENSP00000396766:S4C	ENSP00000223095:S4C	S	+	2	0	SERPINE1	100558405	0.006000	0.16342	0.043000	0.18650	0.542000	0.35054	1.650000	0.37292	0.633000	0.30452	0.655000	0.94253	TCT		0.622	SERPINE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347458.1	NM_000602	
OR2A1	346528	broad.mit.edu	37	7	144015519	144015519	+	Missense_Mutation	SNP	T	T	G			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr7:144015519T>G	ENST00000408951.1	+	1	302	c.302T>G	c.(301-303)tTt>tGt	p.F101C	OR2A1-AS1_ENST00000496968.1_RNA|OR2A1-AS1_ENST00000476560.1_RNA|OR2A1-AS1_ENST00000461843.1_RNA|OR2A1-AS1_ENST00000486094.1_RNA|OR2A1-AS1_ENST00000467944.1_RNA|OR2A1-AS1_ENST00000489488.1_RNA|OR2A1-AS1_ENST00000488041.1_RNA|OR2A1-AS1_ENST00000478925.1_RNA|OR2A1-AS1_ENST00000487102.1_RNA|OR2A1-AS1_ENST00000493539.1_RNA|OR2A1-AS1_ENST00000475089.1_RNA|OR2A1-AS1_ENST00000478806.1_RNA|OR2A1-AS1_ENST00000463561.1_RNA	NM_001005287.1	NP_001005287.1	Q8NGT9	OR2A1_HUMAN	olfactory receptor, family 2, subfamily A, member 1	101						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(1)|lung(3)|skin(2)	6	Melanoma(164;0.14)					ACGCAGACCTTTCTCTGTTTG	0.572																																						uc011kud.1																			0				skin(2)	2						c.(283-285)TTT>TGT		olfactory receptor, family 2, subfamily A,							164.0	189.0	181.0					7																	144015519		2202	4298	6500	SO:0001583	missense	346528				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:144015519T>G		CCDS43673.1	7q35	2013-09-20			ENSG00000221970	ENSG00000221970		"""GPCR / Class A : Olfactory receptors"""	8229	protein-coding gene	gene with protein product							Standard	NM_001005287		Approved		uc011kub.2	Q8NGT9	OTTHUMG00000158005	ENST00000408951.1:c.302T>G	7.37:g.144015519T>G	ENSP00000386175:p.Phe101Cys					OR2A9P_uc003wec.1_Intron	p.F95C	NM_001001802	NP_001001802	Q8NGT9	OR2A1_HUMAN			1	284	+	Melanoma(164;0.14)		101			Helical; Name=3; (Potential).		Q6IF44|Q96R46	Missense_Mutation	SNP	ENST00000408951.1	37	c.284T>G	CCDS43673.1	.	.	.	.	.	.	.	.	.	.	t	4.828	0.153946	0.09185	.	.	ENSG00000221970	ENST00000408951	T	0.00408	7.54	2.96	1.7	0.24286	.	.	.	.	.	T	0.00440	0.0014	L	0.52266	1.64	0.09310	N	1	.	.	.	.	.	.	T	0.46400	-0.9194	7	0.72032	D	0.01	.	5.5367	0.17016	0.4801:0.0:0.0:0.5199	.	.	.	.	C	101	ENSP00000386175:F101C	ENSP00000386175:F101C	F	+	2	0	OR2A1	143646452	0.000000	0.05858	0.254000	0.24359	0.006000	0.05464	-0.202000	0.09451	0.295000	0.22570	0.402000	0.26972	TTT		0.572	OR2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349985.1		
SSPO	23145	broad.mit.edu	37	7	149493793	149493793	+	RNA	SNP	G	G	A			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr7:149493793G>A	ENST00000378016.2	+	0	6789							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			AGGATGGCTCGGATGAGGAGG	0.652																																						uc010lpk.2																			0					0						c.(6787-6789)TCG>TCA		SCO-spondin precursor							108.0	113.0	111.0					7																	149493793		2161	4254	6415			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149493793G>A	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149493793G>A							p.S2263S	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		46	6789	+	Melanoma(164;0.165)|Ovarian(565;0.177)		2263			LDL-receptor class A 8.		Q76B61	Silent	SNP	ENST00000378016.2	37	c.6789G>A																																																																																					0.652	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript			
UBE3C	9690	broad.mit.edu	37	7	157046788	157046788	+	Silent	SNP	T	T	C			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr7:157046788T>C	ENST00000348165.5	+	20	3195	c.2835T>C	c.(2833-2835)aaT>aaC	p.N945N		NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	945	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		GCCTTGCCAATGTCGTCAGCC	0.562																																						uc010lqs.2																			0				ovary(2)|lung(2)|large_intestine(1)	5						c.(2833-2835)AAT>AAC		ubiquitin protein ligase E3C							55.0	53.0	54.0					7																	157046788		2203	4300	6503	SO:0001819	synonymous_variant	9690				protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity	g.chr7:157046788T>C	AK127280	CCDS34789.1	7q36.3	2004-05-04			ENSG00000009335	ENSG00000009335			16803	protein-coding gene	gene with protein product		614454				7584026, 11278995	Standard	NM_014671		Approved	KIAA0010, KIAA10	uc010lqs.3	Q15386	OTTHUMG00000157239	ENST00000348165.5:c.2835T>C	7.37:g.157046788T>C						UBE3C_uc003wni.3_Silent_p.N308N	p.N945N	NM_014671	NP_055486	Q15386	UBE3C_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)	20	3147	+		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	945			HECT.		A4D235|A6NCP3|Q8TC15|Q96CR4|Q9UDU3	Silent	SNP	ENST00000348165.5	37	c.2835T>C	CCDS34789.1																																																																																				0.562	UBE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348108.1	NM_014671	
PTGER4P2	5736	broad.mit.edu	37	9	66499790	66499790	+	IGR	SNP	G	G	T	rs570865852	byFrequency	TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr9:66499790G>T								RP11-262H14.1 (30480 upstream) : RP11-262H14.7 (17415 downstream)																							TGCTGTGCAAGTCGCGCAAGG	0.597																																						uc004aee.1																			0					0						c.(598-600)AAG>AAT		Homo sapiens hypothetical LOC442421, mRNA (cDNA clone IMAGE:40031134).																																				SO:0001628	intergenic_variant	442421							g.chr9:66499790G>T																													9.37:g.66499790G>T						LOC442421_uc004aed.1_RNA	p.K200N							1	600	+									Missense_Mutation	SNP		37	c.600G>T																																																																																				0	0.597								
GCNT1	2650	broad.mit.edu	37	9	79118132	79118132	+	Nonsense_Mutation	SNP	G	G	T	rs656106		TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr9:79118132G>T	ENST00000376730.4	+	4	1318	c.835G>T	c.(835-837)Gaa>Taa	p.E279*	GCNT1_ENST00000442371.1_Nonsense_Mutation_p.E279*|GCNT1_ENST00000536223.1_Nonsense_Mutation_p.E279*|GCNT1_ENST00000444201.2_Nonsense_Mutation_p.E279*	NM_001097636.1|NM_001490.4	NP_001091105.1|NP_001481.2	Q02742	GCNT1_HUMAN	glucosaminyl (N-acetyl) transferase 1, core 2	279	Catalytic. {ECO:0000250}.				cell adhesion molecule production (GO:0060352)|cellular protein metabolic process (GO:0044267)|glycoprotein biosynthetic process (GO:0009101)|kidney morphogenesis (GO:0060993)|leukocyte tethering or rolling (GO:0050901)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to insulin (GO:0032868)|tissue morphogenesis (GO:0048729)	extracellular space (GO:0005615)|Golgi cisterna (GO:0031985)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0003829)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1)	30						TCCTCCACTCGAAACACCTCT	0.463																																						uc010mpf.2																			0					0						c.(835-837)GAA>TAA		beta-1,3-galactosyl-O-glycosyl-glycoprotein							120.0	97.0	105.0					9																	79118132		2203	4300	6503	SO:0001587	stop_gained	2650				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity	g.chr9:79118132G>T	L41415	CCDS6653.1	9q13	2013-02-25	2010-03-16		ENSG00000187210	ENSG00000187210	2.4.1.102	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	4203	protein-coding gene	gene with protein product	"""core 2 beta1,6 N-acetylglucosaminyltransferase-I"", ""beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N--acetylglucosaminyltransferase"""	600391	"""glucosaminyl (N-acetyl) transferase 1, core 2 (beta-1,6-N-acetylglucosaminyltransferase)"""	NACGT2		8449405, 9915862	Standard	NM_001490		Approved	C2GNT, NAGCT2	uc004akf.4	Q02742	OTTHUMG00000020044	ENST00000376730.4:c.835G>T	9.37:g.79118132G>T	ENSP00000365920:p.Glu279*					GCNT1_uc010mpg.2_Nonsense_Mutation_p.E279*|GCNT1_uc010mph.2_Nonsense_Mutation_p.E279*|GCNT1_uc004akf.3_Nonsense_Mutation_p.E279*|GCNT1_uc010mpi.2_Nonsense_Mutation_p.E279*|GCNT1_uc004akh.3_Nonsense_Mutation_p.E279*	p.E279*	NM_001490	NP_001481	Q02742	GCNT1_HUMAN			3	1176	+			279			Lumenal (Potential).|Catalytic (By similarity).		Q6DJZ4	Nonsense_Mutation	SNP	ENST00000376730.4	37	c.835G>T	CCDS6653.1	.	.	.	.	.	.	.	.	.	.	g	17.11	3.306135	0.60305	.	.	ENSG00000187210	ENST00000536223;ENST00000442371;ENST00000444201;ENST00000376730	.	.	.	6.17	2.02	0.26589	.	0.575870	0.20111	N	0.099008	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.0228	0.14370	0.3205:0.3067:0.3728:0.0	rs656106;rs52811980;rs656106	.	.	.	X	279	.	.	E	+	1	0	GCNT1	78307952	0.115000	0.22152	0.001000	0.08648	0.021000	0.10359	0.915000	0.28638	0.080000	0.16959	0.655000	0.94253	GAA		0.463	GCNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052725.1	NM_001097634	
