#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	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
PRDM2	7799	broad.mit.edu	37	1	14106924	14106924	+	Silent	SNP	A	A	G			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr1:14106924A>G	ENST00000235372.7	+	8	3490	c.2634A>G	c.(2632-2634)gtA>gtG	p.V878V	PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000311066.5_Silent_p.V878V|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000343137.4_Silent_p.V677V|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000413440.1_Silent_p.V677V	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	878					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		GTAGTGCTGTAAAGAAAAGGA	0.423																																						uc001avi.2		NA																	0				ovary(1)	1						c.(2632-2634)GTA>GTG		retinoblastoma protein-binding zinc finger							97.0	90.0	92.0					1																	14106924		2203	4300	6503	SO:0001819	synonymous_variant	7799					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:14106924A>G	U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731		"""Chromatin-modifying enzymes / K-methyltransferases"""	9347	protein-coding gene	gene with protein product	"""retinoblastoma protein-binding zinc finger protein"", ""retinoblastoma protein-interacting zinc finger protein"", ""MTE-binding protein"", ""zinc-finger DNA-binding protein"", ""GATA-3 binding protein G3B"""	601196				7538672	Standard	NM_012231		Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.2634A>G	1.37:g.14106924A>G						PRDM2_uc001avg.2_Intron|PRDM2_uc001avh.2_Silent_p.V878V|PRDM2_uc001avj.2_Intron|PRDM2_uc001avk.2_Silent_p.V677V|PRDM2_uc009voe.2_Intron|PRDM2_uc009vof.2_Intron	p.V878V	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)	8	3490	+	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	878					B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Silent	SNP	ENST00000235372.7	37	c.2634A>G	CCDS150.1																																																																																				0.423	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021792.2	NM_012231		26	68	0	0	0	0	26	68				
PDIK1L	149420	broad.mit.edu	37	1	26448944	26448944	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr1:26448944A>G	ENST00000374271.4	+	4	1189	c.902A>G	c.(901-903)aAt>aGt	p.N301S	PDIK1L_ENST00000374269.1_Missense_Mutation_p.N301S	NM_001243532.1|NM_001243533.1|NM_152835.4	NP_001230461.1|NP_001230462.1|NP_690048.1	Q8N165	PDK1L_HUMAN	PDLIM1 interacting kinase 1 like	301	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	7		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00239)|all_lung(284;0.00366)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000735)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.015)|READ - Rectum adenocarcinoma(331;0.0649)		AAATCTATGAATGGGCGAATG	0.398																																						uc010oew.1		NA																	0					0						c.(901-903)AAT>AGT		PDLIM1 interacting kinase 1 like							71.0	74.0	73.0					1																	26448944		2203	4300	6503	SO:0001583	missense	149420					nucleus	ATP binding|protein serine/threonine kinase activity	g.chr1:26448944A>G	AF411102	CCDS274.1	1p35.1	2008-02-05			ENSG00000175087	ENSG00000175087			18981	protein-coding gene	gene with protein product		610785				14631099	Standard	NM_152835		Approved	CLIK1L	uc009vsb.3	Q8N165	OTTHUMG00000007511	ENST00000374271.4:c.902A>G	1.37:g.26448944A>G	ENSP00000363389:p.Asn301Ser					PDIK1L_uc001blj.3_Missense_Mutation_p.N301S|PDIK1L_uc009vsb.2_Missense_Mutation_p.N301S	p.N301S	NM_152835	NP_690048	Q8N165	PDK1L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000735)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.015)|READ - Rectum adenocarcinoma(331;0.0649)	3	1175	+		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00239)|all_lung(284;0.00366)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)	301			Protein kinase.		B2R777|D3DPK2|Q5T2I0|Q8NDB3	Missense_Mutation	SNP	ENST00000374271.4	37	c.902A>G	CCDS274.1	.	.	.	.	.	.	.	.	.	.	A	7.581	0.668716	0.14776	.	.	ENSG00000175087	ENST00000374271;ENST00000374269	T;T	0.17213	2.29;2.29	5.62	5.62	0.85841	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.06645	0.0170	N	0.00960	-1.095	0.31568	N	0.656669	B	0.20368	0.044	B	0.24006	0.05	T	0.14144	-1.0483	9	.	.	.	-26.9098	15.7904	0.78357	1.0:0.0:0.0:0.0	.	301	Q8N165	PDK1L_HUMAN	S	301	ENSP00000363389:N301S;ENSP00000363387:N301S	.	N	+	2	0	PDIK1L	26321531	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.091000	0.76923	2.266000	0.75297	0.533000	0.62120	AAT		0.398	PDIK1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019752.1	NM_152835		21	45	0	0	0	0	21	45				
MAP3K6	9064	broad.mit.edu	37	1	27682581	27682581	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr1:27682581G>C	ENST00000493901.1	-	28	3886	c.3647C>G	c.(3646-3648)tCa>tGa	p.S1216*	MAP3K6_ENST00000374040.3_Nonsense_Mutation_p.S1208*|MAP3K6_ENST00000357582.2_Nonsense_Mutation_p.S1216*	NM_004672.3	NP_004663.3	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase 6	1216					activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)			breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CTGGTCCGTTGAAAGAGCAGC	0.562																																						uc001bny.1		NA																	0				breast(4)|lung(3)|ovary(1)|central_nervous_system(1)	9						c.(3646-3648)TCA>TGA		mitogen-activated protein kinase kinase kinase							83.0	80.0	81.0					1																	27682581		2203	4300	6503	SO:0001587	stop_gained	9064				activation of JUN kinase activity		ATP binding|magnesium ion binding|MAP kinase kinase kinase activity	g.chr1:27682581G>C	AF100318	CCDS299.1, CCDS72738.1	1p36.11	2011-06-09			ENSG00000142733	ENSG00000142733		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6858	protein-coding gene	gene with protein product	"""apoptosis signal regulating kinase 2"""	604468				9875215	Standard	XM_005246029		Approved	MAPKKK6, ASK2, MEKK6	uc001bny.1	O95382	OTTHUMG00000004631	ENST00000493901.1:c.3647C>G	1.37:g.27682581G>C	ENSP00000419591:p.Ser1216*					MAP3K6_uc009vsw.1_Nonsense_Mutation_p.S1208*	p.S1216*	NM_004672	NP_004663	O95382	M3K6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)	27	3896	-		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	1216					A2ACE8|A2VDG4|A2VDG5|Q59HF4|Q5SSD4|Q75PK3|Q96B75	Nonsense_Mutation	SNP	ENST00000493901.1	37	c.3647C>G	CCDS299.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	41|41	8.828515|8.828515	0.98968|0.98968	.|.	.|.	ENSG00000142733|ENSG00000142733	ENST00000486046|ENST00000374040;ENST00000493901;ENST00000374036;ENST00000357582	.|.	.|.	.|.	4.7|4.7	3.79|3.79	0.43588|0.43588	.|.	.|.	.|.	.|.	.|.	T|.	0.48874|.	0.1524|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.57894|.	-0.7732|.	3|.	.|0.31617	.|T	.|0.26	.|.	8.2277|8.2277	0.31579|0.31579	0.1071:0.0:0.8929:0.0|0.1071:0.0:0.8929:0.0	.|.	.|.	.|.	.|.	E|X	32|1208;1216;54;1216	.|.	.|ENSP00000350195:S1216X	Q|S	-|-	1|2	0|0	MAP3K6|MAP3K6	27555168|27555168	0.002000|0.002000	0.14202|0.14202	0.001000|0.001000	0.08648|0.08648	0.005000|0.005000	0.04900|0.04900	1.245000|1.245000	0.32790|0.32790	1.188000|1.188000	0.43014|0.43014	0.655000|0.655000	0.94253|0.94253	CAA|TCA		0.562	MAP3K6-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000013469.2	NM_004672		14	41	0	0	0	0	14	41				
EPHA10	284656	broad.mit.edu	37	1	38227606	38227606	+	Silent	SNP	G	G	A			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr1:38227606G>A	ENST00000373048.4	-	3	320	c.321C>T	c.(319-321)ttC>ttT	p.F107F	EPHA10_ENST00000427468.2_Silent_p.F107F|EPHA10_ENST00000319637.6_Silent_p.F107F	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	107	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				ephrin receptor signaling pathway (GO:0048013)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane-ephrin receptor activity (GO:0005005)			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CACGGAGTGTGAACTGCAGTT	0.622																																						uc009vvi.2		NA																	0				breast(4)|stomach(3)|lung(1)	8						c.(319-321)TTC>TTT		EPH receptor A10 isofom 3							103.0	99.0	100.0					1																	38227606		2203	4300	6503	SO:0001819	synonymous_variant	284656					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity	g.chr1:38227606G>A	AK090974	CCDS425.1, CCDS41305.1	1p34.3	2013-02-11			ENSG00000183317	ENSG00000183317		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19987	protein-coding gene	gene with protein product		611123				12477932	Standard	NM_001099439		Approved	FLJ16103, FLJ33655	uc009vvi.3	Q5JZY3	OTTHUMG00000004325	ENST00000373048.4:c.321C>T	1.37:g.38227606G>A						EPHA10_uc001cbw.3_Silent_p.F107F	p.F107F	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN			3	407	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	107			Extracellular (Potential).		A4FU89|J3KPB5|Q6NW42	Silent	SNP	ENST00000373048.4	37	c.321C>T	CCDS41305.1																																																																																				0.622	EPHA10-003	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000012497.2	NM_173641		41	101	0	0	0	0	41	101				
FPGT	8790	broad.mit.edu	37	1	74671407	74671407	+	Missense_Mutation	SNP	A	A	G	rs372383046		TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr1:74671407A>G	ENST00000609362.1	+	4	1713	c.1676A>G	c.(1675-1677)tAt>tGt	p.Y559C	FPGT-TNNI3K_ENST00000370895.1_Intron|FPGT-TNNI3K_ENST00000557284.2_Intron|TNNI3K_ENST00000370891.2_Intron|FPGT-TNNI3K_ENST00000370893.1_Intron|FPGT-TNNI3K_ENST00000370899.3_Intron|FPGT_ENST00000534056.1_Missense_Mutation_p.Y305C|FPGT_ENST00000370894.5_3'UTR|FPGT_ENST00000524915.1_Intron|FPGT-TNNI3K_ENST00000533006.1_Intron|FPGT_ENST00000370898.3_Missense_Mutation_p.Y572C	NM_003838.4	NP_003829.3	O14772	FPGT_HUMAN	fucose-1-phosphate guanylyltransferase	559					fucose metabolic process (GO:0006004)	cytoplasm (GO:0005737)	catalytic activity (GO:0003824)|fucose-1-phosphate guanylyltransferase activity (GO:0047341)|GTP binding (GO:0005525)			breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	39						CTGAATAGCTATAAGTTGCTG	0.338													A|||	1	0.000199681	0.0	0.0	5008	,	,		19160	0.001		0.0	False		,,,				2504	0.0					uc001dgb.1		NA																	0				skin(1)	1						c.(1675-1677)TAT>TGT		fucose-1-phosphate guanyltransferase							84.0	77.0	79.0					1																	74671407		2203	4300	6503	SO:0001583	missense	8790				fucose metabolic process	cytoplasm	fucose-1-phosphate guanylyltransferase activity|GTP binding	g.chr1:74671407A>G	AF017445	CCDS663.1, CCDS663.2	1p31.1	2013-09-24			ENSG00000254685	ENSG00000254685	2.7.7.30		3825	protein-coding gene	gene with protein product		603609				9804772	Standard	NM_003838		Approved	GFPP		O14772	OTTHUMG00000009571	ENST00000609362.1:c.1676A>G	1.37:g.74671407A>G	ENSP00000476680:p.Tyr559Cys					TNNI3K_uc001dgc.1_Intron|TNNI3K_uc001dgd.2_Intron|TNNI3K_uc001dge.1_Intron|FPGT_uc010oqt.1_Missense_Mutation_p.Y184C|FPGT_uc010oqu.1_Missense_Mutation_p.Y305C|FPGT_uc010oqv.1_Intron	p.Y559C	NM_003838	NP_003829	O14772	FPGT_HUMAN			4	1713	+			559					A6NMH3|B4DRX2|B4E2Y7|E9PNQ2|Q8N5J7	Missense_Mutation	SNP	ENST00000609362.1	37	c.1676A>G	CCDS663.1	.	.	.	.	.	.	.	.	.	.	A	9.828	1.187732	0.21954	.	.	ENSG00000254685	ENST00000370898;ENST00000534056	T;T	0.44881	1.51;0.91	4.83	3.58	0.41010	.	.	.	.	.	T	0.34221	0.0890	L	0.51422	1.61	0.21579	N	0.999632	D;D;P	0.76494	0.999;0.998;0.932	P;P;P	0.58820	0.846;0.818;0.525	T	0.11966	-1.0566	9	0.38643	T	0.18	.	9.4007	0.38431	0.4118:0.0:0.0:0.5882	.	305;184;559	E9PNQ2;B4E2Y7;O14772	.;.;FPGT_HUMAN	C	559;305	ENSP00000359935:Y559C;ENSP00000432819:Y305C	ENSP00000359935:Y559C	Y	+	2	0	TNNI3K	74443995	0.034000	0.19679	0.012000	0.15200	0.759000	0.43091	1.810000	0.38932	0.525000	0.28522	0.460000	0.39030	TAT		0.338	FPGT-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				17	43	0	0	0	0	17	43				
TRMT13	54482	broad.mit.edu	37	1	100598746	100598746	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr1:100598746C>A	ENST00000370141.2	+	1	28	c.22C>A	c.(22-24)Ccg>Acg	p.P8T	TRMT13_ENST00000370143.1_Missense_Mutation_p.P8T|SASS6_ENST00000462159.1_5'Flank|TRMT13_ENST00000370139.1_5'Flank|SASS6_ENST00000287482.5_5'Flank|SASS6_ENST00000535161.1_5'Flank	NM_019083.2	NP_061956.2	Q9NUP7	TRM13_HUMAN	tRNA methyltransferase 13 homolog (S. cerevisiae)	8					tRNA processing (GO:0008033)		metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)										CGCGACGTCGCCGCACGCGCC	0.552																																						uc001dsv.2		NA																	0				ovary(1)	1						c.(22-24)CCG>ACG		coiled-coil domain containing 76							52.0	55.0	54.0					1																	100598746		2203	4300	6503	SO:0001583	missense	54482				tRNA processing		metal ion binding|methyltransferase activity	g.chr1:100598746C>A	BC075811	CCDS765.1	1p21.2	2012-06-07	2012-06-07	2012-06-07	ENSG00000122435	ENSG00000122435			25502	protein-coding gene	gene with protein product			"""coiled-coil domain containing 76"""	CCDC76		11799066	Standard	NM_019083		Approved	FLJ10287, FLJ11219	uc001dsv.3	Q9NUP7	OTTHUMG00000010841	ENST00000370141.2:c.22C>A	1.37:g.100598746C>A	ENSP00000359160:p.Pro8Thr					SASS6_uc001dsu.2_5'Flank|SASS6_uc009wdz.2_5'Flank|CCDC76_uc010ouf.1_RNA|CCDC76_uc009wea.2_Missense_Mutation_p.P8T	p.P8T	NM_019083	NP_061956	Q9NUP7	TRM13_HUMAN		Epithelial(280;0.0814)|all cancers(265;0.133)|COAD - Colon adenocarcinoma(174;0.146)|Lung(183;0.194)	1	41	+		all_epithelial(167;0.000542)|all_lung(203;0.0154)|Lung NSC(277;0.0155)	8					Q5VVL0|Q9NW65	Missense_Mutation	SNP	ENST00000370141.2	37	c.22C>A	CCDS765.1	.	.	.	.	.	.	.	.	.	.	C	10.62	1.402576	0.25291	.	.	ENSG00000122435	ENST00000370143;ENST00000370141	T;T	0.40756	1.03;1.02	4.79	1.7	0.24286	.	0.869928	0.10150	N	0.709746	T	0.06096	0.0158	N	0.03115	-0.41	0.18873	N	0.999982	B;B	0.06786	0.0;0.001	B;B	0.04013	0.0;0.001	T	0.34229	-0.9837	10	0.35671	T	0.21	0.0108	3.7799	0.08676	0.3408:0.4756:0.0:0.1835	.	8;8	B4DQS9;Q9NUP7	.;TRM13_HUMAN	T	8	ENSP00000359162:P8T;ENSP00000359160:P8T	ENSP00000359160:P8T	P	+	1	0	CCDC76	100371334	0.185000	0.23213	0.005000	0.12908	0.033000	0.12548	0.815000	0.27253	0.602000	0.29896	0.555000	0.69702	CCG		0.552	TRMT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029919.1	NM_019083		8	33	1	0	0.000274275	0.000296909	8	33				
SYPL2	284612	broad.mit.edu	37	1	110022065	110022065	+	Silent	SNP	G	G	C	rs200840758	byFrequency	TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr1:110022065G>C	ENST00000369872.3	+	6	930	c.714G>C	c.(712-714)ccG>ccC	p.P238P	SYPL2_ENST00000401021.3_Silent_p.P174P	NM_001040709.1	NP_001035799.1	Q5VXT5	SYPL2_HUMAN	synaptophysin-like 2	238	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				cellular calcium ion homeostasis (GO:0006874)|substantia nigra development (GO:0021762)	integral component of synaptic vesicle membrane (GO:0030285)	transporter activity (GO:0005215)			breast(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0436)|READ - Rectum adenocarcinoma(129;0.0698)|Epithelial(280;0.0808)|all cancers(265;0.0869)|LUSC - Lung squamous cell carcinoma(189;0.231)		AGGAGACCCCGTGGCATGGAc	0.582																																						uc001dxp.2		NA																	0				ovary(1)	1						c.(712-714)CCG>CCC		mitsugumin 29							102.0	111.0	108.0					1																	110022065		1983	4189	6172	SO:0001819	synonymous_variant	284612					integral to membrane|synaptic vesicle	transporter activity	g.chr1:110022065G>C	AK131459	CCDS41365.1	1p13.3	2008-02-05			ENSG00000143028	ENSG00000143028			27638	protein-coding gene	gene with protein product	"""mitsugumin-29"""					12975309	Standard	NM_001040709		Approved	Mg29	uc001dxp.3	Q5VXT5	OTTHUMG00000010969	ENST00000369872.3:c.714G>C	1.37:g.110022065G>C						SYPL2_uc010ovk.1_Silent_p.P174P	p.P238P	NM_001040709	NP_001035799	Q5VXT5	SYPL2_HUMAN		Colorectal(144;0.0129)|Lung(183;0.0436)|READ - Rectum adenocarcinoma(129;0.0698)|Epithelial(280;0.0808)|all cancers(265;0.0869)|LUSC - Lung squamous cell carcinoma(189;0.231)	6	1080	+		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)	238			Cytoplasmic (Potential).|MARVEL.		A8K0E8|A8KAL7|I0IT67|Q6ZMX1	Silent	SNP	ENST00000369872.3	37	c.714G>C	CCDS41365.1																																																																																				0.582	SYPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030191.1	NM_001006603		22	51	0	0	0	0	22	51				
MOV10	4343	broad.mit.edu	37	1	113240920	113240920	+	Silent	SNP	C	C	T			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr1:113240920C>T	ENST00000413052.2	+	16	2718	c.2328C>T	c.(2326-2328)atC>atT	p.I776I	MOV10_ENST00000369645.1_Silent_p.I776I|RP11-426L16.3_ENST00000421943.1_RNA|MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000369644.1_Silent_p.I720I|MOV10_ENST00000357443.2_Silent_p.I776I	NM_001130079.1|NM_020963.3	NP_001123551.1|NP_066014.1	Q9HCE1	MOV10_HUMAN	Mov10 RISC complex RNA helicase	776					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		GCTTTCCCATCATCTTTCACG	0.557																																						uc001eck.2		NA																	0				ovary(4)|skin(1)	5						c.(2326-2328)ATC>ATT		Mov10, Moloney leukemia virus 10, homolog							59.0	49.0	53.0					1																	113240920		2203	4300	6503	SO:0001819	synonymous_variant	4343				mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding	g.chr1:113240920C>T	AL833353	CCDS853.1, CCDS65615.1	1p13.2	2014-07-02	2014-07-02		ENSG00000155363	ENSG00000155363			7200	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 113"""	610742	"""Mov10 (Moloney leukemia virus 10, mouse) homolog"", ""Mov10, Moloney leukemia virus 10, homolog (mouse)"""			12226669	Standard	NM_001286072		Approved	gb110, MGC2948, fSAP113	uc001eck.3	Q9HCE1	OTTHUMG00000011906	ENST00000413052.2:c.2328C>T	1.37:g.113240920C>T						MOV10_uc001ecl.2_Intron|MOV10_uc001ecn.2_Silent_p.I776I|MOV10_uc001ecm.2_Silent_p.I716I	p.I776I	NM_001130079	NP_001123551	Q9HCE1	MOV10_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)	16	2598	+	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)	776					Q5JR03|Q8TEF0|Q9BSY3|Q9BUJ9	Silent	SNP	ENST00000413052.2	37	c.2328C>T	CCDS853.1																																																																																				0.557	MOV10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032906.1	NM_020963		7	28	0	0	0	0	7	28				
NBPF10	100132406	broad.mit.edu	37	1	145299900	145299900	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr1:145299900C>G	ENST00000369338.1	+	2	326	c.136C>G	c.(136-138)Caa>Gaa	p.Q46E	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000342960.5_Missense_Mutation_p.Q317E|RP11-458D21.5_ENST00000468030.1_3'UTR			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	317						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TTTTCTAACTCAACTGTCCGG	0.428																																						uc001end.3		NA																	0					0						c.(949-951)CAA>GAA		hypothetical protein LOC100132406							45.0	31.0	35.0					1																	145299900		692	1591	2283	SO:0001583	missense	100132406							g.chr1:145299900C>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369338.1:c.136C>G	1.37:g.145299900C>G	ENSP00000358344:p.Gln46Glu					NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|NBPF10_uc001emp.3_Missense_Mutation_p.Q317E|NBPF10_uc010oyi.1_5'Flank|NBPF10_uc001emq.1_Intron	p.Q317E	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	6	984	+	all_hematologic(923;0.032)		317					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000369338.1	37	c.949C>G		.	.	.	.	.	.	.	.	.	.	.	6.236	0.411618	0.11812	.	.	ENSG00000163386	ENST00000448873;ENST00000369338;ENST00000369334;ENST00000342960	T;T	0.08546	3.08;4.09	1.05	-2.1	0.07210	.	.	.	.	.	T	0.01695	0.0054	L	0.39397	1.21	0.09310	N	1	P	0.40909	0.732	B	0.36244	0.22	T	0.39502	-0.9611	9	0.44086	T	0.13	.	2.9349	0.05811	0.3057:0.3907:0.3036:0.0	.	46	Q86T75-2	.	E	242;46;46;317	ENSP00000358344:Q46E;ENSP00000345684:Q317E	ENSP00000345684:Q317E	Q	+	1	0	NBPF10	144011257	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	0.598000	0.24074	-0.602000	0.05775	0.281000	0.19383	CAA		0.428	NBPF10-003	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038552.1	NM_001039703		22	134	0	0	0	0	22	134				
HRNR	388697	broad.mit.edu	37	1	152192700	152192700	+	Missense_Mutation	SNP	C	C	G	rs147754674		TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr1:152192700C>G	ENST00000368801.2	-	3	1480	c.1405G>C	c.(1405-1407)Gag>Cag	p.E469Q	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	469					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGCTAGACTCGTGGTGACCA	0.567																																						uc001ezt.1		NA																	0				skin(2)|ovary(1)	3						c.(1405-1407)GAG>CAG		hornerin							223.0	219.0	220.0					1																	152192700		2203	4300	6503	SO:0001583	missense	388697				keratinization		calcium ion binding|protein binding	g.chr1:152192700C>G	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.1405G>C	1.37:g.152192700C>G	ENSP00000357791:p.Glu469Gln						p.E469Q	NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	1481	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		469					Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.1405G>C	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	C	4.858	0.159571	0.09287	.	.	ENSG00000197915	ENST00000368801	T	0.01871	4.59	2.69	0.67	0.17923	.	.	.	.	.	T	0.00412	0.0013	N	0.14661	0.345	0.09310	N	1	P	0.42584	0.784	B	0.38106	0.265	T	0.36040	-0.9764	9	0.13108	T	0.6	.	4.9755	0.14138	0.0:0.6834:0.0:0.3166	.	469	Q86YZ3	HORN_HUMAN	Q	469	ENSP00000357791:E469Q	ENSP00000357791:E469Q	E	-	1	0	HRNR	150459324	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.437000	0.02419	0.043000	0.15746	0.499000	0.49734	GAG		0.567	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		42	109	0	0	0	0	42	109				
HRNR	388697	broad.mit.edu	37	1	152192821	152192821	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr1:152192821C>G	ENST00000368801.2	-	3	1359	c.1284G>C	c.(1282-1284)caG>caC	p.Q428H	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	428					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAGACCCACGCTGGCCGTGGC	0.612																																						uc001ezt.1		NA																	0				skin(2)|ovary(1)	3						c.(1282-1284)CAG>CAC		hornerin							75.0	78.0	77.0					1																	152192821		2203	4300	6503	SO:0001583	missense	388697				keratinization		calcium ion binding|protein binding	g.chr1:152192821C>G	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.1284G>C	1.37:g.152192821C>G	ENSP00000357791:p.Gln428His						p.Q428H	NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	1360	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		428			4		Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.1284G>C	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	C	4.737	0.136991	0.09032	.	.	ENSG00000197915	ENST00000368801	T	0.03889	3.77	3.48	-0.35	0.12606	.	.	.	.	.	T	0.00815	0.0027	N	0.14661	0.345	0.09310	N	1	B	0.15141	0.012	B	0.08055	0.003	T	0.47032	-0.9148	9	0.42905	T	0.14	.	3.8494	0.08948	0.0:0.2296:0.1874:0.5829	.	428	Q86YZ3	HORN_HUMAN	H	428	ENSP00000357791:Q428H	ENSP00000357791:Q428H	Q	-	3	2	HRNR	150459445	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	-2.114000	0.01329	-0.264000	0.09365	-1.034000	0.02401	CAG		0.612	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		18	44	0	0	0	0	18	44				
FCRLB	127943	broad.mit.edu	37	1	161697075	161697075	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr1:161697075C>A	ENST00000367948.2	+	8	1119	c.904C>A	c.(904-906)Cca>Aca	p.P302T	FCRLB_ENST00000367944.3_Missense_Mutation_p.S260Y|FCRLB_ENST00000367946.3_Silent_p.L253L|FCRLB_ENST00000392158.1_Missense_Mutation_p.P302T|FCRLB_ENST00000367945.1_Silent_p.L246L|FCRLB_ENST00000336830.5_Missense_Mutation_p.S267Y|FCRLB_ENST00000495397.1_3'UTR			Q6BAA4	FCRLB_HUMAN	Fc receptor-like B	302					negative regulation of immune response (GO:0050777)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|skin(1)	17	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			CGCCCCAGCTCCATGGGCCGC	0.652																																						uc001gbh.2		NA																	0					0						c.(904-906)CCA>ACA		Fc receptor-like B							21.0	24.0	23.0					1																	161697075		2198	4293	6491	SO:0001583	missense	127943					endoplasmic reticulum		g.chr1:161697075C>A	AY670683	CCDS30927.1, CCDS72962.1, CCDS72963.1, CCDS72964.1, CCDS72965.1	1q23.3	2013-01-11	2006-09-26	2006-09-26	ENSG00000162746	ENSG00000162746		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26431	protein-coding gene	gene with protein product		609251	"""Fc receptor-like and mucin-like 2"""	FCRLM2		15676285	Standard	NM_001288829		Approved	FLJ31052, FCRL2, FREB-2, FCRLY	uc001gbi.3	Q6BAA4	OTTHUMG00000133629	ENST00000367948.2:c.904C>A	1.37:g.161697075C>A	ENSP00000356925:p.Pro302Thr					FCRLB_uc009wus.2_Missense_Mutation_p.P302T|FCRLB_uc001gbj.2_Silent_p.L253L|FCRLB_uc001gbk.2_Missense_Mutation_p.S267Y|FCRLB_uc001gbl.2_Silent_p.L246L|FCRLB_uc001gbm.2_Missense_Mutation_p.S260Y|FCRLB_uc001gbi.2_Missense_Mutation_p.P302T|FCRLB_uc001gbn.3_Missense_Mutation_p.S304Y	p.P302T	NM_001002901	NP_001002901	Q6BAA4	FCRLB_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00634)		8	1138	+	all_hematologic(112;0.0359)		302					A2A3J5|A2A3J7|Q5VXA6|Q6BAA0|Q6BAA1|Q6BAA2|Q6BAA3|Q8IXZ7	Missense_Mutation	SNP	ENST00000367948.2	37	c.904C>A	CCDS30927.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.79|11.79	1.744702|1.744702	0.30865|0.30865	.|.	.|.	ENSG00000162746|ENSG00000162746	ENST00000367948;ENST00000392158|ENST00000336830;ENST00000367944	D;D|T;T	0.97016|0.02301	-4.21;-4.21|4.35;4.37	3.95|3.95	3.02|3.02	0.34903|0.34903	.|.	0.196670|.	0.25060|.	N|.	0.033453|.	T|T	0.02047|0.02047	0.0064|0.0064	L|L	0.50333|0.50333	1.59|1.59	0.09310|0.09310	N|N	1|1	P|D;P;P	0.41313|0.53885	0.745|0.963;0.589;0.589	B|P;B;B	0.31614|0.52217	0.133|0.693;0.192;0.192	T|T	0.44667|0.44667	-0.9313|-0.9313	10|9	0.46703|0.87932	T|D	0.11|0	.|.	9.5438|9.5438	0.39268|0.39268	0.0:0.7863:0.2137:0.0|0.0:0.7863:0.2137:0.0	.|.	302|304;260;267	Q6BAA4|Q96DP6;Q6BAA4-3;Q6BAA4-2	FCRLB_HUMAN|.;.;.	T|Y	302|267;260	ENSP00000356925:P302T;ENSP00000375999:P302T|ENSP00000338598:S267Y;ENSP00000356921:S260Y	ENSP00000356925:P302T|ENSP00000338598:S267Y	P|S	+|+	1|2	0|0	FCRLB|FCRLB	159963699|159963699	0.005000|0.005000	0.15991|0.15991	0.011000|0.011000	0.14972|0.14972	0.083000|0.083000	0.17756|0.17756	1.776000|1.776000	0.38594|0.38594	0.833000|0.833000	0.34828|0.34828	0.455000|0.455000	0.32223|0.32223	CCA|TCC		0.652	FCRLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083585.1	NM_152378		11	36	1	0	0.000673444	0.000715133	11	36				
FCRLB	127943	broad.mit.edu	37	1	161697178	161697178	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr1:161697178C>T	ENST00000367948.2	+	8	1222	c.1007C>T	c.(1006-1008)tCc>tTc	p.S336F	FCRLB_ENST00000367944.3_3'UTR|FCRLB_ENST00000367946.3_Missense_Mutation_p.P288S|FCRLB_ENST00000392158.1_Missense_Mutation_p.S336F|FCRLB_ENST00000367945.1_Missense_Mutation_p.P281S|FCRLB_ENST00000336830.5_3'UTR|FCRLB_ENST00000495397.1_3'UTR			Q6BAA4	FCRLB_HUMAN	Fc receptor-like B	336					negative regulation of immune response (GO:0050777)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|skin(1)	17	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			AACACCACCTCCACCGGGCTG	0.692																																						uc001gbh.2		NA																	0					0						c.(1006-1008)TCC>TTC		Fc receptor-like B							18.0	20.0	20.0					1																	161697178		2197	4287	6484	SO:0001583	missense	127943					endoplasmic reticulum		g.chr1:161697178C>T	AY670683	CCDS30927.1, CCDS72962.1, CCDS72963.1, CCDS72964.1, CCDS72965.1	1q23.3	2013-01-11	2006-09-26	2006-09-26	ENSG00000162746	ENSG00000162746		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26431	protein-coding gene	gene with protein product		609251	"""Fc receptor-like and mucin-like 2"""	FCRLM2		15676285	Standard	NM_001288829		Approved	FLJ31052, FCRL2, FREB-2, FCRLY	uc001gbi.3	Q6BAA4	OTTHUMG00000133629	ENST00000367948.2:c.1007C>T	1.37:g.161697178C>T	ENSP00000356925:p.Ser336Phe					FCRLB_uc009wus.2_Missense_Mutation_p.S336F|FCRLB_uc001gbj.2_Missense_Mutation_p.P288S|FCRLB_uc001gbk.2_3'UTR|FCRLB_uc001gbl.2_Missense_Mutation_p.P281S|FCRLB_uc001gbm.2_3'UTR|FCRLB_uc001gbi.2_Missense_Mutation_p.S336F|FCRLB_uc001gbn.3_3'UTR	p.S336F	NM_001002901	NP_001002901	Q6BAA4	FCRLB_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00634)		8	1241	+	all_hematologic(112;0.0359)		336					A2A3J5|A2A3J7|Q5VXA6|Q6BAA0|Q6BAA1|Q6BAA2|Q6BAA3|Q8IXZ7	Missense_Mutation	SNP	ENST00000367948.2	37	c.1007C>T	CCDS30927.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.644|4.644	0.119638|0.119638	0.08881|0.08881	.|.	.|.	ENSG00000162746|ENSG00000162746	ENST00000367946;ENST00000367945|ENST00000367948;ENST00000392158	T;T|D;D	0.01902|0.96685	4.57;4.59|-4.09;-4.09	4.27|4.27	1.04|1.04	0.20106|0.20106	.|.	.|1.627630	.|0.03675	.|N	.|0.244667	D|D	0.86855|0.86855	0.6033|0.6033	L|L	0.31926|0.31926	0.97|0.97	0.09310|0.09310	N|N	1|1	B;B|B	0.19200|0.06786	0.034;0.034|0.001	B;B|B	0.19946|0.04013	0.027;0.027|0.001	T|T	0.78435|0.78435	-0.2205|-0.2205	9|10	0.27785|0.48119	T|T	0.31|0.1	.|.	5.2023|5.2023	0.15271|0.15271	0.0:0.5806:0.0:0.4194|0.0:0.5806:0.0:0.4194	.|.	281;288|336	Q6BAA4-5;Q6BAA4-4|Q6BAA4	.;.|FCRLB_HUMAN	S|F	288;281|336	ENSP00000356923:P288S;ENSP00000356922:P281S|ENSP00000356925:S336F;ENSP00000375999:S336F	ENSP00000356922:P281S|ENSP00000356925:S336F	P|S	+|+	1|2	0|0	FCRLB|FCRLB	159963802|159963802	0.169000|0.169000	0.23002|0.23002	0.039000|0.039000	0.18376|0.18376	0.410000|0.410000	0.31052|0.31052	0.335000|0.335000	0.19806|0.19806	0.416000|0.416000	0.25844|0.25844	0.455000|0.455000	0.32223|0.32223	CCA|TCC		0.692	FCRLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083585.1	NM_152378		16	30	0	0	0	0	16	30				
BRINP2	57795	broad.mit.edu	37	1	177249883	177249883	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr1:177249883G>A	ENST00000361539.4	+	8	1883	c.1571G>A	c.(1570-1572)cGc>cAc	p.R524H	BRINP2_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	BRNP2_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 2	524					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	extracellular region (GO:0005576)		p.R524H(1)									CAGGATAGCCGCATTGAGGTA	0.567																																						uc001glf.2		NA																	1	Substitution - Missense(1)	p.R524H(1)	upper_aerodigestive_tract(1)	skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6						c.(1570-1572)CGC>CAC		family with sequence similarity 5, member B							42.0	38.0	40.0					1																	177249883		2203	4300	6503	SO:0001583	missense	57795					extracellular region		g.chr1:177249883G>A		CCDS1320.1	1q24	2013-08-06	2013-08-06	2013-07-31	ENSG00000198797	ENSG00000198797			13746	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member B"""	FAM5B		15193423	Standard	NM_021165		Approved	DBCCR1L2	uc001glf.3	Q9C0B6	OTTHUMG00000034953	ENST00000361539.4:c.1571G>A	1.37:g.177249883G>A	ENSP00000354481:p.Arg524His					FAM5B_uc001glg.2_Missense_Mutation_p.R419H	p.R524H	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN			8	1883	+			524					O95560|Q6ZWC1|Q7LCZ9|Q8N360	Missense_Mutation	SNP	ENST00000361539.4	37	c.1571G>A	CCDS1320.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.147035	0.77888	.	.	ENSG00000198797	ENST00000536589;ENST00000361539	T	0.56444	0.46	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.74673	0.3747	M	0.79475	2.455	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.994	T	0.77958	-0.2392	10	0.87932	D	0	-20.1931	18.6898	0.91578	0.0:0.0:1.0:0.0	.	419;524	Q9C0B6-2;Q9C0B6	.;FAM5B_HUMAN	H	277;524	ENSP00000354481:R524H	ENSP00000354481:R524H	R	+	2	0	FAM5B	175516506	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	9.731000	0.98807	2.514000	0.84764	0.313000	0.20887	CGC		0.567	BRINP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084599.1	NM_021165		13	22	0	0	0	0	13	22				
CACNA1E	777	broad.mit.edu	37	1	181701838	181701838	+	Silent	SNP	C	C	T			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr1:181701838C>T	ENST00000367573.2	+	20	2616	c.2616C>T	c.(2614-2616)acC>acT	p.T872T	CACNA1E_ENST00000360108.3_Silent_p.T853T|CACNA1E_ENST00000367570.1_Silent_p.T872T|CACNA1E_ENST00000358338.5_Silent_p.T804T|CACNA1E_ENST00000526775.1_Silent_p.T853T|CACNA1E_ENST00000367567.4_Silent_p.T479T|CACNA1E_ENST00000357570.5_Silent_p.T823T	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	872					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						ACCAGAGGACCCCTTTGTCCC	0.672																																						uc001gow.2		NA																	0				ovary(3)|central_nervous_system(2)|pancreas(1)	6						c.(2614-2616)ACC>ACT		calcium channel, voltage-dependent, R type,							18.0	22.0	21.0					1																	181701838		1977	4151	6128	SO:0001819	synonymous_variant	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181701838C>T	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.2616C>T	1.37:g.181701838C>T						CACNA1E_uc009wxs.2_Silent_p.T760T|CACNA1E_uc001gox.1_Silent_p.T98T|CACNA1E_uc009wxt.2_Silent_p.T98T	p.T872T	NM_000721	NP_000712	Q15878	CAC1E_HUMAN			20	2781	+			872			Cytoplasmic (Potential).		B1AM12|B1AM13|B1AM14|Q14580|Q14581	Silent	SNP	ENST00000367573.2	37	c.2616C>T	CCDS55664.1																																																																																				0.672	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		10	14	0	0	0	0	10	14				
FMN2	56776	broad.mit.edu	37	1	240370958	240370958	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr1:240370958C>G	ENST00000319653.9	+	5	3076	c.2846C>G	c.(2845-2847)cCc>cGc	p.P949R		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	949	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCCCCTCTACCCGGAGCGGCA	0.697																																						uc010pyd.1		NA																	0				ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12						c.(2845-2847)CCC>CGC		formin 2							25.0	29.0	28.0					1																	240370958		2201	4297	6498	SO:0001583	missense	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240370958C>G	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.2846C>G	1.37:g.240370958C>G	ENSP00000318884:p.Pro949Arg					FMN2_uc010pye.1_Missense_Mutation_p.P953R	p.P949R	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		5	3071	+	Ovarian(103;0.127)	all_cancers(173;0.013)	949			Pro-rich.|FH1.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	c.2846C>G	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	C	9.533	1.111302	0.20714	.	.	ENSG00000155816	ENST00000319653	T	0.57595	0.39	4.17	4.17	0.49024	Actin-binding FH2/DRF autoregulatory (1);Formin Homology 1 (1);	.	.	.	.	T	0.75997	0.3926	M	0.91459	3.21	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	T	0.81261	-0.1013	8	.	.	.	.	12.3057	0.54900	0.0:1.0:0.0:0.0	.	949	Q9NZ56	FMN2_HUMAN	R	949	ENSP00000318884:P949R	.	P	+	2	0	FMN2	238437581	0.009000	0.17119	0.058000	0.19502	0.001000	0.01503	2.338000	0.43957	2.350000	0.79820	0.472000	0.43445	CCC		0.697	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		5	20	0	0	0	0	5	20				
PRDM11	56981	broad.mit.edu	37	11	45246383	45246383	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr11:45246383C>T	ENST00000530656.1	+	7	1460	c.1460C>T	c.(1459-1461)tCg>tTg	p.S487L	CTD-2560E9.3_ENST00000527450.1_RNA|PRDM11_ENST00000424263.2_Missense_Mutation_p.S453L|PRDM11_ENST00000263765.4_Missense_Mutation_p.S487L|PRDM11_ENST00000528980.1_Intron			Q9NQV5	PRD11_HUMAN	PR domain containing 11	487							methyltransferase activity (GO:0008168)	p.S487L(1)		endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						CCAGAGTTCTCGGACCCTGCA	0.542																																					NSCLC(118;1511 1736 6472 36603 43224)	uc001myo.2		NA																	1	Substitution - Missense(1)	p.S487L(1)	upper_aerodigestive_tract(1)	upper_aerodigestive_tract(1)	1						c.(1459-1461)TCG>TTG		PR domain containing 11							68.0	73.0	71.0					11																	45246383		2203	4299	6502	SO:0001583	missense	56981							g.chr11:45246383C>T	AF275818	CCDS58130.1, CCDS73277.1	11p11	2008-07-21			ENSG00000019485	ENSG00000019485			13996	protein-coding gene	gene with protein product	"""PR-domain containing protein 11"""						Standard	NM_001256695		Approved	PFM8	uc031qab.1	Q9NQV5	OTTHUMG00000166478	ENST00000530656.1:c.1460C>T	11.37:g.45246383C>T	ENSP00000435976:p.Ser487Leu						p.S487L	NM_020229	NP_064614	Q9NQV5	PRD11_HUMAN			8	1709	+			487					Q8N9F1	Missense_Mutation	SNP	ENST00000530656.1	37	c.1460C>T		.	.	.	.	.	.	.	.	.	.	C	23.3	4.399885	0.83120	.	.	ENSG00000019485	ENST00000263765;ENST00000530656;ENST00000424263	T;T;T	0.28895	1.59;1.59;1.62	5.68	5.68	0.88126	.	0.000000	0.48767	D	0.000174	T	0.22126	0.0533	N	0.24115	0.695	0.34808	D	0.737395	P	0.43314	0.803	B	0.31290	0.127	T	0.32587	-0.9901	10	0.87932	D	0	-4.3131	19.7959	0.96481	0.0:1.0:0.0:0.0	.	487	Q9NQV5	PRD11_HUMAN	L	487;487;453	ENSP00000263765:S487L;ENSP00000435976:S487L;ENSP00000394314:S453L	ENSP00000263765:S487L	S	+	2	0	PRDM11	45202959	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	4.184000	0.58323	2.689000	0.91719	0.655000	0.94253	TCG		0.542	PRDM11-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000389928.1	NM_020229		30	68	0	0	0	0	30	68				
OR4A15	81328	broad.mit.edu	37	11	55135388	55135388	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr11:55135388T>A	ENST00000314706.3	+	1	29	c.29T>A	c.(28-30)tTt>tAt	p.F10Y		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	10						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						AATCTCAAATTTATCACTGAC	0.408																																						uc010rif.1		NA																	0				ovary(1)|skin(1)	2						c.(28-30)TTT>TAT		olfactory receptor, family 4, subfamily A,							53.0	47.0	49.0					11																	55135388		2201	4296	6497	SO:0001583	missense	81328				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55135388T>A	AB065776	CCDS31500.1	11q11	2012-08-09			ENSG00000181958	ENSG00000181958		"""GPCR / Class A : Olfactory receptors"""	15152	protein-coding gene	gene with protein product							Standard	NM_001005275		Approved		uc010rif.2	Q8NGL6	OTTHUMG00000166711	ENST00000314706.3:c.29T>A	11.37:g.55135388T>A	ENSP00000325065:p.Phe10Tyr						p.F10Y	NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN			1	29	+			10			Extracellular (Potential).		Q6IFL4|Q96R65	Missense_Mutation	SNP	ENST00000314706.3	37	c.29T>A	CCDS31500.1	.	.	.	.	.	.	.	.	.	.	t	7.264	0.605738	0.14002	.	.	ENSG00000181958	ENST00000314706	T	0.18016	2.24	2.54	1.21	0.21127	.	.	.	.	.	T	0.05777	0.0151	N	0.08118	0	0.09310	N	1	B	0.27594	0.182	B	0.18263	0.021	T	0.38373	-0.9664	9	0.07482	T	0.82	.	4.2682	0.10773	0.3043:0.0:0.0:0.6957	.	10	Q8NGL6	O4A15_HUMAN	Y	10	ENSP00000325065:F10Y	ENSP00000325065:F10Y	F	+	2	0	OR4A15	54891964	0.000000	0.05858	0.004000	0.12327	0.047000	0.14425	-0.303000	0.08210	1.178000	0.42870	0.403000	0.27427	TTT		0.408	OR4A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391161.1	NM_001005275		7	43	0	0	0	0	7	43				
GLYAT	10249	broad.mit.edu	37	11	58478154	58478154	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr11:58478154G>A	ENST00000344743.3	-	5	538	c.397C>T	c.(397-399)Ctc>Ttc	p.L133F	GLYAT_ENST00000278400.3_Missense_Mutation_p.L133F|GLYAT_ENST00000529732.1_Missense_Mutation_p.L133F	NM_201648.2	NP_964011.2	Q6IB77	GLYAT_HUMAN	glycine-N-acyltransferase	133					acyl-CoA metabolic process (GO:0006637)|glycine metabolic process (GO:0006544)|monocarboxylic acid metabolic process (GO:0032787)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	glycine N-acyltransferase activity (GO:0047961)|glycine N-benzoyltransferase activity (GO:0047962)|transferase activity, transferring acyl groups (GO:0016746)			NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)	GCCATATAGAGAATGCGTTGT	0.428																																						uc001nnb.2		NA																	0					0						c.(397-399)CTC>TTC		glycine-N-acyltransferase isoform a	Glycine(DB00145)						168.0	153.0	158.0					11																	58478154		2201	4295	6496	SO:0001583	missense	10249				acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process	mitochondrial matrix	glycine N-acyltransferase activity|glycine N-benzoyltransferase activity	g.chr11:58478154G>A	AF023466	CCDS7970.1, CCDS7971.1	11q12.1	2008-03-11					2.3.1.13		13734	protein-coding gene	gene with protein product		607424					Standard	NM_201648		Approved	GAT, ACGNAT	uc001nnb.3	Q6IB77		ENST00000344743.3:c.397C>T	11.37:g.58478154G>A	ENSP00000340200:p.Leu133Phe					GLYAT_uc001nnc.2_Missense_Mutation_p.L133F	p.L133F	NM_201648	NP_964011	Q6IB77	GLYAT_HUMAN			5	552	-		Breast(21;0.0044)|all_epithelial(135;0.0157)	133					O14833|Q96QK7	Missense_Mutation	SNP	ENST00000344743.3	37	c.397C>T	CCDS7970.1	.	.	.	.	.	.	.	.	.	.	G	17.30	3.355453	0.61293	.	.	ENSG00000149124	ENST00000344743;ENST00000529732;ENST00000278400	T;T;T	0.26660	1.72;1.72;1.72	5.88	4.95	0.65309	Acyl-CoA N-acyltransferase (1);Glycine N-acyltransferase, N-terminal (1);	0.066407	0.64402	D	0.000010	T	0.49779	0.1577	M	0.78637	2.42	0.28956	N	0.890122	D;D	0.67145	0.995;0.996	D;D	0.68943	0.951;0.961	T	0.53415	-0.8442	10	0.72032	D	0.01	-37.2065	12.245	0.54566	0.0:0.0:0.8302:0.1698	.	133;133	Q6IB77-2;Q6IB77	.;GLYAT_HUMAN	F	133	ENSP00000340200:L133F;ENSP00000431688:L133F;ENSP00000278400:L133F	ENSP00000278400:L133F	L	-	1	0	GLYAT	58234730	0.999000	0.42202	0.098000	0.21074	0.024000	0.10985	4.431000	0.59915	1.436000	0.47453	0.655000	0.94253	CTC		0.428	GLYAT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394593.1			32	87	0	0	0	0	32	87				
ATG2A	23130	broad.mit.edu	37	11	64665596	64665596	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr11:64665596C>T	ENST00000377264.3	-	34	4932	c.4820G>A	c.(4819-4821)gGc>gAc	p.G1607D	ATG2A_ENST00000421419.2_Missense_Mutation_p.G1609D	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1607					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						GGGGTTGATGCCGGCCACCAG	0.627											OREG0004029	type=REGULATORY REGION|Gene=BC033850|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										uc001obx.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(4819-4821)GGC>GAC		autophagy related 2A							67.0	77.0	74.0					11																	64665596		2201	4297	6498	SO:0001583	missense	23130						protein binding	g.chr11:64665596C>T		CCDS31602.1	11q13.1	2014-02-12	2012-06-06		ENSG00000110046	ENSG00000110046			29028	protein-coding gene	gene with protein product			"""ATG2 autophagy related 2 homolog A (S. cerevisiae)"""			21887408	Standard	NM_015104		Approved	KIAA0404	uc001obx.3	Q2TAZ0	OTTHUMG00000066831	ENST00000377264.3:c.4820G>A	11.37:g.64665596C>T	ENSP00000366475:p.Gly1607Asp		OREG0004029	type=REGULATORY REGION|Gene=BC033850|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1078	ATG2A_uc001obw.2_Missense_Mutation_p.G372D	p.G1607D	NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN			34	4935	-			1607					O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Missense_Mutation	SNP	ENST00000377264.3	37	c.4820G>A	CCDS31602.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.851557	0.00563	.	.	ENSG00000110046	ENST00000421419;ENST00000377264	T;T	0.07114	3.22;3.22	4.9	2.97	0.34412	.	0.690344	0.13762	N	0.364535	T	0.04588	0.0125	N	0.19112	0.55	0.31030	N	0.717541	B;P	0.35575	0.376;0.51	B;B	0.35413	0.1;0.202	T	0.16958	-1.0385	10	0.02654	T	1	.	8.455	0.32893	0.0:0.7566:0.1557:0.0877	.	1607;1609	Q2TAZ0;Q2TAZ0-3	ATG2A_HUMAN;.	D	1609;1607	ENSP00000410522:G1609D;ENSP00000366475:G1607D	ENSP00000366475:G1607D	G	-	2	0	ATG2A	64422172	0.178000	0.23122	0.226000	0.23910	0.023000	0.10783	0.843000	0.27640	0.559000	0.29153	-0.258000	0.10820	GGC		0.627	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000143224.1	NM_015104		4	143	0	0	0	0	4	143				
TIGD3	220359	broad.mit.edu	37	11	65123651	65123651	+	Silent	SNP	G	G	A			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr11:65123651G>A	ENST00000309880.5	+	2	579	c.372G>A	c.(370-372)ctG>ctA	p.L124L		NM_145719.2	NP_663771.1	Q6B0B8	TIGD3_HUMAN	tigger transposable element derived 3	124	HTH CENPB-type. {ECO:0000255|PROSITE- ProRule:PRU00583}.					nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						TCGGCTGGCTGGTCCGCTGGA	0.662																																						uc001odo.3		NA																	0					0						c.(370-372)CTG>CTA		tigger transposable element derived 3							41.0	44.0	43.0					11																	65123651		2201	4297	6498	SO:0001819	synonymous_variant	220359				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding	g.chr11:65123651G>A		CCDS8101.1	11q13.1	2008-07-21				ENSG00000173825			18334	protein-coding gene	gene with protein product							Standard	NM_145719		Approved		uc001odo.4	Q6B0B8		ENST00000309880.5:c.372G>A	11.37:g.65123651G>A							p.L124L	NM_145719	NP_663771	Q6B0B8	TIGD3_HUMAN			2	535	+			124			H-T-H motif (By similarity).|HTH CENPB-type.			Silent	SNP	ENST00000309880.5	37	c.372G>A	CCDS8101.1																																																																																				0.662	TIGD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387310.1	NM_145719		11	42	0	0	0	0	11	42				
PCNXL3	399909	broad.mit.edu	37	11	65393198	65393198	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr11:65393198G>A	ENST00000355703.3	+	19	3750	c.3211G>A	c.(3211-3213)Gtc>Atc	p.V1071I		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1071						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						CGCCAGCACCGTCTTTATTGC	0.627											OREG0021084	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001oey.2		NA																	0					0						c.(3211-3213)GTC>ATC		pecanex-like 3							56.0	54.0	55.0					11																	65393198		2178	4277	6455	SO:0001583	missense	399909					integral to membrane		g.chr11:65393198G>A	BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539	ENST00000355703.3:c.3211G>A	11.37:g.65393198G>A	ENSP00000347931:p.Val1071Ile		OREG0021084	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1083	PCNXL3_uc009yqn.2_Missense_Mutation_p.V31I|PCNXL3_uc001oez.2_5'Flank	p.V1071I	NM_032223	NP_115599	Q9H6A9	PCX3_HUMAN			19	3211	+			1071			Helical; (Potential).		Q6MZN8	Missense_Mutation	SNP	ENST00000355703.3	37	c.3211G>A	CCDS44650.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.271452	0.80469	.	.	ENSG00000197136	ENST00000355703	T	0.11169	2.8	5.34	5.34	0.76211	.	.	.	.	.	T	0.33440	0.0863	M	0.74546	2.27	0.53688	D	0.999977	D	0.69078	0.997	D	0.68621	0.959	T	0.03566	-1.1024	9	0.72032	D	0.01	.	16.5427	0.84406	0.0:0.0:1.0:0.0	.	1071	Q9H6A9	PCX3_HUMAN	I	1071	ENSP00000347931:V1071I	ENSP00000347931:V1071I	V	+	1	0	PCNXL3	65149774	1.000000	0.71417	0.989000	0.46669	0.307000	0.27823	9.216000	0.95154	2.522000	0.85027	0.655000	0.94253	GTC		0.627	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390321.1	NM_032223		7	14	0	0	0	0	7	14				
SART1	9092	broad.mit.edu	37	11	65735028	65735028	+	Missense_Mutation	SNP	G	G	A	rs538739713	byFrequency	TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr11:65735028G>A	ENST00000312397.5	+	11	1492	c.1400G>A	c.(1399-1401)cGa>cAa	p.R467Q		NM_005146.4	NP_005137.1	O43290	SNUT1_HUMAN	squamous cell carcinoma antigen recognized by T cells	467					cell cycle arrest (GO:0007050)|intrinsic apoptotic signaling pathway (GO:0097193)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of cytotoxic T cell differentiation (GO:0045585)|spliceosomal snRNP assembly (GO:0000387)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GACGACACCCGAGTGGAGAAC	0.682																																						uc001ogl.2		NA																	0				ovary(1)	1						c.(1399-1401)CGA>CAA		squamous cell carcinoma antigen recognized by T							26.0	27.0	27.0					11																	65735028		2201	4295	6496	SO:0001583	missense	9092				cell cycle arrest|induction of apoptosis by intracellular signals|positive regulation of cytotoxic T cell differentiation|spliceosomal snRNP assembly	Cajal body|catalytic step 2 spliceosome|cytosol		g.chr11:65735028G>A	AB006198	CCDS31611.1	11q13.1	2009-01-06	2006-12-07		ENSG00000175467	ENSG00000175467			10538	protein-coding gene	gene with protein product	"""small nuclear ribonucleoprotein 110kDa (U4/U6.U5)"""	605941	"""squamous cell carcinoma antigen recognised by T cells"""			9449708	Standard	NM_005146		Approved	Ara1, Snu66, SNRNP110	uc001ogl.3	O43290	OTTHUMG00000166771	ENST00000312397.5:c.1400G>A	11.37:g.65735028G>A	ENSP00000310448:p.Arg467Gln						p.R467Q	NM_005146	NP_005137	O43290	SNUT1_HUMAN			11	1492	+			467					A6NDN1|Q53GB5	Missense_Mutation	SNP	ENST00000312397.5	37	c.1400G>A	CCDS31611.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.263145	0.80358	.	.	ENSG00000175467	ENST00000312397;ENST00000542816	T	0.25579	1.79	5.26	3.36	0.38483	.	0.000000	0.64402	D	0.000003	T	0.19327	0.0464	L	0.39514	1.22	0.45415	D	0.998391	P	0.48294	0.908	B	0.40329	0.326	T	0.02391	-1.1166	10	0.87932	D	0	-8.9525	7.5641	0.27868	0.0878:0.0:0.7448:0.1674	.	467	O43290	SNUT1_HUMAN	Q	467;309	ENSP00000310448:R467Q	ENSP00000310448:R467Q	R	+	2	0	SART1	65491604	0.803000	0.28956	0.566000	0.28421	0.845000	0.48019	4.030000	0.57260	1.200000	0.43188	0.491000	0.48974	CGA		0.682	SART1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391409.1			10	20	0	0	0	0	10	20				
MAP6	4135	broad.mit.edu	37	11	75298616	75298616	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr11:75298616G>A	ENST00000304771.3	-	4	2680	c.1930C>T	c.(1930-1932)Cca>Tca	p.P644S	CTD-2530H12.4_ENST00000527803.1_RNA|MAP6_ENST00000526689.1_5'Flank|MAP6_ENST00000526740.1_Missense_Mutation_p.P315S	NM_033063.1	NP_149052.1	Q96JE9	MAP6_HUMAN	microtubule-associated protein 6	644	Pro-rich.				dendrite morphogenesis (GO:0048813)|lysosome localization (GO:0032418)|microtubule cytoskeleton organization (GO:0000226)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19	Ovarian(111;0.11)					GGATGCTCTGGGACCATGGGA	0.517																																					Esophageal Squamous(181;1115 2007 8647 17065 22697)	uc001owu.2		NA																	0					0						c.(1930-1932)CCA>TCA		microtubule-associated protein 6 isoform 1							164.0	149.0	154.0					11																	75298616		2200	4293	6493	SO:0001583	missense	4135					Golgi apparatus|microtubule|perinuclear region of cytoplasm	calmodulin binding	g.chr11:75298616G>A	AK123340	CCDS31641.1, CCDS44686.1	11q13.5	2005-10-11			ENSG00000171533	ENSG00000171533			6868	protein-coding gene	gene with protein product		601783				10516426, 12231625	Standard	NM_207577		Approved	KIAA1878, STOP, FLJ41346	uc001owu.3	Q96JE9	OTTHUMG00000165343	ENST00000304771.3:c.1930C>T	11.37:g.75298616G>A	ENSP00000307093:p.Pro644Ser						p.P644S	NM_033063	NP_149052	Q96JE9	MAP6_HUMAN			4	1995	-	Ovarian(111;0.11)		644			Pro-rich.		A7E2A1|Q6P3T0|Q6ZWB8	Missense_Mutation	SNP	ENST00000304771.3	37	c.1930C>T	CCDS31641.1	.	.	.	.	.	.	.	.	.	.	G	12.65	2.002315	0.35320	.	.	ENSG00000171533	ENST00000304771;ENST00000526740;ENST00000545476	T	0.43688	0.94	4.68	2.81	0.32909	.	0.461649	0.18641	N	0.135289	T	0.28928	0.0718	N	0.26130	0.795	0.80722	D	1	B	0.17038	0.02	B	0.14578	0.011	T	0.07868	-1.0750	10	0.56958	D	0.05	-0.2214	9.2744	0.37690	0.1831:0.0:0.8169:0.0	.	644	Q96JE9	MAP6_HUMAN	S	644;315;315	ENSP00000307093:P644S	ENSP00000307093:P644S	P	-	1	0	MAP6	74976264	0.000000	0.05858	0.745000	0.31077	0.223000	0.24884	-0.324000	0.07986	0.678000	0.31325	0.563000	0.77884	CCA		0.517	MAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383527.1	NM_033063		44	138	0	0	0	0	44	138				
UBE4A	9354	broad.mit.edu	37	11	118243810	118243810	+	Missense_Mutation	SNP	A	A	C	rs111254610		TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr11:118243810A>C	ENST00000431736.2	+	7	824	c.752A>C	c.(751-753)gAt>gCt	p.D251A	UBE4A_ENST00000252108.3_Missense_Mutation_p.D244A					ubiquitination factor E4A									p.D251A(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		GATTTTGAAGATGTAACTGAG	0.333																																						uc001psw.2		NA																	1	Substitution - Missense(1)	p.D251A(1)	upper_aerodigestive_tract(1)	ovary(2)|upper_aerodigestive_tract(1)|breast(1)|kidney(1)	5						c.(730-732)GAT>GCT		ubiquitination factor E4A		A	ALA/ASP,ALA/ASP	1,4399	2.1+/-5.4	0,1,2199	94.0	91.0	92.0		731,752	4.9	1.0	11	dbSNP_132	92	0,8592		0,0,4296	no	missense,missense	UBE4A	NM_001204077.1,NM_004788.3	126,126	0,1,6495	CC,CA,AA		0.0,0.0227,0.0077	benign,benign	244/1067,251/1074	118243810	1,12991	2200	4296	6496	SO:0001583	missense	9354				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding	g.chr11:118243810A>C	D50916	CCDS8396.1, CCDS55790.1	11q23.3	2013-01-28	2011-05-19					"""U-box domain containing"""	12499	protein-coding gene	gene with protein product		603753	"""ubiquitination factor E4A (homologous to yeast UFD2)"", ""ubiquitination factor E4A (UFD2 homolog, yeast)"""			10089879	Standard	NM_004788		Approved	UBOX2, UFD2, KIAA0126, E4	uc001psv.3	Q14139	OTTHUMG00000168100	ENST00000431736.2:c.752A>C	11.37:g.118243810A>C	ENSP00000387362:p.Asp251Ala					UBE4A_uc001psv.2_Missense_Mutation_p.D251A	p.D244A	NM_004788	NP_004779	Q14139	UBE4A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)	7	860	+	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)	244						Missense_Mutation	SNP	ENST00000431736.2	37	c.731A>C	CCDS8396.1	.	.	.	.	.	.	.	.	.	.	A	15.10	2.732708	0.48939	2.27E-4	0.0	ENSG00000110344	ENST00000252108;ENST00000431736	T;T	0.39592	1.07;1.07	6.04	4.93	0.64822	.	0.196363	0.53938	D	0.000047	T	0.21427	0.0516	N	0.08118	0	0.80722	D	1	B;B	0.23249	0.022;0.082	B;B	0.25140	0.006;0.058	T	0.06006	-1.0851	10	0.08599	T	0.76	-4.1489	11.1061	0.48203	0.9265:0.0:0.0735:0.0	.	244;251	Q14139;Q14139-2	UBE4A_HUMAN;.	A	244;251	ENSP00000252108:D244A;ENSP00000387362:D251A	ENSP00000252108:D244A	D	+	2	0	UBE4A	117749020	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.124000	0.77185	1.128000	0.42052	0.460000	0.39030	GAT		0.333	UBE4A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398143.1	NM_004788		11	24	0	0	0	0	11	24				
NELL2	4753	broad.mit.edu	37	12	45170851	45170851	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr12:45170851C>G	ENST00000429094.2	-	7	1240	c.736G>C	c.(736-738)Gat>Cat	p.D246H	NELL2_ENST00000333837.4_Missense_Mutation_p.D269H|NELL2_ENST00000551601.1_Missense_Mutation_p.D245H|NELL2_ENST00000437801.2_Missense_Mutation_p.D296H|NELL2_ENST00000547172.1_5'Flank|NELL2_ENST00000549027.1_Missense_Mutation_p.D245H|NELL2_ENST00000395487.2_Missense_Mutation_p.D245H|NELL2_ENST00000452445.2_Missense_Mutation_p.D246H	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	246						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.D246H(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		GCTAAAATATCCTGTAGCTCC	0.378																																						uc001rog.2		NA																	1	Substitution - Missense(1)	p.D246H(1)	upper_aerodigestive_tract(1)	skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4						c.(736-738)GAT>CAT		NEL-like protein 2 isoform b precursor							156.0	148.0	151.0					12																	45170851		2203	4300	6503	SO:0001583	missense	4753				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity	g.chr12:45170851C>G	D83018	CCDS8746.1, CCDS44863.1, CCDS44864.1, CCDS53781.1	12q12	2012-01-30	2001-11-28		ENSG00000184613	ENSG00000184613			7751	protein-coding gene	gene with protein product		602320	"""nel (chicken)-like 2"""			19249368	Standard	NM_006159		Approved	NRP2	uc010skz.1	Q99435	OTTHUMG00000169464	ENST00000429094.2:c.736G>C	12.37:g.45170851C>G	ENSP00000390680:p.Asp246His					NELL2_uc001rof.3_Missense_Mutation_p.D245H|NELL2_uc001roh.2_Missense_Mutation_p.D246H|NELL2_uc009zkd.2_Missense_Mutation_p.D245H|NELL2_uc010skz.1_Missense_Mutation_p.D296H|NELL2_uc010sla.1_Missense_Mutation_p.D269H|NELL2_uc001roi.1_Missense_Mutation_p.D246H|NELL2_uc010slb.1_Missense_Mutation_p.D245H|NELL2_uc001roj.2_Missense_Mutation_p.D246H	p.D246H	NM_001145108	NP_001138580	Q99435	NELL2_HUMAN		GBM - Glioblastoma multiforme(48;0.092)	7	1331	-	Lung SC(27;0.192)	Lung NSC(34;0.144)	246			TSP N-terminal.		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	ENST00000429094.2	37	c.736G>C	CCDS8746.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.225845	0.79576	.	.	ENSG00000184613	ENST00000395487;ENST00000429094;ENST00000551601;ENST00000452445;ENST00000549027;ENST00000333837;ENST00000437801;ENST00000543684;ENST00000550462;ENST00000552993	D;D;T;D;D;D;D;T;T	0.82619	-1.57;-1.55;-1.27;-1.55;-1.57;-1.51;-1.63;1.71;2.68	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.90758	0.7099	M	0.72479	2.2	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.997;0.999;1.0;0.999;0.997	D;D;D;D;D;D	0.80764	0.981;0.928;0.959;0.994;0.91;0.928	D	0.89698	0.3903	10	0.44086	T	0.13	-24.2472	19.6568	0.95845	0.0:1.0:0.0:0.0	.	269;296;245;246;246;245	B7Z2U7;B7Z9U3;F8VVB6;B3KTI3;Q99435;Q96JS2	.;.;.;.;NELL2_HUMAN;.	H	245;246;245;246;245;269;296;245;19;246	ENSP00000378866:D245H;ENSP00000390680:D246H;ENSP00000449332:D245H;ENSP00000394612:D246H;ENSP00000447927:D245H;ENSP00000327988:D269H;ENSP00000416341:D296H;ENSP00000450102:D19H;ENSP00000447085:D246H	ENSP00000327988:D269H	D	-	1	0	NELL2	43457118	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.656000	0.90262	0.650000	0.86243	GAT		0.378	NELL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404180.1	NM_006159		12	49	0	0	0	0	12	49				
ARID2	196528	broad.mit.edu	37	12	46244616	46244616	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr12:46244616C>T	ENST00000334344.6	+	15	2882	c.2710C>T	c.(2710-2712)Cag>Tag	p.Q904*	ARID2_ENST00000457135.1_5'Flank|ARID2_ENST00000444670.1_Nonsense_Mutation_p.Q514*|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Nonsense_Mutation_p.Q755*	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	904	Gln-rich.				chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q904*(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TCTCCCTTCTCAGCAAGTTTC	0.483			"""N, S, F"""		hepatocellular carcinoma																																	uc001ros.1		NA		Rec	yes		12	12q12	196528		AT rich interactive domain 2			E					1	Substitution - Nonsense(1)	p.Q904*(1)	upper_aerodigestive_tract(1)	ovary(6)|skin(3)|upper_aerodigestive_tract(1)	10						c.(2710-2712)CAG>TAG		AT rich interactive domain 2 (ARID, RFX-like)							130.0	116.0	121.0					12																	46244616		2203	4300	6503	SO:0001587	stop_gained	196528				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46244616C>T		CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.2710C>T	12.37:g.46244616C>T	ENSP00000335044:p.Gln904*					ARID2_uc001ror.2_Nonsense_Mutation_p.Q904*|ARID2_uc009zkg.1_Nonsense_Mutation_p.Q360*|ARID2_uc009zkh.1_Nonsense_Mutation_p.Q531*|ARID2_uc001rou.1_Nonsense_Mutation_p.Q238*	p.Q904*	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	15	2710	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	904			Gln-rich.		Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Nonsense_Mutation	SNP	ENST00000334344.6	37	c.2710C>T	CCDS31783.1	.	.	.	.	.	.	.	.	.	.	C	43	9.860919	0.99281	.	.	ENSG00000189079	ENST00000334344;ENST00000422737;ENST00000444670	.	.	.	5.54	5.54	0.83059	.	0.157739	0.64402	D	0.000020	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	-3.826	19.4665	0.94945	0.0:1.0:0.0:0.0	.	.	.	.	X	904;755;514	.	ENSP00000335044:Q904X	Q	+	1	0	ARID2	44530883	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.763000	0.74955	2.612000	0.88384	0.561000	0.74099	CAG		0.483	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875		16	63	0	0	0	0	16	63				
PAN2	9924	broad.mit.edu	37	12	56720656	56720656	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr12:56720656A>T	ENST00000425394.2	-	7	1383	c.1007T>A	c.(1006-1008)tTt>tAt	p.F336Y	PAN2_ENST00000548043.1_Missense_Mutation_p.F336Y|PAN2_ENST00000257931.5_Missense_Mutation_p.F336Y|PAN2_ENST00000440411.3_Missense_Mutation_p.F336Y	NM_001127460.2	NP_001120932	Q9HBH5	RDH14_HUMAN	PAN2 poly(A) specific ribonuclease subunit	0					osteoblast differentiation (GO:0001649)	endoplasmic reticulum (GO:0005783)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41					Vitamin A(DB00162)	TGACACATCAAATGTCATTAG	0.557																																						uc001skx.2		NA																	0				ovary(2)|skin(2)|large_intestine(1)|breast(1)	6						c.(1006-1008)TTT>TAT		PAN2 polyA specific ribonuclease subunit homolog							91.0	91.0	91.0					12																	56720656		2203	4300	6503	SO:0001583	missense	9924				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity	g.chr12:56720656A>T	AB014610	CCDS8915.1, CCDS44922.1, CCDS53802.1	12q13.2	2014-03-27	2014-03-27	2008-01-08		ENSG00000135473		"""Ubiquitin-specific peptidases"""	20074	protein-coding gene	gene with protein product	"""PAN2 homolog, PABP1 dependent poly A specific ribonuclease subunit (S. cerevisiae)"""		"""ubiquitin specific protease 52"", ""ubiquitin specific peptidase 52"", ""PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"""	USP52		12838346, 14583602	Standard	NM_014871		Approved	KIAA0710, hPAN2	uc001skx.3	Q504Q3	OTTHUMG00000170412	ENST00000425394.2:c.1007T>A	12.37:g.56720656A>T	ENSP00000401721:p.Phe336Tyr					PAN2_uc001skw.2_5'Flank|PAN2_uc001skz.2_Missense_Mutation_p.F336Y|PAN2_uc001sky.2_Missense_Mutation_p.F336Y	p.F336Y	NM_001127460	NP_001120932	Q504Q3	PAN2_HUMAN			7	1380	-			336						Missense_Mutation	SNP	ENST00000425394.2	37	c.1007T>A	CCDS44922.1	.	.	.	.	.	.	.	.	.	.	A	29.8	5.033991	0.93575	.	.	ENSG00000135473	ENST00000425394;ENST00000440411;ENST00000257931;ENST00000548043	T;T;T;T	0.08896	3.04;3.04;3.04;3.04	5.18	5.18	0.71444	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.050375	0.85682	D	0.000000	T	0.26521	0.0648	M	0.71206	2.165	0.80722	D	1	D;D;D	0.71674	0.998;0.997;0.997	D;D;P	0.65773	0.938;0.917;0.759	T	0.00761	-1.1577	10	0.87932	D	0	-7.6201	14.4526	0.67394	1.0:0.0:0.0:0.0	.	336;336;336	Q504Q3-3;Q504Q3-2;Q504Q3	.;.;PAN2_HUMAN	Y	336	ENSP00000401721:F336Y;ENSP00000388231:F336Y;ENSP00000257931:F336Y;ENSP00000449861:F336Y	ENSP00000257931:F336Y	F	-	2	0	PAN2	55006923	1.000000	0.71417	0.998000	0.56505	0.966000	0.64601	9.009000	0.93606	2.302000	0.77476	0.533000	0.62120	TTT		0.557	PAN2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409024.1	NM_014871		32	71	0	0	0	0	32	71				
TMEM132D	121256	broad.mit.edu	37	12	129559527	129559527	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr12:129559527G>T	ENST00000422113.2	-	9	2519	c.2193C>A	c.(2191-2193)ttC>ttA	p.F731L	TMEM132D_ENST00000389441.4_Missense_Mutation_p.F269L	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	731					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CCATCAAGGAGAAGTCTTTCC	0.473																																						uc009zyl.1		NA																	0				ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14						c.(2191-2193)TTC>TTA		transmembrane protein 132D precursor							78.0	71.0	73.0					12																	129559527		2203	4300	6503	SO:0001583	missense	121256					integral to membrane		g.chr12:129559527G>T	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.2193C>A	12.37:g.129559527G>T	ENSP00000408581:p.Phe731Leu					TMEM132D_uc001uia.2_Missense_Mutation_p.F269L	p.F731L	NM_133448	NP_597705	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	9	2521	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	731			Extracellular (Potential).		Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	c.2193C>A	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	G	16.95	3.264219	0.59431	.	.	ENSG00000151952	ENST00000389441;ENST00000422113	T;T	0.14266	2.52;2.52	4.3	3.38	0.38709	.	0.066468	0.64402	D	0.000010	T	0.26774	0.0655	L	0.59436	1.845	0.51767	D	0.999931	D;D	0.65815	0.995;0.984	P;D	0.63877	0.84;0.919	T	0.00717	-1.1596	9	.	.	.	-38.8257	9.602	0.39609	0.171:0.0:0.829:0.0	.	731;269	Q14C87;Q14C87-2	T132D_HUMAN;.	L	269;731	ENSP00000374092:F269L;ENSP00000408581:F731L	.	F	-	3	2	TMEM132D	128125480	0.998000	0.40836	1.000000	0.80357	0.653000	0.38743	1.608000	0.36847	2.090000	0.63153	0.462000	0.41574	TTC		0.473	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		13	35	1	0	1.62e-10	1.84e-10	13	35				
TMEM132D	121256	broad.mit.edu	37	12	130184386	130184386	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr12:130184386T>C	ENST00000422113.2	-	2	1263	c.937A>G	c.(937-939)Aga>Gga	p.R313G	RP11-174M13.2_ENST00000544036.1_lincRNA	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	313					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)		p.R313G(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GTGGAATTTCTGGAGATGGAA	0.502																																						uc009zyl.1		NA																	1	Substitution - Missense(1)	p.R313G(1)	upper_aerodigestive_tract(1)	ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14						c.(937-939)AGA>GGA		transmembrane protein 132D precursor							112.0	102.0	105.0					12																	130184386		2203	4300	6503	SO:0001583	missense	121256					integral to membrane		g.chr12:130184386T>C	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.937A>G	12.37:g.130184386T>C	ENSP00000408581:p.Arg313Gly						p.R313G	NM_133448	NP_597705	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	2	1265	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	313			Extracellular (Potential).		Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	c.937A>G	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	T	2.748	-0.260752	0.05791	.	.	ENSG00000151952	ENST00000422113	T	0.12774	2.65	5.47	3.04	0.35103	.	0.720360	0.12931	N	0.427351	T	0.08537	0.0212	N	0.14661	0.345	0.09310	N	1	B	0.23990	0.095	B	0.18871	0.023	T	0.35943	-0.9768	9	.	.	.	-11.8101	12.8097	0.57634	0.0:0.0:0.3916:0.6084	.	313	Q14C87	T132D_HUMAN	G	313	ENSP00000408581:R313G	.	R	-	1	2	TMEM132D	128750339	0.005000	0.15991	0.004000	0.12327	0.231000	0.25187	0.895000	0.28363	0.333000	0.23563	0.528000	0.53228	AGA		0.502	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		10	22	0	0	0	0	10	22				
B3GALTL	145173	broad.mit.edu	37	13	31891811	31891811	+	Silent	SNP	G	G	A	rs369715616		TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr13:31891811G>A	ENST00000343307.4	+	13	1322	c.1173G>A	c.(1171-1173)acG>acA	p.T391T		NM_194318.3	NP_919299.3	Q6Y288	B3GLT_HUMAN	beta 1,3-galactosyltransferase-like	391					fucose metabolic process (GO:0006004)|protein glycosylation (GO:0006486)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Lung SC(185;0.0257)		all cancers(112;0.00436)|Epithelial(112;0.0285)|OV - Ovarian serous cystadenocarcinoma(117;0.0512)|GBM - Glioblastoma multiforme(144;0.184)		GCTACATCACGGGAGGAGGAG	0.527																																						uc010aaz.2		NA																	0				ovary(2)	2						c.(1171-1173)ACG>ACA		beta 1,3-galactosyltransferase-like		G		1,4405	2.1+/-5.4	0,1,2202	105.0	98.0	100.0		1173	-9.9	0.4	13		100	0,8600		0,0,4300	no	coding-synonymous	B3GALTL	NM_194318.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		391/499	31891811	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	145173				fucose metabolic process	endoplasmic reticulum membrane|integral to membrane	transferase activity, transferring glycosyl groups	g.chr13:31891811G>A	AB101481	CCDS9341.1	13q12.3	2014-03-24			ENSG00000187676	ENSG00000187676		"""Beta 3-glycosyltransferases"""	20207	protein-coding gene	gene with protein product		610308				12943678, 16899492, 17032646	Standard	NM_194318		Approved	B3GTL, B3Glc-T	uc010aaz.3	Q6Y288	OTTHUMG00000016688	ENST00000343307.4:c.1173G>A	13.37:g.31891811G>A						B3GALTL_uc001utn.3_RNA	p.T391T	NM_194318	NP_919299	Q6Y288	B3GLT_HUMAN		all cancers(112;0.00436)|Epithelial(112;0.0285)|OV - Ovarian serous cystadenocarcinoma(117;0.0512)|GBM - Glioblastoma multiforme(144;0.184)	13	1283	+		Lung SC(185;0.0257)	391			Lumenal (Potential).		A8K5F8|Q5W0H2|Q6NUI3	Silent	SNP	ENST00000343307.4	37	c.1173G>A	CCDS9341.1																																																																																				0.527	B3GALTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044396.3	NM_194318		15	50	0	0	0	0	15	50				
RPGRIP1	57096	broad.mit.edu	37	14	21771560	21771560	+	Missense_Mutation	SNP	A	A	G	rs371762530		TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr14:21771560A>G	ENST00000400017.2	+	5	658	c.658A>G	c.(658-660)Atg>Gtg	p.M220V	RPGRIP1_ENST00000206660.6_Missense_Mutation_p.M220V|RPGRIP1_ENST00000556336.1_Intron|RPGRIP1_ENST00000557771.1_Intron	NM_020366.3	NP_065099.3	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	220					eye photoreceptor cell development (GO:0042462)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	axoneme (GO:0005930)|nonmotile primary cilium (GO:0031513)				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		TGGTCTATGCATGCCTAACAG	0.403																																						uc001wag.2		NA																	0				ovary(4)|breast(2)|pancreas(1)	7						c.(658-660)ATG>GTG		retinitis pigmentosa GTPase regulator		A	VAL/MET	0,3876		0,0,1938	62.0	59.0	60.0		658	-0.2	0.0	14		60	1,8301		0,1,4150	no	missense	RPGRIP1	NM_020366.3	21	0,1,6088	GG,GA,AA		0.012,0.0,0.0082	benign	220/1287	21771560	1,12177	1938	4151	6089	SO:0001583	missense	57096				response to stimulus|visual perception	cilium		g.chr14:21771560A>G	AF227257	CCDS45080.1	14q11.2	2013-06-06			ENSG00000092200	ENSG00000092200			13436	protein-coding gene	gene with protein product		605446		RPGRIP		10958647, 10958648	Standard	NM_020366		Approved	RGI1, LCA6, CORD13	uc001wag.3	Q96KN7	OTTHUMG00000170758	ENST00000400017.2:c.658A>G	14.37:g.21771560A>G	ENSP00000382895:p.Met220Val						p.M220V	NM_020366	NP_065099	Q96KN7	RPGR1_HUMAN	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)	5	658	+	all_cancers(95;0.0017)	all_cancers(140;0.0973)	220					Q7Z2W6|Q8IXV5|Q96QA8|Q9HB94|Q9HB95|Q9HBK6|Q9NR40	Missense_Mutation	SNP	ENST00000400017.2	37	c.658A>G	CCDS45080.1	.	.	.	.	.	.	.	.	.	.	A	2.916	-0.224371	0.06061	0.0	1.2E-4	ENSG00000092200	ENST00000400017;ENST00000206660	T;T	0.32753	1.44;1.44	4.92	-0.209	0.13180	.	0.986023	0.08270	N	0.971669	T	0.21387	0.0515	L	0.44542	1.39	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.31779	-0.9931	10	0.20046	T	0.44	-0.5292	4.2608	0.10740	0.5467:0.171:0.2823:0.0	.	220	Q96KN7	RPGR1_HUMAN	V	220	ENSP00000382895:M220V;ENSP00000206660:M220V	ENSP00000206660:M220V	M	+	1	0	RPGRIP1	20841400	0.000000	0.05858	0.009000	0.14445	0.303000	0.27691	-0.025000	0.12413	0.056000	0.16144	0.533000	0.62120	ATG		0.403	RPGRIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410258.1	NM_020366		9	24	0	0	0	0	9	24				
HECTD1	25831	broad.mit.edu	37	14	31598317	31598317	+	Silent	SNP	A	A	C			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr14:31598317A>C	ENST00000399332.1	-	25	4748	c.4260T>G	c.(4258-4260)gcT>gcG	p.A1420A	HECTD1_ENST00000553700.1_Silent_p.A1420A	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	1420	Ser-rich.				neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		CATGGACATCAGCTCCTGAAA	0.478																																						uc001wrc.1		NA																	0				ovary(3)|large_intestine(1)|lung(1)	5						c.(4258-4260)GCT>GCG		HECT domain containing 1							157.0	145.0	149.0					14																	31598317		2004	4168	6172	SO:0001819	synonymous_variant	25831				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity	g.chr14:31598317A>C	AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"""Ankyrin repeat domain containing"""	20157	protein-coding gene	gene with protein product			"""HECT domain containing 1"""			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.4260T>G	14.37:g.31598317A>C						HECTD1_uc001wrb.1_5'UTR|HECTD1_uc001wrd.1_Silent_p.A888A	p.A1420A	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)	25	4749	-	Hepatocellular(127;0.0877)|Breast(36;0.176)		1420			Ser-rich.		D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Silent	SNP	ENST00000399332.1	37	c.4260T>G	CCDS41939.1																																																																																				0.478	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409942.1			3	126	0	0	0	0	3	126				
FSCB	84075	broad.mit.edu	37	14	44974982	44974982	+	Silent	SNP	G	G	A	rs140508672	byFrequency	TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr14:44974982G>A	ENST00000340446.4	-	1	1500	c.1209C>T	c.(1207-1209)ggC>ggT	p.G403G	RP11-163M18.1_ENST00000555433.1_RNA|RP11-163M18.1_ENST00000557465.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	403	Pro-rich.					sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		CTTCAAGGGCGCCCTCAGCTG	0.517													G|||	3	0.000599042	0.0	0.0	5008	,	,		17828	0.003		0.0	False		,,,				2504	0.0					uc001wvn.2		NA																	0				lung(3)|breast(3)|ovary(2)|central_nervous_system(1)	9						c.(1207-1209)GGC>GGT		fibrous sheath CABYR binding protein							46.0	52.0	50.0					14																	44974982		2202	4296	6498	SO:0001819	synonymous_variant	84075					cilium		g.chr14:44974982G>A	AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"""chromosome 14 open reading frame 155"""	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.1209C>T	14.37:g.44974982G>A							p.G403G	NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN		GBM - Glioblastoma multiforme(112;0.128)	1	1518	-			403			Pro-rich.		Q5H9U7|Q86YI2|Q9H0J3	Silent	SNP	ENST00000340446.4	37	c.1209C>T	CCDS9679.1																																																																																				0.517	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1	NM_032135		20	69	0	0	0	0	20	69				
ATP5S	27109	broad.mit.edu	37	14	50792426	50792426	+	Silent	SNP	A	A	G			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr14:50792426A>G	ENST00000311459.7	+	5	1013	c.633A>G	c.(631-633)aaA>aaG	p.K211K	ATP5S_ENST00000245448.6_3'UTR|ATP5S_ENST00000554438.1_3'UTR|ATP5S_ENST00000358473.1_Intron|RP11-247L20.4_ENST00000555403.1_lincRNA	NM_001003803.2	NP_001003803.1	Q99766	ATP5S_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit s (factor B)	211					ATP biosynthetic process (GO:0006754)|hydrogen ion transmembrane transport (GO:1902600)|proton transport (GO:0015992)	mitochondrial inner membrane (GO:0005743)|proton-transporting ATP synthase complex, coupling factor F(o) (GO:0045263)	hydrogen ion transmembrane transporter activity (GO:0015078)|metal ion binding (GO:0046872)			breast(2)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|skin(2)|stomach(1)	12	all_epithelial(31;0.000636)|Breast(41;0.0102)			OV - Ovarian serous cystadenocarcinoma(311;0.0685)		TGGAACTAAAATTACAATTGA	0.308																																						uc001wxw.1		NA																	0				ovary(1)|skin(1)	2						c.(631-633)AAA>AAG		ATP synthase, H+ transporting, mitochondrial F0							89.0	96.0	94.0					14																	50792426		2203	4299	6502	SO:0001819	synonymous_variant	27109				ATP biosynthetic process	mitochondrial inner membrane|proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity	g.chr14:50792426A>G	U79253	CCDS32075.1, CCDS32076.1, CCDS45102.1	14q21.3	2011-04-13	2010-06-11			ENSG00000125375			18799	protein-coding gene	gene with protein product			"""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit s (factor B)"""			11744738, 8619474	Standard	NM_015684		Approved	HSU79253, ATPW	uc001wxw.2	Q99766		ENST00000311459.7:c.633A>G	14.37:g.50792426A>G						ATP5S_uc001wxx.1_3'UTR|ATP5S_uc010ant.1_Intron	p.K211K	NM_001003803	NP_001003803	Q99766	ATP5S_HUMAN		OV - Ovarian serous cystadenocarcinoma(311;0.0685)	5	1325	+	all_epithelial(31;0.000636)|Breast(41;0.0102)		211					A8K1U3|D9N156|Q8WWX3|Q96F77	Silent	SNP	ENST00000311459.7	37	c.633A>G	CCDS32075.1																																																																																				0.308	ATP5S-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410761.1	NM_015684		28	55	0	0	0	0	28	55				
SMOC1	64093	broad.mit.edu	37	14	70490018	70490018	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr14:70490018G>A	ENST00000381280.4	+	11	1398	c.1145G>A	c.(1144-1146)cGg>cAg	p.R382Q	SMOC1_ENST00000361956.3_Missense_Mutation_p.R382Q	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN	SPARC related modular calcium binding 1	382	EF-hand 1.				cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|eye development (GO:0001654)|limb development (GO:0060173)|positive regulation of cell-substrate adhesion (GO:0010811)|regulation of osteoblast differentiation (GO:0045667)|signal transduction (GO:0007165)	basement membrane (GO:0005604)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)	p.R382Q(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		ATTAACAAGCGGGAGATGAAG	0.542																																						uc001xls.1		NA																	1	Substitution - Missense(1)	p.R382Q(1)	upper_aerodigestive_tract(1)	upper_aerodigestive_tract(1)|pancreas(1)	2						c.(1144-1146)CGG>CAG		secreted modular calcium-binding protein 1							123.0	112.0	115.0					14																	70490018		2203	4300	6503	SO:0001583	missense	64093				cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding	g.chr14:70490018G>A	AJ249900	CCDS9798.1, CCDS32110.1	14q24.1	2010-08-05			ENSG00000198732	ENSG00000198732			20318	protein-coding gene	gene with protein product		608488				12130637	Standard	NM_001034852		Approved		uc001xlt.2	Q9H4F8		ENST00000381280.4:c.1145G>A	14.37:g.70490018G>A	ENSP00000370680:p.Arg382Gln					SMOC1_uc001xlt.1_Missense_Mutation_p.R382Q	p.R382Q	NM_022137	NP_071420	Q9H4F8	SMOC1_HUMAN		all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)	11	1398	+			382			EF-hand 1.|1 (Potential).		A8K1S3|B2R7P5|Q96F78	Missense_Mutation	SNP	ENST00000381280.4	37	c.1145G>A	CCDS9798.1	.	.	.	.	.	.	.	.	.	.	G	17.31	3.358490	0.61403	.	.	ENSG00000198732	ENST00000361956;ENST00000381280	T;T	0.57595	0.39;0.39	5.34	4.45	0.53987	SPARC/Testican, calcium-binding domain (1);EF-hand-like domain (1);	0.061169	0.64402	D	0.000006	T	0.32734	0.0839	N	0.11064	0.09	0.43338	D	0.995387	P;P	0.50819	0.939;0.898	B;B	0.42462	0.388;0.207	T	0.10200	-1.0640	10	0.33141	T	0.24	-18.4806	10.6055	0.45392	0.1484:0.0:0.8516:0.0	.	382;382	Q9H4F8-2;Q9H4F8	.;SMOC1_HUMAN	Q	382	ENSP00000355110:R382Q;ENSP00000370680:R382Q	ENSP00000355110:R382Q	R	+	2	0	SMOC1	69559771	1.000000	0.71417	0.803000	0.32268	0.911000	0.54048	6.022000	0.70839	1.372000	0.46190	0.655000	0.94253	CGG		0.542	SMOC1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000412467.1			20	61	0	0	0	0	20	61				
FAM161B	145483	broad.mit.edu	37	14	74413239	74413239	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr14:74413239G>A	ENST00000534936.1	-	2	229	c.124C>T	c.(124-126)Ccc>Tcc	p.P42S	FAM161B_ENST00000286544.3_Missense_Mutation_p.P105S			Q96MY7	F161B_HUMAN	family with sequence similarity 161, member B	42										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)	21						CTGGCCCTGGGCAAAACCAGC	0.507																																						uc001xpd.1		NA																	0				ovary(1)	1						c.(124-126)CCC>TCC		hypothetical protein LOC145483							109.0	108.0	108.0					14																	74413239		2203	4300	6503	SO:0001583	missense	145483							g.chr14:74413239G>A	AA356453	CCDS9822.1, CCDS9822.2	14q24.2	2008-06-05	2008-06-05	2008-06-05		ENSG00000156050			19854	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 44"""	C14orf44			Standard	NM_152445		Approved	FLJ31697	uc001xpd.3	Q96MY7		ENST00000534936.1:c.124C>T	14.37:g.74413239G>A	ENSP00000445326:p.Pro42Ser						p.P42S	NM_152445	NP_689658					2	230	-								B7Z882|J3KNA2	Missense_Mutation	SNP	ENST00000534936.1	37	c.124C>T		.	.	.	.	.	.	.	.	.	.	G	18.11	3.550930	0.65311	.	.	ENSG00000156050	ENST00000286544;ENST00000534936	T;T	0.27720	1.65;1.65	5.1	5.1	0.69264	.	0.116551	0.39475	N	0.001348	T	0.28962	0.0719	L	0.52573	1.65	0.32688	N	0.514635	B	0.22346	0.068	B	0.15870	0.014	T	0.28170	-1.0052	10	0.38643	T	0.18	-17.7282	13.8894	0.63729	0.0:0.0:1.0:0.0	.	42	Q96MY7	F161B_HUMAN	S	105;42	ENSP00000286544:P105S;ENSP00000445326:P42S	ENSP00000286544:P105S	P	-	1	0	FAM161B	73482992	1.000000	0.71417	0.998000	0.56505	0.540000	0.34992	4.787000	0.62432	2.644000	0.89710	0.561000	0.74099	CCC		0.507	FAM161B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_152445		4	139	0	0	0	0	4	139				
MAPKBP1	23005	broad.mit.edu	37	15	42110413	42110413	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr15:42110413A>T	ENST00000456763.2	+	19	2216	c.2020A>T	c.(2020-2022)Atc>Ttc	p.I674F	MAPKBP1_ENST00000221214.6_Missense_Mutation_p.I551F|MAPKBP1_ENST00000457542.2_Missense_Mutation_p.I668F|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.I507F|MAPKBP1_ENST00000514566.1_Missense_Mutation_p.I668F	NM_001128608.1	NP_001122080.1	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	674								p.I668F(1)		breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		CCCCTCAGGGATCTACATTGC	0.572																																						uc001zok.3		NA																	1	Substitution - Missense(1)	p.I668F(1)	upper_aerodigestive_tract(1)	central_nervous_system(5)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	10						c.(2020-2022)ATC>TTC		mitogen-activated protein kinase binding protein							116.0	99.0	105.0					15																	42110413		2203	4300	6503	SO:0001583	missense	23005							g.chr15:42110413A>T	AB011168	CCDS32201.1, CCDS45239.1, CCDS58359.1	15q15.1	2013-01-10	2008-01-30		ENSG00000137802	ENSG00000137802		"""WD repeat domain containing"""	29536	protein-coding gene	gene with protein product			"""mitogen activated protein kinase binding protein 1"""			9628581, 10471813	Standard	NM_014994		Approved	KIAA0596	uc001zok.4	O60336	OTTHUMG00000160227	ENST00000456763.2:c.2020A>T	15.37:g.42110413A>T	ENSP00000393099:p.Ile674Phe					MAPKBP1_uc001zoj.3_Missense_Mutation_p.I668F|MAPKBP1_uc010bcj.2_Missense_Mutation_p.I175F|MAPKBP1_uc010bci.2_Missense_Mutation_p.I668F|MAPKBP1_uc010udb.1_Missense_Mutation_p.I507F|MAPKBP1_uc010bck.2_5'UTR|MAPKBP1_uc010bcl.2_Missense_Mutation_p.I175F	p.I674F	NM_001128608	NP_001122080	O60336	MABP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)	19	2306	+		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)	674			WD 11.		A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9	Missense_Mutation	SNP	ENST00000456763.2	37	c.2020A>T	CCDS45239.1	.	.	.	.	.	.	.	.	.	.	a	20.1	3.935958	0.73442	.	.	ENSG00000137802	ENST00000457542;ENST00000221214;ENST00000260357;ENST00000456763;ENST00000514566	T;T;T;T;T	0.39406	1.61;1.61;1.08;1.25;1.08	5.5	3.18	0.36537	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.291220	0.38837	N	0.001554	T	0.29458	0.0734	N	0.20986	0.625	0.42570	D	0.993176	P;B;P;P;P	0.39404	0.589;0.041;0.568;0.543;0.672	B;B;B;B;B	0.42138	0.226;0.099;0.207;0.209;0.377	T	0.04509	-1.0946	10	0.36615	T	0.2	-7.1375	7.7569	0.28930	0.4471:0.4717:0.0812:0.0	.	507;551;668;674;668	F8WC21;O60336-3;O60336-2;O60336;O60336-6	.;.;.;MABP1_HUMAN;.	F	668;551;507;674;668	ENSP00000397570:I668F;ENSP00000221214:I551F;ENSP00000260357:I507F;ENSP00000393099:I674F;ENSP00000426154:I668F	ENSP00000221214:I551F	I	+	1	0	MAPKBP1	39897705	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.020000	0.49643	0.895000	0.36342	0.459000	0.35465	ATC		0.572	MAPKBP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359745.1	NM_014994		11	49	0	0	0	0	11	49				
IL16	3603	broad.mit.edu	37	15	81592385	81592385	+	Silent	SNP	G	G	A	rs142057384		TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr15:81592385G>A	ENST00000302987.4	+	13	2718	c.2718G>A	c.(2716-2718)tcG>tcA	p.S906S	IL16_ENST00000560230.1_3'UTR|IL16_ENST00000394660.2_Silent_p.S906S|IL16_ENST00000394652.2_Silent_p.S205S			Q14005	IL16_HUMAN	interleukin 16	906			S -> L (in dbSNP:rs17875513). {ECO:0000269|Ref.8}.		immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|leukocyte chemotaxis (GO:0030595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						TACTGTCCTCGGGGTCCCCTG	0.647													G|||	1	0.000199681	0.0	0.0	5008	,	,		11872	0.0		0.0	False		,,,				2504	0.001					uc002bgh.3		NA																	0				ovary(2)|lung(1)|skin(1)	4						c.(2716-2718)TCG>TCA		interleukin 16 isoform 2		G	,,	0,4396		0,0,2198	43.0	49.0	47.0		2718,615,2718	-5.6	0.0	15	dbSNP_134	47	1,8599		0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	IL16	NM_001172128.1,NM_004513.5,NM_172217.3	,,	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	,,	906/1332,205/632,906/1333	81592385	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	3603				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity	g.chr15:81592385G>A	U82972	CCDS10317.1, CCDS42069.1, CCDS53966.1	15q26.3	2011-07-14	2011-07-14		ENSG00000172349	ENSG00000172349		"""Interleukins and interleukin receptors"""	5980	protein-coding gene	gene with protein product	"""prointerleukin 16"", ""lymphocyte chemoattractant factor"""	603035	"""interleukin 16 (lymphocyte chemoattractant factor)"""			9144227	Standard	NM_004513		Approved	LCF, IL-16, prIL-16, HsT19289, FLJ42735, FLJ16806	uc021ssh.1	Q14005	OTTHUMG00000144186	ENST00000302987.4:c.2718G>A	15.37:g.81592385G>A						IL16_uc010blq.1_Silent_p.S860S|IL16_uc002bge.3_RNA|IL16_uc010unp.1_Silent_p.S948S|IL16_uc002bgg.2_Silent_p.S906S|IL16_uc002bgi.1_Silent_p.S296S|IL16_uc002bgj.2_Silent_p.S400S|IL16_uc002bgk.2_Silent_p.S205S|IL16_uc002bgl.1_Silent_p.S205S|IL16_uc010unq.1_Silent_p.S205S	p.S906S	NM_172217	NP_757366	Q14005	IL16_HUMAN			14	3094	+			906					A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	Silent	SNP	ENST00000302987.4	37	c.2718G>A	CCDS42069.1																																																																																				0.647	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000303952.1	NM_172217		3	78	0	0	0	0	3	78				
FLYWCH1	84256	broad.mit.edu	37	16	2983757	2983757	+	Silent	SNP	C	C	T			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr16:2983757C>T	ENST00000253928.9	+	6	1695	c.1290C>T	c.(1288-1290)ttC>ttT	p.F430F	FLYWCH1_ENST00000399667.2_Silent_p.F430F|FLYWCH1_ENST00000416288.2_Silent_p.F429F			Q4VC44	FWCH1_HUMAN	FLYWCH-type zinc finger 1	430						cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|lung(3)	4						GGGGCAGCTTCCTGGTGTACG	0.682																																						uc002csd.2		NA																	0					0						c.(1288-1290)TTC>TTT		FLYWCH-type zinc finger 1 isoform a							21.0	25.0	24.0					16																	2983757		1854	4077	5931	SO:0001819	synonymous_variant	84256					nucleus	DNA binding|metal ion binding	g.chr16:2983757C>T	AL136585	CCDS45390.1	16p13.3	2013-01-10	2007-06-21	2007-06-21	ENSG00000059122	ENSG00000059122		"""Zinc fingers"""	25404	protein-coding gene	gene with protein product						11230166, 10997877	Standard	XM_006720959		Approved	DKFZp761A132	uc002csc.3	Q4VC44		ENST00000253928.9:c.1290C>T	16.37:g.2983757C>T						FLYWCH1_uc002csb.2_Silent_p.F429F|FLYWCH1_uc002csc.2_Silent_p.F429F|FLYWCH1_uc010bsv.2_Silent_p.F105F	p.F430F	NM_032296	NP_115672	Q4VC44	FWCH1_HUMAN			6	1653	+			430			FLYWCH-type 3.		D3DUA1|Q6ZSQ1|Q8WV62|Q9BQG6|Q9BUS5|Q9HCM0	Silent	SNP	ENST00000253928.9	37	c.1290C>T																																																																																					0.682	FLYWCH1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000436479.1	NM_032296		7	9	0	0	0	0	7	9				
TP53	7157	broad.mit.edu	37	17	7578190	7578190	+	Missense_Mutation	SNP	T	T	C	rs121912666		TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr17:7578190T>C	ENST00000269305.4	-	6	848	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	TP53_ENST00000413465.2_Missense_Mutation_p.Y220C|TP53_ENST00000455263.2_Missense_Mutation_p.Y220C|TP53_ENST00000420246.2_Missense_Mutation_p.Y220C|TP53_ENST00000445888.2_Missense_Mutation_p.Y220C|TP53_ENST00000359597.4_Missense_Mutation_p.Y220C|TP53_ENST00000574684.1_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	220	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:9450901}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	AGGCGGCTCATAGGGCACCAC	0.557		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		343	Substitution - Missense(315)|Unknown(11)|Whole gene deletion(8)|Deletion - In frame(5)|Deletion - Frameshift(3)|Insertion - Frameshift(1)	p.Y220C(205)|p.Y220N(12)|p.Y220H(9)|p.Y220S(9)|p.0?(7)|p.Y220fs*27(4)|p.Y220*(3)|p.Y220D(2)|p.Y127C(2)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.?(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*1(1)|p.Y220fs*2(1)|p.V218fs*26(1)	ovary(55)|breast(54)|lung(37)|upper_aerodigestive_tract(35)|urinary_tract(19)|oesophagus(19)|large_intestine(17)|liver(17)|central_nervous_system(16)|stomach(15)|haematopoietic_and_lymphoid_tissue(15)|endometrium(14)|soft_tissue(8)|biliary_tract(6)|bone(5)|pancreas(4)|prostate(4)|peritoneum(2)|small_intestine(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM015378|CM951227	TP53	M	rs121912666	c.(658-660)TAT>TGT	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							102.0	94.0	97.0					17																	7578190		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578190T>C	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.659A>G	17.37:g.7578190T>C	ENSP00000269305:p.Tyr220Cys	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.Y220C|TP53_uc002gih.2_Missense_Mutation_p.Y220C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.Y88C|TP53_uc010cng.1_Missense_Mutation_p.Y88C|TP53_uc002gii.1_Missense_Mutation_p.Y88C|TP53_uc010cnh.1_Missense_Mutation_p.Y220C|TP53_uc010cni.1_Missense_Mutation_p.Y220C|TP53_uc002gij.2_Missense_Mutation_p.Y220C|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.Y127C|TP53_uc002gio.2_Missense_Mutation_p.Y88C|TP53_uc010vug.1_Missense_Mutation_p.Y181C	p.Y220C	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	853	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	220		Y -> N (in sporadic cancers; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.659A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.248510	0.80024	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99840	-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08	5.28	5.28	0.74379	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99822	0.9921	M	0.89287	3.02	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.998;0.996;1.0;0.999;0.998;1.0	D	0.96735	0.9542	10	0.87932	D	0	-1.87	13.4753	0.61306	0.0:0.0:0.0:1.0	.	181;220;220;127;220;220;220	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	C	220;220;220;220;220;220;209;127;88;127	ENSP00000410739:Y220C;ENSP00000352610:Y220C;ENSP00000269305:Y220C;ENSP00000398846:Y220C;ENSP00000391127:Y220C;ENSP00000391478:Y220C;ENSP00000425104:Y88C;ENSP00000423862:Y127C	ENSP00000269305:Y220C	Y	-	2	0	TP53	7518915	1.000000	0.71417	0.585000	0.28666	0.993000	0.82548	6.232000	0.72313	2.128000	0.65567	0.460000	0.39030	TAT		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		8	15	0	0	0	0	8	15				
TP53	7157	broad.mit.edu	37	17	7579358	7579358	+	Missense_Mutation	SNP	C	C	A	rs11540654|rs587780066	byFrequency	TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr17:7579358C>A	ENST00000269305.4	-	4	518	c.329G>T	c.(328-330)cGt>cTt	p.R110L	TP53_ENST00000413465.2_Missense_Mutation_p.R110L|TP53_ENST00000455263.2_Missense_Mutation_p.R110L|TP53_ENST00000420246.2_Missense_Mutation_p.R110L|TP53_ENST00000445888.2_Missense_Mutation_p.R110L|TP53_ENST00000359597.4_Missense_Mutation_p.R110L|TP53_ENST00000574684.1_5'Flank	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	110	Interaction with HIPK1. {ECO:0000250}.|Interaction with WWOX.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in a sporadic cancer; somatic mutation).|R -> H (in sporadic cancers; somatic mutation).|R -> L (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation).|R -> P (in sporadic cancers; somatic mutation; dbSNP:rs11540654). {ECO:0000269|PubMed:17224074}.|R -> S (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R110L(36)|p.R110P(9)|p.0?(8)|p.G59fs*23(3)|p.R110fs*13(2)|p.F109_R110delFR(2)|p.R110H(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y107fs*44(1)|p.R110fs*39(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y107fs*38(1)|p.Y103_L111>L(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GAAGCCCAGACGGAAACCGTA	0.612		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		71	Substitution - Missense(47)|Deletion - Frameshift(10)|Whole gene deletion(8)|Deletion - In frame(3)|Complex - deletion inframe(2)|Insertion - Frameshift(1)	p.R110L(24)|p.R110P(8)|p.0?(7)|p.R110fs*13(5)|p.R110C(4)|p.G59fs*23(3)|p.F109_R110delFR(2)|p.R110H(2)|p.V73fs*9(1)|p.F109_R110insXX(1)|p.G105_T125del21(1)|p.R110fs*18(1)|p.Y107fs*44(1)|p.R110fs*39(1)|p.Y103_G112>C(1)|p.R110S(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y107fs*38(1)|p.Y103_L111>L(1)	upper_aerodigestive_tract(15)|lung(13)|breast(8)|large_intestine(5)|urinary_tract(5)|liver(4)|bone(4)|soft_tissue(3)|oesophagus(3)|ovary(3)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|stomach(1)|skin(1)|pancreas(1)|autonomic_ganglia(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM984590	TP53	M	rs11540654	c.(328-330)CGT>CTT	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							63.0	60.0	61.0					17																	7579358		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7579358C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.329G>T	17.37:g.7579358C>A	ENSP00000269305:p.Arg110Leu	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.R110L|TP53_uc002gih.2_Missense_Mutation_p.R110L|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Missense_Mutation_p.R110L|TP53_uc010cni.1_Missense_Mutation_p.R110L|TP53_uc002gij.2_Missense_Mutation_p.R110L|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Missense_Mutation_p.R71L|TP53_uc010cnk.1_Missense_Mutation_p.R125L	p.R110L	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	523	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	110		R -> G (in a sporadic cancer; somatic mutation).|R -> C (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).|R -> H (in sporadic cancers; somatic mutation).|R -> L (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with HIPK1 (By similarity).||Interaction with WWOX.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.329G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	16.33	3.091694	0.55968	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	D;D;D;D;D;D;D;D	0.99766	-6.69;-6.69;-6.69;-6.69;-6.69;-6.69;-6.69;-6.69	4.75	-0.964	0.10326	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.808524	0.11806	N	0.527643	D	0.99242	0.9736	L	0.52759	1.655	0.09310	N	1	P;P;P;B;B;B;P	0.51537	0.946;0.941;0.459;0.347;0.373;0.362;0.782	P;P;B;B;B;P;B	0.57152	0.523;0.814;0.269;0.211;0.405;0.49;0.337	D	0.99938	1.1378	10	0.66056	D	0.02	-0.2466	4.9119	0.13825	0.0:0.3943:0.154:0.4517	rs11540654;rs11540654	71;110;110;110;110;110;110	B4E095;E7EMR6;P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	L	110	ENSP00000410739:R110L;ENSP00000352610:R110L;ENSP00000269305:R110L;ENSP00000398846:R110L;ENSP00000391127:R110L;ENSP00000391478:R110L;ENSP00000424104:R110L;ENSP00000426252:R110L	ENSP00000269305:R110L	R	-	2	0	TP53	7520083	0.012000	0.17670	0.014000	0.15608	0.952000	0.60782	0.563000	0.23547	-0.185000	0.10550	0.655000	0.94253	CGT		0.612	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		16	45	1	0	0.000422831	0.000455514	16	45				
GPR179	440435	broad.mit.edu	37	17	36485397	36485397	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr17:36485397C>A	ENST00000342292.4	-	11	4075	c.4055G>T	c.(4054-4056)aGt>aTt	p.S1352I	GPR179_ENST00000584976.1_5'Flank	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1352					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				GGCCTCCACACTGTCCCCCGC	0.627																																						uc002hpz.2		NA																	0				ovary(3)	3						c.(4054-4056)AGT>ATT		GPR158-like 1 precursor							49.0	55.0	53.0					17																	36485397		1997	4166	6163	SO:0001583	missense	440435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr17:36485397C>A		CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"""GPCR / Class C : Orphans"""	31371	protein-coding gene	gene with protein product		614515	"""GPR158-like 1"", ""GPR179"""	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.4055G>T	17.37:g.36485397C>A	ENSP00000345060:p.Ser1352Ile						p.S1352I	NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN			11	4076	-	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)	1352			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000342292.4	37	c.4055G>T	CCDS42308.1	.	.	.	.	.	.	.	.	.	.	C	5.470	0.271801	0.10349	.	.	ENSG00000188888	ENST00000342292	T	0.58060	0.36	3.57	2.58	0.30949	.	0.935307	0.08839	N	0.886151	T	0.52996	0.1769	M	0.62723	1.935	0.09310	N	1	P	0.45902	0.868	B	0.42882	0.401	T	0.44283	-0.9338	10	0.66056	D	0.02	0.5678	10.091	0.42447	0.0:0.7943:0.2057:0.0	.	1352	Q6PRD1	GP179_HUMAN	I	1352	ENSP00000345060:S1352I	ENSP00000345060:S1352I	S	-	2	0	GPR179	33738923	0.001000	0.12720	0.001000	0.08648	0.015000	0.08874	0.755000	0.26405	0.702000	0.31825	0.455000	0.32223	AGT		0.627	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2			10	44	1	0	1.59e-06	1.76e-06	10	44				
DCC	1630	broad.mit.edu	37	18	50942511	50942511	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr18:50942511A>C	ENST00000442544.2	+	21	3764	c.3148A>C	c.(3148-3150)Atg>Ctg	p.M1050L	DCC_ENST00000412726.1_Missense_Mutation_p.M878L|DCC_ENST00000581580.1_Missense_Mutation_p.M685L	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	1050					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)	p.M1050L(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CCCTGACAAAATGGCTAATGA	0.378																																						uc002lfe.1		NA																	1	Substitution - Missense(1)	p.M1050L(1)	upper_aerodigestive_tract(1)	skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17						c.(3148-3150)ATG>CTG		netrin receptor DCC precursor							134.0	128.0	130.0					18																	50942511		2203	4300	6503	SO:0001583	missense	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:50942511A>C	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.3148A>C	18.37:g.50942511A>C	ENSP00000389140:p.Met1050Leu					DCC_uc010xdr.1_Missense_Mutation_p.M878L|DCC_uc010dpf.1_Missense_Mutation_p.M685L	p.M1050L	NM_005215	NP_005206	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	21	3735	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	1050			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000442544.2	37	c.3148A>C	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	A	13.89	2.372695	0.42003	.	.	ENSG00000187323	ENST00000442544;ENST00000412726	T;T	0.49720	0.77;0.81	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.42765	0.1217	L	0.48642	1.525	0.48040	D	0.999576	P;P;B	0.46395	0.877;0.877;0.188	B;B;B	0.44108	0.441;0.441;0.109	T	0.27157	-1.0082	10	0.10377	T	0.69	-12.6471	14.4987	0.67707	1.0:0.0:0.0:0.0	.	878;878;1050	E7EQM8;B4DYX2;P43146	.;.;DCC_HUMAN	L	1050;878	ENSP00000389140:M1050L;ENSP00000397322:M878L	ENSP00000397322:M878L	M	+	1	0	DCC	49196509	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.426000	0.90273	2.105000	0.64084	0.533000	0.62120	ATG		0.378	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		10	10	0	0	0	0	10	10				
DOK6	220164	broad.mit.edu	37	18	67406313	67406313	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr18:67406313A>T	ENST00000382713.5	+	6	902	c.712A>T	c.(712-714)Atg>Ttg	p.M238L	DOK6_ENST00000584435.1_3'UTR	NM_152721.5	NP_689934.2	Q6PKX4	DOK6_HUMAN	docking protein 6	238				M -> V (in Ref. 5; BAB71577). {ECO:0000305}.				p.M238L(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				TGAAAGATTAATGCTAGAAAT	0.443																																						uc002lkl.2		NA																	1	Substitution - Missense(1)	p.M238L(1)	upper_aerodigestive_tract(1)	upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						c.(712-714)ATG>TTG		docking protein 6							117.0	112.0	114.0					18																	67406313		2203	4300	6503	SO:0001583	missense	220164						insulin receptor binding	g.chr18:67406313A>T	AK057795	CCDS32841.1	18q22.2	2013-01-10	2005-01-18	2005-01-18		ENSG00000206052		"""Pleckstrin homology (PH) domain containing"""	28301	protein-coding gene	gene with protein product		611402	"""docking protein 5-like"""	DOK5L		15286081	Standard	NM_152721		Approved	MGC20785, HsT3226	uc002lkl.3	Q6PKX4		ENST00000382713.5:c.712A>T	18.37:g.67406313A>T	ENSP00000372160:p.Met238Leu						p.M238L	NM_152721	NP_689934	Q6PKX4	DOK6_HUMAN			6	902	+		Colorectal(73;0.083)|Esophageal squamous(42;0.131)	238	M -> V (in Ref. 5; BAB71577).				A6NNG3|Q4V9S3|Q8WUZ8|Q96HI2|Q96LU2	Missense_Mutation	SNP	ENST00000382713.5	37	c.712A>T	CCDS32841.1	.	.	.	.	.	.	.	.	.	.	A	14.86	2.661082	0.47572	.	.	ENSG00000206052	ENST00000382713	T	0.81247	-1.47	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.61627	0.2362	N	0.02802	-0.49	0.51233	D	0.999915	B	0.02656	0.0	B	0.04013	0.001	T	0.58842	-0.7565	10	0.26408	T	0.33	-15.143	15.8323	0.78764	1.0:0.0:0.0:0.0	.	238	Q6PKX4	DOK6_HUMAN	L	238	ENSP00000372160:M238L	ENSP00000372160:M238L	M	+	1	0	DOK6	65557293	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.816000	0.69222	2.333000	0.79357	0.482000	0.46254	ATG		0.443	DOK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442969.1	NM_152721		34	35	0	0	0	0	34	35				
CTDP1	9150	broad.mit.edu	37	18	77489013	77489013	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr18:77489013G>C	ENST00000299543.7	+	11	2671	c.2524G>C	c.(2524-2526)Gag>Cag	p.E842Q	CTDP1_ENST00000075430.7_Intron	NM_001202504.1|NM_004715.4	NP_001189433.1|NP_004706.3	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1	842					exit from mitosis (GO:0010458)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|protein dephosphorylation (GO:0006470)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	CTD phosphatase activity (GO:0008420)|DNA-directed RNA polymerase activity (GO:0003899)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		CAGTATGTCTGAGACAATGCC	0.592																																						uc002lnh.1		NA																	0					0						c.(2524-2526)GAG>CAG		CTD (carboxy-terminal domain, RNA polymerase II,							185.0	194.0	191.0					18																	77489013		2203	4300	6503	SO:0001583	missense	9150				positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity	g.chr18:77489013G>C	AF081287	CCDS12017.1, CCDS12018.1, CCDS74239.1	18q23	2014-09-17			ENSG00000060069	ENSG00000060069		"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	2498	protein-coding gene	gene with protein product		604927				9405607, 9765293	Standard	NM_004715		Approved	FCP1	uc002lnh.2	Q9Y5B0	OTTHUMG00000132920	ENST00000299543.7:c.2524G>C	18.37:g.77489013G>C	ENSP00000299543:p.Glu842Gln					CTDP1_uc002lni.1_Intron|CTDP1_uc010drd.1_Missense_Mutation_p.E842Q	p.E842Q	NM_004715	NP_004706	Q9Y5B0	CTDP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)	11	2671	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	842					A8MY97|Q7Z644|Q96BZ1|Q9Y6F5	Missense_Mutation	SNP	ENST00000299543.7	37	c.2524G>C	CCDS12017.1	.	.	.	.	.	.	.	.	.	.	g	27.9	4.874528	0.91664	.	.	ENSG00000060069	ENST00000299543	T	0.58797	0.31	5.32	5.32	0.75619	FCP1-like phosphatase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.75474	0.3854	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.75758	-0.3205	10	0.49607	T	0.09	-39.4459	18.986	0.92769	0.0:0.0:1.0:0.0	.	723;842	Q9Y5B0-3;Q9Y5B0	.;CTDP1_HUMAN	Q	842	ENSP00000299543:E842Q	ENSP00000299543:E842Q	E	+	1	0	CTDP1	75590001	1.000000	0.71417	0.985000	0.45067	0.996000	0.88848	8.385000	0.90163	2.487000	0.83934	0.651000	0.88453	GAG		0.592	CTDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256432.1	NM_004715		4	189	0	0	0	0	4	189				
LONP1	9361	broad.mit.edu	37	19	5699115	5699115	+	Silent	SNP	G	G	A	rs376139384		TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr19:5699115G>A	ENST00000360614.3	-	10	1765	c.1608C>T	c.(1606-1608)atC>atT	p.I536I	LONP1_ENST00000590729.1_Silent_p.I406I|LONP1_ENST00000593119.1_Silent_p.I472I|LONP1_ENST00000585374.1_Silent_p.I422I|LONP1_ENST00000540670.2_Silent_p.I340I	NM_004793.2	NP_004784.2			lon peptidase 1, mitochondrial											breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GGGCGCGGGCGATGGAGCGAG	0.632																																						uc002mcx.2		NA																	0					0						c.(1606-1608)ATC>ATT		mitochondrial lon peptidase 1 precursor		A		0,4406		0,0,2203	65.0	59.0	61.0		1608	-5.2	1.0	19		61	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	LONP1	NM_004793.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		536/960	5699115	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9361				cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding	g.chr19:5699115G>A	U02389	CCDS12148.1, CCDS62507.1, CCDS62508.1	19p13.2	2014-01-28	2006-10-20	2006-10-20	ENSG00000196365	ENSG00000196365		"""ATPases / AAA-type"", ""Serine peptidases / Serine peptidases"""	9479	protein-coding gene	gene with protein product		605490	"""protease, serine, 15"""	PRSS15		8248235, 8119403	Standard	NM_004793		Approved	LonHS, hLON, PIM1	uc002mcx.4	P36776		ENST00000360614.3:c.1608C>T	19.37:g.5699115G>A						LONP1_uc002mcy.2_Silent_p.I472I|LONP1_uc010duh.2_Silent_p.I277I|LONP1_uc010dui.2_Silent_p.I520I|LONP1_uc002mcz.2_Silent_p.I340I	p.I536I	NM_004793	NP_004784	P36776	LONM_HUMAN			10	1641	-			536						Silent	SNP	ENST00000360614.3	37	c.1608C>T	CCDS12148.1																																																																																				0.632	LONP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451662.1	NM_004793		17	71	0	0	0	0	17	71				
FKBP8	23770	broad.mit.edu	37	19	18649084	18649084	+	Silent	SNP	G	G	A			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr19:18649084G>A	ENST00000596558.2	-	5	820	c.711C>T	c.(709-711)ttC>ttT	p.F237F	FKBP8_ENST00000608443.1_Silent_p.F238F|FKBP8_ENST00000597960.3_Silent_p.F238F|AC005387.2_ENST00000596596.1_RNA|FKBP8_ENST00000222308.4_Silent_p.F237F|FKBP8_ENST00000610101.1_Intron|FKBP8_ENST00000453489.2_Silent_p.F266F			Q14318	FKBP8_HUMAN	FK506 binding protein 8, 38kDa	237					apoptotic process (GO:0006915)|camera-type eye development (GO:0043010)|cell fate specification (GO:0001708)|chaperone-mediated protein folding (GO:0061077)|dorsal/ventral neural tube patterning (GO:0021904)|intracellular signal transduction (GO:0035556)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|positive regulation of BMP signaling pathway (GO:0030513)|protein peptidyl-prolyl isomerization (GO:0000413)|regulation of gene expression (GO:0010468)|smoothened signaling pathway (GO:0007224)|viral process (GO:0016032)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)	FK506 binding (GO:0005528)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	15						CGGCCAGGACGAAGTCCGCCC	0.667																																						uc002njk.1		NA																	0				ovary(1)	1						c.(709-711)TTC>TTT		FK506-binding protein 8							55.0	51.0	53.0					19																	18649084		2203	4300	6503	SO:0001819	synonymous_variant	23770				apoptosis|interspecies interaction between organisms|intracellular signal transduction|protein folding	integral to endoplasmic reticulum membrane|mitochondrial membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding	g.chr19:18649084G>A	L37033	CCDS32961.1	19p12	2013-01-10	2002-08-29		ENSG00000105701	ENSG00000105701		"""Tetratricopeptide (TTC) repeat domain containing"""	3724	protein-coding gene	gene with protein product	"""FK506-binding protein 8 (38kD)"""	604840	"""FK506-binding protein 8 (38kD)"""			7543869	Standard	NM_012181		Approved	FKBP38, FKBPr38	uc002njj.1	Q14318		ENST00000596558.2:c.711C>T	19.37:g.18649084G>A						FKBP8_uc002nji.1_Silent_p.F75F|FKBP8_uc010xqi.1_Silent_p.F266F|FKBP8_uc002njj.1_Silent_p.F238F|FKBP8_uc002njl.1_Silent_p.F238F|FKBP8_uc002njm.1_Silent_p.F237F|FKBP8_uc010ebr.1_Silent_p.F76F|FKBP8_uc002njn.2_RNA	p.F237F	NM_012181	NP_036313	Q14318	FKBP8_HUMAN			5	824	-			237			TPR 1.		C8C9T5|Q53GU3|Q7Z349|Q86YK6	Silent	SNP	ENST00000596558.2	37	c.711C>T																																																																																					0.667	FKBP8-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000466374.3	NM_012181		5	68	0	0	0	0	5	68				
ZFP36	7538	broad.mit.edu	37	19	39898771	39898771	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr19:39898771G>A	ENST00000248673.3	+	2	471	c.413G>A	c.(412-414)cGc>cAc	p.R138H	ZFP36_ENST00000594045.1_3'UTR|MIR4530_ENST00000581459.1_RNA|ZFP36_ENST00000597629.1_Missense_Mutation_p.R144H	NM_003407.3	NP_003398.2	P26651	TTP_HUMAN	ZFP36 ring finger protein	138					3'-UTR-mediated mRNA stabilization (GO:0070935)|gene expression (GO:0010467)|intracellular signal transduction (GO:0035556)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|negative regulation of inflammatory response (GO:0050728)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of tumor necrosis factor production (GO:0032680)|response to starvation (GO:0042594)|RNA destabilization (GO:0050779)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|AU-rich element binding (GO:0017091)|C-C chemokine binding (GO:0019957)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|single-stranded RNA binding (GO:0003727)			large_intestine(1)|lung(5)|pancreas(1)	7	all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CAGGCCAATCGCCACCCCAAA	0.612																																					NSCLC(67;1164 1324 12056 21056 30097)	uc002olh.1		NA																	0				pancreas(1)	1						c.(412-414)CGC>CAC		zinc finger protein 36, C3H type, homolog							68.0	74.0	72.0					19																	39898771		2203	4297	6500	SO:0001583	missense	7538				positive regulation of nuclear-transcribed mRNA poly(A) tail shortening	cytosol|nucleus	AU-rich element binding|DNA binding|mRNA binding|protein binding|single-stranded RNA binding|zinc ion binding	g.chr19:39898771G>A	M63625	CCDS12534.1, CCDS12534.2	19q13.1	2012-11-27	2012-11-27			ENSG00000128016		"""RING-type (C3HC4) zinc fingers"""	12862	protein-coding gene	gene with protein product		190700	"""zinc finger protein 36, C3H type, homolog (mouse)"""			1699942	Standard	NM_003407		Approved	RNF162A, TIS11, G0S24, TTP, NUP475, tristetraprolin	uc002olh.2	P26651		ENST00000248673.3:c.413G>A	19.37:g.39898771G>A	ENSP00000248673:p.Arg138His					ZFP36_uc010egn.1_Missense_Mutation_p.A11T	p.R138H	NM_003407	NP_003398	P26651	TTP_HUMAN	Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)		2	471	+	all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512)		138					B2RA54	Missense_Mutation	SNP	ENST00000248673.3	37	c.413G>A		.	.	.	.	.	.	.	.	.	.	G	28.3	4.911734	0.92178	.	.	ENSG00000128016	ENST00000248673	T	0.26373	1.74	4.07	4.07	0.47477	.	0.060963	0.64402	D	0.000017	T	0.48259	0.1490	M	0.87097	2.86	0.52501	D	0.999952	D	0.76494	0.999	P	0.55508	0.777	T	0.58847	-0.7564	10	0.56958	D	0.05	-9.8119	13.8231	0.63336	0.0:0.0:1.0:0.0	.	138	P26651	TTP_HUMAN	H	138	ENSP00000248673:R138H	ENSP00000248673:R138H	R	+	2	0	ZFP36	44590611	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.551000	0.98112	2.128000	0.65567	0.442000	0.29010	CGC		0.612	ZFP36-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding				37	93	0	0	0	0	37	93				
DHX34	9704	broad.mit.edu	37	19	47856424	47856424	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr19:47856424A>G	ENST00000328771.4	+	2	486	c.137A>G	c.(136-138)gAa>gGa	p.E46G		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	46					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	membrane (GO:0016020)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		TTCTTCCGTGAAGAGGATTAC	0.537																																						uc010xyn.1		NA																	0				ovary(4)|upper_aerodigestive_tract(1)	5						c.(136-138)GAA>GGA		DEAH (Asp-Glu-Ala-His) box polypeptide 34							67.0	66.0	66.0					19																	47856424		2203	4300	6503	SO:0001583	missense	9704					intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding	g.chr19:47856424A>G	D50924	CCDS12700.1	19q13.3	2003-06-13	2003-06-13	2003-06-13	ENSG00000134815	ENSG00000134815		"""DEAH-boxes"""	16719	protein-coding gene	gene with protein product		615475	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 34"""	DDX34		10708517, 8590280	Standard	NM_014681		Approved	KIAA0134	uc010xyn.2	Q14147	OTTHUMG00000149959	ENST00000328771.4:c.137A>G	19.37:g.47856424A>G	ENSP00000331907:p.Glu46Gly					DHX34_uc010elc.1_Missense_Mutation_p.E46G	p.E46G	NM_014681	NP_055496	Q14147	DHX34_HUMAN		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)	2	478	+		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)	46					B4DMY8	Missense_Mutation	SNP	ENST00000328771.4	37	c.137A>G	CCDS12700.1	.	.	.	.	.	.	.	.	.	.	A	11.72	1.722705	0.30503	.	.	ENSG00000134815	ENST00000328771;ENST00000257252	T	0.02974	4.09	5.84	4.81	0.61882	.	0.617888	0.15575	N	0.255240	T	0.03434	0.0099	L	0.40543	1.245	0.19300	N	0.999976	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.40308	-0.9570	10	0.31617	T	0.26	-1.8287	10.2789	0.43528	0.9208:0.0:0.0792:0.0	.	46;46	Q14147;B4E3G3	DHX34_HUMAN;.	G	46	ENSP00000331907:E46G	ENSP00000257252:E46G	E	+	2	0	DHX34	52548264	0.825000	0.29262	0.031000	0.17742	0.849000	0.48306	2.374000	0.44274	1.005000	0.39183	0.454000	0.30748	GAA		0.537	DHX34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314313.3	NM_014681		17	40	0	0	0	0	17	40				
PPP1R12C	54776	broad.mit.edu	37	19	55605735	55605735	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr19:55605735C>T	ENST00000263433.3	-	13	1676	c.1661G>A	c.(1660-1662)cGc>cAc	p.R554H	PPP1R12C_ENST00000435544.2_Missense_Mutation_p.R480H|PPP1R12C_ENST00000376393.2_Missense_Mutation_p.R554H	NM_001271618.1|NM_017607.2	NP_001258547.1|NP_060077.1			protein phosphatase 1, regulatory subunit 12C											central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		CCGAGACTGGCGCATGAGACG	0.642																																						uc002qix.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1660-1662)CGC>CAC		protein phosphatase 1, regulatory subunit 12C							89.0	86.0	87.0					19																	55605735		2203	4300	6503	SO:0001583	missense	54776					cytoplasm		g.chr19:55605735C>T	AF312028	CCDS12916.1	19q13.42	2013-01-10	2011-10-04		ENSG00000125503	ENSG00000125503		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	14947	protein-coding gene	gene with protein product	"""myosin-binding subunit 85"""	613245	"""leukocyte receptor cluster (LRC) member 3"", ""protein phosphatase 1, regulatory (inhibitor) subunit 12C"""	LENG3		11399775	Standard	NM_017607		Approved	DKFZP434D0412, p84, MBS85, p85	uc002qix.4	Q9BZL4		ENST00000263433.3:c.1661G>A	19.37:g.55605735C>T	ENSP00000263433:p.Arg554His					PPP1R12C_uc010yfs.1_Missense_Mutation_p.R480H|PPP1R12C_uc002qiy.2_Missense_Mutation_p.R553H	p.R554H	NM_017607	NP_060077	Q9BZL4	PP12C_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)	13	1677	-			554						Missense_Mutation	SNP	ENST00000263433.3	37	c.1661G>A	CCDS12916.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.362113	0.82353	.	.	ENSG00000125503	ENST00000263433;ENST00000376393;ENST00000435544	D;D;D	0.86366	-1.92;-1.78;-2.11	4.79	3.75	0.43078	.	0.068208	0.56097	D	0.000029	D	0.91831	0.7415	M	0.75085	2.285	0.41254	D	0.986733	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.972;0.997;0.981	D	0.91918	0.5545	10	0.66056	D	0.02	.	10.3751	0.44077	0.0:0.9026:0.0:0.0974	.	480;553;554	B4DME2;Q9BZL4-3;Q9BZL4	.;.;PP12C_HUMAN	H	554;554;480	ENSP00000263433:R554H;ENSP00000365573:R554H;ENSP00000387833:R480H	ENSP00000263433:R554H	R	-	2	0	PPP1R12C	60297547	0.998000	0.40836	1.000000	0.80357	0.995000	0.86356	3.613000	0.54152	2.390000	0.81377	0.561000	0.74099	CGC		0.642	PPP1R12C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451814.2	NM_017607		12	50	0	0	0	0	12	50				
SIX2	10736	broad.mit.edu	37	2	45233324	45233324	+	Silent	SNP	C	C	T			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr2:45233324C>T	ENST00000303077.6	-	2	1180	c.861G>A	c.(859-861)gtG>gtA	p.V287V		NM_016932.4	NP_058628.3	Q9NPC8	SIX2_HUMAN	SIX homeobox 2	287					anatomical structure morphogenesis (GO:0009653)|anterior/posterior axis specification (GO:0009948)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|chondrocyte differentiation (GO:0002062)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|kidney development (GO:0001822)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|mesenchymal stem cell maintenance involved in nephron morphogenesis (GO:0072038)|mesenchymal stem cell proliferation (GO:0097168)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesodermal cell fate specification (GO:0007501)|middle ear morphogenesis (GO:0042474)|nephron development (GO:0072006)|nephron morphogenesis (GO:0072028)|positive regulation of chondrocyte proliferation (GO:1902732)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein import into nucleus (GO:0006606)|regulation of branching involved in ureteric bud morphogenesis (GO:0090189)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(6)|large_intestine(3)|lung(8)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	22		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				AGCCCAGGTCCACGAGGTTGG	0.642																																						uc002ruo.2		NA																	0				pancreas(1)	1						c.(859-861)GTG>GTA		SIX homeobox 2							141.0	130.0	134.0					2																	45233324		2203	4300	6503	SO:0001819	synonymous_variant	10736					nucleus	sequence-specific DNA binding transcription factor activity	g.chr2:45233324C>T	AF136939	CCDS1822.1	2p21	2011-06-20	2007-07-13		ENSG00000170577	ENSG00000170577		"""Homeoboxes / SINE class"""	10888	protein-coding gene	gene with protein product		604994	"""sine oculis homeobox (Drosophila) homolog 2"", ""sine oculis homeobox homolog 2 (Drosophila)"""				Standard	NM_016932		Approved		uc002ruo.3	Q9NPC8	OTTHUMG00000152421	ENST00000303077.6:c.861G>A	2.37:g.45233324C>T						SIX2_uc002rup.2_Silent_p.V289V	p.V287V	NM_016932	NP_058628	Q9NPC8	SIX2_HUMAN			2	1154	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	287					Q9BXH7	Silent	SNP	ENST00000303077.6	37	c.861G>A	CCDS1822.1																																																																																				0.642	SIX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326188.2			13	56	0	0	0	0	13	56				
APLF	200558	broad.mit.edu	37	2	68729908	68729908	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr2:68729908C>T	ENST00000303795.4	+	3	385	c.214C>T	c.(214-216)Ctc>Ttc	p.L72F		NM_173545.2	NP_775816.1	Q8IW19	APLF_HUMAN	aprataxin and PNKP like factor	72	FHA-like.				cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|double-strand break repair (GO:0006302)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of DNA ligation (GO:0051106)|regulation of isotype switching (GO:0045191)|single strand break repair (GO:0000012)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	3'-5' exonuclease activity (GO:0008408)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|endodeoxyribonuclease activity (GO:0004520)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	25						GAAGAGTCAGCTCTTACCATT	0.303																																						uc002sep.2		NA																	0				ovary(2)	2						c.(214-216)CTC>TTC		aprataxin and PNKP like factor							102.0	102.0	102.0					2																	68729908		2203	4300	6503	SO:0001583	missense	200558				double-strand break repair|single strand break repair	cytosol|nucleus	3'-5' exonuclease activity|DNA-(apurinic or apyrimidinic site) lyase activity|endodeoxyribonuclease activity|metal ion binding|nucleotide binding|protein binding	g.chr2:68729908C>T	BC030711	CCDS1888.1	2p14	2014-02-20	2008-10-01	2008-10-01	ENSG00000169621	ENSG00000169621			28724	protein-coding gene	gene with protein product	"""XRCC1-interacting protein 1"", ""zinc finger, CX5CX6HX5H motif containing 1"""	611035	"""chromosome 2 open reading frame 13"""	C2orf13		18474613, 18077224, 17353262	Standard	NM_173545		Approved	MGC47799, Xip1, ZCCHH1	uc002sep.3	Q8IW19	OTTHUMG00000129566	ENST00000303795.4:c.214C>T	2.37:g.68729908C>T	ENSP00000307004:p.Leu72Phe					APLF_uc010fdf.2_Missense_Mutation_p.L48F	p.L72F	NM_173545	NP_775816	Q8IW19	APLF_HUMAN			3	387	+			72			FHA-like.		A8K476|Q53P47|Q53PB9|Q53QU0	Missense_Mutation	SNP	ENST00000303795.4	37	c.214C>T	CCDS1888.1	.	.	.	.	.	.	.	.	.	.	c	8.121	0.780943	0.16120	.	.	ENSG00000169621	ENST00000303795	T	0.25250	1.81	5.22	3.43	0.39272	Forkhead-associated (FHA) domain (1);SMAD/FHA domain (1);	0.376195	0.27730	N	0.018089	T	0.14098	0.0341	N	0.17800	0.525	0.25238	N	0.989771	B;B	0.27498	0.18;0.049	B;B	0.29176	0.099;0.026	T	0.17806	-1.0357	10	0.30854	T	0.27	.	4.9844	0.14182	0.1676:0.6562:0.0:0.1762	.	72;72	F8WET0;Q8IW19	.;APLF_HUMAN	F	72	ENSP00000307004:L72F	ENSP00000307004:L72F	L	+	1	0	APLF	68583412	0.666000	0.27475	0.993000	0.49108	0.237000	0.25408	0.412000	0.21131	0.703000	0.31848	0.655000	0.94253	CTC		0.303	APLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251759.1	NM_173545		31	76	0	0	0	0	31	76				
LCT	3938	broad.mit.edu	37	2	136546023	136546023	+	Silent	SNP	G	G	A			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr2:136546023G>A	ENST00000264162.2	-	17	5665	c.5655C>T	c.(5653-5655)taC>taT	p.Y1885Y		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1885					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	AAAAGAGAACGTACAAAGCTG	0.522																																						uc002tuu.1		NA																	0				ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1)	13						c.(5653-5655)TAC>TAT		lactase-phlorizin hydrolase preproprotein							182.0	173.0	176.0					2																	136546023		2203	4300	6503	SO:0001819	synonymous_variant	3938				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	g.chr2:136546023G>A	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.5655C>T	2.37:g.136546023G>A							p.Y1885Y	NM_002299	NP_002290	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	17	5666	-			1885			Helical; (Potential).		Q4ZG58	Silent	SNP	ENST00000264162.2	37	c.5655C>T	CCDS2178.1																																																																																				0.522	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		31	146	0	0	0	0	31	146				
LRP1B	53353	broad.mit.edu	37	2	141946119	141946119	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr2:141946119C>T	ENST00000389484.3	-	7	1855	c.884G>A	c.(883-885)cGa>cAa	p.R295Q		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	295					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATAGAGATTTCGAGTGAGCCA	0.408										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1		NA																	0				lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(883-885)CGA>CAA		low density lipoprotein-related protein 1B							105.0	93.0	97.0					2																	141946119		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141946119C>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.884G>A	2.37:g.141946119C>T	ENSP00000374135:p.Arg295Gln	TSP Lung(27;0.18)				LRP1B_uc010fnl.1_Intron	p.R295Q	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	7	1856	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	295			Extracellular (Potential).|LDL-receptor class B 2.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.884G>A	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	19.42	3.824873	0.71143	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.96041	-3.89	5.2	5.2	0.72013	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.073683	0.53938	U	0.000048	D	0.93213	0.7838	L	0.45581	1.43	0.34198	D	0.672794	B	0.29552	0.248	B	0.27608	0.081	D	0.93997	0.7272	10	0.33940	T	0.23	.	18.7278	0.91720	0.0:1.0:0.0:0.0	.	295	Q9NZR2	LRP1B_HUMAN	Q	295;233	ENSP00000374135:R295Q	ENSP00000374135:R295Q	R	-	2	0	LRP1B	141662589	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.937000	0.70162	2.406000	0.81754	0.655000	0.94253	CGA		0.408	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		13	26	0	0	0	0	13	26				
FN1	2335	broad.mit.edu	37	2	216298182	216298182	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr2:216298182C>T	ENST00000359671.1	-	3	545	c.280G>A	c.(280-282)Gaa>Aaa	p.E94K	FN1_ENST00000426059.1_Missense_Mutation_p.E94K|FN1_ENST00000357867.4_Missense_Mutation_p.E94K|FN1_ENST00000336916.4_Missense_Mutation_p.E94K|FN1_ENST00000443816.1_Missense_Mutation_p.E94K|FN1_ENST00000345488.5_Missense_Mutation_p.E94K|FN1_ENST00000346544.3_Missense_Mutation_p.E94K|FN1_ENST00000356005.4_Missense_Mutation_p.E94K|FN1_ENST00000446046.1_Missense_Mutation_p.E94K|AC012462.1_ENST00000412951.1_RNA|FN1_ENST00000432072.2_Missense_Mutation_p.E94K|FN1_ENST00000421182.1_Missense_Mutation_p.E94K|FN1_ENST00000354785.4_Missense_Mutation_p.E94K|FN1_ENST00000323926.6_Missense_Mutation_p.E94K|FN1_ENST00000357009.2_Missense_Mutation_p.E94K			P02751	FINC_HUMAN	fibronectin 1	94	Fibrin- and heparin-binding 1.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	CAAGTCTCTTCAGCTGAGGGG	0.468																																						uc002vfa.2		NA																	0				central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13						c.(280-282)GAA>AAA		fibronectin 1 isoform 1 preproprotein	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						90.0	72.0	78.0					2																	216298182		2203	4300	6503	SO:0001583	missense	2335				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	g.chr2:216298182C>T		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.280G>A	2.37:g.216298182C>T	ENSP00000352696:p.Glu94Lys					FN1_uc002vfb.2_Missense_Mutation_p.E94K|FN1_uc002vfc.2_Missense_Mutation_p.E94K|FN1_uc002vfd.2_Missense_Mutation_p.E94K|FN1_uc002vfe.2_Missense_Mutation_p.E94K|FN1_uc002vff.2_Missense_Mutation_p.E94K|FN1_uc002vfg.2_Missense_Mutation_p.E94K|FN1_uc002vfh.2_Missense_Mutation_p.E94K|FN1_uc002vfi.2_Missense_Mutation_p.E94K|FN1_uc002vfj.2_Missense_Mutation_p.E94K|FN1_uc002vfl.2_Missense_Mutation_p.E94K	p.E94K	NM_212482	NP_997647	P02751	FINC_HUMAN		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	3	546	-		Renal(323;0.127)	94			Fibrin- and heparin-binding 1.		B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	ENST00000359671.1	37	c.280G>A		.	.	.	.	.	.	.	.	.	.	C	36	5.959977	0.97145	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005;ENST00000426059	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.22945	1.93;1.93;1.93;1.93;1.93;1.93;1.93;1.93;1.93;1.93;1.93;1.93;1.93;1.93	6.07	6.07	0.98685	.	0.000000	0.64402	D	0.000001	T	0.45756	0.1358	L	0.36672	1.1	0.80722	D	1	D;D;D;P;D;D;D;D;D;D;D	0.89917	0.997;0.994;0.99;0.917;0.998;0.997;1.0;0.986;0.998;0.998;0.987	D;D;D;P;D;D;D;D;D;D;D	0.91635	0.995;0.992;0.92;0.716;0.994;0.985;0.999;0.968;0.994;0.994;0.992	T	0.25572	-1.0128	10	0.72032	D	0.01	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	94;94;94;94;94;94;94;94;94;94;94	E9PG29;P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15	.;.;.;.;.;.;.;.;.;.;.	K	94	ENSP00000394423:E94K;ENSP00000323534:E94K;ENSP00000338200:E94K;ENSP00000350534:E94K;ENSP00000346839:E94K;ENSP00000352696:E94K;ENSP00000265312:E94K;ENSP00000273049:E94K;ENSP00000349509:E94K;ENSP00000410422:E94K;ENSP00000415018:E94K;ENSP00000399538:E94K;ENSP00000348285:E94K;ENSP00000398907:E94K	ENSP00000265313:E94K	E	-	1	0	FN1	216006427	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.260000	0.78391	2.885000	0.99019	0.655000	0.94253	GAA		0.468	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		10	32	0	0	0	0	10	32				
KCNB1	3745	broad.mit.edu	37	20	47991218	47991218	+	Silent	SNP	G	G	A			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr20:47991218G>A	ENST00000371741.4	-	2	1045	c.879C>T	c.(877-879)cgC>cgT	p.R293R		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	293					energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|dendrite membrane (GO:0032590)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Dalfampridine(DB06637)	GGACCACGCGGCGGACATTCT	0.537																																						uc002xur.1		NA																	0				pancreas(1)|skin(1)	2						c.(877-879)CGC>CGT		potassium voltage-gated channel, Shab-related							87.0	81.0	83.0					20																	47991218		2203	4300	6503	SO:0001819	synonymous_variant	3745				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr20:47991218G>A	AF026005	CCDS13418.1	20q13.2	2012-07-05			ENSG00000158445	ENSG00000158445		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6231	protein-coding gene	gene with protein product		600397				7774931, 16382104	Standard	NM_004975		Approved	Kv2.1	uc002xur.1	Q14721	OTTHUMG00000033051	ENST00000371741.4:c.879C>T	20.37:g.47991218G>A						KCNB1_uc002xus.1_Silent_p.R293R	p.R293R	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		2	1043	-			293					Q14193	Silent	SNP	ENST00000371741.4	37	c.879C>T	CCDS13418.1																																																																																				0.537	KCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080374.3	NM_004975		20	34	0	0	0	0	20	34				
STAB1	23166	broad.mit.edu	37	3	52553341	52553341	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr3:52553341G>A	ENST00000321725.6	+	49	5172	c.5096G>A	c.(5095-5097)gGc>gAc	p.G1699D		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1699	FAS1 5. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)	p.G1699D(1)		breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GCCGTGAACGGCATCCTGCAC	0.642																																						uc003dej.2		NA																	1	Substitution - Missense(1)	p.G1699D(1)	upper_aerodigestive_tract(1)	large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	9						c.(5095-5097)GGC>GAC		stabilin 1 precursor							128.0	128.0	128.0					3																	52553341		2203	4299	6502	SO:0001583	missense	23166				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr3:52553341G>A	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"""MS-1 antigen"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1"", ""common lymphatic endothelial and vascular endothelial receptor-1"""	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.5096G>A	3.37:g.52553341G>A	ENSP00000312946:p.Gly1699Asp					STAB1_uc003dek.1_5'UTR|STAB1_uc003del.2_5'Flank	p.G1699D	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)	49	5170	+			1699			Extracellular (Potential).|FAS1 5.		A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP	ENST00000321725.6	37	c.5096G>A	CCDS33768.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.096549	0.76870	.	.	ENSG00000010327	ENST00000321725	D	0.94138	-3.36	5.5	5.5	0.81552	FAS1 domain (5);	0.000000	0.85682	D	0.000000	D	0.97816	0.9283	H	0.95780	3.72	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98905	1.0778	10	0.87932	D	0	.	17.5833	0.87973	0.0:0.0:1.0:0.0	.	1699	Q9NY15	STAB1_HUMAN	D	1699	ENSP00000312946:G1699D	ENSP00000312946:G1699D	G	+	2	0	STAB1	52528381	1.000000	0.71417	0.660000	0.29694	0.002000	0.02628	7.474000	0.81024	2.574000	0.86865	0.655000	0.94253	GGC		0.642	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136		63	76	0	0	0	0	63	76				
ARF4	378	broad.mit.edu	37	3	57569702	57569702	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr3:57569702T>C	ENST00000303436.6	-	3	448	c.181A>G	c.(181-183)Att>Gtt	p.I61V	ARF4_ENST00000489843.1_Intron|ARF4_ENST00000493378.1_5'UTR|ARF4_ENST00000496292.1_Missense_Mutation_p.I34V	NM_001660.3	NP_001651.1	P18085	ARF4_HUMAN	ADP-ribosylation factor 4	61					activation of phospholipase D activity (GO:0031584)|brain development (GO:0007420)|cell migration (GO:0016477)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ADP-ribosylation (GO:0006471)|protein transport (GO:0015031)|regulation of reactive oxygen species metabolic process (GO:2000377)|response to axon injury (GO:0048678)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|ruffle membrane (GO:0032587)	epidermal growth factor receptor binding (GO:0005154)|GTP binding (GO:0005525)	p.I61V(1)		large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.0449)|Kidney(284;0.0561)		GTGAAACAAATGTTCTTATAT	0.353																																						uc003dix.3		NA																	1	Substitution - Missense(1)	p.I61V(1)	upper_aerodigestive_tract(1)	upper_aerodigestive_tract(1)	1						c.(181-183)ATT>GTT		ADP-ribosylation factor 4							87.0	85.0	86.0					3																	57569702		2203	4300	6503	SO:0001583	missense	378				protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	Golgi apparatus	GTP binding|GTPase activity	g.chr3:57569702T>C	M36341	CCDS2884.1	3p21.2-p21.1	2007-03-19			ENSG00000168374	ENSG00000168374		"""ADP-ribosylation factors"""	655	protein-coding gene	gene with protein product		601177	"""ADP-ribosylation factor 2"""	ARF2		2107548	Standard	NM_001660		Approved		uc003dix.4	P18085	OTTHUMG00000158601	ENST00000303436.6:c.181A>G	3.37:g.57569702T>C	ENSP00000306010:p.Ile61Val					ARF4_uc003diy.3_RNA|ARF4_uc010hnd.2_Missense_Mutation_p.I34V|ARF4_uc003diz.3_Intron	p.I61V	NM_001660	NP_001651	P18085	ARF4_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0449)|Kidney(284;0.0561)	3	529	-			61					B2R7J7|P21371	Missense_Mutation	SNP	ENST00000303436.6	37	c.181A>G	CCDS2884.1	.	.	.	.	.	.	.	.	.	.	T	27.9	4.875281	0.91664	.	.	ENSG00000168374	ENST00000303436;ENST00000496292;ENST00000463880	T;T;T	0.62105	0.05;0.05;0.05	5.83	5.83	0.93111	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.54319	0.1851	L	0.27944	0.81	0.80722	D	1	B;B	0.17667	0.015;0.023	B;B	0.27608	0.081;0.044	T	0.52403	-0.8580	10	0.59425	D	0.04	-6.3999	16.194	0.82011	0.0:0.0:0.0:1.0	.	34;61	C9JAK5;P18085	.;ARF4_HUMAN	V	61;34;61	ENSP00000306010:I61V;ENSP00000417501:I34V;ENSP00000420254:I61V	ENSP00000306010:I61V	I	-	1	0	ARF4	57544742	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.242000	0.72376	2.225000	0.72522	0.460000	0.39030	ATT		0.353	ARF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351443.1	NM_001660		26	35	0	0	0	0	26	35				
GPR149	344758	broad.mit.edu	37	3	154055685	154055685	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr3:154055685C>T	ENST00000389740.2	-	4	2098	c.1999G>A	c.(1999-2001)Ggg>Agg	p.G667R		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	667					antral ovarian follicle growth (GO:0001547)|estrous cycle phase (GO:0060206)|negative regulation of ovulation (GO:0060280)|preantral ovarian follicle growth (GO:0001546)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			GCTGTTTCCCCTAGGTCACAT	0.438																																						uc003faa.2		NA																	0				ovary(6)	6						c.(1999-2001)GGG>AGG		G protein-coupled receptor 149							236.0	218.0	224.0					3																	154055685		1961	4156	6117	SO:0001583	missense	344758					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:154055685C>T	AY255534	CCDS43162.1	3q25.2	2012-08-21			ENSG00000174948	ENSG00000174948		"""GPCR / Class A : Orphans"""	23627	protein-coding gene	gene with protein product						12679517	Standard	NM_001038705		Approved	PGR10, IEDA	uc003faa.3	Q86SP6	OTTHUMG00000159131	ENST00000389740.2:c.1999G>A	3.37:g.154055685C>T	ENSP00000374390:p.Gly667Arg						p.G667R	NM_001038705	NP_001033794	Q86SP6	GP149_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)		4	2099	-			667			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000389740.2	37	c.1999G>A	CCDS43162.1	.	.	.	.	.	.	.	.	.	.	C	18.46	3.628492	0.67015	.	.	ENSG00000174948	ENST00000389740	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.67646	0.2915	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.69910	-0.5017	9	0.87932	D	0	-19.6782	20.6439	0.99570	0.0:1.0:0.0:0.0	.	667	Q86SP6	GP149_HUMAN	R	667	.	ENSP00000374390:G667R	G	-	1	0	GPR149	155538379	1.000000	0.71417	0.958000	0.39756	0.117000	0.20001	7.494000	0.81503	2.890000	0.99128	0.650000	0.86243	GGG		0.438	GPR149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353430.1	XM_293580		4	143	0	0	0	0	4	143				
GABRA4	2557	broad.mit.edu	37	4	46930431	46930431	+	Silent	SNP	G	G	A			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr4:46930431G>A	ENST00000264318.3	-	9	2458	c.1476C>T	c.(1474-1476)acC>acT	p.T492T		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	492					central nervous system development (GO:0007417)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|regulation of response to drug (GO:2001023)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	TAGCCCCTATGGTATTAACTG	0.473																																					Ovarian(6;283 369 8234 12290 33402)	uc003gxg.2		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|breast(1)	4						c.(1474-1476)ACC>ACT		gamma-aminobutyric acid A receptor, alpha 4	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						156.0	146.0	150.0					4																	46930431		2203	4300	6503	SO:0001819	synonymous_variant	2557				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:46930431G>A		CCDS3473.1	4p12	2012-06-22			ENSG00000109158	ENSG00000109158		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4078	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 4"""	137141				7607683	Standard	NM_000809		Approved		uc021xnz.1	P48169	OTTHUMG00000099431	ENST00000264318.3:c.1476C>T	4.37:g.46930431G>A							p.T492T	NM_000809	NP_000800	P48169	GBRA4_HUMAN			9	1615	-			492			Cytoplasmic (Probable).		Q8IYR7	Silent	SNP	ENST00000264318.3	37	c.1476C>T	CCDS3473.1																																																																																				0.473	GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216893.1			16	77	0	0	0	0	16	77				
LPHN3	23284	broad.mit.edu	37	4	62598970	62598970	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr4:62598970A>T	ENST00000514591.1	+	7	1222	c.893A>T	c.(892-894)gAa>gTa	p.E298V	LPHN3_ENST00000508946.1_Missense_Mutation_p.E298V|LPHN3_ENST00000514996.1_Missense_Mutation_p.E298V|LPHN3_ENST00000504896.1_Missense_Mutation_p.E298V|LPHN3_ENST00000512091.2_Missense_Mutation_p.E298V|LPHN3_ENST00000507625.1_Missense_Mutation_p.E366V|LPHN3_ENST00000508693.1_Missense_Mutation_p.E366V|LPHN3_ENST00000509896.1_Missense_Mutation_p.E366V|LPHN3_ENST00000511324.1_Missense_Mutation_p.E366V|LPHN3_ENST00000545650.1_Missense_Mutation_p.E298V|LPHN3_ENST00000514157.1_Missense_Mutation_p.E298V|LPHN3_ENST00000506720.1_Missense_Mutation_p.E366V|LPHN3_ENST00000506746.1_Missense_Mutation_p.E366V|LPHN3_ENST00000506700.1_Missense_Mutation_p.E298V|LPHN3_ENST00000507164.1_Missense_Mutation_p.E366V			Q9HAR2	LPHN3_HUMAN	latrophilin 3	298	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						CTACGGATCGAAGGAACATGG	0.393																																						uc010ihh.2		NA																	0				lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1)	18						c.(892-894)GAA>GTA		latrophilin 3 precursor							109.0	95.0	99.0					4																	62598970		1898	4130	6028	SO:0001583	missense	23284				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr4:62598970A>T	AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.893A>T	4.37:g.62598970A>T	ENSP00000422533:p.Glu298Val					LPHN3_uc003hcq.3_Missense_Mutation_p.E298V|LPHN3_uc010ihg.1_Missense_Mutation_p.E366V|LPHN3_uc003hcs.1_Missense_Mutation_p.E127V	p.E298V	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN			5	1066	+			298			Extracellular (Potential).|Olfactomedin-like.		E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	37	c.893A>T	CCDS54768.1	.	.	.	.	.	.	.	.	.	.	A	16.69	3.193501	0.58017	.	.	ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000534975;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89939	-2.59;-2.59;-2.59;-2.59;-2.59;-2.59;-2.59;-2.59;-2.59;-2.59;-2.59;-2.59;-2.59;-2.59;-2.59	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	D	0.93871	0.8039	M	0.75884	2.315	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;0.989	D;D;D	0.87578	0.998;0.998;0.985	D	0.94552	0.7754	10	0.87932	D	0	.	14.4261	0.67218	1.0:0.0:0.0:0.0	.	298;366;298	E9PE04;E7EN28;Q9HAR2-2	.;.;.	V	298;298;366;366;298;298;298;298;298;366;366;366;298;298;298;366;366;298	ENSP00000423388:E298V;ENSP00000422533:E298V;ENSP00000423787:E366V;ENSP00000425033:E366V;ENSP00000424120:E298V;ENSP00000439831:E298V;ENSP00000421476:E366V;ENSP00000424030:E366V;ENSP00000421372:E366V;ENSP00000425201:E298V;ENSP00000423434:E298V;ENSP00000421627:E298V;ENSP00000420931:E366V;ENSP00000425884:E366V;ENSP00000424258:E298V	ENSP00000280009:E298V	E	+	2	0	LPHN3	62281565	1.000000	0.71417	1.000000	0.80357	0.662000	0.39071	7.327000	0.79147	1.999000	0.58509	0.455000	0.32223	GAA		0.393	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			8	37	0	0	0	0	8	37				
UGT2B11	10720	broad.mit.edu	37	4	70071211	70071211	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr4:70071211C>G	ENST00000446444.1	-	4	1085	c.1077G>C	c.(1075-1077)caG>caC	p.Q359H	RP11-704M14.1_ENST00000504301.1_RNA|RP11-704M14.1_ENST00000505646.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	359					estrogen metabolic process (GO:0008210)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						GAAGGTCATTCTGGGGTATCC	0.373																																						uc003heh.2		NA																	0				ovary(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	3						c.(1075-1077)CAG>CAC		UDP glucuronosyltransferase 2 family,							107.0	107.0	107.0					4																	70071211		2203	4297	6500	SO:0001583	missense	10720				estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70071211C>G	AF016492	CCDS3527.1	4q13.3	2008-02-05	2005-07-20		ENSG00000213759	ENSG00000213759		"""UDP glucuronosyltransferases"""	12545	protein-coding gene	gene with protein product		603064	"""UDP glycosyltransferase 2 family, polypeptide B11"""			9675083	Standard	NM_001073		Approved		uc003heh.3	O75310	OTTHUMG00000129395	ENST00000446444.1:c.1077G>C	4.37:g.70071211C>G	ENSP00000387683:p.Gln359His					uc003hei.1_Intron	p.Q359H	NM_001073	NP_001064	O75310	UDB11_HUMAN			4	1086	-			359					Q3KNV9	Missense_Mutation	SNP	ENST00000446444.1	37	c.1077G>C	CCDS3527.1	.	.	.	.	.	.	.	.	.	.	-	15.77	2.930713	0.52866	.	.	ENSG00000213759	ENST00000446444	T	0.73789	-0.78	2.02	2.02	0.26589	.	0.000000	0.64402	U	0.000003	D	0.89812	0.6823	H	0.98682	4.3	0.25433	N	0.988166	D	0.89917	1.0	D	0.76071	0.987	T	0.81116	-0.1079	10	0.87932	D	0	.	9.7006	0.40184	0.0:1.0:0.0:0.0	.	359	O75310	UDB11_HUMAN	H	359	ENSP00000387683:Q359H	ENSP00000387683:Q359H	Q	-	3	2	UGT2B11	70105800	0.999000	0.42202	0.785000	0.31869	0.212000	0.24457	0.561000	0.23515	1.127000	0.42034	0.184000	0.17185	CAG		0.373	UGT2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251551.2	NM_001073		7	127	0	0	0	0	7	127				
CDS1	1040	broad.mit.edu	37	4	85566477	85566477	+	Splice_Site	SNP	A	A	T			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr4:85566477A>T	ENST00000295887.5	+	12	1678	c.1255A>T	c.(1255-1257)Agg>Tgg	p.R419W		NM_001263.3	NP_001254.2	O96017	CHK2_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1	0	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1)	20		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.00101)		AAGTTTTATAAGGTACTTTTA	0.328																																						uc011ccv.1		NA																	0				large_intestine(2)|ovary(1)|breast(1)	4						c.(1255-1257)AGG>TGG		CDP-diacylglycerol synthase 1							151.0	147.0	148.0					4																	85566477		2203	4300	6503	SO:0001630	splice_region_variant	1040				signal transduction|visual perception	endoplasmic reticulum membrane|integral to membrane	diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity	g.chr4:85566477A>T	U65887	CCDS3608.1	4q21	2008-02-05			ENSG00000163624	ENSG00000163624	2.7.7.41		1800	protein-coding gene	gene with protein product		603548				9806839, 9115637	Standard	NM_001263		Approved		uc011ccv.2	Q92903	OTTHUMG00000130428	ENST00000295887.5:c.1256+1A>T	4.37:g.85566477A>T						CDS1_uc010ike.1_3'UTR	p.R419W	NM_001263	NP_001254	Q92903	CDS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00101)	12	1753	+		Hepatocellular(203;0.114)	419					A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	SNP	ENST00000295887.5	37	c.1255A>T	CCDS3608.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.409798	0.83340	.	.	ENSG00000163624	ENST00000295887	T	0.50277	0.75	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.69187	0.3083	M	0.81802	2.56	0.80722	D	1	D	0.76494	0.999	D	0.67103	0.949	T	0.74256	-0.3724	10	0.72032	D	0.01	-9.5007	15.4093	0.74905	1.0:0.0:0.0:0.0	.	419	Q92903	CDS1_HUMAN	W	419	ENSP00000295887:R419W	ENSP00000295887:R419W	R	+	1	2	CDS1	85785501	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	5.930000	0.70104	2.230000	0.72887	0.533000	0.62120	AGG		0.328	CDS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252817.2		Missense_Mutation	29	30	0	0	0	0	29	30				
ADAM29	11086	broad.mit.edu	37	4	175897355	175897355	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr4:175897355G>T	ENST00000359240.3	+	5	1349	c.679G>T	c.(679-681)Gtt>Ttt	p.V227F	RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000404450.4_Missense_Mutation_p.V227F|ADAM29_ENST00000445694.1_Missense_Mutation_p.V227F|ADAM29_ENST00000514159.1_Missense_Mutation_p.V227F	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	227	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		GGATCTATATGTTATTGTTAA	0.338																																					Ovarian(140;1727 1835 21805 25838 41440)	uc003iuc.2		NA																	0				skin(5)|central_nervous_system(3)|ovary(3)|large_intestine(2)|lung(2)|pancreas(1)	16						c.(679-681)GTT>TTT		ADAM metallopeptidase domain 29 preproprotein							87.0	90.0	89.0					4																	175897355		2203	4300	6503	SO:0001583	missense	11086				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr4:175897355G>T	AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"""ADAM metallopeptidase domain containing"""	207	protein-coding gene	gene with protein product	"""cancer/testis antigen 73"""	604778	"""a disintegrin and metalloproteinase domain 29"""			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.679G>T	4.37:g.175897355G>T	ENSP00000352177:p.Val227Phe					ADAM29_uc003iud.2_Missense_Mutation_p.V227F|ADAM29_uc010irr.2_Missense_Mutation_p.V227F|ADAM29_uc011cki.1_Missense_Mutation_p.V227F	p.V227F	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)	5	1349	+		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	227			Peptidase M12B.|Extracellular (Potential).		Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Missense_Mutation	SNP	ENST00000359240.3	37	c.679G>T	CCDS3823.1	.	.	.	.	.	.	.	.	.	.	G	5.524	0.281615	0.10458	.	.	ENSG00000168594	ENST00000359240;ENST00000445694;ENST00000404450;ENST00000514159	T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02	3.61	-7.21	0.01490	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	3.130870	0.01855	U	0.036221	T	0.47544	0.1451	L	0.47716	1.5	0.09310	N	1	B	0.28900	0.227	B	0.30646	0.118	T	0.30794	-0.9966	9	.	.	.	.	0.9033	0.01279	0.4095:0.1184:0.1407:0.3313	.	227	Q9UKF5	ADA29_HUMAN	F	227	ENSP00000352177:V227F;ENSP00000414544:V227F;ENSP00000384229:V227F;ENSP00000423517:V227F	.	V	+	1	0	ADAM29	176133930	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.192000	0.00564	-2.292000	0.00665	-0.311000	0.09066	GTT		0.338	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding				23	42	1	0	1.11e-12	1.26e-12	23	42				
FAT1	2195	broad.mit.edu	37	4	187518254	187518254	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr4:187518254C>T	ENST00000441802.2	-	25	12649	c.12440G>A	c.(12439-12441)gGc>gAc	p.G4147D	FAT1_ENST00000512347.1_5'Flank	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	4147	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GTGATAGGAGCCGTGCGTGTT	0.587										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	uc003izf.2		NA																	0				ovary(10)|central_nervous_system(1)|pancreas(1)	12						c.(12439-12441)GGC>GAC		FAT tumor suppressor 1 precursor							51.0	54.0	53.0					4																	187518254		2108	4227	6335	SO:0001583	missense	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187518254C>T	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.12440G>A	4.37:g.187518254C>T	ENSP00000406229:p.Gly4147Asp	HNSCC(5;0.00058)				FAT1_uc010isn.2_5'Flank|FAT1_uc003ize.2_Missense_Mutation_p.G38D	p.G4147D	NM_005245	NP_005236	Q14517	FAT1_HUMAN			25	12628	-			4147			Extracellular (Potential).|EGF-like 5; calcium-binding (Potential).			Missense_Mutation	SNP	ENST00000441802.2	37	c.12440G>A	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.226521	0.79576	.	.	ENSG00000083857	ENST00000441802;ENST00000260147;ENST00000507105	D	0.99557	-6.16	4.86	4.86	0.63082	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99390	0.9785	L	0.60012	1.86	0.80722	D	1	D	0.71674	0.998	D	0.66351	0.943	D	0.99331	1.0909	10	0.33940	T	0.23	.	18.1658	0.89724	0.0:1.0:0.0:0.0	.	4147	Q14517	FAT1_HUMAN	D	4147;4149;79	ENSP00000406229:G4147D	ENSP00000260147:G4149D	G	-	2	0	FAT1	187755248	1.000000	0.71417	0.998000	0.56505	0.412000	0.31113	7.651000	0.83577	2.541000	0.85698	0.561000	0.74099	GGC		0.587	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		9	16	0	0	0	0	9	16				
ANKH	56172	broad.mit.edu	37	5	14716914	14716914	+	Missense_Mutation	SNP	C	C	T	rs148228793		TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr5:14716914C>T	ENST00000284268.6	-	9	1372	c.1042G>A	c.(1042-1044)Gtg>Atg	p.V348M	ANKH_ENST00000535119.1_Missense_Mutation_p.V150M	NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN	ANKH inorganic pyrophosphate transport regulator	348					locomotory behavior (GO:0007626)|regulation of bone mineralization (GO:0030500)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|outer membrane (GO:0019867)|plasma membrane (GO:0005886)	inorganic diphosphate transmembrane transporter activity (GO:0030504)|inorganic phosphate transmembrane transporter activity (GO:0005315)|phosphate ion transmembrane transporter activity (GO:0015114)	p.V348M(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						TTCTCAGACACGTTGGGTGTC	0.463																																						uc003jfm.3		NA																	1	Substitution - Missense(1)	p.V348M(1)	upper_aerodigestive_tract(1)	upper_aerodigestive_tract(1)	1						c.(1042-1044)GTG>ATG		progressive ankylosis protein		C	MET/VAL	0,4406		0,0,2203	80.0	75.0	77.0		1042	5.7	1.0	5	dbSNP_134	77	2,8598	2.2+/-6.3	0,2,4298	no	missense	ANKH	NM_054027.4	21	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	possibly-damaging	348/493	14716914	2,13004	2203	4300	6503	SO:0001583	missense	56172				locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity	g.chr5:14716914C>T	AF274753	CCDS3885.1	5p15.2	2013-06-19	2013-06-19		ENSG00000154122	ENSG00000154122			15492	protein-coding gene	gene with protein product		605145	"""ankylosis, progressive (mouse) homolog"", ""craniometaphyseal dysplasia, Jackson type (dominant)"", ""ankylosis, progressive homolog (mouse)"""	CCAL2, CMDJ		10894769, 12297989, 11326338	Standard	NM_054027		Approved	HANK, ANK, CPPDD	uc003jfm.4	Q9HCJ1	OTTHUMG00000090539	ENST00000284268.6:c.1042G>A	5.37:g.14716914C>T	ENSP00000284268:p.Val348Met					ANKH_uc003jfl.3_Missense_Mutation_p.V61M	p.V348M	NM_054027	NP_473368	Q9HCJ1	ANKH_HUMAN			9	1373	-			348			Extracellular (Potential).		B2RCA7|B3KMG4|D3DTD4|Q9NQW2	Missense_Mutation	SNP	ENST00000284268.6	37	c.1042G>A	CCDS3885.1	.	.	.	.	.	.	.	.	.	.	C	16.13	3.037077	0.54896	0.0	2.33E-4	ENSG00000154122	ENST00000535119;ENST00000284268	D;D	0.95949	-3.38;-3.86	5.7	5.7	0.88788	.	0.178614	0.49305	D	0.000158	D	0.89787	0.6816	N	0.24115	0.695	0.58432	D	0.999996	P	0.46859	0.885	B	0.28709	0.093	D	0.91321	0.5082	10	0.62326	D	0.03	-38.3696	18.8353	0.92159	0.0:1.0:0.0:0.0	.	348	Q9HCJ1	ANKH_HUMAN	M	150;348	ENSP00000442524:V150M;ENSP00000284268:V348M	ENSP00000284268:V348M	V	-	1	0	ANKH	14769914	0.983000	0.35010	0.979000	0.43373	0.712000	0.41017	2.522000	0.45572	2.688000	0.91661	0.655000	0.94253	GTG		0.463	ANKH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207063.1	NM_054027		8	23	0	0	0	0	8	23				
HMGCR	3156	broad.mit.edu	37	5	74655134	74655134	+	Splice_Site	SNP	A	A	G			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr5:74655134A>G	ENST00000287936.4	+	17	2453	c.2297A>G	c.(2296-2298)cAg>cGg	p.Q766R	HMGCR_ENST00000511206.1_Splice_Site_p.Q766R|HMGCR_ENST00000343975.5_Splice_Site_p.Q713R	NM_000859.2	NP_000850.1	P04035	HMDH_HUMAN	3-hydroxy-3-methylglutaryl-CoA reductase	766	Catalytic.				aging (GO:0007568)|cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|coenzyme A metabolic process (GO:0015936)|isoprenoid biosynthetic process (GO:0008299)|myoblast differentiation (GO:0045445)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of striated muscle cell apoptotic process (GO:0010664)|negative regulation of vasodilation (GO:0045908)|negative regulation of wound healing (GO:0061045)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein tetramerization (GO:0051262)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|ubiquinone metabolic process (GO:0006743)|visual learning (GO:0008542)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|peroxisomal membrane (GO:0005778)	coenzyme binding (GO:0050662)|hydroxymethylglutaryl-CoA reductase (NADPH) activity (GO:0004420)|hydroxymethylglutaryl-CoA reductase activity (GO:0042282)|NADPH binding (GO:0070402)			breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Atorvastatin(DB01076)|Fluvastatin(DB01095)|Lovastatin(DB00227)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)	GCCTGTGGACAGGTGAGCTCT	0.453																																						uc003kdp.2		NA																	0				ovary(1)	1						c.(2296-2298)CAG>CGG		3-hydroxy-3-methylglutaryl-Coenzyme A reductase	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)						85.0	81.0	82.0					5																	74655134		2203	4300	6503	SO:0001630	splice_region_variant	3156				cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane	hydroxymethylglutaryl-CoA reductase (NADPH) activity|NADP binding	g.chr5:74655134A>G		CCDS4027.1, CCDS47234.1	5q13.3-q14	2012-10-02	2010-04-30		ENSG00000113161	ENSG00000113161	1.1.1.88, 1.1.1.34		5006	protein-coding gene	gene with protein product	"""hydroxymethylglutaryl-CoA reductase"", ""3-hydroxy-3-methylglutaryl CoA reductase (NADPH)"""	142910	"""3-hydroxy-3-methylglutaryl-Coenzyme A reductase"""				Standard	NM_000859		Approved		uc003kdp.3	P04035	OTTHUMG00000102069	ENST00000287936.4:c.2298+1A>G	5.37:g.74655134A>G						HMGCR_uc011cst.1_Missense_Mutation_p.Q786R|HMGCR_uc003kdq.2_Missense_Mutation_p.Q713R|HMGCR_uc010izo.2_Missense_Mutation_p.Q89R|HMGCR_uc010izp.2_Intron	p.Q766R	NM_000859	NP_000850	P04035	HMDH_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	17	2453	+		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)	766			Catalytic.		B7Z3Y9|Q8N190	Missense_Mutation	SNP	ENST00000287936.4	37	c.2297A>G	CCDS4027.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	22.3|22.3	4.268340|4.268340	0.80469|0.80469	.|.	.|.	ENSG00000113161|ENSG00000113161	ENST00000511206;ENST00000544469;ENST00000287936;ENST00000343975;ENST00000429286|ENST00000509085	T;T;T|.	0.59364|.	0.27;0.27;0.27|.	4.65|4.65	4.65|4.65	0.58169|0.58169	Hydroxymethylglutaryl-CoA reductase, class I/II, catalytic domain (1);Hydroxymethylglutaryl-CoA reductase, class I/II, substrate-binding (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.88112|0.88112	0.6349|0.6349	H|H	0.98155|0.98155	4.16|4.16	0.80722|0.80722	D|D	1|1	D;B;P;P|.	0.67145|.	0.996;0.01;0.825;0.955|.	D;B;B;D|.	0.72075|.	0.967;0.018;0.42;0.976|.	D|D	0.92296|0.92296	0.5845|0.5845	10|5	0.87932|.	D|.	0|.	-4.7365|-4.7365	14.0828|14.0828	0.64937|0.64937	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	766;196;713;766|.	B2R649;B4DSB1;P04035-2;P04035|.	.;.;.;HMDH_HUMAN|.	R|G	766;697;766;713;143|96	ENSP00000426745:Q766R;ENSP00000287936:Q766R;ENSP00000340816:Q713R|.	ENSP00000287936:Q766R|.	Q|R	+|+	2|1	0|2	HMGCR|HMGCR	74690890|74690890	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.922000|0.922000	0.55478|0.55478	9.244000|9.244000	0.95423|0.95423	1.723000|1.723000	0.51488|0.51488	0.533000|0.533000	0.62120|0.62120	CAG|AGA		0.453	HMGCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219877.2		Missense_Mutation	12	33	0	0	0	0	12	33				
CDYL	9425	broad.mit.edu	37	6	4935984	4935984	+	Silent	SNP	G	G	A			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr6:4935984G>A	ENST00000328908.5	+	5	1220	c.1089G>A	c.(1087-1089)gaG>gaA	p.E363E	CDYL_ENST00000397588.3_Silent_p.E309E|CDYL_ENST00000472453.1_3'UTR|CDYL_ENST00000449732.2_Silent_p.E177E|CDYL_ENST00000343762.5_Silent_p.E177E			Q9Y232	CDYL1_HUMAN	chromodomain protein, Y-like	363					regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|methylated histone binding (GO:0035064)|transcription corepressor activity (GO:0003714)			breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1)	30	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		AGTCCTCAGAGAATAACTCAC	0.532																																						uc003mwi.2		NA																	0					0						c.(1087-1089)GAG>GAA		chromodomain protein, Y chromosome-like isoform							100.0	95.0	97.0					6																	4935984		2203	4300	6503	SO:0001819	synonymous_variant	9425				regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	histone acetyltransferase activity	g.chr6:4935984G>A	AF081258	CCDS4491.2, CCDS47364.1	6p25.1	2010-05-04	2003-09-12		ENSG00000153046	ENSG00000153046			1811	protein-coding gene	gene with protein product	"""CDY-like, autosomal"", ""testis-specific chromodomain Y-like protein"""	603778	"""chromodomain protein, Y chromosome-like"""			10192397	Standard	NM_001143970		Approved	DKFZP586C1622, CDYL1	uc003mwj.3	Q9Y232	OTTHUMG00000014170	ENST00000328908.5:c.1089G>A	6.37:g.4935984G>A						CDYL_uc003mwj.2_Silent_p.E309E|CDYL_uc003mwk.2_Silent_p.E74E|CDYL_uc011dhx.1_Silent_p.E177E|CDYL_uc011dhy.1_Silent_p.E177E	p.E363E	NM_001143971	NP_001137443	Q9Y232	CDYL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.182)	5	1220	+	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)	363					A8K6D6|B4DLG4|Q0VDG7|Q32NC5|Q5VX99|Q6P7T5|Q9BWZ2|Q9Y424	Silent	SNP	ENST00000328908.5	37	c.1089G>A																																																																																					0.532	CDYL-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000039736.1	NM_004824		23	70	0	0	0	0	23	70				
GCM2	9247	broad.mit.edu	37	6	10874807	10874807	+	Silent	SNP	G	G	A			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr6:10874807G>A	ENST00000379491.4	-	5	1089	c.942C>T	c.(940-942)gtC>gtT	p.V314V	RP11-637O19.3_ENST00000480294.1_Intron|SYCP2L_ENST00000543878.1_Intron	NM_004752.3	NP_004743.1	O75603	GCM2_HUMAN	glial cells missing homolog 2 (Drosophila)	314					cell differentiation (GO:0030154)|cellular calcium ion homeostasis (GO:0006874)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to organic substance (GO:0071310)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|parathyroid gland development (GO:0060017)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				TGTATGAATTGACATTACATT	0.428																																						uc003mzn.3		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(940-942)GTC>GTT		glial cells missing homolog 2							165.0	156.0	160.0					6																	10874807		2203	4300	6503	SO:0001819	synonymous_variant	9247				cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|sequence-specific DNA binding	g.chr6:10874807G>A	AF079550	CCDS4517.1	6p24.2	2008-08-29	2001-11-28	2002-09-27	ENSG00000124827	ENSG00000124827			4198	protein-coding gene	gene with protein product		603716	"""glial cells missing (Drosophila) homolog b"""	GCMB		9928992	Standard	NM_004752		Approved	hGCMb	uc003mzn.4	O75603	OTTHUMG00000014249	ENST00000379491.4:c.942C>T	6.37:g.10874807G>A						SYCP2L_uc011dim.1_Intron	p.V314V	NM_004752	NP_004743	O75603	GCM2_HUMAN			5	1014	-	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	314					D3GDV6|Q5THN5	Silent	SNP	ENST00000379491.4	37	c.942C>T	CCDS4517.1																																																																																				0.428	GCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039844.1			52	131	0	0	0	0	52	131				
HLA-A	3105	broad.mit.edu	37	6	29910349	29910349	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr6:29910349C>T	ENST00000396634.1	+	3	360	c.19C>T	c.(19-21)Cga>Tga	p.R7*	HLA-A_ENST00000376809.5_Nonsense_Mutation_p.R7*|HLA-A_ENST00000376806.5_Nonsense_Mutation_p.R7*|HLA-A_ENST00000376802.2_Nonsense_Mutation_p.R7*			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	7					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						CATGGCGCCCCGAACCCTCCT	0.677									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																												uc003nol.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(19-21)CGA>TGA		major histocompatibility complex, class I, A							35.0	37.0	37.0					6																	29910349		2201	4296	6497	SO:0001587	stop_gained	3105	Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of|Osteosarcoma_Familial_Clustering_of|Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29910349C>T	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.19C>T	6.37:g.29910349C>T	ENSP00000379873:p.Arg7*	Multiple Myeloma(9;0.094)				HLA-G_uc011dmb.1_Intron|HCG4P6_uc003nog.1_Intron|HLA-A_uc010jrq.2_5'UTR|HLA-A_uc003nok.2_5'UTR|HLA-A_uc003non.2_Nonsense_Mutation_p.R7*|HLA-A_uc003noo.2_Nonsense_Mutation_p.R7*|HLA-A_uc010jrr.2_Nonsense_Mutation_p.R7*|HLA-A_uc003nom.2_5'UTR|HLA-A_uc010klp.2_5'Flank|HLA-A_uc011dmc.1_5'Flank|HLA-A_uc011dmd.1_5'Flank	p.R7*	NM_002116	NP_002107	P30443	1A01_HUMAN			1	19	+			7					O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Nonsense_Mutation	SNP	ENST00000396634.1	37	c.19C>T	CCDS34373.1	.	.	.	.	.	.	.	.	.	.	.	34	5.323259	0.95708	.	.	ENSG00000206503	ENST00000396634;ENST00000376806;ENST00000376809;ENST00000355767;ENST00000376802	.	.	.	3.72	-6.36	0.01969	.	6.449800	0.01184	U	0.007157	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.6254	0.12476	0.2481:0.1715:0.4911:0.0893	.	.	.	.	X	7	.	ENSP00000348012:R7X	R	+	1	2	HLA-A	30018328	0.000000	0.05858	0.000000	0.03702	0.047000	0.14425	-2.254000	0.01183	-1.159000	0.02807	-0.531000	0.04308	CGA		0.677	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116		11	33	0	0	0	0	11	33				
HSPA1L	3305	broad.mit.edu	37	6	31778484	31778484	+	Silent	SNP	G	G	A			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr6:31778484G>A	ENST00000375654.4	-	2	1455	c.1266C>T	c.(1264-1266)atC>atT	p.I422I	HSPA1L_ENST00000417199.3_Silent_p.I422I	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	422					binding of sperm to zona pellucida (GO:0007339)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	blood microparticle (GO:0072562)|cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						GCTTGGTGGGGATGGTGGAGT	0.597																																						uc003nxh.2		NA																	0				ovary(3)|pleura(1)|kidney(1)|skin(1)	6						c.(1264-1266)ATC>ATT		heat shock 70kDa protein 1-like							111.0	107.0	108.0					6																	31778484		2203	4300	6503	SO:0001819	synonymous_variant	3305				response to unfolded protein		ATP binding	g.chr6:31778484G>A	D85730	CCDS34413.1	6p21.3	2014-01-21	2002-08-29		ENSG00000204390	ENSG00000204390		"""Heat shock proteins / HSP70"""	5234	protein-coding gene	gene with protein product		140559	"""heat shock 70kD protein-like 1"""			9685725, 9349405	Standard	NM_005527		Approved	HSP70-HOM, hum70t	uc003nxh.3	P34931	OTTHUMG00000031208	ENST00000375654.4:c.1266C>T	6.37:g.31778484G>A						HSPA1L_uc010jte.2_Silent_p.I422I	p.I422I	NM_005527	NP_005518	P34931	HS71L_HUMAN			2	1449	-			422					A6NNB0|B0UXW8|O75634|Q2HXR3|Q8NE72|Q96QC9|Q9UQM1	Silent	SNP	ENST00000375654.4	37	c.1266C>T	CCDS34413.1																																																																																				0.597	HSPA1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076416.2			23	68	0	0	0	0	23	68				
RSPH9	221421	broad.mit.edu	37	6	43638533	43638533	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr6:43638533G>T	ENST00000372163.4	+	5	731	c.678G>T	c.(676-678)tgG>tgT	p.W226C	RSPH9_ENST00000372165.4_Nonsense_Mutation_p.E244*	NM_152732.4	NP_689945.2	Q9H1X1	RSPH9_HUMAN	radial spoke head 9 homolog (Chlamydomonas)	226					axoneme assembly (GO:0035082)|cilium movement (GO:0003341)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|motile cilium (GO:0031514)		p.W226C(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						CAGGGTCCTGGAGCATCCAGA	0.642									Kartagener syndrome																													uc003ovw.1		NA																	1	Substitution - Missense(1)	p.W226C(1)	upper_aerodigestive_tract(1)	upper_aerodigestive_tract(1)|skin(1)	2						c.(676-678)TGG>TGT		radial spoke head 9 homolog							72.0	62.0	65.0					6																	43638533		2203	4300	6503	SO:0001583	missense	221421	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton		g.chr6:43638533G>T	AK055407	CCDS4905.1, CCDS55005.1	6p21.1	2012-05-03	2009-02-17	2009-02-17	ENSG00000172426	ENSG00000172426			21057	protein-coding gene	gene with protein product		612648	"""mitochondrial ribosomal protein S18A-like 1"", ""chromosome 6 open reading frame 206"""	MRPS18AL1, C6orf206		19200523	Standard	NM_152732		Approved	FLJ30845, CILD12	uc003ovx.2	Q9H1X1	OTTHUMG00000014746	ENST00000372163.4:c.678G>T	6.37:g.43638533G>T	ENSP00000361236:p.Trp226Cys					RSPH9_uc003ovx.1_Nonsense_Mutation_p.E244*	p.W226C	NM_152732	NP_689945	Q9H1X1	RSPH9_HUMAN			5	704	+			226					A8K5T4|Q96NH9	Missense_Mutation	SNP	ENST00000372163.4	37	c.678G>T	CCDS4905.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.365793|5.365793	0.95900|0.95900	.|.	.|.	ENSG00000172426|ENSG00000172426	ENST00000372165|ENST00000372163	.|T	.|0.70749	.|-0.51	5.97|5.97	5.97|5.97	0.96955|0.96955	.|.	0.059957|.	0.64402|.	D|.	0.000003|.	.|D	.|0.83170	.|0.5196	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.81914	.|0.995	.|D	.|0.84375	.|0.0546	.|8	0.33940|0.87932	T|D	0.23|0	-13.3297|-13.3297	17.9218|17.9218	0.88969|0.88969	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|226	.|Q9H1X1	.|RSPH9_HUMAN	X|C	244|226	.|ENSP00000361236:W226C	ENSP00000361238:E244X|ENSP00000361236:W226C	E|W	+|+	1|3	0|0	RSPH9|RSPH9	43746511|43746511	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.907000|0.907000	0.53573|0.53573	9.120000|9.120000	0.94369|0.94369	2.837000|2.837000	0.97791|0.97791	0.655000|0.655000	0.94253|0.94253	GAG|TGG		0.642	RSPH9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040690.1	NM_152732		6	51	1	0	7.48e-07	8.34e-07	6	51				
WASF1	8936	broad.mit.edu	37	6	110423257	110423257	+	Silent	SNP	T	T	G			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr6:110423257T>G	ENST00000392589.1	-	10	1892	c.1056A>C	c.(1054-1056)gtA>gtC	p.V352V	WASF1_ENST00000359451.2_Silent_p.V352V|WASF1_ENST00000392587.2_Silent_p.V352V|WASF1_ENST00000392588.1_Silent_p.V352V|WASF1_ENST00000392586.1_Silent_p.V352V	NM_003931.2	NP_003922.1	Q92558	WASF1_HUMAN	WAS protein family, member 1	352	Poly-Pro.				actin filament polymerization (GO:0030041)|cellular component movement (GO:0006928)|lamellipodium morphogenesis (GO:0072673)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|protein complex assembly (GO:0006461)|Rac protein signal transduction (GO:0016601)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytoskeleton (GO:0005856)|lamellipodium (GO:0030027)|mitochondrial outer membrane (GO:0005741)|SCAR complex (GO:0031209)|synapse (GO:0045202)	protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687)		GTGGGGGAGGTACTGGAGGGG	0.572																																						uc003ptv.1		NA																	0					0						c.(1054-1056)GTA>GTC		Wiskott-Aldrich syndrome protein family member							80.0	83.0	82.0					6																	110423257		2203	4300	6503	SO:0001819	synonymous_variant	8936				actin filament polymerization|cellular component movement	actin cytoskeleton	actin binding	g.chr6:110423257T>G	D87459	CCDS5080.1	6q21	2010-08-20			ENSG00000112290	ENSG00000112290		"""A-kinase anchor proteins"""	12732	protein-coding gene	gene with protein product		605035				9843499, 9889097	Standard	XM_005267204		Approved	WAVE1, SCAR1, KIAA0269, WAVE	uc003pty.1	Q92558	OTTHUMG00000015357	ENST00000392589.1:c.1056A>C	6.37:g.110423257T>G						WASF1_uc003ptw.1_Silent_p.V352V|WASF1_uc003ptx.1_Silent_p.V352V|WASF1_uc003pty.1_Silent_p.V352V	p.V352V	NM_003931	NP_003922	Q92558	WASF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687)	10	1893	-		all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)	352			Poly-Pro.		E1P5F2|Q5SZK7	Silent	SNP	ENST00000392589.1	37	c.1056A>C	CCDS5080.1																																																																																				0.572	WASF1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041784.3	NM_003931		8	33	0	0	0	0	8	33				
ETV1	2115	broad.mit.edu	37	7	13935510	13935510	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr7:13935510T>C	ENST00000430479.1	-	14	2082	c.1415A>G	c.(1414-1416)aAc>aGc	p.N472S	ETV1_ENST00000405358.4_Missense_Mutation_p.N486S|ETV1_ENST00000420159.2_Missense_Mutation_p.N414S|ETV1_ENST00000405218.2_Missense_Mutation_p.N472S|ETV1_ENST00000403527.1_Missense_Mutation_p.N432S|ETV1_ENST00000399357.3_Missense_Mutation_p.N369S|ETV1_ENST00000343495.5_Missense_Mutation_p.N454S|ETV1_ENST00000405192.2_Missense_Mutation_p.N449S|ETV1_ENST00000242066.5_Missense_Mutation_p.N454S|ETV1_ENST00000403685.1_Missense_Mutation_p.N454S	NM_004956.4	NP_004947.2	P50549	ETV1_HUMAN	ets variant 1	472					axon guidance (GO:0007411)|cell differentiation (GO:0030154)|mechanosensory behavior (GO:0007638)|muscle organ development (GO:0007517)|peripheral nervous system neuron development (GO:0048935)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						GTAGCCTTCGTTGTAGGGGTG	0.483			T	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""	"""Ewing sarcoma, prostate"""																																	uc011jxq.1		NA		Dom	yes		7	7p22	2115	T	ets variant gene 1			"""M, E"""	EWSR1|TMPRSS2|SLC45A3|C15orf21|HNRNPA2B1. ACSL3		Ewing sarcoma|prostate	TMPRSS2/ETV1(24)|EWSR1/ETV1(7)	0				prostate(24)|soft_tissue(4)|bone(3)|lung(2)|central_nervous_system(1)|ovary(1)	35						c.(1414-1416)AAC>AGC		ets variant gene 1 isoform a							52.0	50.0	50.0					7																	13935510		1956	4147	6103	SO:0001583	missense	2115				transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:13935510T>C		CCDS55083.1, CCDS55084.1, CCDS55085.1, CCDS55086.1, CCDS55087.1, CCDS55088.1	7p22	2008-09-12	2008-09-12		ENSG00000006468	ENSG00000006468			3490	protein-coding gene	gene with protein product		600541	"""ets variant gene 1"""			1340465	Standard	NM_004956		Approved	ER81	uc003ssw.4	P50549	OTTHUMG00000152403	ENST00000430479.1:c.1415A>G	7.37:g.13935510T>C	ENSP00000405327:p.Asn472Ser					ETV1_uc011jxn.1_Missense_Mutation_p.N432S|ETV1_uc011jxo.1_Missense_Mutation_p.N369S|ETV1_uc011jxp.1_Missense_Mutation_p.N414S|ETV1_uc003ssw.3_Missense_Mutation_p.N449S|ETV1_uc003ssx.2_RNA|ETV1_uc011jxr.1_Missense_Mutation_p.N454S|ETV1_uc011jxs.1_Missense_Mutation_p.N454S	p.N472S	NM_004956	NP_004947	P50549	ETV1_HUMAN			14	2154	-			472					A4D118|B2R768|B7Z2I4|B7Z618|B7Z9P2|C9JT37|E9PHB1|F5GXR2|O75849|Q4KMQ6|Q59GA7|Q6AI30|Q9UQ71|Q9Y636	Missense_Mutation	SNP	ENST00000430479.1	37	c.1415A>G	CCDS55088.1	.	.	.	.	.	.	.	.	.	.	T	3.101	-0.184745	0.06340	.	.	ENSG00000006468	ENST00000430479;ENST00000242066;ENST00000343495;ENST00000420159;ENST00000399357;ENST00000405192;ENST00000405358;ENST00000403527;ENST00000405218;ENST00000403685	T;T;T;T;T;T;T;T;T;T	0.08720	3.08;3.08;3.08;3.08;3.06;3.09;3.07;3.08;3.08;3.08	5.47	4.3	0.51218	.	0.190540	0.53938	D	0.000051	T	0.04998	0.0134	N	0.16478	0.41	0.58432	D	0.999996	B;B;B;B;B;B;B	0.10296	0.0;0.0;0.001;0.003;0.0;0.002;0.0	B;B;B;B;B;B;B	0.13407	0.001;0.001;0.002;0.009;0.004;0.004;0.0	T	0.30208	-0.9986	10	0.08837	T	0.75	.	11.4861	0.50354	0.0:0.0716:0.0:0.9284	.	460;454;486;414;369;432;472	Q59GA7;P50549-2;B5MCT2;F5GXR2;B7Z9P2;E9PHB1;P50549	.;.;.;.;.;.;ETV1_HUMAN	S	472;454;454;414;369;449;486;432;472;454	ENSP00000405327:N472S;ENSP00000242066:N454S;ENSP00000340853:N454S;ENSP00000411626:N414S;ENSP00000382293:N369S;ENSP00000385381:N449S;ENSP00000384085:N486S;ENSP00000384138:N432S;ENSP00000385551:N472S;ENSP00000385686:N454S	ENSP00000242066:N454S	N	-	2	0	ETV1	13902035	0.995000	0.38212	0.999000	0.59377	0.994000	0.84299	1.204000	0.32296	2.077000	0.62373	0.528000	0.53228	AAC		0.483	ETV1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326111.1	NM_004956		6	20	0	0	0	0	6	20				
AGMO	392636	broad.mit.edu	37	7	15599868	15599868	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr7:15599868A>T	ENST00000342526.3	-	2	324	c.155T>A	c.(154-156)cTg>cAg	p.L52Q		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	52					ether lipid metabolic process (GO:0046485)|fatty acid biosynthetic process (GO:0006633)|membrane lipid metabolic process (GO:0006643)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glyceryl-ether monooxygenase activity (GO:0050479)|iron ion binding (GO:0005506)			breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						AAGTTCAAGCAGCATCAAAGA	0.408																																						uc003stb.1		NA																	0					0						c.(154-156)CTG>CAG		transmembrane protein 195							84.0	81.0	82.0					7																	15599868		2203	4300	6503	SO:0001583	missense	392636				ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding	g.chr7:15599868A>T		CCDS34604.1	7p21.1	2013-03-04	2011-01-31	2011-01-31	ENSG00000187546	ENSG00000187546	1.14.16.5	"""Fatty acid hydroxylase domain containing"""	33784	protein-coding gene	gene with protein product		613738	"""transmembrane protein 195"""	TMEM195		20643956	Standard	NM_001004320		Approved	FLJ16237	uc003stb.1	Q6ZNB7	OTTHUMG00000152387	ENST00000342526.3:c.155T>A	7.37:g.15599868A>T	ENSP00000341662:p.Leu52Gln						p.L52Q	NM_001004320	NP_001004320	Q6ZNB7	ALKMO_HUMAN			2	325	-			52			Helical; (Potential).		A4D114|A6NCH5	Missense_Mutation	SNP	ENST00000342526.3	37	c.155T>A	CCDS34604.1	.	.	.	.	.	.	.	.	.	.	A	18.32	3.598708	0.66332	.	.	ENSG00000187546	ENST00000342526	T	0.37584	1.19	5.93	4.75	0.60458	.	0.403347	0.25948	N	0.027263	T	0.58864	0.2152	M	0.85373	2.75	0.35805	D	0.823464	D	0.76494	0.999	D	0.66847	0.947	T	0.68390	-0.5421	10	0.40728	T	0.16	-40.3041	9.3168	0.37939	0.7512:0.1273:0.0:0.1215	.	52	Q6ZNB7	ALKMO_HUMAN	Q	52	ENSP00000341662:L52Q	ENSP00000341662:L52Q	L	-	2	0	AGMO	15566393	0.490000	0.26012	0.985000	0.45067	0.919000	0.55068	2.737000	0.47393	1.025000	0.39708	0.533000	0.62120	CTG		0.408	AGMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326049.2	NM_001004320		18	47	0	0	0	0	18	47				
ELMO1	9844	broad.mit.edu	37	7	37264524	37264524	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr7:37264524G>A	ENST00000310758.4	-	9	1308	c.661C>T	c.(661-663)Cag>Tag	p.Q221*	ELMO1_ENST00000448602.1_Nonsense_Mutation_p.Q221*|ELMO1_ENST00000442504.1_Nonsense_Mutation_p.Q221*	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	221					actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phagocytosis, engulfment (GO:0006911)|Rac protein signal transduction (GO:0016601)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)	p.Q221*(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						GTGATCTCCTGCGCCACTTTC	0.532																																						uc003tfk.1		NA																	1	Substitution - Nonsense(1)	p.Q221*(1)	upper_aerodigestive_tract(1)	ovary(3)|skin(2)|upper_aerodigestive_tract(1)	6						c.(661-663)CAG>TAG		engulfment and cell motility 1 isoform 1							133.0	113.0	120.0					7																	37264524		2203	4300	6503	SO:0001587	stop_gained	9844				actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding	g.chr7:37264524G>A	AF398885	CCDS5449.1, CCDS5450.1	7p14.1	2012-07-10	2006-01-20		ENSG00000155849	ENSG00000155849		"""Engulfment and cell motility proteins"""	16286	protein-coding gene	gene with protein product		606420	"""engulfment and cell motility 1 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_001039459		Approved	KIAA0281, CED12, ELMO-1, CED-12	uc003tfk.2	Q92556	OTTHUMG00000023701	ENST00000310758.4:c.661C>T	7.37:g.37264524G>A	ENSP00000312185:p.Gln221*					ELMO1_uc011kbc.1_Nonsense_Mutation_p.Q125*|ELMO1_uc010kxg.1_Nonsense_Mutation_p.Q221*	p.Q221*	NM_014800	NP_055615	Q92556	ELMO1_HUMAN			9	968	-			221					A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Nonsense_Mutation	SNP	ENST00000310758.4	37	c.661C>T	CCDS5449.1	.	.	.	.	.	.	.	.	.	.	G	47	13.585012	0.99751	.	.	ENSG00000155849	ENST00000310758;ENST00000361912;ENST00000442504;ENST00000448602	.	.	.	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	.	19.5556	0.95345	0.0:0.0:1.0:0.0	.	.	.	.	X	221;125;221;221	.	ENSP00000312185:Q221X	Q	-	1	0	ELMO1	37231049	1.000000	0.71417	0.536000	0.28039	0.869000	0.49853	5.607000	0.67648	2.693000	0.91896	0.655000	0.94253	CAG		0.532	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219830.4	NM_130442		13	29	0	0	0	0	13	29				
EPDR1	54749	broad.mit.edu	37	7	37988572	37988572	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr7:37988572G>A	ENST00000199448.4	+	2	779	c.400G>A	c.(400-402)Gaa>Aaa	p.E134K	EPDR1_ENST00000559325.1_Missense_Mutation_p.E254K|EPDR1_ENST00000423717.1_Intron|EPDR1_ENST00000476620.1_Missense_Mutation_p.E32K|EPDR1_ENST00000425345.1_Missense_Mutation_p.E73K	NM_017549.4	NP_060019.2	Q9UM22	EPDR1_HUMAN	ependymin related 1	134					cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	calcium ion binding (GO:0005509)	p.E254K(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						CTCCACCTTTGAAGACCAGTA	0.512																																						uc003tfp.2		NA																	1	Substitution - Missense(1)	p.E254K(1)	upper_aerodigestive_tract(1)	upper_aerodigestive_tract(1)	1						c.(760-762)GAA>AAA		ependymin related protein 1 precursor							111.0	104.0	107.0					7																	37988572		2203	4300	6503	SO:0001583	missense	54749				cell-matrix adhesion	extracellular region	calcium ion binding	g.chr7:37988572G>A	BC018299	CCDS5454.1, CCDS5454.2, CCDS59051.1, CCDS59052.1	7p14.1	2013-07-31	2013-07-31		ENSG00000086289	ENSG00000086289			17572	protein-coding gene	gene with protein product			"""ependymin related protein 1 (zebrafish)"""			11749721, 11248421	Standard	NM_001242946		Approved	MERP-1, MERP1, UCC1, EPDR	uc003tfp.4	Q9UM22	OTTHUMG00000102187	ENST00000199448.4:c.400G>A	7.37:g.37988572G>A	ENSP00000199448:p.Glu134Lys					EPDR1_uc003tfq.2_Intron|EPDR1_uc010kxh.2_Missense_Mutation_p.E73K	p.E254K	NM_017549	NP_060019	Q9UM22	EPDR1_HUMAN			2	779	+			134					A8K4C0|C9JYS3|Q06BL0|Q99M77	Missense_Mutation	SNP	ENST00000199448.4	37	c.760G>A	CCDS5454.2	.	.	.	.	.	.	.	.	.	.	G	33	5.276815	0.95459	.	.	ENSG00000086289	ENST00000476620;ENST00000199448;ENST00000425345	.	.	.	5.24	5.24	0.73138	.	0.106569	0.64402	D	0.000007	T	0.77691	0.4168	M	0.69823	2.125	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.91635	0.962;0.999	T	0.73461	-0.3975	9	0.26408	T	0.33	-21.0005	17.7611	0.88465	0.0:0.0:1.0:0.0	.	73;254	C9JYS3;A4D1W8	.;.	K	32;254;73	.	ENSP00000199448:E254K	E	+	1	0	EPDR1	37955097	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.657000	0.98554	2.729000	0.93468	0.655000	0.94253	GAA		0.512	EPDR1-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220037.3	NM_017549		15	26	0	0	0	0	15	26				
PIK3CG	5294	broad.mit.edu	37	7	106508605	106508605	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr7:106508605C>T	ENST00000359195.3	+	2	909	c.599C>T	c.(598-600)cCg>cTg	p.P200L	PIK3CG_ENST00000440650.2_Missense_Mutation_p.P200L|PIK3CG_ENST00000496166.1_Missense_Mutation_p.P200L	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	200					adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						GCCATGCACCCGTGGGTGACG	0.622																																						uc003vdv.3		NA																	0				lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)	38						c.(598-600)CCG>CTG		phosphoinositide-3-kinase, catalytic, gamma							85.0	87.0	86.0					7																	106508605		2203	4300	6503	SO:0001583	missense	5294				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr7:106508605C>T		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"""phosphoinositide-3-kinase, catalytic, gamma polypeptide"""				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.599C>T	7.37:g.106508605C>T	ENSP00000352121:p.Pro200Leu					PIK3CG_uc003vdu.2_Missense_Mutation_p.P200L|PIK3CG_uc003vdw.2_Missense_Mutation_p.P200L	p.P200L	NM_002649	NP_002640	P48736	PK3CG_HUMAN			2	684	+			200					A4D0Q6|Q8IV23|Q9BZC8	Missense_Mutation	SNP	ENST00000359195.3	37	c.599C>T	CCDS5739.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.590854	0.86851	.	.	ENSG00000105851	ENST00000440650;ENST00000496166;ENST00000359195	T;T;T	0.73575	-0.76;-0.76;-0.76	5.5	5.5	0.81552	.	0.048374	0.85682	N	0.000000	T	0.76758	0.4032	M	0.70275	2.135	0.80722	D	1	D	0.54047	0.964	B	0.43225	0.412	T	0.78778	-0.2071	10	0.45353	T	0.12	-24.5088	19.7537	0.96281	0.0:1.0:0.0:0.0	.	200	P48736	PK3CG_HUMAN	L	200	ENSP00000392258:P200L;ENSP00000419260:P200L;ENSP00000352121:P200L	ENSP00000352121:P200L	P	+	2	0	PIK3CG	106295841	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.729000	0.84864	2.736000	0.93811	0.591000	0.81541	CCG		0.622	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1			15	50	0	0	0	0	15	50				
GCC1	79571	broad.mit.edu	37	7	127223255	127223255	+	Missense_Mutation	SNP	C	C	T	rs200076690		TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr7:127223255C>T	ENST00000321407.2	-	2	1565	c.1141G>A	c.(1141-1143)Gag>Aag	p.E381K	GCC1_ENST00000497650.1_5'UTR	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	381					protein targeting to Golgi (GO:0000042)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)				breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						TTGGCTTTCTCGTAGGTGCCT	0.547																																						uc003vma.2		NA																	0				ovary(2)	2						c.(1141-1143)GAG>AAG		Golgi coiled-coil protein 1							100.0	100.0	100.0					7																	127223255		2203	4300	6503	SO:0001583	missense	79571					Golgi membrane|plasma membrane	protein binding	g.chr7:127223255C>T	AF525417	CCDS5796.1	7q22.3	2004-03-05	2003-10-17		ENSG00000179562	ENSG00000179562			19095	protein-coding gene	gene with protein product		607418	"""golgi coiled-coil 1"""			10209125	Standard	NM_024523		Approved	FLJ22035, GCC88, GCC1P, MGC20706	uc003vma.3	Q96CN9	OTTHUMG00000023590	ENST00000321407.2:c.1141G>A	7.37:g.127223255C>T	ENSP00000318821:p.Glu381Lys						p.E381K	NM_024523	NP_078799	Q96CN9	GCC1_HUMAN			2	1559	-			381			Potential.		Q9H6N7	Missense_Mutation	SNP	ENST00000321407.2	37	c.1141G>A	CCDS5796.1	.	.	.	.	.	.	.	.	.	.	C	17.80	3.477589	0.63849	.	.	ENSG00000179562	ENST00000321407	T	0.17528	2.27	5.18	4.3	0.51218	.	0.050029	0.85682	N	0.000000	T	0.35682	0.0940	M	0.70275	2.135	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.18777	-1.0326	10	0.14252	T	0.57	-23.164	11.8705	0.52517	0.0:0.9147:0.0:0.0853	.	381	Q96CN9	GCC1_HUMAN	K	381	ENSP00000318821:E381K	ENSP00000318821:E381K	E	-	1	0	GCC1	127010491	1.000000	0.71417	0.954000	0.39281	0.560000	0.35617	5.440000	0.66563	1.318000	0.45170	-0.140000	0.14226	GAG		0.547	GCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059911.3	NM_024523		32	92	0	0	0	0	32	92				
RB1CC1	9821	broad.mit.edu	37	8	53573780	53573780	+	Missense_Mutation	SNP	G	G	A	rs151174558		TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr8:53573780G>A	ENST00000025008.5	-	10	1943	c.1420C>T	c.(1420-1422)Cgc>Tgc	p.R474C	RB1CC1_ENST00000539297.1_Missense_Mutation_p.R474C|RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000435644.2_Missense_Mutation_p.R474C	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	474					autophagic vacuole assembly (GO:0000045)|cell cycle (GO:0007049)|heart development (GO:0007507)|JNK cascade (GO:0007254)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell size (GO:0045793)|positive regulation of protein phosphorylation (GO:0001934)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)		p.R474C(1)		NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				ATTACGAGGCGGAGCAAAGCT	0.378																																					GBM(180;1701 2102 13475 42023 52570)	uc003xre.3		NA																	1	Substitution - Missense(1)	p.R474C(1)	upper_aerodigestive_tract(1)	ovary(8)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)	11						c.(1420-1422)CGC>TGC		Rb1-inducible coiled coil protein 1 isoform 1		G	CYS/ARG,CYS/ARG	0,4406		0,0,2203	92.0	86.0	88.0		1420,1420	5.4	1.0	8	dbSNP_134	88	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	RB1CC1	NM_001083617.1,NM_014781.4	180,180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	474/1592,474/1595	53573780	1,13005	2203	4300	6503	SO:0001583	missense	9821				autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding	g.chr8:53573780G>A	AB059622	CCDS34892.1, CCDS47856.1	8q11	2014-06-13				ENSG00000023287			15574	protein-coding gene	gene with protein product	"""200 kDa FAK family kinase-interacting protein"", ""phosphatase 1, regulatory subunit 131"""	606837				11850849, 7724523, 18443221	Standard	NM_014781		Approved	KIAA0203, Cc1, DRAGOU14, FIP200, ATG17, PPP1R131	uc003xre.4	Q8TDY2		ENST00000025008.5:c.1420C>T	8.37:g.53573780G>A	ENSP00000025008:p.Arg474Cys					RB1CC1_uc003xrf.3_Missense_Mutation_p.R474C	p.R474C	NM_014781	NP_055596	Q8TDY2	RBCC1_HUMAN			10	1978	-		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)	474					Q86YR4|Q8WVU9|Q92601	Missense_Mutation	SNP	ENST00000025008.5	37	c.1420C>T	CCDS34892.1	.	.	.	.	.	.	.	.	.	.	G	15.79	2.937403	0.52972	0.0	1.16E-4	ENSG00000023287	ENST00000025008;ENST00000435644;ENST00000539297	T;T;T	0.16897	2.31;2.31;2.31	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.45617	0.1351	M	0.75264	2.295	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.40924	-0.9537	10	0.72032	D	0.01	-3.6382	19.4663	0.94943	0.0:0.0:1.0:0.0	.	474;474	Q8TDY2-2;Q8TDY2	.;RBCC1_HUMAN	C	474	ENSP00000025008:R474C;ENSP00000396067:R474C;ENSP00000445960:R474C	ENSP00000025008:R474C	R	-	1	0	RB1CC1	53736333	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.435000	0.66532	2.675000	0.91044	0.650000	0.86243	CGC		0.378	RB1CC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378011.1	NM_014781		16	66	0	0	0	0	16	66				
EPPK1	83481	broad.mit.edu	37	8	144944533	144944533	+	Silent	SNP	C	C	T			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr8:144944533C>T	ENST00000525985.1	-	2	2960	c.2889G>A	c.(2887-2889)ctG>ctA	p.L963L				P58107	EPIPL_HUMAN	epiplakin 1	963						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGGCCTCCAGCAGGGCCAGGG	0.716																																						uc003zaa.1		NA																	0				pancreas(1)|skin(1)	2						c.(2887-2889)CTG>CTA		epiplakin 1							6.0	8.0	7.0					8																	144944533		1885	4055	5940	SO:0001819	synonymous_variant	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144944533C>T	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.2889G>A	8.37:g.144944533C>T							p.L963L	NM_031308	NP_112598	P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		1	2902	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		963			Plectin 18.		Q76E58|Q9NSU9	Silent	SNP	ENST00000525985.1	37	c.2889G>A																																																																																					0.716	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		3	12	0	0	0	0	3	12				
PLEC	5339	broad.mit.edu	37	8	144993862	144993862	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr8:144993862C>T	ENST00000322810.4	-	32	10707	c.10538G>A	c.(10537-10539)cGc>cAc	p.R3513H	PLEC_ENST00000356346.3_Missense_Mutation_p.R3362H|PLEC_ENST00000354589.3_Missense_Mutation_p.R3376H|PLEC_ENST00000436759.2_Missense_Mutation_p.R3403H|PLEC_ENST00000398774.2_Missense_Mutation_p.R3344H|PLEC_ENST00000354958.2_Missense_Mutation_p.R3354H|PLEC_ENST00000357649.2_Missense_Mutation_p.R3380H|PLEC_ENST00000345136.3_Missense_Mutation_p.R3376H|PLEC_ENST00000527096.1_Missense_Mutation_p.R3399H	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3513	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CAGGCCCCGGCGCATGGCCTC	0.687																																						uc003zaf.1		NA																	0				large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						c.(10537-10539)CGC>CAC		plectin isoform 1							16.0	19.0	18.0					8																	144993862		2041	4156	6197	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle	g.chr8:144993862C>T	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.10538G>A	8.37:g.144993862C>T	ENSP00000323856:p.Arg3513His					PLEC_uc003zab.1_Missense_Mutation_p.R3376H|PLEC_uc003zac.1_Missense_Mutation_p.R3380H|PLEC_uc003zad.2_Missense_Mutation_p.R3376H|PLEC_uc003zae.1_Missense_Mutation_p.R3344H|PLEC_uc003zag.1_Missense_Mutation_p.R3354H|PLEC_uc003zah.2_Missense_Mutation_p.R3362H|PLEC_uc003zaj.2_Missense_Mutation_p.R3403H	p.R3513H	NM_201380	NP_958782	Q15149	PLEC_HUMAN			32	10708	-			3513			Plectin 12.|Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.10538G>A	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	C	11.21	1.570277	0.28003	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.75589	-0.95;-0.95;-0.95;-0.95;-0.95;-0.95;-0.95;-0.95;-0.95	4.73	2.77	0.32553	.	0.199850	0.31427	U	0.007671	T	0.70316	0.3210	L	0.43923	1.385	0.34269	D	0.680817	D;P;P;D;P;P;D;D	0.56287	0.969;0.945;0.945;0.975;0.945;0.945;0.969;0.969	P;P;P;P;P;P;P;P	0.49597	0.481;0.481;0.481;0.616;0.481;0.481;0.481;0.481	T	0.78532	-0.2168	10	0.72032	D	0.01	.	8.7918	0.34854	0.0:0.7354:0.0:0.2645	.	3403;3362;3354;3513;3344;3376;3380;3376	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	H	3376;3380;3376;3344;3513;3354;3362;3403;3399	ENSP00000344848:R3376H;ENSP00000350277:R3380H;ENSP00000346602:R3376H;ENSP00000381756:R3344H;ENSP00000323856:R3513H;ENSP00000347044:R3354H;ENSP00000348702:R3362H;ENSP00000388180:R3403H;ENSP00000434583:R3399H	ENSP00000323856:R3513H	R	-	2	0	PLEC	145065850	0.992000	0.36948	0.997000	0.53966	0.904000	0.53231	0.702000	0.25631	1.220000	0.43490	0.448000	0.29417	CGC		0.687	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		12	27	0	0	0	0	12	27				
CDKN2A	1029	broad.mit.edu	37	9	21971108	21971108	+	Missense_Mutation	SNP	C	C	T	rs11552822		TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr9:21971108C>T	ENST00000304494.5	-	2	520	c.250G>A	c.(250-252)Gac>Aac	p.D84N	CDKN2A_ENST00000530628.2_Missense_Mutation_p.R98Q|CDKN2A_ENST00000579122.1_Missense_Mutation_p.D84N|CDKN2A_ENST00000479692.2_Missense_Mutation_p.D33N|CDKN2A_ENST00000446177.1_Missense_Mutation_p.D84N|CDKN2A_ENST00000579755.1_Missense_Mutation_p.R98Q|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000361570.3_Missense_Mutation_p.R139Q|CDKN2A_ENST00000578845.2_Missense_Mutation_p.D33N|CDKN2A_ENST00000494262.1_Missense_Mutation_p.D33N|CDKN2A_ENST00000497750.1_Missense_Mutation_p.D33N|CDKN2A_ENST00000498124.1_Missense_Mutation_p.D84N|CDKN2A_ENST00000498628.2_Missense_Mutation_p.D33N	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	84			D -> E (in a bladder tumor).|D -> H (in non-small cell lung carcinoma). {ECO:0000269|PubMed:8060323}.|D -> N (in an esophagus, a head and neck and a lung tumor).|D -> Y (in CMM2; also found in a lung and a prostate tumor; dbSNP:rs11552822). {ECO:0000269|PubMed:10874641}.		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(44)|p.D84Y(11)|p.D84N(7)|p.D84fs*63(2)|p.D84H(2)|p.H83fs*2(2)|p.R139Q(2)|p.D84fs*1(1)|p.D84_F90del(1)|p.R139L(1)|p.0(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.P81_A85del(1)|p.R80fs*34(1)|p.V82_E88del(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CGGGCAGCGTCGTGCACGGGT	0.741	D84Y(DU145_PROSTATE)|D84Y(LK2_LUNG)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												uc003zpk.2	D84Y(LK2_LUNG)|D84Y(DU145_PROSTATE)	17																	1396	Whole gene deletion(1316)|Unknown(44)|Substitution - Missense(23)|Deletion - Frameshift(5)|Deletion - In frame(4)|Insertion - Frameshift(3)|Complex - deletion inframe(1)	p.0?(1112)|p.?(13)|p.D84Y(9)|p.D84V(4)|p.D84N(3)|p.D84G(2)|p.D84fs*63(2)|p.D84H(2)|p.H83fs*2(2)|p.D84_F90del(1)|p.D84D(1)|p.V82_E88del(1)|p.V82_G89>G(1)|p.D84fs*0(1)|p.E61_L94del(1)|p.D84fs*36(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.P81_A85del(1)|p.R80fs*34(1)	haematopoietic_and_lymphoid_tissue(283)|skin(175)|central_nervous_system(170)|lung(154)|urinary_tract(91)|bone(74)|soft_tissue(57)|oesophagus(54)|upper_aerodigestive_tract(52)|pleura(51)|ovary(36)|kidney(32)|breast(32)|pancreas(30)|biliary_tract(15)|thyroid(13)|NS(12)|stomach(12)|prostate(11)|autonomic_ganglia(9)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(5)|thymus(4)|vulva(2)|endometrium(2)|genital_tract(1)	haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678	GRCh37	CM085316|CM990358	CDKN2A	M	rs11552822	c.(250-252)GAC>AAC		cyclin-dependent kinase inhibitor 2A isoform 1							13.0	16.0	15.0					9																	21971108		2178	4258	6436	SO:0001583	missense	1029	Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma			cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	g.chr9:21971108C>T	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.250G>A	9.37:g.21971108C>T	ENSP00000307101:p.Asp84Asn	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Missense_Mutation_p.R139Q	p.D84N	NM_000077	NP_000068	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	462	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	84		D -> E (in a bladder tumor).|D -> N (in an esophagus, a head and neck and a lung tumor).|D -> H (in non-small cell lung carcinoma).	ANK 3.		A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Missense_Mutation	SNP	ENST00000304494.5	37	c.250G>A	CCDS6510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.337227|5.337227	0.95758|0.95758	.|.	.|.	ENSG00000147889|ENSG00000147889	ENST00000304494;ENST00000446177|ENST00000361570;ENST00000530628	D;D|D;D	0.93906|0.83992	-3.31;-3.31|-1.79;-1.71	5.93|5.93	5.93|5.93	0.95920|0.95920	Ankyrin repeat-containing domain (4);|.	.|0.000000	.|0.30428	.|N	.|0.009646	D|D	0.87744|0.87744	0.6254|0.6254	L|L	0.32530|0.32530	0.975|0.975	0.45261|0.45261	D|D	0.998263|0.998263	D|D	0.89917|0.89917	1.0|1.0	D|D	0.83275|0.87578	0.996|0.998	D|D	0.88398|0.88398	0.3013|0.3013	9|10	0.27785|0.87932	T|D	0.31|0	-18.6892|-18.6892	19.1221|19.1221	0.93367|0.93367	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	84|139	P42771|Q8N726	CD2A1_HUMAN|CD2A2_HUMAN	N|Q	84|139;98	ENSP00000307101:D84N;ENSP00000394932:D84N|ENSP00000355153:R139Q;ENSP00000432664:R98Q	ENSP00000307101:D84N|ENSP00000355153:R139Q	D|R	-|-	1|2	0|0	CDKN2A|CDKN2A	21961108|21961108	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.954000|0.954000	0.61252|0.61252	6.879000|6.879000	0.75572|0.75572	2.808000|2.808000	0.96608|0.96608	0.655000|0.655000	0.94253|0.94253	GAC|CGA		0.741	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		4	5	0	0	0	0	4	5				
ZNF510	22869	broad.mit.edu	37	9	99522150	99522150	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr9:99522150G>C	ENST00000375231.1	-	6	1612	c.962C>G	c.(961-963)tCa>tGa	p.S321*	ZNF510_ENST00000223428.4_Nonsense_Mutation_p.S321*			Q9Y2H8	ZN510_HUMAN	zinc finger protein 510	321					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	21		Acute lymphoblastic leukemia(62;0.0527)				CTCCACAGTTGACTTCTCAAA	0.358																																						uc004awn.1		NA																	0					0						c.(961-963)TCA>TGA		zinc finger protein 510							91.0	95.0	93.0					9																	99522150		2203	4300	6503	SO:0001587	stop_gained	22869				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:99522150G>C	AB023189	CCDS35074.1	9q22.33	2013-01-08			ENSG00000081386	ENSG00000081386		"""Zinc fingers, C2H2-type"", ""-"""	29161	protein-coding gene	gene with protein product						10231032	Standard	XM_005251807		Approved	KIAA0972	uc004awn.1	Q9Y2H8	OTTHUMG00000020303	ENST00000375231.1:c.962C>G	9.37:g.99522150G>C	ENSP00000364379:p.Ser321*					ZNF510_uc004awo.1_Nonsense_Mutation_p.S321*	p.S321*	NM_014930	NP_055745	Q9Y2H8	ZN510_HUMAN			6	1151	-		Acute lymphoblastic leukemia(62;0.0527)	321					Q5SZP5	Nonsense_Mutation	SNP	ENST00000375231.1	37	c.962C>G	CCDS35074.1	.	.	.	.	.	.	.	.	.	.	g	38	7.152863	0.98099	.	.	ENSG00000081386	ENST00000375231;ENST00000223428	.	.	.	3.33	1.79	0.24919	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	7.3067	0.26451	0.2011:0.0:0.7989:0.0	.	.	.	.	X	321	.	ENSP00000223428:S321X	S	-	2	0	ZNF510	98561971	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-2.145000	0.01295	0.552000	0.29026	0.655000	0.94253	TCA		0.358	ZNF510-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053287.1	NM_014930		29	67	0	0	0	0	29	67				
CXorf22	170063	broad.mit.edu	37	X	35993984	35993984	+	Silent	SNP	C	C	A	rs138251686		TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chrX:35993984C>A	ENST00000297866.5	+	15	2733	c.2667C>A	c.(2665-2667)ccC>ccA	p.P889P		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	889										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						AATGGCAACCCGTAAACACAG	0.358																																						uc004ddj.2		NA																	0				large_intestine(1)|lung(1)|ovary(1)	3						c.(2665-2667)CCC>CCA		hypothetical protein LOC170063							154.0	140.0	145.0					X																	35993984		2202	4300	6502	SO:0001819	synonymous_variant	170063							g.chrX:35993984C>A	BC027936	CCDS14237.2	Xp21.1	2014-08-07			ENSG00000165164	ENSG00000165164			28546	protein-coding gene	gene with protein product						12477932	Standard	NM_152632		Approved	MGC34831	uc004ddj.3	Q6ZTR5	OTTHUMG00000021350	ENST00000297866.5:c.2667C>A	X.37:g.35993984C>A						CXorf22_uc010ngv.2_RNA	p.P889P	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN			15	2726	+			889					Q5JRM8|Q8N6X8	Silent	SNP	ENST00000297866.5	37	c.2667C>A	CCDS14237.2																																																																																				0.358	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056216.2	NM_152632		22	38	1	0	7.88e-14	9.05e-14	22	38				
MED14	9282	broad.mit.edu	37	X	40511065	40511065	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chrX:40511065C>T	ENST00000324817.1	-	31	4476	c.4358G>A	c.(4357-4359)cGt>cAt	p.R1453H		NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	1453					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGTCTATGGACGCCCACCAGG	0.388													C|||	1	0.000264901	0.0	0.0	3775	,	,		12320	0.001		0.0	False		,,,				2504	0.0					uc004dex.3		NA																	0				breast(2)|kidney(1)|skin(1)	4						c.(4357-4359)CGT>CAT		mediator complex subunit 14							44.0	38.0	40.0					X																	40511065		2203	4299	6502	SO:0001583	missense	9282				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:40511065C>T	AB006651	CCDS14254.1	Xp11.4	2008-05-14	2007-07-30	2007-07-30	ENSG00000180182	ENSG00000180182			2370	protein-coding gene	gene with protein product		300182	"""cofactor required for Sp1 transcriptional activation, subunit 2, 150kDa"""	CXorf4, CRSP2		9989412, 9598311	Standard	NM_004229		Approved	EXLM1, CRSP150, TRAP170, RGR1, CSRP	uc004dex.4	O60244	OTTHUMG00000024107	ENST00000324817.1:c.4358G>A	X.37:g.40511065C>T	ENSP00000323720:p.Arg1453His						p.R1453H	NM_004229	NP_004220	O60244	MED14_HUMAN			31	4498	-			1453					Q4KMR7|Q9UNB3	Missense_Mutation	SNP	ENST00000324817.1	37	c.4358G>A	CCDS14254.1	.	.	.	.	.	.	.	.	.	.	C	16.05	3.012876	0.54468	.	.	ENSG00000180182	ENST00000324817	.	.	.	5.88	4.12	0.48240	.	0.092295	0.85682	N	0.000000	T	0.43411	0.1246	N	0.22421	0.69	0.58432	D	0.999996	B	0.09022	0.002	B	0.04013	0.001	T	0.23404	-1.0189	9	0.54805	T	0.06	.	12.0182	0.53326	0.0:0.8567:0.0:0.1433	.	1453	O60244	MED14_HUMAN	H	1453	.	ENSP00000323720:R1453H	R	-	2	0	MED14	40396009	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.681000	0.54648	0.627000	0.30340	-0.192000	0.12808	CGT		0.388	MED14-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060692.1	NM_004229		3	3	0	0	0	0	3	3				
POLR3C	10623	broad.mit.edu	37	1	145608112	145608113	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr1:145608112_145608113insA	ENST00000334163.3	-	4	744_745	c.584_585insT	c.(583-585)ttgfs	p.L195fs	POLR3C_ENST00000471254.1_5'UTR|POLR3C_ENST00000369294.1_Frame_Shift_Ins_p.L195fs|RNF115_ENST00000369291.5_5'Flank	NM_006468.6	NP_006459.3	Q9BUI4	RPC3_HUMAN	polymerase (RNA) III (DNA directed) polypeptide C (62kD)	195					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		Epithelial(2;7.55e-13)			CCTTACCTATCAAGCTGAGTTT	0.426																																						uc001eoh.2		NA																	0				ovary(1)	1						c.(583-585)TTGfs		polymerase (RNA) III (DNA directed) polypeptide																																				SO:0001589	frameshift_variant	10623				innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity	g.chr1:145608112_145608113insA	AJ238234	CCDS72864.1	1q21	2013-01-21			ENSG00000186141	ENSG00000186141		"""RNA polymerase subunits"""	30076	protein-coding gene	gene with protein product						9171375, 12391170	Standard	NM_006468		Approved	RPC62, RPC3	uc001eoh.3	Q9BUI4	OTTHUMG00000013753	ENST00000334163.3:c.585dupT	1.37:g.145608114_145608114dupA	ENSP00000334564:p.Leu195fs					NBPF10_uc001emp.3_Intron|RNF115_uc001eoj.2_5'Flank|RNF115_uc001eok.2_5'Flank|RNF115_uc009wiy.2_5'Flank|POLR3C_uc001eog.2_Frame_Shift_Ins_p.L208fs|POLR3C_uc001eoi.2_RNA|POLR3C_uc009wix.2_Frame_Shift_Ins_p.L195fs	p.L195fs	NM_006468	NP_006459	Q9BUI4	RPC3_HUMAN	Epithelial(2;7.55e-13)		4	745_746	-	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		195					O15317|Q9Y3R6	Frame_Shift_Ins	INS	ENST00000334163.3	37	c.584_585insT	CCDS921.1																																																																																				0.426	POLR3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038542.1	NM_006468		23	65	NA	NA	NA	NA	23	65	---	---	---	---
CR1	1378	broad.mit.edu	37	1	207741172	207741172	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr1:207741172delT	ENST00000367049.4	+	25	3956	c.3956delT	c.(3955-3957)atcfs	p.I1319fs	CR1_ENST00000367051.1_Frame_Shift_Del_p.I869fs|CR1_ENST00000367053.1_Frame_Shift_Del_p.I869fs|RP11-78B10.2_ENST00000596003.1_RNA|CR1_ENST00000400960.2_Frame_Shift_Del_p.I869fs|RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000367052.1_Intron	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	869	Sushi 21. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TTTCTAGAAATCTTTTGTCCA	0.408																																						uc001hfy.2		NA																	0				ovary(3)	3						c.(2605-2607)ATCfs		complement receptor 1 isoform F precursor							103.0	112.0	109.0					1																	207741172		1785	4088	5873	SO:0001589	frameshift_variant	1378				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	g.chr1:207741172delT	Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"""CD molecules"", ""Blood group antigens"", ""Complement system"""	2334	protein-coding gene	gene with protein product		120620	"""complement component (3b/4b) receptor 1, including Knops blood group system"""			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.3956delT	1.37:g.207741172delT	ENSP00000356016:p.Ile1319fs					CR1_uc009xcl.1_Frame_Shift_Del_p.I419fs|CR1_uc001hfx.2_Frame_Shift_Del_p.I1319fs|CR1_uc009xck.1_Frame_Shift_Del_p.I419fs	p.I869fs	NM_000573	NP_000564	P17927	CR1_HUMAN			17	2746	+			869			Extracellular (Potential).|Sushi 14.		Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Frame_Shift_Del	DEL	ENST00000367049.4	37	c.2606delT	CCDS44308.1																																																																																				0.408	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1	NM_000573		18	47	NA	NA	NA	NA	18	47	---	---	---	---
TPCN1	53373	broad.mit.edu	37	12	113704096	113704098	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr12:113704096_113704098delCTG	ENST00000335509.6	+	4	663_665	c.349_351delCTG	c.(349-351)ctgdel	p.L122del	TPCN1_ENST00000550785.1_In_Frame_Del_p.L194del|TPCN1_ENST00000541517.1_In_Frame_Del_p.L194del|TPCN1_ENST00000392569.4_In_Frame_Del_p.L54del	NM_017901.4	NP_060371.2	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	122					calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|voltage-gated calcium channel activity (GO:0005245)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						GGCCACGGCCCTGCTGCTGCTGC	0.64																																						uc001tuw.2		NA																	0				skin(2)|ovary(1)	3						c.(349-351)CTGdel		two pore segment channel 1 isoform 2																																				SO:0001651	inframe_deletion	53373					endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity	g.chr12:113704096_113704098delCTG	AB032995	CCDS31908.1, CCDS44985.1	12q24.21	2011-07-05			ENSG00000186815	ENSG00000186815		"""Voltage-gated ion channels / Two-pore channels"""	18182	protein-coding gene	gene with protein product		609666				10574461, 10753632, 16382101	Standard	XM_005253905		Approved	KIAA1169, FLJ20612, TPC1	uc001tux.3	Q9ULQ1	OTTHUMG00000169625	ENST00000335509.6:c.349_351delCTG	12.37:g.113704105_113704107delCTG	ENSP00000335300:p.Leu122del					TPCN1_uc001tux.2_In_Frame_Del_p.L194del|TPCN1_uc010syt.1_In_Frame_Del_p.L54del	p.L122del	NM_017901	NP_060371	Q9ULQ1	TPC1_HUMAN			4	646_648	+			122			Helical; Name=S1 of repeat I; (Potential).		A7E258|Q86XS9|Q8NC20	In_Frame_Del	DEL	ENST00000335509.6	37	c.349_351delCTG	CCDS31908.1																																																																																				0.640	TPCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405156.3	NM_017901		8	413	NA	NA	NA	NA	8	413	---	---	---	---
MGA	23269	broad.mit.edu	37	15	42003295	42003297	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr15:42003295_42003297delCAT	ENST00000570161.1	+	7	2832_2834	c.2832_2834delCAT	c.(2830-2835)ggcatc>ggc	p.I946del	MGA_ENST00000219905.7_In_Frame_Del_p.I946del|MGA_ENST00000389936.4_In_Frame_Del_p.I946del|MGA_ENST00000545763.1_In_Frame_Del_p.I946del|MGA_ENST00000566586.1_In_Frame_Del_p.I946del			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ATTCTTCAGGCATCATCTCAGAA	0.384																																						uc001zog.1		NA																	0				ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	12						c.(2830-2835)GGCATC>GGC		MAX-interacting protein isoform 2																																				SO:0001651	inframe_deletion	23269					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr15:42003295_42003297delCAT	AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.2832_2834delCAT	15.37:g.42003298_42003300delCAT	ENSP00000457035:p.Ile946del					MGA_uc010ucy.1_In_Frame_Del_p.I946del|MGA_uc010ucz.1_In_Frame_Del_p.I946del	p.I946del	NM_001080541	NP_001074010	Q8IWI9	MGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	8	2923_2925	+		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)	946					Q0VAX6|Q75ME7|Q86UM5	In_Frame_Del	DEL	ENST00000570161.1	37	c.2832_2834delCAT	CCDS55959.1																																																																																				0.384	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1		48	93	NA	NA	NA	NA	48	93	---	---	---	---
COL21A1	81578	broad.mit.edu	37	6	56047356	56047357	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr6:56047356_56047357delAC	ENST00000244728.5	-	2	457_458	c.60_61delGT	c.(58-63)gtgttafs	p.L21fs	COL21A1_ENST00000535941.1_Frame_Shift_Del_p.L21fs|COL21A1_ENST00000370819.1_Frame_Shift_Del_p.L21fs	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	21					extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			TCTTCAGCTAACACAGAATTCT	0.347																																						uc003pcs.2		NA																	0				ovary(2)	2						c.(58-63)GTGTTAfs		collagen, type XXI, alpha 1 precursor																																				SO:0001589	frameshift_variant	81578				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr6:56047356_56047357delAC	AF330693	CCDS55025.1	6p12.3-p11.2	2013-01-16			ENSG00000124749	ENSG00000124749		"""Collagens"""	17025	protein-coding gene	gene with protein product		610002				11566190	Standard	XR_241922		Approved		uc003pcs.3	Q96P44	OTTHUMG00000014907	ENST00000244728.5:c.60_61delGT	6.37:g.56047358_56047359delAC	ENSP00000244728:p.Leu21fs					COL21A1_uc003pct.1_RNA|COL21A1_uc011dxi.1_Frame_Shift_Del_p.V20fs|COL21A1_uc003pcu.1_Frame_Shift_Del_p.V20fs	p.V20fs	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.181)		2	292_293	-	Lung NSC(77;0.0483)		20_21					A6NIX5|B2R8J9|Q49A51|Q71RF4|Q8WXV8|Q9H0V3	Frame_Shift_Del	DEL	ENST00000244728.5	37	c.60_61delGT	CCDS55025.1																																																																																				0.347	COL21A1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041004.2			6	9	NA	NA	NA	NA	6	9	---	---	---	---
