#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
AHDC1	27245	broad.mit.edu	37	1	27874105	27874105	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6433-01A-11D-1683-08	TCGA-CV-6433-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b220fa-a554-43c9-85b0-315331e5ba6e	90358019-128e-4a51-95de-13920ef19ab2	g.chr1:27874105G>C	ENST00000247087.5	-	5	5118	c.4522C>G	c.(4522-4524)Cca>Gca	p.P1508A	AHDC1_ENST00000374011.2_Missense_Mutation_p.P1508A			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	1508							DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		GTGGCTGGTGGGCTAGCCAGG	0.711																																						uc009vsy.2		NA																	0				central_nervous_system(1)	1						c.(4522-4524)CCA>GCA		AT hook, DNA binding motif, containing 1							12.0	12.0	12.0					1																	27874105		2184	4285	6469	SO:0001583	missense	27245						DNA binding	g.chr1:27874105G>C	AK125431	CCDS30652.1	1p36.13	2008-02-05			ENSG00000126705	ENSG00000126705			25230	protein-coding gene	gene with protein product		615790				8619474, 9110174	Standard	XM_005245848		Approved	DJ159A19.3, RP1-159A19.1	uc009vsy.3	Q5TGY3	OTTHUMG00000003398	ENST00000247087.5:c.4522C>G	1.37:g.27874105G>C	ENSP00000247087:p.Pro1508Ala					AHDC1_uc009vsz.1_Missense_Mutation_p.P1508A	p.P1508A	NM_001029882	NP_001025053	Q5TGY3	AHDC1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)	6	5491	-		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	1508					Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5	Missense_Mutation	SNP	ENST00000247087.5	37	c.4522C>G	CCDS30652.1	.	.	.	.	.	.	.	.	.	.	G	17.19	3.327207	0.60743	.	.	ENSG00000126705	ENST00000247087;ENST00000374011	T;T	0.62941	-0.01;-0.01	5.67	5.67	0.87782	.	0.092119	0.43579	D	0.000541	T	0.68833	0.3044	N	0.24115	0.695	0.41815	D	0.989992	D	0.76494	0.999	D	0.80764	0.994	T	0.72836	-0.4172	10	0.87932	D	0	-7.5166	16.6874	0.85312	0.0:0.0:1.0:0.0	.	1508	Q5TGY3	AHDC1_HUMAN	A	1508	ENSP00000247087:P1508A;ENSP00000363123:P1508A	ENSP00000247087:P1508A	P	-	1	0	AHDC1	27746692	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.986000	0.63851	2.697000	0.92050	0.655000	0.94253	CCA		0.711	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009523.3			3	8	0	0	0	0	3	8				
LRIF1	55791	broad.mit.edu	37	1	111490996	111490996	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6433-01A-11D-1683-08	TCGA-CV-6433-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b220fa-a554-43c9-85b0-315331e5ba6e	90358019-128e-4a51-95de-13920ef19ab2	g.chr1:111490996G>A	ENST00000369763.4	-	4	2285	c.1895C>T	c.(1894-1896)gCa>gTa	p.A632V	LRIF1_ENST00000494675.1_Missense_Mutation_p.A96V|LRIF1_ENST00000485275.2_Missense_Mutation_p.A96V|RP11-96K19.2_ENST00000440689.1_RNA	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN	ligand dependent nuclear receptor interacting factor 1	632					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						ATTAGTTTTTGCTTTTCTTTT	0.343																																						uc001eaa.2		NA																	0					0						c.(1894-1896)GCA>GTA		receptor-interacting factor 1 isoform 1							147.0	128.0	135.0					1																	111490996		2203	4300	6503	SO:0001583	missense	55791				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding	g.chr1:111490996G>A	AY190122	CCDS30800.1, CCDS41366.1	1p13.3	2011-04-15	2011-04-15	2011-04-15	ENSG00000121931	ENSG00000121931			30299	protein-coding gene	gene with protein product	"""receptor interacting factor 1"""	615354	"""chromosome 1 open reading frame 103"""	C1orf103		17455211	Standard	NM_018372		Approved	RIF1, FLJ11269	uc001eaa.3	Q5T3J3	OTTHUMG00000011913	ENST00000369763.4:c.1895C>T	1.37:g.111490996G>A	ENSP00000358778:p.Ala632Val					C1orf103_uc001dzz.2_Missense_Mutation_p.A96V|C1orf103_uc001eab.2_Missense_Mutation_p.A96V|C1orf103_uc001eac.1_Missense_Mutation_p.A95V	p.A632V	NM_018372	NP_060842	Q5T3J3	LRIF1_HUMAN		Lung(183;0.0155)|Colorectal(144;0.0314)|all cancers(265;0.082)|LUSC - Lung squamous cell carcinoma(189;0.0826)|Epithelial(280;0.0891)|COAD - Colon adenocarcinoma(174;0.134)	4	2151	-		all_cancers(81;1.02e-05)|all_epithelial(167;1.87e-05)|all_lung(203;0.000234)|Lung NSC(277;0.000451)	632					Q86XS4|Q8N3B6|Q96HT4|Q9NUM5|Q9NV32	Missense_Mutation	SNP	ENST00000369763.4	37	c.1895C>T	CCDS30800.1	.	.	.	.	.	.	.	.	.	.	G	14.80	2.642132	0.47153	.	.	ENSG00000121931	ENST00000369763;ENST00000494675;ENST00000485275	T;T;T	0.36878	1.68;1.23;1.23	5.66	5.66	0.87406	.	0.284808	0.30392	N	0.009740	T	0.36082	0.0954	M	0.68952	2.095	0.36571	D	0.873024	P;P	0.49635	0.926;0.666	P;P	0.48654	0.585;0.461	T	0.29549	-1.0008	10	0.51188	T	0.08	-2.0967	15.2453	0.73502	0.0:0.0:1.0:0.0	.	96;632	Q5T3J3-2;Q5T3J3	.;LRIF1_HUMAN	V	632;96;96	ENSP00000358778:A632V;ENSP00000435259:A96V;ENSP00000432290:A96V	ENSP00000358778:A632V	A	-	2	0	LRIF1	111292519	0.996000	0.38824	1.000000	0.80357	0.422000	0.31414	0.902000	0.28459	2.672000	0.90937	0.591000	0.81541	GCA		0.343	LRIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000032932.2	NM_018372		11	22	0	0	0	0	11	22				
NBPF7	343505	broad.mit.edu	37	1	120382017	120382017	+	IGR	SNP	C	C	G			TCGA-CV-6433-01A-11D-1683-08	TCGA-CV-6433-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b220fa-a554-43c9-85b0-315331e5ba6e	90358019-128e-4a51-95de-13920ef19ab2	g.chr1:120382017C>G								REG4 (27734 upstream) : ADAM30 (54138 downstream)																							TTCTGCTCCTCCCTGATGAGC	0.502																																						uc010oxk.1		NA																	0				ovary(1)|skin(1)	2						c.(628-630)GAG>CAG		hypothetical protein LOC343505							98.0	103.0	102.0					1																	120382017		2203	4300	6503	SO:0001628	intergenic_variant	343505					cytoplasm		g.chr1:120382017C>G																													1.37:g.120382017C>G							p.E210Q	NM_001047980	NP_001041445	P0C2Y1	NBPF7_HUMAN		Lung(183;0.0103)|LUSC - Lung squamous cell carcinoma(189;0.0544)	5	1249	-	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;3.66e-05)|Lung NSC(69;0.000192)|all_epithelial(167;0.0347)	210			NBPF 1.			Missense_Mutation	SNP		37	c.628G>C																																																																																				0	0.502									23	158	0	0	0	0	23	158				
APOA1BP	128240	broad.mit.edu	37	1	156563322	156563322	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6433-01A-11D-1683-08	TCGA-CV-6433-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b220fa-a554-43c9-85b0-315331e5ba6e	90358019-128e-4a51-95de-13920ef19ab2	g.chr1:156563322C>T	ENST00000368234.3	+	5	626	c.583C>T	c.(583-585)Cat>Tat	p.H195Y	APOA1BP_ENST00000368235.3_Silent_p.P213P|APOA1BP_ENST00000368233.3_Silent_p.P213P|GPATCH4_ENST00000497287.1_5'Flank					apolipoprotein A-I binding protein											central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	9	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TCACTGTGCCCATTGCCAGCA	0.577																																						uc001fph.2		NA																	0				central_nervous_system(1)	1						c.(637-639)CCC>CCT		apolipoprotein A-I binding protein precursor							120.0	98.0	105.0					1																	156563322		2203	4300	6503	SO:0001583	missense	128240					extracellular region	protein binding	g.chr1:156563322C>T	AJ315849	CCDS1145.1	1q21	2008-08-14			ENSG00000163382	ENSG00000163382			18453	protein-coding gene	gene with protein product	"""apoA-I binding protein"""	608862				11991719, 17533573	Standard	NM_144772		Approved	AIBP, MGC119143, MGC119144, MGC119145, YJEFN1	uc001fph.3	Q8NCW5	OTTHUMG00000033206	ENST00000368234.3:c.583C>T	1.37:g.156563322C>T	ENSP00000357217:p.His195Tyr					APOA1BP_uc001fpg.2_Silent_p.P213P|APOA1BP_uc001fpi.2_Missense_Mutation_p.H195Y|APOA1BP_uc001fpj.2_Silent_p.P130P|APOA1BP_uc001fpk.2_Silent_p.P110P|APOA1BP_uc010php.1_Silent_p.P110P	p.P213P	NM_144772	NP_658985	Q8NCW5	AIBP_HUMAN			5	678	+	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		213			YjeF N-terminal.			Silent	SNP	ENST00000368234.3	37	c.639C>T		.	.	.	.	.	.	.	.	.	.	C	15.48	2.847185	0.51164	.	.	ENSG00000163382	ENST00000368234	T	0.52754	0.65	5.55	3.6	0.41247	.	.	.	.	.	T	0.06781	0.0173	.	.	.	0.80722	D	1	P	0.35272	0.493	B	0.23275	0.045	T	0.25779	-1.0122	8	0.02654	T	1	.	8.592	0.33693	0.0:0.7599:0.1517:0.0884	.	195	Q5T3I3	.	Y	195	ENSP00000357217:H195Y	ENSP00000357217:H195Y	H	+	1	0	APOA1BP	154829946	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	0.921000	0.28718	0.629000	0.30376	0.655000	0.94253	CAT		0.577	APOA1BP-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000081045.1	NM_144772		5	46	0	0	0	0	5	46				
METTL13	51603	broad.mit.edu	37	1	171756952	171756952	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6433-01A-11D-1683-08	TCGA-CV-6433-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b220fa-a554-43c9-85b0-315331e5ba6e	90358019-128e-4a51-95de-13920ef19ab2	g.chr1:171756952C>A	ENST00000361735.3	+	4	1457	c.1191C>A	c.(1189-1191)gaC>gaA	p.D397E	METTL13_ENST00000458517.1_Missense_Mutation_p.D396E|METTL13_ENST00000362019.3_Missense_Mutation_p.D311E|METTL13_ENST00000367737.5_Missense_Mutation_p.D241E	NM_015935.4	NP_057019.3	Q8N6R0	MET13_HUMAN	methyltransferase like 13	397							methyltransferase activity (GO:0008168)			breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						TGAGCGGTGACTATGTCATTG	0.552																																						uc001ghz.2		NA																	0				kidney(1)	1						c.(1189-1191)GAC>GAA		CGI-01 protein isoform 1							116.0	90.0	99.0					1																	171756952		2203	4300	6503	SO:0001583	missense	51603						methyltransferase activity|protein binding	g.chr1:171756952C>A	AF132936	CCDS1299.1, CCDS1300.1, CCDS30936.1	1q24-q25.3	2009-02-23	2009-02-23	2009-02-23	ENSG00000010165	ENSG00000010165			24248	protein-coding gene	gene with protein product			"""KIAA0859"""	KIAA0859		10810093, 10048485	Standard	NM_001007239		Approved	CGI-01	uc001ghz.3	Q8N6R0	OTTHUMG00000034912	ENST00000361735.3:c.1191C>A	1.37:g.171756952C>A	ENSP00000354920:p.Asp397Glu					METTL13_uc001gia.2_Missense_Mutation_p.D311E|METTL13_uc001gib.2_Missense_Mutation_p.D241E|METTL13_uc010pml.1_Missense_Mutation_p.D396E	p.D397E	NM_015935	NP_057019	Q8N6R0	MTL13_HUMAN			4	1538	+			397					A6NFK0|A8K6S5|O94940|Q53EZ6|Q5TGP9|Q5TGQ0|Q8N2P8|Q96J11|Q96SQ0|Q9Y2Z1|Q9Y3M6	Missense_Mutation	SNP	ENST00000361735.3	37	c.1191C>A	CCDS1299.1	.	.	.	.	.	.	.	.	.	.	C	1.298	-0.605593	0.03717	.	.	ENSG00000010165	ENST00000458517;ENST00000362019;ENST00000367737;ENST00000361735	T;T;T;T	0.76060	-0.99;-0.99;-0.99;-0.99	5.44	2.47	0.30058	.	0.256644	0.43747	D	0.000534	T	0.25232	0.0613	N	0.16307	0.4	0.28247	N	0.925444	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.16630	-1.0396	10	0.08381	T	0.77	-31.8077	3.3997	0.07319	0.1205:0.3892:0.3401:0.1501	.	396;241;397	B4E2X3;Q8N6R0-1;Q8N6R0	.;.;MTL13_HUMAN	E	396;311;241;397	ENSP00000401955:D396E;ENSP00000355393:D311E;ENSP00000356711:D241E;ENSP00000354920:D397E	ENSP00000354920:D397E	D	+	3	2	METTL13	170023575	0.972000	0.33761	0.085000	0.20634	0.050000	0.14768	0.019000	0.13444	0.633000	0.30452	0.655000	0.94253	GAC		0.552	METTL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084528.5	NM_014955		3	33	1	0	0.004672	0.00516058	3	33				
AXDND1	126859	broad.mit.edu	37	1	179460728	179460728	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6433-01A-11D-1683-08	TCGA-CV-6433-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b220fa-a554-43c9-85b0-315331e5ba6e	90358019-128e-4a51-95de-13920ef19ab2	g.chr1:179460728T>G	ENST00000367618.3	+	19	2534	c.2147T>G	c.(2146-2148)aTg>aGg	p.M716R	AL160286.1_ENST00000600581.1_5'Flank|AXDND1_ENST00000457238.2_3'UTR	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	716										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						CTGATTTTAATGATACCCAAC	0.363																																						uc001gmo.2		NA																	0					0						c.(2146-2148)ATG>AGG		hypothetical protein LOC126859 isoform 1							119.0	116.0	117.0					1																	179460728		2203	4300	6503	SO:0001583	missense	126859							g.chr1:179460728T>G	BX647935	CCDS30948.1	1q25.2	2011-02-18	2011-02-18	2011-02-18	ENSG00000162779	ENSG00000162779			26564	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 125"""	C1orf125		14702039	Standard	NM_144696		Approved	FLJ32940	uc001gmo.3	Q5T1B0	OTTHUMG00000035266	ENST00000367618.3:c.2147T>G	1.37:g.179460728T>G	ENSP00000356590:p.Met716Arg					C1orf125_uc009wxg.2_RNA|C1orf125_uc010pnl.1_RNA|C1orf125_uc001gmp.2_Missense_Mutation_p.M716R|C1orf125_uc009wxh.2_RNA	p.M716R	NM_144696	NP_653297	Q5T1B0	AXDN1_HUMAN			19	2274	+			716					Q6AWB2|Q96LJ3|Q96M01	Missense_Mutation	SNP	ENST00000367618.3	37	c.2147T>G	CCDS30948.1	.	.	.	.	.	.	.	.	.	.	T	16.18	3.048889	0.55110	.	.	ENSG00000162779	ENST00000367618;ENST00000360322;ENST00000434088	T;T	0.26957	1.7;1.7	5.5	5.5	0.81552	.	0.240446	0.41823	D	0.000805	T	0.40322	0.1112	L	0.60455	1.87	0.80722	D	1	D;D	0.61080	0.978;0.989	P;P	0.56278	0.676;0.795	T	0.29610	-1.0006	10	0.87932	D	0	1.0223	12.0019	0.53235	0.0:0.0:0.0:1.0	.	674;716	E9PCJ4;Q5T1B0	.;AXDN1_HUMAN	R	716;674;650	ENSP00000356590:M716R;ENSP00000391716:M650R	ENSP00000353471:M674R	M	+	2	0	AXDND1	177727351	1.000000	0.71417	0.765000	0.31456	0.622000	0.37654	3.564000	0.53791	2.085000	0.62840	0.482000	0.46254	ATG		0.363	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085312.1	NM_144696		29	57	0	0	0	0	29	57				
ACTN2	88	broad.mit.edu	37	1	236924422	236924422	+	Silent	SNP	C	C	T			TCGA-CV-6433-01A-11D-1683-08	TCGA-CV-6433-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b220fa-a554-43c9-85b0-315331e5ba6e	90358019-128e-4a51-95de-13920ef19ab2	g.chr1:236924422C>T	ENST00000366578.4	+	20	2641	c.2475C>T	c.(2473-2475)acC>acT	p.T825T	ACTN2_ENST00000542672.1_Silent_p.T825T|ACTN2_ENST00000546208.1_Silent_p.T319T	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	825					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|focal adhesion assembly (GO:0048041)|microspike assembly (GO:0030035)|muscle filament sliding (GO:0030049)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of protein localization to cell surface (GO:2000009)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein homotetramerization (GO:0051289)|regulation of apoptotic process (GO:0042981)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	actin filament (GO:0005884)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|cytoskeletal protein binding (GO:0008092)|FATZ binding (GO:0051373)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|protein dimerization activity (GO:0046983)|structural constituent of muscle (GO:0008307)|thyroid hormone receptor coactivator activity (GO:0030375)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			CGGCTGACACCGACACTGCCG	0.537																																						uc001hyf.2		NA																	0				ovary(4)|skin(1)	5						c.(2473-2475)ACC>ACT		actinin, alpha 2							112.0	99.0	103.0					1																	236924422		2203	4300	6503	SO:0001819	synonymous_variant	88				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding	g.chr1:236924422C>T	BC047901	CCDS1613.1, CCDS60455.1, CCDS73053.1	1q42-q43	2014-09-17			ENSG00000077522	ENSG00000077522		"""EF-hand domain containing"""	164	protein-coding gene	gene with protein product		102573				1339456	Standard	NM_001103		Approved		uc001hyf.2	P35609	OTTHUMG00000040059	ENST00000366578.4:c.2475C>T	1.37:g.236924422C>T						ACTN2_uc001hyg.2_Silent_p.T617T|ACTN2_uc009xgi.1_Silent_p.T825T|ACTN2_uc010pxu.1_Silent_p.T514T|ACTN2_uc001hyh.2_Silent_p.T513T	p.T825T	NM_001103	NP_001094	P35609	ACTN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00168)		20	2679	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	825					B1ANE4|B2RCS5|Q86TF4|Q86TI8	Silent	SNP	ENST00000366578.4	37	c.2475C>T	CCDS1613.1																																																																																				0.537	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096628.1	NM_001103		27	34	0	0	0	0	27	34				
PRKG1	5592	broad.mit.edu	37	10	53564372	53564372	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6433-01A-11D-1683-08	TCGA-CV-6433-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b220fa-a554-43c9-85b0-315331e5ba6e	90358019-128e-4a51-95de-13920ef19ab2	g.chr10:53564372T>A	ENST00000401604.2	+	4	769	c.575T>A	c.(574-576)aTt>aAt	p.I192N	PRKG1_ENST00000373980.4_Missense_Mutation_p.I207N|PRKG1_ENST00000373985.1_Missense_Mutation_p.I180N			Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	192	cGMP-binding, high affinity.				actin cytoskeleton organization (GO:0030036)|blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|dendrite development (GO:0016358)|forebrain development (GO:0030900)|negative regulation of platelet aggregation (GO:0090331)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|regulation of GTPase activity (GO:0043087)|relaxation of vascular smooth muscle (GO:0060087)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		CTCTGGGCCATTGATCGACAA	0.343																																						uc001jjm.2		NA																	0				lung(2)|stomach(1)|ovary(1)|central_nervous_system(1)|skin(1)	6						c.(574-576)ATT>AAT		protein kinase, cGMP-dependent, type I isoform							110.0	104.0	106.0					10																	53564372		2203	4300	6503	SO:0001583	missense	5592				actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity	g.chr10:53564372T>A		CCDS7244.1	10q11.2	2009-07-10			ENSG00000185532	ENSG00000185532	2.7.11.1		9414	protein-coding gene	gene with protein product		176894		PRKGR1B, PRKG1B		2792381, 1544322	Standard	NM_001098512		Approved	PGK, PKG	uc001jjo.3	Q13976	OTTHUMG00000018248	ENST00000401604.2:c.575T>A	10.37:g.53564372T>A	ENSP00000384200:p.Ile192Asn					PRKG1_uc001jjn.2_Missense_Mutation_p.I207N|PRKG1_uc001jjo.2_Missense_Mutation_p.I207N	p.I192N	NM_001098512	NP_001091982	Q13976	KGP1_HUMAN		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)	4	769	+		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)	192			cGMP 1.		A5YM56|B3KSF3|E2PU10|P14619|Q5JP05|Q5JSJ6|Q6P5T7	Missense_Mutation	SNP	ENST00000401604.2	37	c.575T>A	CCDS44399.1	.	.	.	.	.	.	.	.	.	.	T	18.17	3.563951	0.65651	.	.	ENSG00000185532	ENST00000401604;ENST00000373985;ENST00000373980;ENST00000373976	D;D;D;D	0.98060	-4.69;-4.69;-2.39;-2.39	5.42	4.27	0.50696	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.85682	D	0.000000	D	0.99077	0.9683	H	0.97214	3.96	0.58432	D	0.999994	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98718	1.0707	10	0.87932	D	0	-9.6677	10.1613	0.42853	0.1497:0.0:0.0:0.8503	.	207;192	Q13976-2;Q13976	.;KGP1_HUMAN	N	192;180;207;65	ENSP00000384200:I192N;ENSP00000363097:I180N;ENSP00000363092:I207N;ENSP00000363087:I65N	ENSP00000363087:I65N	I	+	2	0	PRKG1	53234378	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	7.628000	0.83189	0.971000	0.38288	-0.468000	0.05107	ATT		0.343	PRKG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				12	36	0	0	0	0	12	36				
GFRA1	2674	broad.mit.edu	37	10	117823944	117823944	+	Silent	SNP	G	G	A			TCGA-CV-6433-01A-11D-1683-08	TCGA-CV-6433-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b220fa-a554-43c9-85b0-315331e5ba6e	90358019-128e-4a51-95de-13920ef19ab2	g.chr10:117823944G>A	ENST00000355422.6	-	11	1913	c.1363C>T	c.(1363-1365)Ctg>Ttg	p.L455L	GFRA1_ENST00000439649.3_Silent_p.L450L|GFRA1_ENST00000544592.1_Silent_p.L334L|GFRA1_ENST00000369236.1_Silent_p.L450L	NM_005264.4	NP_005255.1	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1	455					axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	glial cell-derived neurotrophic factor receptor activity (GO:0016167)|receptor binding (GO:0005102)			endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		AGGGTGGACAGAGCGGTTACC	0.428																																					Ovarian(128;329 1725 45498 46808 50759)	uc001lcj.2		NA																	0				ovary(1)|pancreas(1)	2						c.(1363-1365)CTG>TTG		GDNF family receptor alpha 1 isoform a							143.0	119.0	127.0					10																	117823944		2203	4300	6503	SO:0001819	synonymous_variant	2674				axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity	g.chr10:117823944G>A	AF038421	CCDS7593.1, CCDS44481.1	10q25-q26	2011-01-25			ENSG00000151892	ENSG00000151892			4243	protein-coding gene	gene with protein product		601496		GDNFRA		9465905, 9545641	Standard	NM_005264		Approved	RETL1, GDNFR, GFR-ALPHA-1, RET1L, TRNR1	uc001lcj.3	P56159	OTTHUMG00000019097	ENST00000355422.6:c.1363C>T	10.37:g.117823944G>A						GFRA1_uc001lci.2_Silent_p.L450L|GFRA1_uc009xyr.2_Silent_p.L450L	p.L455L	NM_005264	NP_005255	P56159	GFRA1_HUMAN		all cancers(201;0.0337)	11	2061	-		Lung NSC(174;0.21)	455					A8KA21|O15507|O43912	Silent	SNP	ENST00000355422.6	37	c.1363C>T	CCDS44481.1																																																																																				0.428	GFRA1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050512.2	NM_145793		12	36	0	0	0	0	12	36				
OR4C11	219429	broad.mit.edu	37	11	55371281	55371281	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6433-01A-11D-1683-08	TCGA-CV-6433-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b220fa-a554-43c9-85b0-315331e5ba6e	90358019-128e-4a51-95de-13920ef19ab2	g.chr11:55371281G>A	ENST00000302231.4	-	1	593	c.569C>T	c.(568-570)aCt>aTt	p.T190I		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	190						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						GATCATGTAAGTGTCCATGCA	0.398																																						uc010rii.1		NA																	0				ovary(1)	1						c.(568-570)ACT>ATT		olfactory receptor, family 4, subfamily C,							88.0	73.0	78.0					11																	55371281		2178	4011	6189	SO:0001583	missense	219429				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55371281G>A	AB065774	CCDS31503.1	11q11	2012-08-09		2004-03-10	ENSG00000172188	ENSG00000172188		"""GPCR / Class A : Olfactory receptors"""	15167	protein-coding gene	gene with protein product				OR4C11P			Standard	NM_001004700		Approved		uc010rii.2	Q6IEV9	OTTHUMG00000165290	ENST00000302231.4:c.569C>T	11.37:g.55371281G>A	ENSP00000306651:p.Thr190Ile						p.T190I	NM_001004700	NP_001004700	Q6IEV9	OR4CB_HUMAN			1	569	-			190			Extracellular (Potential).		B9EIL4|Q8NGL8	Missense_Mutation	SNP	ENST00000302231.4	37	c.569C>T	CCDS31503.1	.	.	.	.	.	.	.	.	.	.	G	12.48	1.950837	0.34471	.	.	ENSG00000172188	ENST00000302231	T	0.00245	8.45	4.34	4.34	0.51931	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49916	U	0.000122	T	0.00210	0.0006	L	0.50847	1.595	0.22412	N	0.999121	B	0.20988	0.05	B	0.27076	0.076	T	0.41106	-0.9527	10	0.72032	D	0.01	.	11.9262	0.52820	0.0:0.1763:0.8237:0.0	.	190	Q6IEV9	OR4CB_HUMAN	I	190	ENSP00000306651:T190I	ENSP00000306651:T190I	T	-	2	0	OR4C11	55127857	0.000000	0.05858	0.981000	0.43875	0.887000	0.51463	0.425000	0.21346	2.425000	0.82216	0.478000	0.44815	ACT		0.398	OR4C11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383268.1	NM_001004700		60	46	0	0	0	0	60	46				
RPS6KB2	6199	broad.mit.edu	37	11	67200832	67200832	+	Missense_Mutation	SNP	C	C	T	rs199664699		TCGA-CV-6433-01A-11D-1683-08	TCGA-CV-6433-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b220fa-a554-43c9-85b0-315331e5ba6e	90358019-128e-4a51-95de-13920ef19ab2	g.chr11:67200832C>T	ENST00000312629.5	+	10	865	c.820C>T	c.(820-822)Cgg>Tgg	p.R274W	AP003419.16_ENST00000535922.1_RNA	NM_003952.2	NP_003943.2	Q9UBS0	KS6B2_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 2	274	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of translational initiation (GO:0045948)|protein kinase B signaling (GO:0043491)|signal transduction (GO:0007165)|translation (GO:0006412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|peptide binding (GO:0042277)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ribosomal protein S6 kinase activity (GO:0004711)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|salivary_gland(1)|stomach(2)	25			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			CGCAGAGAACCGGAAGAAAAC	0.632													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18010	0.0		0.0	False		,,,				2504	0.0					uc001old.2		NA																	0				ovary(2)|central_nervous_system(2)|stomach(1)|lung(1)|salivary_gland(1)	7						c.(820-822)CGG>TGG		ribosomal protein S6 kinase, 70kDa, polypeptide							97.0	109.0	105.0					11																	67200832		1969	4139	6108	SO:0001583	missense	6199				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of translational initiation|translation	nucleoplasm	ATP binding|protein serine/threonine kinase activity	g.chr11:67200832C>T	AB019245	CCDS41677.1	11q13.1	2011-04-05	2002-08-29		ENSG00000175634	ENSG00000175634			10437	protein-coding gene	gene with protein product		608939	"""ribosomal protein S6 kinase, 70kD, polypeptide 2"""			9878560, 9804755	Standard	XM_005274164		Approved	p70S6Kb, P70-BETA, STK14B, KLS	uc001old.3	Q9UBS0	OTTHUMG00000167673	ENST00000312629.5:c.820C>T	11.37:g.67200832C>T	ENSP00000308413:p.Arg274Trp					RPS6KB2_uc001olf.2_Missense_Mutation_p.R74W|RPS6KB2_uc001olg.2_Missense_Mutation_p.R274W|RPS6KB2_uc009yrq.2_Missense_Mutation_p.R74W|RPS6KB2_uc001ole.2_RNA|RPS6KB2_uc001olh.2_Intron|RPS6KB2_uc009yrr.2_Missense_Mutation_p.R105W	p.R274W	NM_003952	NP_003943	Q9UBS0	KS6B2_HUMAN	BRCA - Breast invasive adenocarcinoma(15;3.26e-06)		10	902	+			274			Protein kinase.		B2RMZ9|B4DML8|O94809|Q9UEC1	Missense_Mutation	SNP	ENST00000312629.5	37	c.820C>T	CCDS41677.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	17.79	3.475908	0.63737	.	.	ENSG00000175634	ENST00000312629	T	0.66460	-0.21	4.44	4.44	0.53790	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	T	0.77308	0.4111	L	0.58428	1.81	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.79366	-0.1833	10	0.87932	D	0	.	12.0405	0.53450	0.1727:0.8273:0.0:0.0	.	274;274	Q9BRS0;Q9UBS0	.;KS6B2_HUMAN	W	274	ENSP00000308413:R274W	ENSP00000308413:R274W	R	+	1	2	RPS6KB2	66957408	0.999000	0.42202	1.000000	0.80357	0.886000	0.51366	0.538000	0.23160	2.293000	0.77203	0.561000	0.74099	CGG		0.632	RPS6KB2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395508.1	NM_003952		11	78	0	0	0	0	11	78				
CUX2	23316	broad.mit.edu	37	12	111652070	111652070	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6433-01A-11D-1683-08	TCGA-CV-6433-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b220fa-a554-43c9-85b0-315331e5ba6e	90358019-128e-4a51-95de-13920ef19ab2	g.chr12:111652070C>A	ENST00000261726.6	+	2	284	c.130C>A	c.(130-132)Cat>Aat	p.H44N		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	44					cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						TTCTCATAAACATTTAATTGA	0.383																																						uc001tsa.1		NA																	0				ovary(3)|skin(2)|breast(1)	6						c.(130-132)CAT>AAT		cut-like 2							55.0	56.0	56.0					12																	111652070		1816	4080	5896	SO:0001583	missense	23316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:111652070C>A	AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"""Homeoboxes / CUT class"""	19347	protein-coding gene	gene with protein product		610648	"""cut-like 2 (Drosophila)"""	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.130C>A	12.37:g.111652070C>A	ENSP00000261726:p.His44Asn					CUX2_uc001tsb.1_Missense_Mutation_p.H99N	p.H44N	NM_015267	NP_056082	O14529	CUX2_HUMAN			2	283	+			44					A7E2Y4	Missense_Mutation	SNP	ENST00000261726.6	37	c.130C>A	CCDS41837.1	.	.	.	.	.	.	.	.	.	.	C	16.64	3.180224	0.57800	.	.	ENSG00000111249	ENST00000261726;ENST00000397643	T	0.31769	1.48	5.61	5.61	0.85477	.	0.252529	0.31847	N	0.006976	T	0.28034	0.0691	N	0.08118	0	0.41722	D	0.989519	P;P	0.46142	0.873;0.501	P;B	0.49047	0.599;0.202	T	0.10989	-1.0606	10	0.40728	T	0.16	-9.3328	20.0018	0.97417	0.0:1.0:0.0:0.0	.	104;44	F5GWR6;O14529	.;CUX2_HUMAN	N	44;104	ENSP00000261726:H44N	ENSP00000261726:H44N	H	+	1	0	CUX2	110136453	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.445000	0.80570	2.793000	0.96121	0.655000	0.94253	CAT		0.383	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1	NM_015267		4	101	1	0	0.00024832	0.000287439	4	101				
STRC	161497	broad.mit.edu	37	15	43900125	43900126	+	Missense_Mutation	DNP	GT	GT	TC			TCGA-CV-6433-01A-11D-1683-08	TCGA-CV-6433-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b220fa-a554-43c9-85b0-315331e5ba6e	90358019-128e-4a51-95de-13920ef19ab2	g.chr15:43900125_43900126GT>TC	ENST00000450892.2	-	18	3806_3807	c.3729_3730AC>GA	c.(3727-3732)gaACca>gaGAca	p.P1244T	STRC_ENST00000541030.1_Missense_Mutation_p.P471T	NM_153700.2	NP_714544.1	Q7RTU9	STRC_HUMAN	stereocilin	1244					auditory receptor cell stereocilium organization (GO:0060088)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	kinocilium (GO:0060091)|stereocilium bundle tip (GO:0032426)				skin(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		GTCCATTCTGGTTCTGGCATTG	0.535																																						uc001zsf.2		NA																	0					0						c.(3727-3732)GAACCA>GAGACA		stereocilin precursor																																				SO:0001583	missense	161497				sensory perception of sound	cell surface		g.chr15:43900125_43900126GT>TC	BK000138	CCDS10098.1	15q15.3	2010-02-26			ENSG00000242866	ENSG00000242866			16035	protein-coding gene	gene with protein product		606440		DFNB16		11687802, 9429146	Standard	NM_153700		Approved		uc001zsf.3	Q7RTU9	OTTHUMG00000059899	ENST00000450892.2:c.3729_3730delinsTC	15.37:g.43900125_43900126delinsTC	ENSP00000401513:p.Pro1244Thr					STRC_uc010bdl.2_Missense_Mutation_p.P471T|STRC_uc001zse.2_5'UTR	p.P1244T	NM_153700	NP_714544	Q7RTU9	STRC_HUMAN		GBM - Glioblastoma multiforme(94;3.56e-07)	18	3807_3808	-		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)	1244						Missense_Mutation	DNP	ENST00000450892.2	37	c.3729_3730AC>GA	CCDS10098.1																																																																																				0.535	STRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133140.1	NM_153700		22	95	0	0	0	0	22	95				
SCG3	29106	broad.mit.edu	37	15	51981445	51981445	+	Silent	SNP	A	A	G			TCGA-CV-6433-01A-11D-1683-08	TCGA-CV-6433-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b220fa-a554-43c9-85b0-315331e5ba6e	90358019-128e-4a51-95de-13920ef19ab2	g.chr15:51981445A>G	ENST00000220478.3	+	6	973	c.570A>G	c.(568-570)gaA>gaG	p.E190E	SCG3_ENST00000542355.2_5'UTR	NM_013243.3	NP_037375.2	Q8WXD2	SCG3_HUMAN	secretogranin III	190					blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|membrane (GO:0016020)|secretory granule lumen (GO:0034774)	poly(A) RNA binding (GO:0044822)			breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				all cancers(107;0.00488)		ATACACTGGAAGATGAAGTAG	0.368																																						uc002abh.2		NA																	0				ovary(1)	1						c.(568-570)GAA>GAG		secretogranin III isoform 1 precursor							90.0	91.0	91.0					15																	51981445		2195	4293	6488	SO:0001819	synonymous_variant	29106				platelet activation|platelet degranulation	extracellular region|stored secretory granule		g.chr15:51981445A>G	AF078851	CCDS10142.1, CCDS53947.1	15q21.2	2013-09-23			ENSG00000104112	ENSG00000104112			13707	protein-coding gene	gene with protein product		611796				2053134, 8825061	Standard	NM_013243		Approved	SGIII, FLJ90833	uc002abh.3	Q8WXD2	OTTHUMG00000131748	ENST00000220478.3:c.570A>G	15.37:g.51981445A>G						SCG3_uc010ufz.1_5'UTR	p.E190E	NM_013243	NP_037375	Q8WXD2	SCG3_HUMAN		all cancers(107;0.00488)	6	978	+			190					A8K2B0|B3KQP6|B4DK99|F5H3R8|Q96C83|Q96GE8|Q9Y6G7	Silent	SNP	ENST00000220478.3	37	c.570A>G	CCDS10142.1																																																																																				0.368	SCG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254670.2	NM_013243		25	43	0	0	0	0	25	43				
ZNF609	23060	broad.mit.edu	37	15	64967739	64967739	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6433-01A-11D-1683-08	TCGA-CV-6433-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b220fa-a554-43c9-85b0-315331e5ba6e	90358019-128e-4a51-95de-13920ef19ab2	g.chr15:64967739G>A	ENST00000326648.3	+	4	2814	c.2686G>A	c.(2686-2688)Gag>Aag	p.E896K		NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	896						nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.E896Q(1)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCAAGGCTTTGAGAGTTACTA	0.507																																						uc002ann.2		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						c.(2686-2688)GAG>AAG		zinc finger protein 609							88.0	94.0	92.0					15																	64967739		2203	4299	6502	SO:0001583	missense	23060					nucleus	zinc ion binding	g.chr15:64967739G>A	BC014251	CCDS32270.1	15q22.1	2008-05-02				ENSG00000180357		"""Zinc fingers, C2H2-type"""	29003	protein-coding gene	gene with protein product						9205841	Standard	NM_015042		Approved	KIAA0295	uc002ann.3	O15014		ENST00000326648.3:c.2686G>A	15.37:g.64967739G>A	ENSP00000316527:p.Glu896Lys						p.E896K	NM_015042	NP_055857	O15014	ZN609_HUMAN			4	2686	+			896					Q0D2I2	Missense_Mutation	SNP	ENST00000326648.3	37	c.2686G>A	CCDS32270.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.086702	0.76642	.	.	ENSG00000180357	ENST00000326648	T	0.53206	0.63	5.95	5.95	0.96441	.	0.087001	0.85682	D	0.000000	T	0.56529	0.1991	L	0.55481	1.735	0.80722	D	1	P	0.52316	0.952	P	0.49085	0.6	T	0.56486	-0.7971	10	0.59425	D	0.04	-4.4917	20.3854	0.98941	0.0:0.0:1.0:0.0	.	896	O15014	ZN609_HUMAN	K	896	ENSP00000316527:E896K	ENSP00000316527:E896K	E	+	1	0	ZNF609	62754792	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.062000	0.89475	2.825000	0.97269	0.655000	0.94253	GAG		0.507	ZNF609-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418130.1	XM_042833		5	97	0	0	0	0	5	97				
CDH11	1009	broad.mit.edu	37	16	64984710	64984710	+	Silent	SNP	G	G	A	rs372527203		TCGA-CV-6433-01A-11D-1683-08	TCGA-CV-6433-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b220fa-a554-43c9-85b0-315331e5ba6e	90358019-128e-4a51-95de-13920ef19ab2	g.chr16:64984710G>A	ENST00000268603.4	-	12	2469	c.1854C>T	c.(1852-1854)ggC>ggT	p.G618G	CDH11_ENST00000566827.1_Silent_p.G492G|CDH11_ENST00000394156.3_Silent_p.G618G	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	618					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		CGATCAGGGCGCCTGTGCTCA	0.632			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																												uc002eoi.2		NA		Dom	yes		16	16q22.1	1009	T	"""cadherin 11, type 2, OB-cadherin (osteoblast)"""			M	USP6		aneurysmal bone cysts		0				lung(10)|ovary(3)|skin(1)	14						c.(1852-1854)GGC>GGT		cadherin 11, type 2 preproprotein		G		0,4406		0,0,2203	75.0	57.0	63.0		1854	-5.9	0.1	16		63	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CDH11	NM_001797.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		618/797	64984710	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1009				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr16:64984710G>A	D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"""Cadherins / Major cadherins"""	1750	protein-coding gene	gene with protein product	"""OB-Cadherin"""	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.1854C>T	16.37:g.64984710G>A		TSP Lung(24;0.17)				CDH11_uc010cdn.2_RNA|CDH11_uc002eoj.2_Silent_p.G618G|CDH11_uc010vin.1_Silent_p.G492G	p.G618G	NM_001797	NP_001788	P55287	CAD11_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.205)	12	2288	-		Ovarian(137;0.0973)	618			Helical; (Potential).		A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Silent	SNP	ENST00000268603.4	37	c.1854C>T	CCDS10803.1																																																																																				0.632	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268755.1	NM_033664		9	27	0	0	0	0	9	27				
CES2	8824	broad.mit.edu	37	16	66974469	66974469	+	Silent	SNP	G	G	A	rs150055059		TCGA-CV-6433-01A-11D-1683-08	TCGA-CV-6433-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b220fa-a554-43c9-85b0-315331e5ba6e	90358019-128e-4a51-95de-13920ef19ab2	g.chr16:66974469G>A	ENST00000317091.4	+	5	1863	c.879G>A	c.(877-879)gcG>gcA	p.A293A	RP11-361L15.4_ENST00000566869.1_RNA|CES2_ENST00000417689.1_Silent_p.A293A	NM_003869.5	NP_003860.2	O00748	EST2_HUMAN	carboxylesterase 2	229					catabolic process (GO:0009056)	endoplasmic reticulum (GO:0005783)	carboxylic ester hydrolase activity (GO:0052689)|methylumbelliferyl-acetate deacetylase activity (GO:0047374)			breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)	Dabigatran etexilate(DB06695)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Prasugrel(DB06209)	GCGAGTCTGCGGGTGGCACGA	0.607																																					Ovarian(70;1230 1691 37888 38351)	uc002eqr.2		NA																	0					0						c.(877-879)GCG>GCA		carboxylesterase 2 isoform 1		G	,	0,4400		0,0,2200	222.0	179.0	193.0		879,879	-10.6	0.0	16	dbSNP_134	193	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous	CES2	NM_003869.5,NM_198061.2	,	0,3,6497	AA,AG,GG		0.0349,0.0,0.0231	,	293/624,293/608	66974469	3,12997	2200	4300	6500	SO:0001819	synonymous_variant	8824				catabolic process	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	g.chr16:66974469G>A	BC032095	CCDS10825.1, CCDS45507.1	16q22.1	2010-10-12	2010-10-12		ENSG00000172831	ENSG00000172831		"""Carboxylesterases"""	1864	protein-coding gene	gene with protein product		605278	"""carboxylesterase 2 (intestine, liver)"""			9169443, 9144407, 20931200	Standard	NM_198061		Approved	CE-2, iCE, CES2A1	uc002eqr.3	O00748	OTTHUMG00000137517	ENST00000317091.4:c.879G>A	16.37:g.66974469G>A						CES2_uc002eqq.2_Silent_p.A293A|CES2_uc002eqs.2_Silent_p.A136A	p.A293A	NM_003869	NP_003860	O00748	EST2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)	5	1879	+		Ovarian(137;0.0563)	229					A8K367|Q16859|Q5MAB8|Q7Z366|Q8IUP4|Q8TCP8	Silent	SNP	ENST00000317091.4	37	c.879G>A	CCDS10825.1																																																																																				0.607	CES2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268838.2	NM_003869		35	70	0	0	0	0	35	70				
TRAPPC8	22878	broad.mit.edu	37	18	29432467	29432467	+	Splice_Site	SNP	G	G	A			TCGA-CV-6433-01A-11D-1683-08	TCGA-CV-6433-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b220fa-a554-43c9-85b0-315331e5ba6e	90358019-128e-4a51-95de-13920ef19ab2	g.chr18:29432467G>A	ENST00000283351.4	-	24	3838	c.3503C>T	c.(3502-3504)gCg>gTg	p.A1168V	TRAPPC8_ENST00000582539.1_Splice_Site_p.A1114V	NM_014939.3	NP_055754	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	1168					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)		p.A1168V(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CTGTGTGGCCGCTAAAAAACA	0.318																																						uc002kxc.3		NA																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(3502-3504)GCG>GTG		hypothetical protein LOC22878							144.0	153.0	150.0					18																	29432467		2203	4300	6503	SO:0001630	splice_region_variant	22878				ER to Golgi vesicle-mediated transport	cis-Golgi network		g.chr18:29432467G>A	AB023229	CCDS11901.1	18q12.1	2011-10-10	2010-06-29	2010-06-29	ENSG00000153339	ENSG00000153339		"""Trafficking protein particle complex"""	29169	protein-coding gene	gene with protein product	"""general sporulation gene 1 homolog (S. cerevisiae)"""	614136	"""KIAA1012"""	KIAA1012		10231032, 11230166	Standard	NM_014939		Approved	HsT2706, TRS85, GSG1	uc002kxc.4	Q9Y2L5	OTTHUMG00000132267	ENST00000283351.4:c.3503-1C>T	18.37:g.29432467G>A						KIAA1012_uc002kxb.3_Missense_Mutation_p.A1114V|KIAA1012_uc002kxd.3_RNA	p.A1168V	NM_014939	NP_055754	Q9Y2L5	TPPC8_HUMAN			24	3867	-			1168					A0JP15|B3KME5|Q9H0L2	Missense_Mutation	SNP	ENST00000283351.4	37	c.3503C>T	CCDS11901.1	.	.	.	.	.	.	.	.	.	.	G	6.508	0.461987	0.12342	.	.	ENSG00000153339	ENST00000283351	T	0.18810	2.19	5.76	0.0905	0.14464	.	0.235321	0.42172	N	0.000748	T	0.14399	0.0348	L	0.47716	1.5	0.52501	D	0.999957	B	0.14438	0.01	B	0.06405	0.002	T	0.19386	-1.0307	10	0.16420	T	0.52	.	7.6562	0.28377	0.2075:0.5759:0.2165:0.0	.	1168	Q9Y2L5	TPPC8_HUMAN	V	1168	ENSP00000283351:A1168V	ENSP00000283351:A1168V	A	-	2	0	TRAPPC8	27686465	0.998000	0.40836	0.242000	0.24170	0.352000	0.29268	1.989000	0.40707	-0.292000	0.08999	-0.254000	0.11334	GCG		0.318	TRAPPC8-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255355.1	NM_014939	Missense_Mutation	4	186	0	0	0	0	4	186				
MUC16	94025	broad.mit.edu	37	19	9088749	9088749	+	Silent	SNP	G	G	C			TCGA-CV-6433-01A-11D-1683-08	TCGA-CV-6433-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b220fa-a554-43c9-85b0-315331e5ba6e	90358019-128e-4a51-95de-13920ef19ab2	g.chr19:9088749G>C	ENST00000397910.4	-	1	3269	c.3066C>G	c.(3064-3066)ctC>ctG	p.L1022L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1022	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCTCTGTTGTGAGGATGGTTG	0.473																																						uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(3064-3066)CTC>CTG		mucin 16							198.0	187.0	191.0					19																	9088749		1986	4163	6149	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9088749G>C	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.3066C>G	19.37:g.9088749G>C							p.L1022L	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			1	3270	-			1022			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.3066C>G	CCDS54212.1																																																																																				0.473	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		9	144	0	0	0	0	9	144				
GCDH	2639	broad.mit.edu	37	19	13004312	13004312	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6433-01A-11D-1683-08	TCGA-CV-6433-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b220fa-a554-43c9-85b0-315331e5ba6e	90358019-128e-4a51-95de-13920ef19ab2	g.chr19:13004312G>A	ENST00000222214.5	+	6	561	c.350G>A	c.(349-351)gGg>gAg	p.G117E	GCDH_ENST00000422947.2_Missense_Mutation_p.G73E|GCDH_ENST00000457854.1_Missense_Mutation_p.G117E|GCDH_ENST00000591470.1_Missense_Mutation_p.G117E			Q92947	GCDH_HUMAN	glutaryl-CoA dehydrogenase	117					cellular nitrogen compound metabolic process (GO:0034641)|fatty acid oxidation (GO:0019395)|fatty-acyl-CoA biosynthetic process (GO:0046949)|lysine catabolic process (GO:0006554)|small molecule metabolic process (GO:0044281)|tryptophan metabolic process (GO:0006568)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	fatty-acyl-CoA binding (GO:0000062)|flavin adenine dinucleotide binding (GO:0050660)|glutaryl-CoA dehydrogenase activity (GO:0004361)			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)	19					Flavin adenine dinucleotide(DB03147)	GGCTGTGCTGGGGTTTCGTCT	0.597																																					GBM(123;875 1636 7726 16444 26754)	uc002mvq.2		NA																	0					0						c.(349-351)GGG>GAG		glutaryl-Coenzyme A dehydrogenase isoform a							115.0	86.0	96.0					19																	13004312		2203	4300	6503	SO:0001583	missense	2639				lysine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|glutaryl-CoA dehydrogenase activity|protein binding	g.chr19:13004312G>A	AF012342	CCDS12286.1	19p13.2	2010-04-30	2010-04-30			ENSG00000105607	1.3.99.7		4189	protein-coding gene	gene with protein product		608801	"""glutaryl-Coenzyme A dehydrogenase"""			1438360, 8088809	Standard	NM_000159		Approved	ACAD5	uc002mvq.4	Q92947		ENST00000222214.5:c.350G>A	19.37:g.13004312G>A	ENSP00000222214:p.Gly117Glu					GCDH_uc010xms.1_Missense_Mutation_p.G84E|GCDH_uc002mvp.2_Missense_Mutation_p.G117E|GCDH_uc010xmt.1_5'UTR|GCDH_uc010xmu.1_Missense_Mutation_p.G73E	p.G117E	NM_000159	NP_000150	Q92947	GCDH_HUMAN			6	427	+			117					A8K2Z2|O14719	Missense_Mutation	SNP	ENST00000222214.5	37	c.350G>A	CCDS12286.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.959031	0.92726	.	.	ENSG00000105607	ENST00000457854;ENST00000222214;ENST00000421816;ENST00000422947	D;D;D	0.99849	-7.15;-7.15;-7.15	5.19	5.19	0.71726	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA dehydrogenase, N-terminal (1);Acyl-CoA dehydrogenase/oxidase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99802	0.9915	M	0.82823	2.61	0.80722	D	1	P;P;D;P	0.89917	0.887;0.932;1.0;0.886	P;P;D;P	0.74674	0.758;0.768;0.984;0.553	D	0.96911	0.9667	10	0.87932	D	0	.	16.567	0.84601	0.0:0.0:1.0:0.0	.	73;84;117;117	B4DK85;B4DQF2;Q92947;Q92947-2	.;.;GCDH_HUMAN;.	E	117;117;84;73	ENSP00000394872:G117E;ENSP00000222214:G117E;ENSP00000394821:G73E	ENSP00000222214:G117E	G	+	2	0	GCDH	12865312	1.000000	0.71417	0.998000	0.56505	0.930000	0.56654	6.073000	0.71245	2.584000	0.87258	0.563000	0.77884	GGG		0.597	GCDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451897.1			25	27	0	0	0	0	25	27				
CIB3	117286	broad.mit.edu	37	19	16284287	16284287	+	5'UTR	SNP	G	G	A			TCGA-CV-6433-01A-11D-1683-08	TCGA-CV-6433-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b220fa-a554-43c9-85b0-315331e5ba6e	90358019-128e-4a51-95de-13920ef19ab2	g.chr19:16284287G>A	ENST00000269878.4	-	0	49				CIB3_ENST00000379859.3_5'Flank|CIB3_ENST00000541493.1_5'Flank	NM_054113.2	NP_473454.1	Q96Q77	CIB3_HUMAN	calcium and integrin binding family member 3								calcium ion binding (GO:0005509)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16						TGTTGCCCATGGTGTGAACCA	0.587																																						uc002nds.2		NA																	0				ovary(1)	1						c.e1-1		DNA-dependent protein kinase catalytic							207.0	150.0	169.0					19																	16284287		2203	4300	6503	SO:0001623	5_prime_UTR_variant	117286						calcium ion binding	g.chr19:16284287G>A	AB050868	CCDS12340.1, CCDS74305.1	19p13.12	2013-01-10						"""EF-hand domain containing"""	24580	protein-coding gene	gene with protein product		610645					Standard	XM_005259728		Approved	KIP3	uc002nds.3	Q96Q77		ENST00000269878.4:c.-1C>T	19.37:g.16284287G>A						CIB3_uc010eae.2_Splice_Site|CIB3_uc010eaf.2_Splice_Site|CIB3_uc010eag.2_Splice_Site_p.M1_splice	p.M1_splice	NM_054113	NP_473454	Q96Q77	CIB3_HUMAN			1	1	-								E7EUX1|Q2M1W0|Q6ISP1	Splice_Site	SNP	ENST00000269878.4	37	c.1_splice	CCDS12340.1																																																																																				0.587	CIB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460351.1	NM_054113		3	86	0	0	0	0	3	86				
ELL	8178	broad.mit.edu	37	19	18555654	18555654	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CV-6433-01A-11D-1683-08	TCGA-CV-6433-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b220fa-a554-43c9-85b0-315331e5ba6e	90358019-128e-4a51-95de-13920ef19ab2	g.chr19:18555654T>A	ENST00000262809.4	-	12	1845	c.1774A>T	c.(1774-1776)Aag>Tag	p.K592*	ELL_ENST00000596124.3_Nonsense_Mutation_p.K459*|CTD-3137H5.1_ENST00000594590.2_RNA	NM_006532.3	NP_006523.1	P55199	ELL_HUMAN	elongation factor RNA polymerase II	592					gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of viral transcription (GO:0050434)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	phosphatase binding (GO:0019902)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(5)|prostate(1)	19				GBM - Glioblastoma multiforme(1328;7.81e-07)		CAGCGGTGCTTCTCCTGGCTG	0.642			T	MLL	AL																																	uc002njh.2		NA		Dom	yes		19	19p13.1	8178	T	ELL gene (11-19 lysine-rich leukemia gene)			L	MLL		AL		0				lung(1)	1						c.(1774-1776)AAG>TAG		elongation factor RNA polymerase II							118.0	92.0	101.0					19																	18555654		2203	4300	6503	SO:0001587	stop_gained	8178				positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	Cajal body|nuclear speck|transcription elongation factor complex	protein binding	g.chr19:18555654T>A	U16282	CCDS12380.1	19p13.1	2012-04-17	2005-05-23			ENSG00000105656		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	23114	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 68"""	600284	"""chromosome 19 open reading frame 17"""	C19orf17		7991593, 8596958	Standard	NM_006532		Approved	Men, ELL1, PPP1R68	uc002njh.3	P55199		ENST00000262809.4:c.1774A>T	19.37:g.18555654T>A	ENSP00000262809:p.Lys592*					ELL_uc010ebq.2_Nonsense_Mutation_p.K535*|ELL_uc002njg.2_Nonsense_Mutation_p.K459*	p.K592*	NM_006532	NP_006523	P55199	ELL_HUMAN		GBM - Glioblastoma multiforme(1328;7.81e-07)	12	1846	-			592						Nonsense_Mutation	SNP	ENST00000262809.4	37	c.1774A>T	CCDS12380.1	.	.	.	.	.	.	.	.	.	.	T	39	7.463037	0.98299	.	.	ENSG00000105656	ENST00000262809	.	.	.	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-29.5644	13.3329	0.60500	0.0:0.0:0.0:1.0	.	.	.	.	X	592	.	ENSP00000262809:K592X	K	-	1	0	ELL	18416654	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.807000	0.86032	1.838000	0.53458	0.381000	0.24937	AAG		0.642	ELL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466362.1	NM_006532		16	41	0	0	0	0	16	41				
CILP2	148113	broad.mit.edu	37	19	19654666	19654666	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6433-01A-11D-1683-08	TCGA-CV-6433-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b220fa-a554-43c9-85b0-315331e5ba6e	90358019-128e-4a51-95de-13920ef19ab2	g.chr19:19654666T>G	ENST00000291495.5	+	8	1397	c.1312T>G	c.(1312-1314)Tgc>Ggc	p.C438G	CILP2_ENST00000586018.1_Missense_Mutation_p.C444G	NM_153221.2	NP_694953.2	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	438						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						CTCCCGCTGCTGCTCTGTGCG	0.682																																						uc002nmv.3		NA																	0				ovary(1)	1						c.(1312-1314)TGC>GGC		cartilage intermediate layer protein 2							47.0	46.0	47.0					19																	19654666		2202	4300	6502	SO:0001583	missense	148113					proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity	g.chr19:19654666T>G	AF542080	CCDS12405.1	19p13.11	2013-01-14				ENSG00000160161		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	24213	protein-coding gene	gene with protein product		612419				12477932	Standard	NM_153221		Approved	MGC45771	uc002nmv.4	Q8IUL8		ENST00000291495.5:c.1312T>G	19.37:g.19654666T>G	ENSP00000291495:p.Cys438Gly					CILP2_uc002nmw.3_Missense_Mutation_p.C444G	p.C438G	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN			8	1397	+			438					Q6NV88|Q8N4A6|Q8WV21	Missense_Mutation	SNP	ENST00000291495.5	37	c.1312T>G	CCDS12405.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.069684	0.76301	.	.	ENSG00000160161	ENST00000291495	T	0.60548	0.18	4.21	4.21	0.49690	.	0.000000	0.85682	D	0.000000	T	0.71837	0.3387	M	0.68317	2.08	0.58432	D	0.999991	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.74639	-0.3598	10	0.72032	D	0.01	-2.1994	11.3042	0.49325	0.0:0.0:0.0:1.0	.	438;438	B2RAJ0;Q8IUL8	.;CILP2_HUMAN	G	438	ENSP00000291495:C438G	ENSP00000291495:C438G	C	+	1	0	CILP2	19515666	1.000000	0.71417	0.999000	0.59377	0.774000	0.43823	7.736000	0.84948	1.560000	0.49568	0.347000	0.21830	TGC		0.682	CILP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459738.3	NM_153221		33	39	0	0	0	0	33	39				
RYR1	6261	broad.mit.edu	37	19	38979817	38979817	+	Splice_Site	SNP	G	G	A			TCGA-CV-6433-01A-11D-1683-08	TCGA-CV-6433-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b220fa-a554-43c9-85b0-315331e5ba6e	90358019-128e-4a51-95de-13920ef19ab2	g.chr19:38979817G>A	ENST00000359596.3	+	35	5548	c.5548G>A	c.(5548-5550)Gtg>Atg	p.V1850M	RYR1_ENST00000355481.4_Splice_Site_p.V1850M|RYR1_ENST00000360985.3_Splice_Site_p.V1850M			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1850	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	TGTCCTGTAGGTGATGGGCAT	0.532																																						uc002oit.2		NA																	0				ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12						c.(5548-5550)GTG>ATG		skeletal muscle ryanodine receptor isoform 1	Dantrolene(DB01219)						126.0	107.0	113.0					19																	38979817		2203	4300	6503	SO:0001630	splice_region_variant	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38979817G>A	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.5548-1G>A	19.37:g.38979817G>A						RYR1_uc002oiu.2_Missense_Mutation_p.V1850M	p.V1850M	NM_000540	NP_000531	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		35	5678	+	all_cancers(60;7.91e-06)		1850			Cytoplasmic.|6 X approximate repeats.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.5548G>A	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	g	13.69	2.312598	0.40895	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	T;T;T	0.75050	-0.9;-0.9;-0.9	4.06	4.06	0.47325	.	0.088140	0.42964	U	0.000637	T	0.79329	0.4427	L	0.52011	1.625	0.80722	D	1	D;D	0.71674	0.998;0.989	P;D	0.64042	0.862;0.921	T	0.78360	-0.2234	9	.	.	.	.	11.6139	0.51078	0.0:0.0:1.0:0.0	.	1850;1850	P21817-2;P21817	.;RYR1_HUMAN	M	1850	ENSP00000352608:V1850M;ENSP00000347667:V1850M;ENSP00000354254:V1850M	.	V	+	1	0	RYR1	43671657	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	4.040000	0.57333	2.073000	0.62155	0.552000	0.68991	GTG		0.532	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1		Missense_Mutation	11	9	0	0	0	0	11	9				
EXOC3L2	90332	broad.mit.edu	37	19	45716536	45716536	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6433-01A-11D-1683-08	TCGA-CV-6433-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b220fa-a554-43c9-85b0-315331e5ba6e	90358019-128e-4a51-95de-13920ef19ab2	g.chr19:45716536G>A	ENST00000252482.3	-	9	1048	c.1021C>T	c.(1021-1023)Cgg>Tgg	p.R341W	AC006126.3_ENST00000591569.1_Intron|EXOC3L2_ENST00000413988.1_Missense_Mutation_p.R341W			Q2M3D2	EX3L2_HUMAN	exocyst complex component 3-like 2	341					exocytosis (GO:0006887)	exocyst (GO:0000145)		p.R341W(1)		endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00883)		TCCAGGTCCCGGGCCACGGCC	0.657																																						uc002pay.1		NA																	1	Substitution - Missense(1)		large_intestine(1)	ovary(1)	1						c.(1021-1023)CGG>TGG		exocyst complex component 3-like 2							40.0	42.0	41.0					19																	45716536		2203	4300	6503	SO:0001583	missense	90332							g.chr19:45716536G>A	AK093466	CCDS12657.1	19q13.32	2011-07-07			ENSG00000130201	ENSG00000130201			30162	protein-coding gene	gene with protein product						21566143	Standard	NM_138568		Approved	FLJ36147, XTP7	uc002pay.1	Q2M3D2	OTTHUMG00000155018	ENST00000252482.3:c.1021C>T	19.37:g.45716536G>A	ENSP00000252482:p.Arg341Trp						p.R341W	NM_138568	NP_612635	Q2M3D2	EX3L2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00883)	10	1062	-		all_neural(266;0.224)|Ovarian(192;0.231)	341					Q8N9W2|Q96GV2	Missense_Mutation	SNP	ENST00000252482.3	37	c.1021C>T	CCDS12657.1	.	.	.	.	.	.	.	.	.	.	G	19.40	3.820602	0.71028	.	.	ENSG00000130201	ENST00000252482;ENST00000413988	T;T	0.08008	3.14;3.14	4.53	4.53	0.55603	.	0.181571	0.41938	D	0.000791	T	0.24699	0.0599	M	0.62723	1.935	0.33477	D	0.586931	D	0.89917	1.0	D	0.78314	0.991	T	0.28713	-1.0035	10	0.87932	D	0	.	12.7701	0.57415	0.0:0.0:1.0:0.0	.	341	Q2M3D2	EX3L2_HUMAN	W	341	ENSP00000252482:R341W;ENSP00000400713:R341W	ENSP00000252482:R341W	R	-	1	2	EXOC3L2	50408376	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	1.485000	0.35519	2.073000	0.62155	0.455000	0.32223	CGG		0.657	EXOC3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338073.1	NM_138568		9	24	0	0	0	0	9	24				
ZNF880	400713	broad.mit.edu	37	19	52887785	52887785	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6433-01A-11D-1683-08	TCGA-CV-6433-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b220fa-a554-43c9-85b0-315331e5ba6e	90358019-128e-4a51-95de-13920ef19ab2	g.chr19:52887785C>T	ENST00000422689.2	+	4	967	c.952C>T	c.(952-954)Cat>Tat	p.H318Y		NM_001145434.1	NP_001138906.1	Q6PDB4	ZN880_HUMAN	zinc finger protein 880	318					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						TCAGAAAATTCATAGTGGAGA	0.413																																						uc002pzc.2		NA																	0					0						c.(952-954)CAT>TAT		zinc finger protein LOC400713							54.0	50.0	51.0					19																	52887785		1568	3582	5150	SO:0001583	missense	400713				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:52887785C>T	BC058819	CCDS46164.1	19q13.41	2013-01-08			ENSG00000221923	ENSG00000221923		"""Zinc fingers, C2H2-type"", ""-"""	37249	protein-coding gene	gene with protein product							Standard	NM_001145434		Approved		uc002pzc.3	Q6PDB4	OTTHUMG00000167972	ENST00000422689.2:c.952C>T	19.37:g.52887785C>T	ENSP00000406318:p.His318Tyr						p.H318Y	NM_001145434	NP_001138906	Q6PDB4	ZN880_HUMAN			4	1001	+			318			C2H2-type 5.		B4DNA6	Missense_Mutation	SNP	ENST00000422689.2	37	c.952C>T	CCDS46164.1	.	.	.	.	.	.	.	.	.	.	C	14.50	2.554633	0.45487	.	.	ENSG00000221923	ENST00000422689	T	0.67523	-0.27	1.89	1.89	0.25635	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.84911	0.5577	H	0.94886	3.595	0.28076	N	0.932377	D	0.89917	1.0	D	0.97110	1.0	T	0.76141	-0.3068	8	.	.	.	.	10.7676	0.46303	0.0:1.0:0.0:0.0	.	318	Q6PDB4	ZN880_HUMAN	Y	318	ENSP00000406318:H318Y	.	H	+	1	0	ZNF880	57579597	0.957000	0.32711	0.233000	0.24025	0.222000	0.24845	4.174000	0.58256	1.031000	0.39867	0.448000	0.29417	CAT		0.413	ZNF880-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397374.1	NM_001145434		19	13	0	0	0	0	19	13				
ZNF835	90485	broad.mit.edu	37	19	57176313	57176313	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6433-01A-11D-1683-08	TCGA-CV-6433-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b220fa-a554-43c9-85b0-315331e5ba6e	90358019-128e-4a51-95de-13920ef19ab2	g.chr19:57176313G>A	ENST00000537055.2	-	2	485	c.254C>T	c.(253-255)gCg>gTg	p.A85V		NM_001005850.2	NP_001005850.2	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835	85					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A107V(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						CTCCCCAGGCGCGCTGCACCT	0.647																																						uc010ygo.1		NA																	1	Substitution - Missense(1)		large_intestine(1)	pancreas(3)|skin(1)	4						c.(319-321)GCG>GTG		zinc finger protein 835							53.0	58.0	57.0					19																	57176313		2083	4230	6313	SO:0001583	missense	90485							g.chr19:57176313G>A	AK023017	CCDS56105.1	19q13.43	2013-01-08			ENSG00000127903	ENSG00000127903		"""Zinc fingers, C2H2-type"""	34332	protein-coding gene	gene with protein product							Standard	NM_001005850		Approved	BC37295_3	uc010ygn.2	Q9Y2P0		ENST00000537055.2:c.254C>T	19.37:g.57176313G>A	ENSP00000444747:p.Ala85Val					ZNF835_uc010ygn.1_Missense_Mutation_p.A85V	p.A107V	NM_001005850	NP_001005850					2	320	-								B7Z5Y0|G3V1S0	Missense_Mutation	SNP	ENST00000537055.2	37	c.320C>T	CCDS56105.1	.	.	.	.	.	.	.	.	.	.	G	10.63	1.404645	0.25378	.	.	ENSG00000127903	ENST00000342088;ENST00000537055	T	0.06768	3.26	2.58	-0.0592	0.13794	.	.	.	.	.	T	0.03477	0.0100	N	0.14661	0.345	0.09310	N	1	P	0.46859	0.885	B	0.35039	0.194	T	0.38373	-0.9664	9	0.56958	D	0.05	.	3.2604	0.06846	0.1931:0.2662:0.5407:0.0	.	107	Q9Y2P0	ZN835_HUMAN	V	107;85	ENSP00000444747:A85V	ENSP00000341756:A107V	A	-	2	0	ZNF835	61868125	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.134000	0.15932	-0.056000	0.13221	-0.367000	0.07326	GCG		0.647	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459800.1	NM_001005850		10	17	0	0	0	0	10	17				
ASAP2	8853	broad.mit.edu	37	2	9515038	9515038	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6433-01A-11D-1683-08	TCGA-CV-6433-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b220fa-a554-43c9-85b0-315331e5ba6e	90358019-128e-4a51-95de-13920ef19ab2	g.chr2:9515038G>A	ENST00000281419.3	+	17	2051	c.1711G>A	c.(1711-1713)Gat>Aat	p.D571N	ASAP2_ENST00000315273.4_Missense_Mutation_p.D571N	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	571					positive regulation of catalytic activity (GO:0043085)|regulation of ARF GTPase activity (GO:0032312)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|enzyme activator activity (GO:0008047)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						TGATGGTGTGGATCTTACGGA	0.483																																						uc002qzh.2		NA																	0					0						c.(1711-1713)GAT>AAT		ArfGAP with SH3 domain, ankyrin repeat and PH							92.0	93.0	93.0					2																	9515038		2203	4300	6503	SO:0001583	missense	8853				regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding	g.chr2:9515038G>A	AB007860	CCDS1661.1, CCDS46224.1	2p24	2013-01-10	2008-09-22	2008-09-22	ENSG00000151693	ENSG00000151693		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2721	protein-coding gene	gene with protein product	"""centaurin, beta 3"""	603817	"""development and differentiation enhancing factor 2"""	DDEF2		10022920, 9455477	Standard	NM_003887		Approved	KIAA0400, PAP, SHAG1, CENTB3	uc002qzh.2	O43150	OTTHUMG00000117485	ENST00000281419.3:c.1711G>A	2.37:g.9515038G>A	ENSP00000281419:p.Asp571Asn					ASAP2_uc002qzi.2_Missense_Mutation_p.D571N	p.D571N	NM_003887	NP_003878	O43150	ASAP2_HUMAN			17	2051	+			571					D6W4Y8	Missense_Mutation	SNP	ENST00000281419.3	37	c.1711G>A	CCDS1661.1	.	.	.	.	.	.	.	.	.	.	G	33	5.286343	0.95517	.	.	ENSG00000151693	ENST00000281419;ENST00000315273	T;T	0.61040	0.16;0.14	5.27	5.27	0.74061	Ankyrin repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.75788	0.3897	M	0.70275	2.135	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.80764	0.994;0.98	T	0.75841	-0.3175	10	0.45353	T	0.12	.	18.882	0.92358	0.0:0.0:1.0:0.0	.	571;571	O43150-2;O43150	.;ASAP2_HUMAN	N	571	ENSP00000281419:D571N;ENSP00000316404:D571N	ENSP00000281419:D571N	D	+	1	0	ASAP2	9432489	1.000000	0.71417	0.998000	0.56505	0.861000	0.49209	9.860000	0.99555	2.450000	0.82876	0.655000	0.94253	GAT		0.483	ASAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000237522.1	NM_003887		23	39	0	0	0	0	23	39				
TMEFF2	23671	broad.mit.edu	37	2	192922459	192922459	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6433-01A-11D-1683-08	TCGA-CV-6433-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b220fa-a554-43c9-85b0-315331e5ba6e	90358019-128e-4a51-95de-13920ef19ab2	g.chr2:192922459G>A	ENST00000272771.5	-	5	1666	c.482C>T	c.(481-483)aCc>aTc	p.T161I	TMEFF2_ENST00000392314.1_Missense_Mutation_p.T161I	NM_016192.2	NP_057276.2	Q9UIK5	TEFF2_HUMAN	transmembrane protein with EGF-like and two follistatin-like domains 2	161						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			AATATCACAGGTGGATGTCTC	0.378																																					Pancreas(50;1277 1381 28487 47072)	uc002utc.2		NA																	0				lung(2)|pancreas(1)|breast(1)|skin(1)	5						c.(481-483)ACC>ATC		transmembrane protein with EGF-like and two							127.0	113.0	118.0					2																	192922459		2203	4300	6503	SO:0001583	missense	23671					extracellular region|integral to membrane		g.chr2:192922459G>A	AB017269	CCDS2314.1	2q32.3	2010-05-04			ENSG00000144339	ENSG00000144339			11867	protein-coding gene	gene with protein product	"""transmembrane protein TENB2"", ""tomoregulin"", ""cancer/testis antigen family 120, member 2"""	605734				10903839	Standard	NM_016192		Approved	TENB2, HPP1, TR, TPEF, CT120.2	uc002utc.3	Q9UIK5	OTTHUMG00000132723	ENST00000272771.5:c.482C>T	2.37:g.192922459G>A	ENSP00000272771:p.Thr161Ile						p.T161I	NM_016192	NP_057276	Q9UIK5	TEFF2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0835)		5	876	-			161			Extracellular (Potential).		Q2FA44|Q4ZFW4|Q53H90|Q53RE1|Q8N2R5|Q9NR15|Q9NSS5|Q9P2Y9|Q9UK65	Missense_Mutation	SNP	ENST00000272771.5	37	c.482C>T	CCDS2314.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.621904	0.87460	.	.	ENSG00000144339	ENST00000392314;ENST00000272771	T;T	0.13778	2.56;2.56	4.93	4.93	0.64822	.	0.054782	0.64402	N	0.000001	T	0.21962	0.0529	N	0.19112	0.55	0.80722	D	1	D	0.69078	0.997	P	0.62184	0.899	T	0.02625	-1.1132	10	0.37606	T	0.19	-13.7879	18.7107	0.91655	0.0:0.0:1.0:0.0	.	161	Q9UIK5	TEFF2_HUMAN	I	161	ENSP00000376128:T161I;ENSP00000272771:T161I	ENSP00000272771:T161I	T	-	2	0	TMEFF2	192630704	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.654000	0.74387	2.713000	0.92767	0.655000	0.94253	ACC		0.378	TMEFF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256065.2	NM_016192		26	50	0	0	0	0	26	50				
KIF3B	9371	broad.mit.edu	37	20	30897975	30897975	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6433-01A-11D-1683-08	TCGA-CV-6433-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b220fa-a554-43c9-85b0-315331e5ba6e	90358019-128e-4a51-95de-13920ef19ab2	g.chr20:30897975G>T	ENST00000375712.3	+	2	562	c.395G>T	c.(394-396)cGa>cTa	p.R132L	KIF3B_ENST00000418717.2_5'Flank	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	132	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|determination of left/right symmetry (GO:0007368)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic spindle organization (GO:0007052)|plus-end-directed vesicle transport along microtubule (GO:0072383)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|plus-end kinesin complex (GO:0005873)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|Rho GTPase binding (GO:0017048)			NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CACATCTCTCGATCCCAGAAT	0.463																																						uc002wxq.2		NA																	0				central_nervous_system(3)|ovary(2)	5						c.(394-396)CGA>CTA		kinesin family member 3B							66.0	61.0	63.0					20																	30897975		2203	4300	6503	SO:0001583	missense	9371				anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding	g.chr20:30897975G>T	AB002357	CCDS13200.1	20q11.21	2012-08-01			ENSG00000101350	ENSG00000101350		"""Kinesins"""	6320	protein-coding gene	gene with protein product		603754				9205841	Standard	NM_004798		Approved	KIAA0359, FLA8, KLP-11	uc002wxq.3	O15066	OTTHUMG00000032214	ENST00000375712.3:c.395G>T	20.37:g.30897975G>T	ENSP00000364864:p.Arg132Leu					KIF3B_uc010ztv.1_Missense_Mutation_p.R132L|KIF3B_uc010ztw.1_Missense_Mutation_p.R132L	p.R132L	NM_004798	NP_004789	O15066	KIF3B_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		2	562	+			132			Kinesin-motor.		B2RMP4|B4DSR5|E1P5M5	Missense_Mutation	SNP	ENST00000375712.3	37	c.395G>T	CCDS13200.1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.853685	0.51270	.	.	ENSG00000101350	ENST00000375712	T	0.75260	-0.92	5.25	4.31	0.51392	Kinesin, motor domain (4);	0.000000	0.85682	D	0.000000	T	0.62171	0.2406	N	0.25825	0.765	0.80722	D	1	B;B	0.14438	0.0;0.01	B;B	0.14578	0.004;0.011	T	0.57653	-0.7774	10	0.33940	T	0.23	.	13.8088	0.63250	0.0732:0.0:0.9268:0.0	.	132;132	B4DYF2;O15066	.;KIF3B_HUMAN	L	132	ENSP00000364864:R132L	ENSP00000364864:R132L	R	+	2	0	KIF3B	30361636	1.000000	0.71417	0.980000	0.43619	0.998000	0.95712	9.657000	0.98554	1.454000	0.47793	0.561000	0.74099	CGA		0.463	KIF3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078619.1	NM_004798		5	102	1	0	1.64e-10	2.05e-10	5	102				
MAPK11	5600	broad.mit.edu	37	22	50703752	50703752	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6433-01A-11D-1683-08	TCGA-CV-6433-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b220fa-a554-43c9-85b0-315331e5ba6e	90358019-128e-4a51-95de-13920ef19ab2	g.chr22:50703752T>C	ENST00000330651.6	-	11	1113	c.1013A>G	c.(1012-1014)aAg>aGg	p.K338R	MAPK11_ENST00000495277.1_5'Flank	NM_002751.5	NP_002742.3	Q15759	MK11_HUMAN	mitogen-activated protein kinase 11	338					activation of MAPK activity (GO:0000187)|gene expression (GO:0010467)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mRNA metabolic process (GO:0016071)|muscle cell differentiation (GO:0042692)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of muscle cell differentiation (GO:0051149)|Ras protein signal transduction (GO:0007265)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|lung(4)	6		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	Regorafenib(DB08896)	ATGCTCACCCTTCCACTCCTC	0.637																																					GBM(9;634 739 50668)	uc003bkr.2		NA																	0				lung(1)|breast(1)	2						c.(1012-1014)AAG>AGG		mitogen-activated protein kinase 11							75.0	63.0	67.0					22																	50703752		2203	4300	6503	SO:0001583	missense	5600				activation of MAPK activity|innate immune response|mRNA metabolic process|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding	g.chr22:50703752T>C	Y14440	CCDS14090.1	22q13.33	2011-06-09			ENSG00000185386	ENSG00000185386	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6873	protein-coding gene	gene with protein product		602898		PRKM11		9218798	Standard	NM_002751		Approved	p38-2, p38Beta, SAPK2	uc003bkr.3	Q15759	OTTHUMG00000150226	ENST00000330651.6:c.1013A>G	22.37:g.50703752T>C	ENSP00000333685:p.Lys338Arg					MAPK11_uc010hax.2_Missense_Mutation_p.K160R|MAPK11_uc011ars.1_RNA|MAPK11_uc010hay.1_RNA	p.K338R	NM_002751	NP_002742	Q15759	MK11_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	11	1071	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	338					A8K730|B0LPG1|B7Z630|E7ETQ1|L7RT27|O00284|O15472|Q2XNF2	Missense_Mutation	SNP	ENST00000330651.6	37	c.1013A>G	CCDS14090.1	.	.	.	.	.	.	.	.	.	.	T	10.65	1.409952	0.25465	.	.	ENSG00000185386	ENST00000330651	T	0.59224	0.28	4.33	3.29	0.37713	Protein kinase-like domain (1);	0.055824	0.64402	U	0.000002	T	0.44265	0.1285	L	0.41124	1.26	0.80722	D	1	B	0.25441	0.126	B	0.21708	0.036	T	0.41305	-0.9516	10	0.41790	T	0.15	.	8.2608	0.31783	0.0:0.0991:0.0:0.9009	.	338	Q15759	MK11_HUMAN	R	338	ENSP00000333685:K338R	ENSP00000333685:K338R	K	-	2	0	MAPK11	49045879	1.000000	0.71417	1.000000	0.80357	0.127000	0.20565	2.593000	0.46180	1.580000	0.49851	0.459000	0.35465	AAG		0.637	MAPK11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316900.1			3	63	0	0	0	0	3	63				
SACM1L	22908	broad.mit.edu	37	3	45776796	45776796	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6433-01A-11D-1683-08	TCGA-CV-6433-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b220fa-a554-43c9-85b0-315331e5ba6e	90358019-128e-4a51-95de-13920ef19ab2	g.chr3:45776796G>A	ENST00000389061.5	+	14	1374	c.1170G>A	c.(1168-1170)atG>atA	p.M390I	SACM1L_ENST00000541314.1_Missense_Mutation_p.M329I|SACM1L_ENST00000418611.1_Missense_Mutation_p.M287I	NM_014016.3	NP_054735.3	Q9NTJ5	SAC1_HUMAN	SAC1 suppressor of actin mutations 1-like (yeast)	390	SAC. {ECO:0000255|PROSITE- ProRule:PRU00183}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of endoplasmic reticulum membrane (GO:0030176)	phosphatase activity (GO:0016791)|phosphatidylinositol bisphosphate phosphatase activity (GO:0034593)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphatidylinositol-4-phosphate phosphatase activity (GO:0043812)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277)		GCAATTGCATGGATTGTCTAG	0.408																																						uc003cos.2		NA																	0				ovary(1)	1						c.(1168-1170)ATG>ATA		suppressor of actin 1							170.0	149.0	156.0					3																	45776796		2203	4300	6503	SO:0001583	missense	22908					Golgi apparatus		g.chr3:45776796G>A	AB020658	CCDS33745.1	3p21.3	2010-03-11			ENSG00000211456	ENSG00000211456			17059	protein-coding gene	gene with protein product		606569				10048485, 11352561	Standard	NM_014016		Approved	SAC1, KIAA0851	uc003cos.2	Q9NTJ5	OTTHUMG00000156653	ENST00000389061.5:c.1170G>A	3.37:g.45776796G>A	ENSP00000373713:p.Met390Ile					SACM1L_uc011bag.1_Missense_Mutation_p.M287I|SACM1L_uc011bah.1_Missense_Mutation_p.M324I|SACM1L_uc003cot.2_Missense_Mutation_p.M33I	p.M390I	NM_014016	NP_054735	Q9NTJ5	SAC1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277)	14	1374	+			390			SAC.		A8K527|B4DK71|O94935|Q7LA14|Q7LA22|Q96AX7|Q9NQ46|Q9NQ57	Missense_Mutation	SNP	ENST00000389061.5	37	c.1170G>A	CCDS33745.1	.	.	.	.	.	.	.	.	.	.	G	17.31	3.357317	0.61293	.	.	ENSG00000211456	ENST00000418611;ENST00000389061;ENST00000541314;ENST00000433336	T;T;T;T	0.20738	2.05;2.05;2.05;2.05	5.68	5.68	0.88126	Synaptojanin, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.10981	0.0268	N	0.04355	-0.22	0.80722	D	1	B;B;B	0.16396	0.017;0.004;0.014	B;B;B	0.21360	0.034;0.004;0.008	T	0.12604	-1.0541	10	0.02654	T	1	-2.1168	19.7934	0.96469	0.0:0.0:1.0:0.0	.	329;33;390	B4DK71;B3KX17;Q9NTJ5	.;.;SAC1_HUMAN	I	287;390;329;67	ENSP00000396387:M287I;ENSP00000373713:M390I;ENSP00000443373:M329I;ENSP00000412883:M67I	ENSP00000373713:M390I	M	+	3	0	SACM1L	45751800	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	2.678000	0.91216	0.585000	0.79938	ATG		0.408	SACM1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345065.2	NM_014016		19	53	0	0	0	0	19	53				
CELSR3	1951	broad.mit.edu	37	3	48699612	48699613	+	Missense_Mutation	DNP	AC	AC	TT			TCGA-CV-6433-01A-11D-1683-08	TCGA-CV-6433-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b220fa-a554-43c9-85b0-315331e5ba6e	90358019-128e-4a51-95de-13920ef19ab2	g.chr3:48699612_48699613AC>TT	ENST00000164024.4	-	1	735_736	c.455_456GT>AA	c.(454-456)aGT>aAA	p.S152K	CELSR3_ENST00000544264.1_Missense_Mutation_p.S152K|RP11-148G20.1_ENST00000421275.1_RNA	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	152					axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CTGGTGACAGACTACCTCTTTG	0.629																																						uc003cul.2		NA																	0				ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11						c.(454-456)AGT>AAA		cadherin EGF LAG seven-pass G-type receptor 3																																				SO:0001583	missense	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48699612_48699613AC>TT	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.455_456delinsTT	3.37:g.48699612_48699613delinsTT	ENSP00000164024:p.Ser152Lys					CELSR3_uc003cuf.1_Missense_Mutation_p.S222K	p.S152K	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	1	736_737	-			152			Extracellular (Potential).		O75092	Missense_Mutation	DNP	ENST00000164024.4	37	c.455_456GT>AA	CCDS2775.1																																																																																				0.629	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		45	85	0	0	0	0	45	85				
LRRIQ4	344657	broad.mit.edu	37	3	169540270	169540270	+	Silent	SNP	C	C	G			TCGA-CV-6433-01A-11D-1683-08	TCGA-CV-6433-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b220fa-a554-43c9-85b0-315331e5ba6e	90358019-128e-4a51-95de-13920ef19ab2	g.chr3:169540270C>G	ENST00000340806.6	+	1	561	c.561C>G	c.(559-561)ctC>ctG	p.L187L		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	187										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						TCTGTGTTCTCTACACCCTGG	0.488																																						uc003fgb.2		NA																	0					0						c.(559-561)CTC>CTG		leucine-rich repeats and IQ motif containing 4							74.0	76.0	75.0					3																	169540270		1859	4109	5968	SO:0001819	synonymous_variant	344657							g.chr3:169540270C>G		CCDS46951.1	3q26.2	2008-08-08	2008-06-12	2008-06-12	ENSG00000188306	ENSG00000188306			34298	protein-coding gene	gene with protein product	"""leucine rich repeat containing 64"""						Standard	NM_001080460		Approved	LRRC64	uc003fgb.3	A6NIV6	OTTHUMG00000164420	ENST00000340806.6:c.561C>G	3.37:g.169540270C>G							p.L187L	NM_001080460	NP_001073929	A6NIV6	LRIQ4_HUMAN			1	561	+			187			LRR 7.			Silent	SNP	ENST00000340806.6	37	c.561C>G	CCDS46951.1																																																																																				0.488	LRRIQ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378698.1	NM_001080460		4	124	0	0	0	0	4	124				
STIM2	57620	broad.mit.edu	37	4	27003875	27003875	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6433-01A-11D-1683-08	TCGA-CV-6433-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b220fa-a554-43c9-85b0-315331e5ba6e	90358019-128e-4a51-95de-13920ef19ab2	g.chr4:27003875C>T	ENST00000467011.1	+	6	1087	c.662C>T	c.(661-663)aCa>aTa	p.T221I	STIM2_ENST00000465503.1_Missense_Mutation_p.T221I|STIM2_ENST00000382009.3_Missense_Mutation_p.T308I|STIM2_ENST00000467087.1_Missense_Mutation_p.T221I|STIM2_ENST00000412829.2_Missense_Mutation_p.T308I|STIM2_ENST00000237364.5_Missense_Mutation_p.T308I	NM_001169117.1	NP_001162588	Q9P246	STIM2_HUMAN	stromal interaction molecule 2	221					activation of store-operated calcium channel activity (GO:0032237)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|positive regulation of calcium ion transport (GO:0051928)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|store-operated calcium channel activity (GO:0015279)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	25		Breast(46;0.0503)				TTTATCCTCACAGTTTCTATA	0.343																																						uc003gsh.3		NA																	0				central_nervous_system(1)|skin(1)	2						c.(922-924)ACA>ATA		stromal interaction molecule 2							69.0	70.0	70.0					4																	27003875		2203	4300	6503	SO:0001583	missense	57620				activation of store-operated calcium channel activity|calcium ion transport|cellular calcium ion homeostasis|negative regulation of calcium ion transport via store-operated calcium channel activity	endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel regulator activity|calcium ion binding|protein binding	g.chr4:27003875C>T	AB040915	CCDS3440.1, CCDS3440.2, CCDS54751.1, CCDS54752.1	4p15.2	2013-01-10			ENSG00000109689	ENSG00000109689		"""Sterile alpha motif (SAM) domain containing"""	19205	protein-coding gene	gene with protein product		610841				11463338	Standard	NM_020860		Approved		uc003gsh.4	Q9P246	OTTHUMG00000097805	ENST00000467011.1:c.662C>T	4.37:g.27003875C>T	ENSP00000419383:p.Thr221Ile					STIM2_uc003gsg.3_Missense_Mutation_p.T308I|STIM2_uc010iex.2_Missense_Mutation_p.T308I|STIM2_uc010iey.2_5'Flank	p.T308I	NM_020860	NP_065911	Q9P246	STIM2_HUMAN			6	1139	+		Breast(46;0.0503)	221			Helical; (Potential).		A6H8L7|B7ZVY0|Q96BF1|Q9BQH2|Q9H8R1	Missense_Mutation	SNP	ENST00000467011.1	37	c.923C>T	CCDS54752.1	.	.	.	.	.	.	.	.	.	.	C	12.22	1.873215	0.33069	.	.	ENSG00000109689	ENST00000467087;ENST00000382009;ENST00000237364;ENST00000467011;ENST00000412829;ENST00000465503	T;T;T;T;T;T	0.76060	-0.96;-0.98;-0.98;-0.96;-0.99;-0.96	5.5	3.79	0.43588	.	0.132070	0.64402	N	0.000002	T	0.49457	0.1558	N	0.03608	-0.345	0.44780	D	0.99778	B;B;B	0.17268	0.01;0.012;0.021	B;B;B	0.18561	0.007;0.01;0.022	T	0.33574	-0.9863	9	.	.	.	.	12.2281	0.54472	0.0:0.8622:0.0:0.1378	.	308;308;308	A6H8L7;E9PGD0;F5GXJ4	.;.;.	I	221;308;308;221;308;221	ENSP00000419073:T221I;ENSP00000371439:T308I;ENSP00000237364:T308I;ENSP00000419383:T221I;ENSP00000404812:T308I;ENSP00000417569:T221I	.	T	+	2	0	STIM2	26612973	0.983000	0.35010	0.995000	0.50966	0.999000	0.98932	2.255000	0.43222	0.826000	0.34661	0.650000	0.86243	ACA		0.343	STIM2-003	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000356861.1	NM_020860		3	37	0	0	0	0	3	37				
TEC	7006	broad.mit.edu	37	4	48169913	48169913	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6433-01A-11D-1683-08	TCGA-CV-6433-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b220fa-a554-43c9-85b0-315331e5ba6e	90358019-128e-4a51-95de-13920ef19ab2	g.chr4:48169913C>T	ENST00000381501.3	-	7	710	c.553G>A	c.(553-555)Gta>Ata	p.V185I		NM_003215.2	NP_003206.2	P42680	TEC_HUMAN	tec protein tyrosine kinase	185	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				B cell receptor signaling pathway (GO:0050853)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of platelet activation (GO:0010543)|tissue regeneration (GO:0042246)	cell-cell junction (GO:0005911)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						TACATGGCTACAACGATTTCT	0.393																																						uc003gxz.2		NA																	0				lung(4)|stomach(1)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)	9						c.(553-555)GTA>ATA		tec protein tyrosine kinase							183.0	173.0	176.0					4																	48169913		2203	4300	6503	SO:0001583	missense	7006				intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr4:48169913C>T	D29767	CCDS3481.1	4p12	2013-02-14			ENSG00000135605	ENSG00000135605		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	11719	protein-coding gene	gene with protein product		600583				7934162	Standard	NM_003215		Approved	PSCTK4	uc003gxz.3	P42680	OTTHUMG00000128623	ENST00000381501.3:c.553G>A	4.37:g.48169913C>T	ENSP00000370912:p.Val185Ile						p.V185I	NM_003215	NP_003206	P42680	TEC_HUMAN			7	644	-			185			SH3.		B7ZKZ6|Q3MIS5	Missense_Mutation	SNP	ENST00000381501.3	37	c.553G>A	CCDS3481.1	.	.	.	.	.	.	.	.	.	.	C	8.112	0.778908	0.16120	.	.	ENSG00000135605	ENST00000381501	T	0.47528	0.84	5.71	3.94	0.45596	Src homology-3 domain (5);	0.301800	0.31370	N	0.007770	T	0.24586	0.0596	N	0.05554	-0.025	0.37721	D	0.924914	B	0.06786	0.001	B	0.13407	0.009	T	0.08680	-1.0710	10	0.21540	T	0.41	.	8.3322	0.32193	0.0:0.7529:0.0:0.2471	.	185	P42680	TEC_HUMAN	I	185	ENSP00000370912:V185I	ENSP00000370912:V185I	V	-	1	0	TEC	47864670	0.998000	0.40836	0.976000	0.42696	0.311000	0.27955	1.467000	0.35321	0.739000	0.32628	0.491000	0.48974	GTA		0.393	TEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250492.3			6	97	0	0	0	0	6	97				
GNRHR	2798	broad.mit.edu	37	4	68610290	68610290	+	Silent	SNP	G	G	A			TCGA-CV-6433-01A-11D-1683-08	TCGA-CV-6433-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b220fa-a554-43c9-85b0-315331e5ba6e	90358019-128e-4a51-95de-13920ef19ab2	g.chr4:68610290G>A	ENST00000226413.4	-	2	762	c.738C>T	c.(736-738)ccC>ccT	p.P246P	SNORA62_ENST00000365504.1_RNA|GNRHR_ENST00000420975.2_Missense_Mutation_p.P204S|UBA6-AS1_ENST00000502758.1_RNA|UBA6-AS1_ENST00000500538.2_RNA	NM_000406.2	NP_000397.1	P30968	GNRHR_HUMAN	gonadotropin-releasing hormone receptor	246					cellular response to gonadotropin-releasing hormone (GO:0097211)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	gonadotropin-releasing hormone receptor activity (GO:0004968)			endometrium(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	13					Abarelix(DB00106)|Buserelin(DB06719)|Cetrorelix(DB00050)|Danazol(DB01406)|Degarelix(DB06699)|Gonadorelin(DB00644)|Goserelin(DB00014)|Leuprolide(DB00007)|Nafarelin(DB00666)	ACATACCGTGGGGGTCCTGAT	0.428																																						uc003hdn.2		NA																	0				ovary(1)	1						c.(736-738)CCC>CCT		gonadotropin-releasing hormone receptor isoform	Abarelix(DB00106)|Cetrorelix(DB00050)|Danazol(DB01406)|Gonadorelin(DB00644)|Leuprolide(DB00007)|Nafarelin(DB00666)						67.0	71.0	70.0					4																	68610290		2203	4300	6503	SO:0001819	synonymous_variant	2798				multicellular organismal development	integral to plasma membrane	gonadotropin-releasing hormone receptor activity	g.chr4:68610290G>A		CCDS3517.1, CCDS47064.1	4q21.2	2012-08-08			ENSG00000109163	ENSG00000109163		"""GPCR / Class A : Gonadotropin-releasing hormone receptors"""	4421	protein-coding gene	gene with protein product		138850		GRHR		8386108	Standard	NM_000406		Approved	LHRHR	uc003hdn.3	P30968	OTTHUMG00000129302	ENST00000226413.4:c.738C>T	4.37:g.68610290G>A						LOC550112_uc003hdl.3_Intron|GNRHR_uc003hdm.2_Missense_Mutation_p.P204S	p.P246P	NM_000406	NP_000397	P30968	GNRHR_HUMAN			2	2489	-			246			Cytoplasmic (Potential).		O75793|Q14D13|Q92644	Silent	SNP	ENST00000226413.4	37	c.738C>T	CCDS3517.1	.	.	.	.	.	.	.	.	.	.	G	0.009	-1.822270	0.00589	.	.	ENSG00000109163	ENST00000420975	T	0.78707	-1.2	5.31	1.46	0.22682	.	0.338446	0.25717	N	0.028763	T	0.54367	0.1854	.	.	.	0.22266	N	0.999249	B	0.06786	0.001	B	0.06405	0.002	T	0.23797	-1.0178	9	0.16896	T	0.51	-6.7441	3.1034	0.06334	0.0871:0.151:0.4294:0.3326	.	204	P30968-2	.	S	204	ENSP00000397561:P204S	ENSP00000397561:P204S	P	-	1	0	GNRHR	68292885	0.998000	0.40836	0.993000	0.49108	0.163000	0.22366	0.165000	0.16564	0.283000	0.22279	-0.162000	0.13425	CCA		0.428	GNRHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251432.2			20	26	0	0	0	0	20	26				
ANKRD17	26057	broad.mit.edu	37	4	73963791	73963791	+	Splice_Site	SNP	T	T	G			TCGA-CV-6433-01A-11D-1683-08	TCGA-CV-6433-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b220fa-a554-43c9-85b0-315331e5ba6e	90358019-128e-4a51-95de-13920ef19ab2	g.chr4:73963791T>G	ENST00000358602.4	-	26	5136	c.5020A>C	c.(5020-5022)Aaa>Caa	p.K1674Q	ANKRD17_ENST00000330838.6_Splice_Site_p.K1423Q|ANKRD17_ENST00000509867.2_Splice_Site_p.K1561Q	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1674	Ser-rich.				blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GGAACTAACTTTATTGAAGCC	0.333																																						uc003hgp.2		NA																	0				ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1)	10						c.(5020-5022)AAA>CAA		ankyrin repeat domain protein 17 isoform a							90.0	90.0	90.0					4																	73963791		2203	4300	6503	SO:0001630	splice_region_variant	26057				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding	g.chr4:73963791T>G	AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"""Ankyrin repeat domain containing"""	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.5021+1A>C	4.37:g.73963791T>G						ANKRD17_uc003hgo.2_Missense_Mutation_p.K1561Q|ANKRD17_uc003hgq.2_Missense_Mutation_p.K1423Q|ANKRD17_uc003hgr.2_Missense_Mutation_p.K1673Q	p.K1674Q	NM_032217	NP_115593	O75179	ANR17_HUMAN	Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		26	5137	-	Breast(15;0.000295)		1674			Ser-rich.		E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Missense_Mutation	SNP	ENST00000358602.4	37	c.5020A>C	CCDS34004.1	.	.	.	.	.	.	.	.	.	.	T	14.84	2.654116	0.47362	.	.	ENSG00000132466	ENST00000358602;ENST00000426990;ENST00000330838;ENST00000509867;ENST00000426917	T;T;T	0.22539	1.95;1.95;1.95	5.18	5.18	0.71444	.	0.000000	0.64402	D	0.000001	T	0.31888	0.0811	N	0.19112	0.55	0.43069	D	0.994701	D;D;D;D	0.61080	0.989;0.989;0.981;0.981	D;D;D;D	0.72625	0.978;0.978;0.95;0.95	T	0.19582	-1.0301	10	0.72032	D	0.01	.	15.321	0.74120	0.0:0.0:0.0:1.0	.	1673;1423;1674;1561	O75179-2;G5E964;O75179;E7EUV3	.;.;ANR17_HUMAN;.	Q	1674;1081;1423;1561;58	ENSP00000351416:K1674Q;ENSP00000332265:K1423Q;ENSP00000427151:K1561Q	ENSP00000332265:K1423Q	K	-	1	0	ANKRD17	74182655	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.461000	0.66699	2.091000	0.63221	0.482000	0.46254	AAA		0.333	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217	Missense_Mutation	28	50	0	0	0	0	28	50				
SMARCA5	8467	broad.mit.edu	37	4	144467996	144467996	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6433-01A-11D-1683-08	TCGA-CV-6433-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b220fa-a554-43c9-85b0-315331e5ba6e	90358019-128e-4a51-95de-13920ef19ab2	g.chr4:144467996A>G	ENST00000283131.3	+	20	3050	c.2588A>G	c.(2587-2589)gAt>gGt	p.D863G		NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	863	SANT 1. {ECO:0000255|PROSITE- ProRule:PRU00624}.				ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA-templated transcription, initiation (GO:0006352)|double-strand break repair (GO:0006302)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromatin silencing complex (GO:0005677)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NURF complex (GO:0016589)|RSF complex (GO:0031213)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)		EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					TGGGGTCGTGATGATATTGAA	0.338																																						uc003ijg.2		NA																	0				skin(1)	1						c.(2587-2589)GAT>GGT		SWI/SNF-related matrix-associated							93.0	99.0	97.0					4																	144467996		2203	4299	6502	SO:0001583	missense	8467				CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	condensed chromosome|nucleolus|nucleoplasm|NURF complex|RSF complex	ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding	g.chr4:144467996A>G	AB010882	CCDS3761.1	4q31.1-q31.2	2011-04-20			ENSG00000153147	ENSG00000153147			11101	protein-coding gene	gene with protein product		603375				9730600	Standard	NM_003601		Approved	hSNF2H, hISWI, ISWI	uc003ijg.3	O60264	OTTHUMG00000161474	ENST00000283131.3:c.2588A>G	4.37:g.144467996A>G	ENSP00000283131:p.Asp863Gly						p.D863G	NM_003601	NP_003592	O60264	SMCA5_HUMAN			20	3050	+	all_hematologic(180;0.158)		863			SANT 1.			Missense_Mutation	SNP	ENST00000283131.3	37	c.2588A>G	CCDS3761.1	.	.	.	.	.	.	.	.	.	.	A	16.96	3.264947	0.59431	.	.	ENSG00000153147	ENST00000283131;ENST00000536484;ENST00000535006	D	0.91521	-2.86	5.23	5.23	0.72850	SANT domain, DNA binding (1);Homeodomain-like (1);SANT, eukarya (1);	0.000000	0.85682	D	0.000000	D	0.87981	0.6315	L	0.50919	1.6	0.80722	D	1	B	0.02656	0.0	B	0.09377	0.004	D	0.84491	0.0611	10	0.45353	T	0.12	0.5477	15.1127	0.72372	1.0:0.0:0.0:0.0	.	863	O60264	SMCA5_HUMAN	G	863;806;806	ENSP00000283131:D863G	ENSP00000283131:D863G	D	+	2	0	SMARCA5	144687446	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.060000	0.93907	1.971000	0.57363	0.533000	0.62120	GAT		0.338	SMARCA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365077.3			15	31	0	0	0	0	15	31				
TRIM2	23321	broad.mit.edu	37	4	154249705	154249705	+	Silent	SNP	C	C	T			TCGA-CV-6433-01A-11D-1683-08	TCGA-CV-6433-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b220fa-a554-43c9-85b0-315331e5ba6e	90358019-128e-4a51-95de-13920ef19ab2	g.chr4:154249705C>T	ENST00000437508.2	+	11	2166	c.1965C>T	c.(1963-1965)ttC>ttT	p.F655F	TRIM2_ENST00000338700.5_Silent_p.F682F	NM_001130067.1	NP_001123539.1	Q9C040	TRIM2_HUMAN	tripartite motif containing 2	655					cell death (GO:0008219)|regulation of neuron apoptotic process (GO:0043523)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)		AAGGAGAATTCATGTTGAAGT	0.343																																						uc003ing.2		NA																	0				central_nervous_system(1)	1						c.(1963-1965)TTC>TTT		tripartite motif-containing 2 isoform 2							109.0	100.0	103.0					4																	154249705		2203	4300	6503	SO:0001819	synonymous_variant	23321					cytoplasm	zinc ion binding	g.chr4:154249705C>T	AF220018	CCDS3781.2, CCDS47147.1	4q31.3	2013-01-09	2011-01-25		ENSG00000109654	ENSG00000109654		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	15974	protein-coding gene	gene with protein product		614141	"""tripartite motif-containing 2"""			9628581, 11331580	Standard	NM_015271		Approved	KIAA0517, RNF86	uc003inh.2	Q9C040	OTTHUMG00000155991	ENST00000437508.2:c.1965C>T	4.37:g.154249705C>T						TRIM2_uc003inh.2_Silent_p.F682F	p.F655F	NM_001130067	NP_001123539	Q9C040	TRIM2_HUMAN		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)	11	2166	+	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)	655					D3DP09|O60272|Q9BSI9|Q9UFZ1	Silent	SNP	ENST00000437508.2	37	c.1965C>T	CCDS47147.1																																																																																				0.343	TRIM2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342652.1			15	30	0	0	0	0	15	30				
ZNF608	57507	broad.mit.edu	37	5	123977043	123977043	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6433-01A-11D-1683-08	TCGA-CV-6433-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b220fa-a554-43c9-85b0-315331e5ba6e	90358019-128e-4a51-95de-13920ef19ab2	g.chr5:123977043C>T	ENST00000306315.5	-	7	4787	c.4352G>A	c.(4351-4353)cGc>cAc	p.R1451H	ZNF608_ENST00000513985.1_5'UTR|ZNF608_ENST00000504926.1_Missense_Mutation_p.R1024H	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	1451							metal ion binding (GO:0046872)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		GGGGGAGTGGCGATCCCTTTC	0.557																																						uc003ktq.1		NA																	0				skin(3)|ovary(2)|lung(1)	6						c.(4351-4353)CGC>CAC		zinc finger protein 608							154.0	135.0	141.0					5																	123977043		2203	4300	6503	SO:0001583	missense	57507					intracellular	zinc ion binding	g.chr5:123977043C>T	AB033107	CCDS34219.1	5q23.2	2008-05-02			ENSG00000168916	ENSG00000168916		"""Zinc fingers, C2H2-type"""	29238	protein-coding gene	gene with protein product						10574462, 10508479	Standard	NM_020747		Approved	KIAA1281, DKFZp434M098, NY-REN-36	uc003ktq.1	Q9ULD9	OTTHUMG00000162999	ENST00000306315.5:c.4352G>A	5.37:g.123977043C>T	ENSP00000307746:p.Arg1451His					ZNF608_uc003ktr.1_Intron|ZNF608_uc003ktp.1_Missense_Mutation_p.R146H	p.R1451H	NM_020747	NP_065798	Q9ULD9	ZN608_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)	7	4475	-		all_cancers(142;0.186)|Prostate(80;0.081)	1451					A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	Missense_Mutation	SNP	ENST00000306315.5	37	c.4352G>A	CCDS34219.1	.	.	.	.	.	.	.	.	.	.	C	35	5.578497	0.96565	.	.	ENSG00000168916	ENST00000504926;ENST00000306315	T;T	0.50277	0.78;0.75	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.69061	0.3069	M	0.66939	2.045	0.58432	D	0.999997	D	0.89917	1.0	D	0.74023	0.982	T	0.69135	-0.5225	10	0.62326	D	0.03	-20.1344	20.0426	0.97596	0.0:1.0:0.0:0.0	.	1451	Q9ULD9	ZN608_HUMAN	H	1024;1451	ENSP00000427657:R1024H;ENSP00000307746:R1451H	ENSP00000307746:R1451H	R	-	2	0	ZNF608	124004942	0.999000	0.42202	1.000000	0.80357	0.977000	0.68977	2.374000	0.44274	2.747000	0.94245	0.643000	0.83706	CGC		0.557	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371300.1	XM_114432		4	76	0	0	0	0	4	76				
PCDHGB6	56100	broad.mit.edu	37	5	140788902	140788902	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6433-01A-11D-1683-08	TCGA-CV-6433-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b220fa-a554-43c9-85b0-315331e5ba6e	90358019-128e-4a51-95de-13920ef19ab2	g.chr5:140788902G>C	ENST00000520790.1	+	1	1133	c.1133G>C	c.(1132-1134)gGa>gCa	p.G378A	PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6	378	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATTTCGGAGGAAATGGAGAA	0.413																																						uc003lkj.1		NA																	0					0						c.(1132-1134)GGA>GCA		protocadherin gamma subfamily B, 6 isoform 1							53.0	53.0	53.0					5																	140788902		1865	4114	5979	SO:0001583	missense	56100				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140788902G>C	AF152522	CCDS54929.1, CCDS75342.1	5q31	2010-01-26				ENSG00000253305		"""Cadherins / Protocadherins : Clustered"""	8713	other	protocadherin		606303				10380929	Standard	NM_018926		Approved	PCDH-GAMMA-B6		Q9Y5F9		ENST00000520790.1:c.1133G>C	5.37:g.140788902G>C	ENSP00000428603:p.Gly378Ala					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lki.1_Missense_Mutation_p.G378A	p.G378A	NM_018926	NP_061749	Q9Y5F9	PCDGI_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1133	+			378			Extracellular (Potential).|Cadherin 4.		Q9Y5C5	Missense_Mutation	SNP	ENST00000520790.1	37	c.1133G>C	CCDS54929.1	.	.	.	.	.	.	.	.	.	.	g	10.24	1.296725	0.23650	.	.	ENSG00000253305	ENST00000520790	T	0.49139	0.79	5.37	-8.48	0.00935	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.19127	0.0459	N	0.02286	-0.61	0.09310	N	1	B;B	0.14012	0.009;0.007	B;B	0.26614	0.071;0.043	T	0.40776	-0.9545	9	0.42905	T	0.14	.	8.2436	0.31675	0.4657:0.0:0.4336:0.1007	.	378;378	Q9Y5F9;Q9Y5F9-2	PCDGI_HUMAN;.	A	378	ENSP00000428603:G378A	ENSP00000428603:G378A	G	+	2	0	PCDHGB6	140769086	0.000000	0.05858	0.021000	0.16686	0.953000	0.61014	0.129000	0.15830	-1.938000	0.01046	0.563000	0.77884	GGA		0.413	PCDHGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374746.1	NM_018926		19	21	0	0	0	0	19	21				
NMUR2	56923	broad.mit.edu	37	5	151784417	151784417	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6433-01A-11D-1683-08	TCGA-CV-6433-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b220fa-a554-43c9-85b0-315331e5ba6e	90358019-128e-4a51-95de-13920ef19ab2	g.chr5:151784417G>T	ENST00000255262.3	-	1	423	c.258C>A	c.(256-258)agC>agA	p.S86R	NMUR2_ENST00000518933.1_Intron	NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	86					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|arachidonic acid secretion (GO:0050482)|calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|cell-cell signaling (GO:0007267)|central nervous system development (GO:0007417)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|feeding behavior (GO:0007631)|grooming behavior (GO:0007625)|inositol phosphate-mediated signaling (GO:0048016)|neuropeptide signaling pathway (GO:0007218)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|reduction of food intake in response to dietary excess (GO:0002023)|regulation of smooth muscle contraction (GO:0006940)|response to pain (GO:0048265)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|GTP binding (GO:0005525)|intracellular calcium activated chloride channel activity (GO:0005229)|neuromedin U binding (GO:0042924)|neuromedin U receptor activity (GO:0001607)			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			AGACCGCCAGGCTGAAGAGGT	0.572																																						uc003luv.2		NA																	0				ovary(3)|skin(2)|lung(1)|breast(1)|pancreas(1)	8						c.(256-258)AGC>AGA		neuromedin U receptor 2							103.0	104.0	104.0					5																	151784417		2203	4300	6503	SO:0001583	missense	56923				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity	g.chr5:151784417G>T	AF242874	CCDS4321.1	5q33.1	2012-08-08		2004-05-28	ENSG00000132911	ENSG00000132911		"""GPCR / Class A : Neuromedin U receptors"""	16454	protein-coding gene	gene with protein product		605108		NMU2R		8940772, 10894543	Standard	NM_020167		Approved		uc003luv.2	Q9GZQ4	OTTHUMG00000130131	ENST00000255262.3:c.258C>A	5.37:g.151784417G>T	ENSP00000255262:p.Ser86Arg						p.S86R	NM_020167	NP_064552	Q9GZQ4	NMUR2_HUMAN	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)		1	424	-		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	86			Helical; Name=2; (Potential).		Q7LC54|Q96AM5|Q9NRA6	Missense_Mutation	SNP	ENST00000255262.3	37	c.258C>A	CCDS4321.1	.	.	.	.	.	.	.	.	.	.	G	17.53	3.412998	0.62511	.	.	ENSG00000132911	ENST00000255262	T	0.40756	1.02	5.54	3.75	0.43078	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.77698	0.4169	H	0.99498	4.595	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84410	0.0565	10	0.87932	D	0	-23.4933	10.5275	0.44957	0.1542:0.0:0.8458:0.0	.	86	Q9GZQ4	NMUR2_HUMAN	R	86	ENSP00000255262:S86R	ENSP00000255262:S86R	S	-	3	2	NMUR2	151764610	1.000000	0.71417	0.990000	0.47175	0.601000	0.36947	4.359000	0.59449	1.342000	0.45619	0.655000	0.94253	AGC		0.572	NMUR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252439.1	NM_020167		30	68	1	0	2e-19	2.52e-19	30	68				
DSP	1832	broad.mit.edu	37	6	7571657	7571657	+	Silent	SNP	C	C	T	rs139095230		TCGA-CV-6433-01A-11D-1683-08	TCGA-CV-6433-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b220fa-a554-43c9-85b0-315331e5ba6e	90358019-128e-4a51-95de-13920ef19ab2	g.chr6:7571657C>T	ENST00000379802.3	+	14	2084	c.1743C>T	c.(1741-1743)gcC>gcT	p.A581A	DSP_ENST00000418664.2_Silent_p.A581A	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	581	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AGACGATAGCCGACCTTGAGT	0.443																																						uc003mxp.1		NA																	0				central_nervous_system(6)|ovary(2)|skin(1)	9						c.(1741-1743)GCC>GCT		desmoplakin isoform I		C	,	0,4406		0,0,2203	240.0	236.0	237.0		1743,1743	-11.3	0.0	6	dbSNP_134	237	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	DSP	NM_001008844.1,NM_004415.2	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	581/2273,581/2872	7571657	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7571657C>T	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.1743C>T	6.37:g.7571657C>T						DSP_uc003mxq.1_Silent_p.A581A	p.A581A	NM_004415	NP_004406	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	14	2022	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	581			Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Silent	SNP	ENST00000379802.3	37	c.1743C>T	CCDS4501.1																																																																																				0.443	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		6	237	0	0	0	0	6	237				
IP6K3	117283	broad.mit.edu	37	6	33690555	33690555	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6433-01A-11D-1683-08	TCGA-CV-6433-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b220fa-a554-43c9-85b0-315331e5ba6e	90358019-128e-4a51-95de-13920ef19ab2	g.chr6:33690555T>C	ENST00000293756.4	-	6	1501	c.1175A>G	c.(1174-1176)tAt>tGt	p.Y392C	IP6K3_ENST00000451316.1_Missense_Mutation_p.Y392C	NM_054111.4	NP_473452.2	Q96PC2	IP6K3_HUMAN	inositol hexakisphosphate kinase 3	392					inositol phosphate biosynthetic process (GO:0032958)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol metabolic process (GO:0046488)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol hexakisphosphate 6-kinase activity (GO:0000831)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			skin(1)	1						GCCAAAAATATAGCCAGGGTC	0.483																																						uc010jvf.2		NA																	0					0						c.(1174-1176)TAT>TGT		inositol hexakisphosphate kinase 3							141.0	146.0	144.0					6																	33690555		2203	4300	6503	SO:0001583	missense	117283				inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation	cytoplasm	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity	g.chr6:33690555T>C	AF393812	CCDS34435.1	6p21.31	2009-01-05	2009-01-05	2008-12-22	ENSG00000161896	ENSG00000161896			17269	protein-coding gene	gene with protein product		606993	"""inositol hexaphosphate kinase 3"""	IHPK3		11502751	Standard	NM_054111		Approved	INSP6K3	uc003ofb.2	Q96PC2	OTTHUMG00000014531	ENST00000293756.4:c.1175A>G	6.37:g.33690555T>C	ENSP00000293756:p.Tyr392Cys					IP6K3_uc003ofb.2_Missense_Mutation_p.Y392C	p.Y392C	NM_001142883	NP_001136355	Q96PC2	IP6K3_HUMAN			7	1711	-			392					Q96MQ9	Missense_Mutation	SNP	ENST00000293756.4	37	c.1175A>G	CCDS34435.1	.	.	.	.	.	.	.	.	.	.	T	16.62	3.174405	0.57692	.	.	ENSG00000161896	ENST00000451316;ENST00000293756	T;T	0.21191	2.02;2.02	5.99	2.05	0.26809	.	0.785568	0.11800	N	0.528186	T	0.39358	0.1075	M	0.90082	3.085	0.41546	D	0.988549	D	0.89917	1.0	D	0.70016	0.967	T	0.39961	-0.9588	10	0.62326	D	0.03	-6.3517	10.8984	0.47036	0.3778:0.0:0.0:0.6222	.	392	Q96PC2	IP6K3_HUMAN	C	392	ENSP00000398861:Y392C;ENSP00000293756:Y392C	ENSP00000293756:Y392C	Y	-	2	0	IP6K3	33798533	1.000000	0.71417	0.972000	0.41901	0.975000	0.68041	2.632000	0.46511	0.096000	0.17463	0.533000	0.62120	TAT		0.483	IP6K3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040203.1	NM_054111		29	82	0	0	0	0	29	82				
CEP162	22832	broad.mit.edu	37	6	84862866	84862866	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6433-01A-11D-1683-08	TCGA-CV-6433-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b220fa-a554-43c9-85b0-315331e5ba6e	90358019-128e-4a51-95de-13920ef19ab2	g.chr6:84862866C>A	ENST00000403245.3	-	23	3141	c.3027G>T	c.(3025-3027)gaG>gaT	p.E1009D	KIAA1009_ENST00000257766.4_Missense_Mutation_p.E933D|KIAA1009_ENST00000461137.1_5'UTR	NM_014895.2	NP_055710.2														breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		CAAGTAGCTGCTCCTGCTGCT	0.428																																						uc010kbp.2		NA																	0				ovary(1)	1						c.(3025-3027)GAG>GAT		KIAA1009 protein							66.0	61.0	63.0					6																	84862866		2203	4300	6503	SO:0001583	missense	22832				cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding	g.chr6:84862866C>A																												ENST00000403245.3:c.3027G>T	6.37:g.84862866C>A	ENSP00000385215:p.Glu1009Asp					KIAA1009_uc003pkj.3_Missense_Mutation_p.E933D|KIAA1009_uc003pki.3_Missense_Mutation_p.E395D	p.E1009D	NM_014895	NP_055710	Q5TB80	QN1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.089)	23	3124	-		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)	1009			Potential.			Missense_Mutation	SNP	ENST00000403245.3	37	c.3027G>T	CCDS34494.2	.	.	.	.	.	.	.	.	.	.	C	13.14	2.149525	0.37923	.	.	ENSG00000135315	ENST00000257766;ENST00000403245	T;T	0.43294	0.95;0.99	4.96	-0.083	0.13696	.	0.090739	0.47455	N	0.000223	T	0.29491	0.0735	M	0.80183	2.485	0.25425	N	0.988236	P	0.51791	0.948	P	0.47941	0.562	T	0.30995	-0.9959	10	0.48119	T	0.1	-7.748	8.0379	0.30504	0.0:0.5193:0.1019:0.3788	.	1009	Q5TB80	QN1_HUMAN	D	933;1009	ENSP00000257766:E933D;ENSP00000385215:E1009D	ENSP00000257766:E933D	E	-	3	2	KIAA1009	84919585	0.707000	0.27866	0.972000	0.41901	0.573000	0.36030	-0.310000	0.08135	-0.559000	0.06110	-2.042000	0.00416	GAG		0.428	KIAA1009-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317315.1			5	14	1	0	0.00116845	0.00133424	5	14				
ZNF292	23036	broad.mit.edu	37	6	87968193	87968193	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6433-01A-11D-1683-08	TCGA-CV-6433-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b220fa-a554-43c9-85b0-315331e5ba6e	90358019-128e-4a51-95de-13920ef19ab2	g.chr6:87968193A>G	ENST00000369577.3	+	8	4889	c.4846A>G	c.(4846-4848)Aga>Gga	p.R1616G	ZNF292_ENST00000339907.4_Missense_Mutation_p.R1611G	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1616						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		TCAGAACACAAGATCCAGTCA	0.393																																						uc003plm.3		NA																	0				ovary(4)	4						c.(4846-4848)AGA>GGA		zinc finger protein 292							65.0	59.0	61.0					6																	87968193		1863	4105	5968	SO:0001583	missense	23036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:87968193A>G	AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.4846A>G	6.37:g.87968193A>G	ENSP00000358590:p.Arg1616Gly						p.R1616G	NM_015021	NP_055836	O60281	ZN292_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0199)	8	4887	+		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)	1616					Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Missense_Mutation	SNP	ENST00000369577.3	37	c.4846A>G	CCDS47457.1	.	.	.	.	.	.	.	.	.	.	A	8.571	0.880055	0.17467	.	.	ENSG00000188994	ENST00000369577;ENST00000339907	T;T	0.06528	3.29;3.3	5.94	4.79	0.61399	.	0.270122	0.36444	N	0.002583	T	0.01092	0.0036	N	0.12182	0.205	0.34458	D	0.70139	B	0.06786	0.001	B	0.08055	0.003	T	0.49390	-0.8945	10	0.16420	T	0.52	.	5.4678	0.16652	0.8203:0.0:0.1797:0.0	.	1616	O60281	ZN292_HUMAN	G	1616;1611	ENSP00000358590:R1616G;ENSP00000342847:R1611G	ENSP00000342847:R1611G	R	+	1	2	ZNF292	88024912	0.994000	0.37717	0.988000	0.46212	0.960000	0.62799	3.243000	0.51392	2.272000	0.75746	0.460000	0.39030	AGA		0.393	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021		7	21	0	0	0	0	7	21				
FRK	2444	broad.mit.edu	37	6	116288718	116288718	+	Silent	SNP	T	T	C			TCGA-CV-6433-01A-11D-1683-08	TCGA-CV-6433-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b220fa-a554-43c9-85b0-315331e5ba6e	90358019-128e-4a51-95de-13920ef19ab2	g.chr6:116288718T>C	ENST00000606080.1	-	4	1241	c.795A>G	c.(793-795)aaA>aaG	p.K265K	FRK_ENST00000538210.1_Silent_p.K123K	NM_002031.2	NP_002022.1	P42685	FRK_HUMAN	fyn-related Src family tyrosine kinase	265	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)	Regorafenib(DB08896)	TCGCACCTGGTTTTAATGTTT	0.403																																						uc003pwi.1		NA																	0				ovary(3)|lung(3)	6						c.(793-795)AAA>AAG		fyn-related kinase							193.0	180.0	185.0					6																	116288718		2203	4300	6503	SO:0001819	synonymous_variant	2444				negative regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr6:116288718T>C	U00803	CCDS5103.1	6q21-q22.3	2014-06-25	2014-06-25		ENSG00000111816	ENSG00000111816	2.7.10.1	"""SH2 domain containing"""	3955	protein-coding gene	gene with protein product		606573	"""PTK5 protein tyrosine kinase 5"", ""fyn-related kinase"""	PTK5		7510261	Standard	NM_002031		Approved	RAK, GTK	uc003pwi.1	P42685	OTTHUMG00000015424	ENST00000606080.1:c.795A>G	6.37:g.116288718T>C							p.K265K	NM_002031	NP_002022	P42685	FRK_HUMAN		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)	4	1242	-		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)	265			Protein kinase.		B4DY49|Q13128|Q9NTR5	Silent	SNP	ENST00000606080.1	37	c.795A>G	CCDS5103.1																																																																																				0.403	FRK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041924.2	NM_002031		9	126	0	0	0	0	9	126				
UTRN	7402	broad.mit.edu	37	6	145093097	145093097	+	Silent	SNP	A	A	G			TCGA-CV-6433-01A-11D-1683-08	TCGA-CV-6433-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b220fa-a554-43c9-85b0-315331e5ba6e	90358019-128e-4a51-95de-13920ef19ab2	g.chr6:145093097A>G	ENST00000367545.3	+	58	8550	c.8550A>G	c.(8548-8550)caA>caG	p.Q2850Q	UTRN_ENST00000367526.4_Silent_p.Q405Q	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2850	Interaction with SYNM.				aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		AACTCTTTCAATCCCTTGGTA	0.269																																						uc003qkt.2		NA																	0				ovary(4)|pancreas(1)	5						c.(8548-8550)CAA>CAG		utrophin							64.0	69.0	68.0					6																	145093097		2203	4300	6503	SO:0001819	synonymous_variant	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:145093097A>G	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.8550A>G	6.37:g.145093097A>G							p.Q2850Q	NM_007124	NP_009055	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	58	8642	+		Ovarian(120;0.218)	2850			Interaction with SYNM.		Q5SYY1|Q5SZ57|Q9UJ40	Silent	SNP	ENST00000367545.3	37	c.8550A>G	CCDS34547.1																																																																																				0.269	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			17	44	0	0	0	0	17	44				
ARID1B	57492	broad.mit.edu	37	6	157502235	157502235	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6433-01A-11D-1683-08	TCGA-CV-6433-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b220fa-a554-43c9-85b0-315331e5ba6e	90358019-128e-4a51-95de-13920ef19ab2	g.chr6:157502235C>G	ENST00000350026.5	+	11	3230	c.3229C>G	c.(3229-3231)Ctg>Gtg	p.L1077V	ARID1B_ENST00000367148.1_Missense_Mutation_p.L1130V|ARID1B_ENST00000346085.5_Missense_Mutation_p.L1090V|ARID1B_ENST00000478761.2_3'UTR|ARID1B_ENST00000275248.4_Missense_Mutation_p.L1072V	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1077	ARID. {ECO:0000255|PROSITE- ProRule:PRU00355}.				chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		TGTCTCAAGTCTGCCTGCCGT	0.577																																						uc003qqn.2		NA																	0				ovary(1)|breast(1)	2						c.(3214-3216)CTG>GTG		AT rich interactive domain 1B (SWI1-like)							75.0	68.0	70.0					6																	157502235		2203	4296	6499	SO:0001583	missense	57492				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr6:157502235C>G	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.3229C>G	6.37:g.157502235C>G	ENSP00000055163:p.Leu1077Val					ARID1B_uc003qqo.2_Missense_Mutation_p.L1032V|ARID1B_uc003qqp.2_Missense_Mutation_p.L1019V|ARID1B_uc010kjl.2_Missense_Mutation_p.L217V	p.L1072V	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	12	3366	+		Breast(66;0.000162)|Ovarian(120;0.0265)	1077			ARID.		Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Missense_Mutation	SNP	ENST00000350026.5	37	c.3214C>G	CCDS5251.2	.	.	.	.	.	.	.	.	.	.	C	20.4	3.983305	0.74474	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000354354;ENST00000414678;ENST00000319584;ENST00000400790	T;T;T;T;T;T;T	0.64085	-0.08;-0.08;-0.08;-0.08;-0.08;-0.08;-0.08	5.76	4.89	0.63831	ARID/BRIGHT DNA-binding domain (5);	0.000000	0.85682	D	0.000000	T	0.62648	0.2445	L	0.35288	1.05	0.80722	D	1	D;D;D;D	0.63880	0.992;0.993;0.992;0.992	D;D;D;D	0.85130	0.995;0.997;0.995;0.995	T	0.69632	-0.5093	10	0.72032	D	0.01	.	14.5763	0.68249	0.0:0.9304:0.0:0.0696	.	327;1077;1090;1072	Q8NFD5-4;Q8NFD5;Q8NFD5-2;G3XAA0	.;ARI1B_HUMAN;.;.	V	1090;1077;1130;1072;547;599;552;144	ENSP00000344546:L1090V;ENSP00000055163:L1077V;ENSP00000356116:L1130V;ENSP00000275248:L1072V;ENSP00000412835:L599V;ENSP00000313006:L552V;ENSP00000383596:L144V	ENSP00000275248:L1072V	L	+	1	2	ARID1B	157543927	0.998000	0.40836	0.936000	0.37596	0.743000	0.42351	3.288000	0.51739	1.440000	0.47531	0.650000	0.86243	CTG		0.577	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		7	21	0	0	0	0	7	21				
MUC17	140453	broad.mit.edu	37	7	100677648	100677648	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6433-01A-11D-1683-08	TCGA-CV-6433-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b220fa-a554-43c9-85b0-315331e5ba6e	90358019-128e-4a51-95de-13920ef19ab2	g.chr7:100677648C>A	ENST00000306151.4	+	3	3015	c.2951C>A	c.(2950-2952)cCa>cAa	p.P984Q		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	984	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GGAACGACTCCATTAACAAGC	0.507																																						uc003uxp.1		NA																	0				ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(2950-2952)CCA>CAA		mucin 17 precursor							369.0	333.0	345.0					7																	100677648		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100677648C>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.2951C>A	7.37:g.100677648C>A	ENSP00000302716:p.Pro984Gln					MUC17_uc010lho.1_RNA	p.P984Q	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	3004	+	Lung NSC(181;0.136)|all_lung(186;0.182)		984			Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|14.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.2951C>A	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	c	0.847	-0.739851	0.03088	.	.	ENSG00000169876	ENST00000306151	T	0.03272	3.99	0.632	0.632	0.17705	.	.	.	.	.	T	0.01765	0.0056	N	0.19112	0.55	0.09310	N	1	P	0.42993	0.797	B	0.28709	0.093	T	0.47315	-0.9127	9	0.13853	T	0.58	.	7.1889	0.25814	0.0:0.9999:0.0:1.0E-4	.	984	Q685J3	MUC17_HUMAN	Q	984	ENSP00000302716:P984Q	ENSP00000302716:P984Q	P	+	2	0	MUC17	100464368	0.000000	0.05858	0.002000	0.10522	0.008000	0.06430	-0.506000	0.06359	0.647000	0.30713	0.134000	0.15878	CCA		0.507	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		92	160	1	0	1.01e-35	1.29e-35	92	160				
OR2A14	135941	broad.mit.edu	37	7	143826964	143826964	+	Silent	SNP	C	C	T			TCGA-CV-6433-01A-11D-1683-08	TCGA-CV-6433-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b220fa-a554-43c9-85b0-315331e5ba6e	90358019-128e-4a51-95de-13920ef19ab2	g.chr7:143826964C>T	ENST00000408899.2	+	1	814	c.759C>T	c.(757-759)agC>agT	p.S253S		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	253						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					TCTTTGGCAGCGCCATTGTCA	0.577																																						uc011kua.1		NA																	0					0						c.(757-759)AGC>AGT		olfactory receptor, family 2, subfamily A,							108.0	112.0	111.0					7																	143826964		2013	4204	6217	SO:0001819	synonymous_variant	135941				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143826964C>T		CCDS43672.1	7q35	2013-09-20		2004-03-08	ENSG00000221938	ENSG00000221938		"""GPCR / Class A : Olfactory receptors"""	15084	protein-coding gene	gene with protein product				OR2A14P, OR2A6			Standard	NM_001001659		Approved	OST182	uc011kua.2	Q96R47	OTTHUMG00000158003	ENST00000408899.2:c.759C>T	7.37:g.143826964C>T							p.S253S	NM_001001659	NP_001001659	Q96R47	O2A14_HUMAN			1	759	+	Melanoma(164;0.0783)		253			Helical; Name=6; (Potential).		Q6IF41|Q8NGT8	Silent	SNP	ENST00000408899.2	37	c.759C>T	CCDS43672.1																																																																																				0.577	OR2A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349980.1			4	136	0	0	0	0	4	136				
PDGFRL	5157	broad.mit.edu	37	8	17478590	17478590	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6433-01A-11D-1683-08	TCGA-CV-6433-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b220fa-a554-43c9-85b0-315331e5ba6e	90358019-128e-4a51-95de-13920ef19ab2	g.chr8:17478590G>T	ENST00000541323.1	+	4	829	c.384G>T	c.(382-384)ttG>ttT	p.L128F	PDGFRL_ENST00000251630.6_Missense_Mutation_p.L128F|PDGFRL_ENST00000398074.3_Missense_Mutation_p.L128F	NM_006207.2	NP_006198.1	Q15198	PGFRL_HUMAN	platelet-derived growth factor receptor-like	128	Ig-like C2-type 1.				G-protein coupled receptor signaling pathway (GO:0007186)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)	extracellular region (GO:0005576)	platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	9				Colorectal(111;0.0752)		ACGGCCAGTTGACTCTGGTCA	0.567																																						uc003wxr.2		NA																	0					0						c.(382-384)TTG>TTT		platelet-derived growth factor receptor-like							59.0	57.0	58.0					8																	17478590		2203	4300	6503	SO:0001583	missense	5157					extracellular region	platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity	g.chr8:17478590G>T	D37965	CCDS6003.1	8p22-p21.3	2013-01-29			ENSG00000104213	ENSG00000104213		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8805	protein-coding gene	gene with protein product		604584					Standard	NM_006207		Approved	PRLTS	uc003wxr.3	Q15198	OTTHUMG00000130818	ENST00000541323.1:c.384G>T	8.37:g.17478590G>T	ENSP00000444211:p.Leu128Phe						p.L128F	NM_006207	NP_006198	Q15198	PGFRL_HUMAN		Colorectal(111;0.0752)	3	445	+			128			Ig-like C2-type 1.		A8K085|Q6FH04	Missense_Mutation	SNP	ENST00000541323.1	37	c.384G>T	CCDS6003.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.013187	0.75161	.	.	ENSG00000104213	ENST00000251630;ENST00000541323;ENST00000398074	T;T;T	0.68181	-0.31;-0.31;-0.31	5.37	4.49	0.54785	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.81559	0.4848	M	0.83012	2.62	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	D	0.83792	0.0231	10	0.72032	D	0.01	-13.0342	11.6555	0.51315	0.0687:0.1248:0.8065:0.0	.	128	Q15198	PGFRL_HUMAN	F	128	ENSP00000251630:L128F;ENSP00000444211:L128F;ENSP00000381149:L128F	ENSP00000251630:L128F	L	+	3	2	PDGFRL	17522870	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	2.990000	0.49401	1.396000	0.46663	0.655000	0.94253	TTG		0.567	PDGFRL-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253366.3	NM_006207		13	35	1	0	1.05e-09	1.31e-09	13	35				
POLR3D	661	broad.mit.edu	37	8	22107661	22107661	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6433-01A-11D-1683-08	TCGA-CV-6433-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b220fa-a554-43c9-85b0-315331e5ba6e	90358019-128e-4a51-95de-13920ef19ab2	g.chr8:22107661G>A	ENST00000397802.4	+	7	1210	c.995G>A	c.(994-996)cGc>cAc	p.R332H	POLR3D_ENST00000306433.4_Missense_Mutation_p.R332H			P05423	RPC4_HUMAN	polymerase (RNA) III (DNA directed) polypeptide D, 44kDa	332					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)|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)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	13				Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		CTACTCATCCGCAAGTCTGGA	0.562																																						uc003xbl.2		NA																	0					0						c.(994-996)CGC>CAC		polymerase (RNA) III (DNA directed) polypeptide							86.0	79.0	82.0					8																	22107661		2203	4300	6503	SO:0001583	missense	661				innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity	g.chr8:22107661G>A	M17754	CCDS34858.1	8q21	2013-01-21	2003-04-01	2003-04-04	ENSG00000168495	ENSG00000168495		"""RNA polymerase subunits"""	1080	protein-coding gene	gene with protein product		187280	"""BN51 (BHK21) temperature sensitivity complementing"""	BN51T		12391170, 11279001	Standard	NM_001722		Approved	TSBN51, RPC4	uc003xbl.3	P05423	OTTHUMG00000163778	ENST00000397802.4:c.995G>A	8.37:g.22107661G>A	ENSP00000380904:p.Arg332His					POLR3D_uc003xbm.2_Missense_Mutation_p.R332H|POLR3D_uc011kze.1_RNA	p.R332H	NM_001722	NP_001713	P05423	RPC4_HUMAN		Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)	8	1078	+			332					Q6FI28|Q9BPV7|Q9BPZ1|Q9BXB3	Missense_Mutation	SNP	ENST00000397802.4	37	c.995G>A	CCDS34858.1	.	.	.	.	.	.	.	.	.	.	G	35	5.429909	0.96131	.	.	ENSG00000168495	ENST00000306433;ENST00000397802	.	.	.	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.61615	0.2361	L	0.31420	0.93	0.80722	D	1	D	0.89917	1.0	D	0.69824	0.966	T	0.53697	-0.8402	9	0.05525	T	0.97	-14.5768	17.9601	0.89083	0.0:0.0:1.0:0.0	.	332	P05423	RPC4_HUMAN	H	332	.	ENSP00000303088:R332H	R	+	2	0	POLR3D	22163606	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.824000	0.86668	2.520000	0.84964	0.561000	0.74099	CGC		0.562	POLR3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375434.2	NM_001722		4	56	0	0	0	0	4	56				
CHRNA2	1135	broad.mit.edu	37	8	27327422	27327422	+	Silent	SNP	C	C	T			TCGA-CV-6433-01A-11D-1683-08	TCGA-CV-6433-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b220fa-a554-43c9-85b0-315331e5ba6e	90358019-128e-4a51-95de-13920ef19ab2	g.chr8:27327422C>T	ENST00000520933.2	-	2	303	c.150G>A	c.(148-150)ccG>ccA	p.P50P	CHRNA2_ENST00000407991.1_Silent_p.P50P|CHRNA2_ENST00000240132.2_Silent_p.P50P			Q15822	ACHA2_HUMAN	cholinergic receptor, nicotinic, alpha 2 (neuronal)	50					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transport (GO:0006811)|protein heterooligomerization (GO:0051291)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|drug binding (GO:0008144)			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Mecamylamine(DB00657)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Procaine(DB00721)|Rocuronium(DB00728)|Tubocurarine(DB01199)|Vecuronium(DB01339)	AGCCTCCCTGCGGCAATGCCG	0.637																																						uc010lur.2		NA																	0				ovary(1)	1						c.(148-150)CCG>CCA		cholinergic receptor, nicotinic, alpha	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine(DB01336)|Metocurine Iodide(DB00416)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199)						48.0	53.0	51.0					8																	27327422		2203	4300	6503	SO:0001819	synonymous_variant	1135					cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr8:27327422C>T	U62431	CCDS6059.1, CCDS64856.1	8p21	2012-02-11	2006-02-01		ENSG00000120903	ENSG00000120903		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1956	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 2 (neuronal)"""	118502	"""cholinergic receptor, nicotinic, alpha polypeptide 2 (neuronal)"""			1505988	Standard	NM_000742		Approved		uc010lur.3	Q15822	OTTHUMG00000102083	ENST00000520933.2:c.150G>A	8.37:g.27327422C>T						CHRNA2_uc011lal.1_Silent_p.P50P|CHRNA2_uc010lus.2_5'UTR	p.P50P	NM_000742	NP_000733	Q15822	ACHA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	3	759	-		Ovarian(32;2.61e-05)	50			Extracellular.		A8KAX3|B4DK19|J3KMY9|Q9HAQ3	Silent	SNP	ENST00000520933.2	37	c.150G>A	CCDS6059.1																																																																																				0.637	CHRNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376125.4			5	84	0	0	0	0	5	84				
PPP1R42	286187	broad.mit.edu	37	8	67929968	67929968	+	Silent	SNP	G	G	T			TCGA-CV-6433-01A-11D-1683-08	TCGA-CV-6433-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b220fa-a554-43c9-85b0-315331e5ba6e	90358019-128e-4a51-95de-13920ef19ab2	g.chr8:67929968G>T	ENST00000324682.5	-	2	159	c.15C>A	c.(13-15)acC>acA	p.T5T	PPP1R42_ENST00000522909.1_Silent_p.T5T|PPP1R42_ENST00000517834.1_5'UTR	NM_001013626.2	NP_001013648.1	Q7Z4L9	PPR42_HUMAN	protein phosphatase 1, regulatory subunit 42	5					regulation of phosphatase activity (GO:0010921)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|manchette (GO:0002177)|microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)	actin binding (GO:0003779)|dynein binding (GO:0045502)|tubulin binding (GO:0015631)										TTAGATCCAAGGTCAGTCGAA	0.338																																						uc003xxc.2		NA																	0					0						c.(13-15)ACC>ACA		leucine rich repeat containing 67							72.0	73.0	73.0					8																	67929968		2203	4299	6502	SO:0001819	synonymous_variant	286187							g.chr8:67929968G>T	BC055413	CCDS34902.1	8q13.1-q13.2	2012-04-17	2011-10-11	2011-10-11	ENSG00000178125	ENSG00000178125		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	33732	protein-coding gene	gene with protein product	"""testis leucine-rich repeat"""		"""leucine rich repeat containing 67"""	LRRC67			Standard	NM_001013626		Approved	dtr, TLLR	uc003xxc.3	Q7Z4L9	OTTHUMG00000164745	ENST00000324682.5:c.15C>A	8.37:g.67929968G>T							p.T5T	NM_001013626	NP_001013648	Q7Z4L9	LRC67_HUMAN			2	160	-			5						Silent	SNP	ENST00000324682.5	37	c.15C>A	CCDS34902.1																																																																																				0.338	PPP1R42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380034.2	NM_001013626		14	56	1	0	0.000219431	0.000257527	14	56				
FABP4	2167	broad.mit.edu	37	8	82392828	82392828	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6433-01A-11D-1683-08	TCGA-CV-6433-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b220fa-a554-43c9-85b0-315331e5ba6e	90358019-128e-4a51-95de-13920ef19ab2	g.chr8:82392828C>G	ENST00000256104.4	-	2	174	c.79G>C	c.(79-81)Ggc>Cgc	p.G27R	RP11-157I4.4_ENST00000524085.2_RNA|FABP4_ENST00000518669.1_Intron	NM_001442.2	NP_001433.1	P15090	FABP4_HUMAN	fatty acid binding protein 4, adipocyte	27					brown fat cell differentiation (GO:0050873)|cellular response to lithium ion (GO:0071285)|cholesterol homeostasis (GO:0042632)|cytokine production (GO:0001816)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of inflammatory response (GO:0050729)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lipid particle (GO:0005811)|nucleus (GO:0005634)	fatty acid binding (GO:0005504)|transporter activity (GO:0005215)	p.G27S(1)		breast(2)|central_nervous_system(1)|large_intestine(1)|ovary(1)|skin(1)	6			Epithelial(68;0.213)			GTGGCAAAGCCCACTCCTACA	0.423																																					NSCLC(35;550 1252 19644 48360)	uc003ycd.2		NA																	1	Substitution - Missense(1)		skin(1)	breast(1)	1						c.(79-81)GGC>CGC		fatty acid binding protein 4, adipocyte							66.0	60.0	62.0					8																	82392828		2203	4300	6503	SO:0001583	missense	2167				triglyceride catabolic process	cytoplasm|nucleus|soluble fraction	fatty acid binding|protein binding|transporter activity	g.chr8:82392828C>G	J02874	CCDS6230.1	8q21.13	2013-03-01			ENSG00000170323	ENSG00000170323		"""Fatty acid binding protein family"""	3559	protein-coding gene	gene with protein product		600434				2481498	Standard	NM_001442		Approved	A-FABP, aP2	uc003ycd.2	P15090	OTTHUMG00000164602	ENST00000256104.4:c.79G>C	8.37:g.82392828C>G	ENSP00000256104:p.Gly27Arg						p.G27R	NM_001442	NP_001433	P15090	FABP4_HUMAN	Epithelial(68;0.213)		2	150	-			27			Nuclear localization signal (By similarity).		Q6IBA1	Missense_Mutation	SNP	ENST00000256104.4	37	c.79G>C	CCDS6230.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.136820	0.77662	.	.	ENSG00000170323	ENST00000256104	T	0.09163	3.01	5.25	4.38	0.52667	Calycin-like (1);Cytosolic fatty-acid binding (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.155622	0.56097	D	0.000025	T	0.30039	0.0752	M	0.90369	3.11	0.58432	D	0.999996	P	0.52316	0.952	P	0.51266	0.664	T	0.38628	-0.9652	10	0.87932	D	0	.	13.7148	0.62689	0.0:0.9264:0.0:0.0736	.	27	P15090	FABP4_HUMAN	R	27	ENSP00000256104:G27R	ENSP00000256104:G27R	G	-	1	0	FABP4	82555383	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.960000	0.56752	1.451000	0.47736	0.655000	0.94253	GGC		0.423	FABP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379368.1	NM_001442		3	54	0	0	0	0	3	54				
SYBU	55638	broad.mit.edu	37	8	110587412	110587412	+	Missense_Mutation	SNP	C	C	T	rs200147690	byFrequency	TCGA-CV-6433-01A-11D-1683-08	TCGA-CV-6433-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b220fa-a554-43c9-85b0-315331e5ba6e	90358019-128e-4a51-95de-13920ef19ab2	g.chr8:110587412C>T	ENST00000422135.1	-	8	2230	c.1715G>A	c.(1714-1716)cGc>cAc	p.R572H	SYBU_ENST00000424158.2_Missense_Mutation_p.R577H|SYBU_ENST00000533895.1_Missense_Mutation_p.R571H|SYBU_ENST00000446070.2_Missense_Mutation_p.R571H|SYBU_ENST00000408908.2_Missense_Mutation_p.R572H|SYBU_ENST00000528331.1_Missense_Mutation_p.R453H|SYBU_ENST00000399066.3_Missense_Mutation_p.R569H|SYBU_ENST00000528647.1_Missense_Mutation_p.R571H|SYBU_ENST00000529175.1_Missense_Mutation_p.R366H|SYBU_ENST00000529690.1_Missense_Mutation_p.R442H|SYBU_ENST00000533171.1_Missense_Mutation_p.R572H|SYBU_ENST00000527707.1_5'Flank|SYBU_ENST00000408889.3_Missense_Mutation_p.R453H|SYBU_ENST00000440310.1_Missense_Mutation_p.R572H|SYBU_ENST00000276646.9_Missense_Mutation_p.R572H|SYBU_ENST00000533065.1_Missense_Mutation_p.R453H|SYBU_ENST00000433638.1_Missense_Mutation_p.R572H|SYBU_ENST00000419099.1_Missense_Mutation_p.R571H|SYBU_ENST00000532779.1_Missense_Mutation_p.R504H	NM_001099744.1	NP_001093214.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	572					regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|dense body (GO:0097433)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						TCTCATGAGGCGGTTTGCATG	0.542													C|||	2	0.000399361	0.0	0.0	5008	,	,		20805	0.002		0.0	False		,,,				2504	0.0					uc003ynj.3		NA																	0				ovary(1)	1						c.(1714-1716)CGC>CAC		Golgi-localized syntaphilin-related protein							54.0	56.0	55.0					8																	110587412		1976	4146	6122	SO:0001583	missense	55638					cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane		g.chr8:110587412C>T	AB040905	CCDS43763.1, CCDS43764.1, CCDS47912.1, CCDS55271.1	8q23.2	2010-08-27				ENSG00000147642			26011	protein-coding gene	gene with protein product	"""syntaphilin-like"""	611568				17611281, 16750881, 16157705, 15656992, 15459722	Standard	NM_001099743		Approved	FLJ20366, GOLSYN, KIAA1472, OCSYN, SNPHL	uc003ynj.4	Q9NX95		ENST00000422135.1:c.1715G>A	8.37:g.110587412C>T	ENSP00000407118:p.Arg572His					SYBU_uc003yni.3_Missense_Mutation_p.R569H|SYBU_uc003ynk.3_Missense_Mutation_p.R453H|SYBU_uc010mco.2_Missense_Mutation_p.R571H|SYBU_uc003ynl.3_Missense_Mutation_p.R571H|SYBU_uc010mcp.2_Missense_Mutation_p.R572H|SYBU_uc010mcq.2_Missense_Mutation_p.R572H|SYBU_uc003yno.3_Missense_Mutation_p.R453H|SYBU_uc010mcr.2_Missense_Mutation_p.R572H|SYBU_uc003ynm.3_Missense_Mutation_p.R571H|SYBU_uc003ynn.3_Missense_Mutation_p.R571H|SYBU_uc010mcs.2_Missense_Mutation_p.R453H|SYBU_uc010mct.2_Missense_Mutation_p.R572H|SYBU_uc010mcu.2_Missense_Mutation_p.R571H|SYBU_uc003ynp.3_Missense_Mutation_p.R504H|SYBU_uc010mcv.2_Missense_Mutation_p.R572H|SYBU_uc003ynh.3_Missense_Mutation_p.R366H|SYBU_uc011lhw.1_Missense_Mutation_p.R442H	p.R572H	NM_001099754	NP_001093224	Q9NX95	SYBU_HUMAN			7	1878	-			572					A8K354|B3KQX3|B3KU61|Q5R1T1|Q5R1T2|Q5R1T3|Q5Y2M6|Q8ND49|Q8TCR6|Q96D80|Q9P256	Missense_Mutation	SNP	ENST00000422135.1	37	c.1715G>A	CCDS47912.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	3.463	-0.109482	0.06924	.	.	ENSG00000147642	ENST00000533895;ENST00000424158;ENST00000532779;ENST00000399066;ENST00000446070;ENST00000528331;ENST00000529175;ENST00000276646;ENST00000528647;ENST00000422135;ENST00000419099;ENST00000433638;ENST00000408908;ENST00000440310;ENST00000408889;ENST00000533065;ENST00000529690;ENST00000533171	.	.	.	5.84	2.99	0.34606	.	0.546831	0.21126	N	0.079738	T	0.43656	0.1257	M	0.66939	2.045	0.18873	N	0.999989	B;B;B;B;B	0.18741	0.03;0.017;0.008;0.007;0.017	B;B;B;B;B	0.12156	0.007;0.005;0.004;0.004;0.004	T	0.36553	-0.9743	9	0.44086	T	0.13	-8.5614	9.0505	0.36374	0.0:0.7507:0.0:0.2493	.	442;504;571;572;569	B7Z4D2;Q9NX95-2;Q9NX95-3;Q9NX95;Q9NX95-4	.;.;.;SYBU_HUMAN;.	H	571;577;504;569;571;453;366;572;571;572;571;572;572;572;453;453;442;572	.	ENSP00000276646:R572H	R	-	2	0	SYBU	110656588	0.288000	0.24324	0.843000	0.33291	0.067000	0.16453	0.613000	0.24299	0.330000	0.23485	-0.251000	0.11542	CGC		0.542	SYBU-204	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000385501.1	NM_017786		19	37	0	0	0	0	19	37				
CSMD3	114788	broad.mit.edu	37	8	113933928	113933928	+	Missense_Mutation	SNP	C	C	T	rs140758499		TCGA-CV-6433-01A-11D-1683-08	TCGA-CV-6433-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b220fa-a554-43c9-85b0-315331e5ba6e	90358019-128e-4a51-95de-13920ef19ab2	g.chr8:113933928C>T	ENST00000297405.5	-	10	1805	c.1561G>A	c.(1561-1563)Gca>Aca	p.A521T	CSMD3_ENST00000455883.2_Missense_Mutation_p.A417T|CSMD3_ENST00000352409.3_Missense_Mutation_p.A521T|CSMD3_ENST00000343508.3_Missense_Mutation_p.A481T	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	521	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATGCTCTTTGCGCCCTGTAGG	0.383										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2		NA																	0				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(1561-1563)GCA>ACA		CUB and Sushi multiple domains 3 isoform 1		C	THR/ALA,THR/ALA,THR/ALA	2,4404	4.2+/-10.8	0,2,2201	114.0	108.0	110.0		1249,1561,1441	4.5	1.0	8	dbSNP_134	110	0,8600		0,0,4300	no	missense,missense,missense	CSMD3	NM_052900.2,NM_198123.1,NM_198124.1	58,58,58	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign,benign,benign	417/3539,521/3708,481/3668	113933928	2,13004	2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113933928C>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.1561G>A	8.37:g.113933928C>T	ENSP00000297405:p.Ala521Thr	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003ynt.2_Missense_Mutation_p.A481T|CSMD3_uc011lhx.1_Missense_Mutation_p.A417T	p.A521T	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			10	1720	-			521			Extracellular (Potential).|Sushi 2.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.1561G>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	14.41	2.527038	0.44969	4.54E-4	0.0	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000455883;ENST00000352409	T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05	5.48	4.52	0.55395	Complement control module (2);Sushi/SCR/CCP (3);	0.258964	0.31279	N	0.007936	T	0.56217	0.1970	L	0.37800	1.135	0.20563	N	0.999884	B;B;B	0.31413	0.045;0.322;0.254	B;B;B	0.38106	0.026;0.15;0.265	T	0.49634	-0.8919	10	0.26408	T	0.33	.	15.3869	0.74708	0.1865:0.8135:0.0:0.0	.	417;521;481	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	T	481;521;417;521	ENSP00000345799:A481T;ENSP00000297405:A521T;ENSP00000412263:A417T;ENSP00000343124:A521T	ENSP00000297405:A521T	A	-	1	0	CSMD3	114003104	0.690000	0.27699	0.974000	0.42286	0.976000	0.68499	1.363000	0.34159	2.576000	0.86940	0.655000	0.94253	GCA		0.383	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		33	53	0	0	0	0	33	53				
GPIHBP1	338328	broad.mit.edu	37	8	144295190	144295190	+	Silent	SNP	G	G	T			TCGA-CV-6433-01A-11D-1683-08	TCGA-CV-6433-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b220fa-a554-43c9-85b0-315331e5ba6e	90358019-128e-4a51-95de-13920ef19ab2	g.chr8:144295190G>T	ENST00000330824.2	+	1	123	c.48G>T	c.(46-48)cgG>cgT	p.R16R		NM_178172.3	NP_835466.1	Q8IV16	HDBP1_HUMAN	glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1	16					cholesterol homeostasis (GO:0042632)|intracellular protein transport (GO:0006886)|positive regulation of chylomicron remnant clearance (GO:0090321)|positive regulation of lipoprotein lipase activity (GO:0051006)|protein import (GO:0017038)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|protein transmembrane transport (GO:0071806)|response to heparin (GO:0071503)|transcytosis (GO:0045056)|triglyceride homeostasis (GO:0070328)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|external side of plasma membrane (GO:0009897)|high-density lipoprotein particle (GO:0034364)	chylomicron binding (GO:0035478)|lipase binding (GO:0035473)|lipid binding (GO:0008289)|lipoprotein particle binding (GO:0071813)|protein transmembrane transporter activity (GO:0008320)			lung(2)	2	all_cancers(97;6.49e-11)|all_epithelial(106;2.77e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					TGTGCGGGCGGCCAGGTGCGG	0.672																																						uc003yxu.1		NA																	0					0						c.(46-48)CGG>CGT		glycosylphosphatidylinositol anchored high							22.0	25.0	24.0					8																	144295190		2190	4283	6473	SO:0001819	synonymous_variant	338328				cholesterol homeostasis|intracellular protein transport|positive regulation of chylomicron remnant clearance|positive regulation of lipoprotein lipase activity|protein import|protein localization at cell surface|protein stabilization|response to heparin|triglyceride homeostasis	anchored to external side of plasma membrane|apical plasma membrane|basolateral plasma membrane|high-density lipoprotein particle|integral to membrane|intracellular	apolipoprotein binding|chylomicron binding|lipase binding|lipid binding|protein transmembrane transporter activity	g.chr8:144295190G>T	AF088057	CCDS34954.1	8q24.3	2014-07-14	2008-02-07						24945	protein-coding gene	gene with protein product	"""endothelial cell LPL transporter"""	612757	"""GPI anchored high density lipoprotein binding protein 1"""			12496272, 17883852, 17620854, 17403372	Standard	NM_178172		Approved	LOC338328, GPI-HBP1	uc003yxu.2	Q8IV16		ENST00000330824.2:c.48G>T	8.37:g.144295190G>T							p.R16R	NM_178172	NP_835466	Q8IV16	HDBP1_HUMAN			1	123	+	all_cancers(97;6.49e-11)|all_epithelial(106;2.77e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		16					Q6P3T2|Q86W15	Silent	SNP	ENST00000330824.2	37	c.48G>T	CCDS34954.1																																																																																				0.672	GPIHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381113.1	NM_178172		3	23	1	0	0.00909568	0.00985365	3	23				
ZNF658	26149	broad.mit.edu	37	9	40774007	40774007	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-6433-01A-11D-1683-08	TCGA-CV-6433-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b220fa-a554-43c9-85b0-315331e5ba6e	90358019-128e-4a51-95de-13920ef19ab2	g.chr9:40774007G>T	ENST00000602553.1	-	5	1562	c.1268C>A	c.(1267-1269)tCa>tAa	p.S423*	ZNF658_ENST00000441795.1_Nonsense_Mutation_p.S421*|ZNF658_ENST00000377626.3_Nonsense_Mutation_p.S423*			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	423					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		ATGTGAACTTGAACAAAAGGA	0.398																																						uc004abs.2		NA																	0				ovary(1)	1						c.(1267-1269)TCA>TAA		zinc finger protein 658							100.0	101.0	101.0					9																	40774007		2203	4297	6500	SO:0001587	stop_gained	26149				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:40774007G>T	AA482262	CCDS75846.1	9p13.1	2013-01-08			ENSG00000196409	ENSG00000274349		"""Zinc fingers, C2H2-type"", ""-"""	25226	protein-coding gene	gene with protein product							Standard	NM_033160		Approved	MGC35232, DKFZp572C163, FLJ32813	uc004abs.2	Q5TYW1	OTTHUMG00000013392	ENST00000602553.1:c.1268C>A	9.37:g.40774007G>T	ENSP00000473484:p.Ser423*					ZNF658_uc010mmm.1_Nonsense_Mutation_p.S423*|ZNF658_uc010mmn.1_Nonsense_Mutation_p.S423*	p.S423*	NM_033160	NP_149350	Q5TYW1	ZN658_HUMAN		GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	5	1420	-			423			C2H2-type 4; degenerate.		Q6PIP3|Q96M55|Q9H9S6|Q9UG02	Nonsense_Mutation	SNP	ENST00000602553.1	37	c.1268C>A	CCDS35023.1	.	.	.	.	.	.	.	.	.	.	g	33	5.235969	0.95240	.	.	ENSG00000196409	ENST00000441795;ENST00000377626	.	.	.	1.84	0.867	0.19085	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	.	6.1641	0.20380	0.0:0.0:0.4624:0.5376	.	.	.	.	X	421;423	.	ENSP00000366853:S423X	S	-	2	0	ZNF658	40764007	0.000000	0.05858	0.001000	0.08648	0.509000	0.34042	-0.882000	0.04174	0.327000	0.23409	0.384000	0.25694	TCA		0.398	ZNF658-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467800.1	NM_033160		6	181	1	0	0.00116845	0.00133424	6	181				
ABCA1	19	broad.mit.edu	37	9	107593339	107593339	+	Missense_Mutation	SNP	G	G	A	rs2853574		TCGA-CV-6433-01A-11D-1683-08	TCGA-CV-6433-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b220fa-a554-43c9-85b0-315331e5ba6e	90358019-128e-4a51-95de-13920ef19ab2	g.chr9:107593339G>A	ENST00000374736.3	-	14	2153	c.1759C>T	c.(1759-1761)Cgg>Tgg	p.R587W	ABCA1_ENST00000494467.1_5'Flank	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	587			R -> W (in HDLD1; dbSNP:rs2853574). {ECO:0000269|PubMed:11257260}.		apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	CAGACGTACCGCATGTCCTCA	0.502																																						uc004bcl.2		NA																	0				large_intestine(4)|lung(4)|ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	17	GRCh37	CM993803	ABCA1	M	rs2853574	c.(1759-1761)CGG>TGG		ATP-binding cassette, sub-family A member 1	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						90.0	78.0	82.0					9																	107593339		2203	4300	6503	SO:0001583	missense	19				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding	g.chr9:107593339G>A	AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"""ATP binding cassette transporters / subfamily A"""	29	protein-coding gene	gene with protein product	"""Tangier disease"""	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.1759C>T	9.37:g.107593339G>A	ENSP00000363868:p.Arg587Trp						p.R587W	NM_005502	NP_005493	O95477	ABCA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.023)	14	2072	-			587			Extracellular.		Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Missense_Mutation	SNP	ENST00000374736.3	37	c.1759C>T	CCDS6762.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.759367	0.89932	.	.	ENSG00000165029	ENST00000374736	D	0.97665	-4.48	5.93	5.02	0.67125	.	0.000000	0.85682	D	0.000000	D	0.98557	0.9518	M	0.87097	2.86	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99353	1.0915	10	0.66056	D	0.02	.	16.3651	0.83317	0.0:0.0:0.8671:0.1329	rs2853574	587	O95477	ABCA1_HUMAN	W	587	ENSP00000363868:R587W	ENSP00000363868:R587W	R	-	1	2	ABCA1	106633160	1.000000	0.71417	0.999000	0.59377	0.732000	0.41865	7.973000	0.88032	1.467000	0.48044	0.561000	0.74099	CGG		0.502	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502		4	94	0	0	0	0	4	94				
UAP1L1	91373	broad.mit.edu	37	9	139974547	139974547	+	Silent	SNP	C	C	T	rs368003866		TCGA-CV-6433-01A-11D-1683-08	TCGA-CV-6433-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b220fa-a554-43c9-85b0-315331e5ba6e	90358019-128e-4a51-95de-13920ef19ab2	g.chr9:139974547C>T	ENST00000409858.3	+	6	1163	c.1131C>T	c.(1129-1131)aaC>aaT	p.N377N	UAP1L1_ENST00000360271.3_Silent_p.N254N	NM_207309.2	NP_997192.2	Q3KQV9	UAP1L_HUMAN	UDP-N-acetylglucosamine pyrophosphorylase 1 like 1	377							uridylyltransferase activity (GO:0070569)			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)		TAAAACCGAACGGGATAAAGA	0.473																																						uc010ncb.2		NA																	0				ovary(1)	1						c.(1129-1131)AAC>AAT		UDP-N-acteylglucosamine pyrophosphorylase 1-like		C		1,4403	2.1+/-5.4	0,1,2201	258.0	229.0	239.0		1131	-9.6	0.2	9		239	0,8600		0,0,4300	no	coding-synonymous	UAP1L1	NM_207309.2		0,1,6501	TT,TC,CC		0.0,0.0227,0.0077		377/508	139974547	1,13003	2202	4300	6502	SO:0001819	synonymous_variant	91373						nucleotidyltransferase activity	g.chr9:139974547C>T	AK022632	CCDS7028.2	9q34.3	2014-07-31	2014-07-31		ENSG00000197355	ENSG00000197355			28082	protein-coding gene	gene with protein product							Standard	NM_207309		Approved		uc010ncb.3	Q3KQV9	OTTHUMG00000020962	ENST00000409858.3:c.1131C>T	9.37:g.139974547C>T						UAP1L1_uc004cla.3_Silent_p.N254N	p.N377N	NM_207309	NP_997192	Q3KQV9	UAP1L_HUMAN	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)	6	1163	+	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)	377					A2AMJ8|Q5SPZ2|Q69YQ3|Q6ZR38	Silent	SNP	ENST00000409858.3	37	c.1131C>T	CCDS7028.2																																																																																				0.473	UAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055216.2	XM_038063		51	59	0	0	0	0	51	59				
CXorf22	170063	broad.mit.edu	37	X	35938046	35938046	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6433-01A-11D-1683-08	TCGA-CV-6433-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b220fa-a554-43c9-85b0-315331e5ba6e	90358019-128e-4a51-95de-13920ef19ab2	g.chrX:35938046C>T	ENST00000297866.5	+	1	196	c.130C>T	c.(130-132)Ccg>Tcg	p.P44S		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	44										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						GCGGGTGATCCCGGCTGAGGT	0.562																																						uc004ddj.2		NA																	0				large_intestine(1)|lung(1)|ovary(1)	3						c.(130-132)CCG>TCG		hypothetical protein LOC170063							52.0	43.0	46.0					X																	35938046		2202	4300	6502	SO:0001583	missense	170063							g.chrX:35938046C>T	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.130C>T	X.37:g.35938046C>T	ENSP00000297866:p.Pro44Ser					CXorf22_uc010ngv.2_RNA	p.P44S	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN			1	189	+			44					Q5JRM8|Q8N6X8	Missense_Mutation	SNP	ENST00000297866.5	37	c.130C>T	CCDS14237.2	.	.	.	.	.	.	.	.	.	.	c	11.72	1.723525	0.30593	.	.	ENSG00000165164	ENST00000297866	T	0.70164	-0.46	4.81	3.95	0.45737	.	0.000000	0.85682	D	0.000000	T	0.79197	0.4405	M	0.77103	2.36	0.09310	N	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.69514	-0.5125	10	0.66056	D	0.02	-37.2365	8.7119	0.34389	0.0:0.8902:0.0:0.1098	.	44	Q6ZTR5	CX022_HUMAN	S	44	ENSP00000297866:P44S	ENSP00000297866:P44S	P	+	1	0	CXorf22	35847967	0.047000	0.20315	0.062000	0.19696	0.001000	0.01503	1.171000	0.31896	0.962000	0.38057	-0.272000	0.10252	CCG		0.562	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056216.2	NM_152632		5	5	0	0	0	0	5	5				
TAF1	6872	broad.mit.edu	37	X	70613166	70613166	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6433-01A-11D-1683-08	TCGA-CV-6433-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b220fa-a554-43c9-85b0-315331e5ba6e	90358019-128e-4a51-95de-13920ef19ab2	g.chrX:70613166C>T	ENST00000373790.4	+	21	3115	c.3064C>T	c.(3064-3066)Cgc>Tgc	p.R1022C	TAF1_ENST00000423759.1_Missense_Mutation_p.R1043C|TAF1_ENST00000449580.1_Missense_Mutation_p.R1022C|TAF1_ENST00000276072.3_Missense_Mutation_p.R1043C	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1022					cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.R1022G(1)		breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				AAAGTTGTCCCGCTGGGAAGT	0.443																																						uc004dzu.3		NA																	1	Substitution - Missense(1)		prostate(1)	ovary(7)|breast(4)|large_intestine(2)|central_nervous_system(2)|lung(1)|skin(1)	17						c.(3064-3066)CGC>TGC		TBP-associated factor 1 isoform 2							104.0	96.0	98.0					X																	70613166		2203	4300	6503	SO:0001583	missense	6872				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity	g.chrX:70613166C>T		CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"""Chromatin-modifying enzymes / K-acetyltransferases"""	11535	protein-coding gene	gene with protein product		313650	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD"", ""dystonia 3 (with Parkinsonism)"""	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.3064C>T	X.37:g.70613166C>T	ENSP00000362895:p.Arg1022Cys					BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Missense_Mutation_p.R1043C|TAF1_uc004dzv.3_Missense_Mutation_p.R196C	p.R1022C	NM_138923	NP_620278	P21675	TAF1_HUMAN			21	3115	+	Renal(35;0.156)	all_lung(315;0.000321)	1022					A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	ENST00000373790.4	37	c.3064C>T	CCDS35325.1	.	.	.	.	.	.	.	.	.	.	.	25.5	4.647326	0.87958	.	.	ENSG00000147133	ENST00000373790;ENST00000449580;ENST00000423759;ENST00000276072	T;T;T;T	0.15487	2.42;2.42;2.42;2.42	5.47	5.47	0.80525	Transcription initiation factor TFIID subunit 1, domain of unknown function (1);	0.047041	0.85682	D	0.000000	T	0.51092	0.1654	M	0.88181	2.935	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	T	0.61093	-0.7132	10	0.87932	D	0	.	18.4528	0.90710	0.0:1.0:0.0:0.0	.	1022;1022;1043	P21675-4;P21675;P21675-2	.;TAF1_HUMAN;.	C	1022;1022;1043;1043	ENSP00000362895:R1022C;ENSP00000389000:R1022C;ENSP00000406549:R1043C;ENSP00000276072:R1043C	ENSP00000276072:R1043C	R	+	1	0	TAF1	70529891	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	5.545000	0.67237	2.299000	0.77371	0.600000	0.82982	CGC		0.443	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	NM_004606		24	12	0	0	0	0	24	12				
GPC3	2719	broad.mit.edu	37	X	132826430	132826430	+	Missense_Mutation	SNP	G	G	A	rs377381100		TCGA-CV-6433-01A-11D-1683-08	TCGA-CV-6433-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b220fa-a554-43c9-85b0-315331e5ba6e	90358019-128e-4a51-95de-13920ef19ab2	g.chrX:132826430G>A	ENST00000370818.3	-	5	1704	c.1259C>T	c.(1258-1260)aCc>aTc	p.T420I	GPC3_ENST00000543339.1_Missense_Mutation_p.T366I|GPC3_ENST00000394299.2_Missense_Mutation_p.T443I	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN	glypican 3	420					anatomical structure morphogenesis (GO:0009653)|anterior/posterior axis specification (GO:0009948)|body morphogenesis (GO:0010171)|bone mineralization (GO:0030282)|branching involved in ureteric bud morphogenesis (GO:0001658)|carbohydrate metabolic process (GO:0005975)|cell proliferation involved in metanephros development (GO:0072203)|chondroitin sulfate metabolic process (GO:0030204)|coronary vasculature development (GO:0060976)|embryonic hindlimb morphogenesis (GO:0035116)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lung development (GO:0030324)|mesenchymal cell proliferation involved in ureteric bud development (GO:0072138)|mesonephric duct morphogenesis (GO:0072180)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of growth (GO:0045926)|negative regulation of smoothened signaling pathway (GO:0045879)|osteoclast differentiation (GO:0030316)|phototransduction, visible light (GO:0007603)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of endocytosis (GO:0045807)|positive regulation of glucose import (GO:0046326)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of plasma membrane (GO:0046658)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	peptidyl-dipeptidase inhibitor activity (GO:0060422)			breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					CCAGCAAAGGGTGTCGTTTTC	0.388			"""T, D, Mis, N, F, S"""			Wilms tumour			Simpson-Golabi-Behmel syndrome																													uc004exe.1		NA	yes	Rec/X		Simpson-Golabi-Behmel syndrome	X	Xq26.1	2719	T|D|Mis|N|F|S	glypican 3			O		Wilms tumour			0				lung(2)|prostate(1)|breast(1)|skin(1)	5						c.(1258-1260)ACC>ATC		glypican 3 isoform 2 precursor							100.0	93.0	95.0					X																	132826430		2203	4300	6503	SO:0001583	missense	2719	Simpson-Golabi-Behmel_syndrome	Familial Cancer Database	SGBS		extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity	g.chrX:132826430G>A	L47125	CCDS14638.1, CCDS55496.1	Xq26	2014-09-17			ENSG00000147257	ENSG00000147257		"""Proteoglycans / Cell Surface : Glypicans"""	4451	protein-coding gene	gene with protein product	"""glypican proteoglycan 3"""	300037		SDYS		8589713, 9787072	Standard	NM_004484		Approved	OCI-5, SGBS, SGBS1, SGB, DGSX	uc010nrn.2	P51654	OTTHUMG00000022448	ENST00000370818.3:c.1259C>T	X.37:g.132826430G>A	ENSP00000359854:p.Thr420Ile					GPC3_uc004exd.1_Missense_Mutation_p.T292I|GPC3_uc010nrn.1_Missense_Mutation_p.T443I|GPC3_uc011mvh.1_Missense_Mutation_p.T404I|GPC3_uc010nro.1_Missense_Mutation_p.T366I|GPC3_uc010nrp.1_Missense_Mutation_p.T292I	p.T420I	NM_004484	NP_004475	P51654	GPC3_HUMAN			5	1449	-	Acute lymphoblastic leukemia(192;0.000127)		420					C9JLE3|G3V1R0|Q2L880|Q2L882	Missense_Mutation	SNP	ENST00000370818.3	37	c.1259C>T	CCDS14638.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	14.83|14.83	2.652793|2.652793	0.47362|0.47362	.|.	.|.	ENSG00000147257|ENSG00000147257	ENST00000406757|ENST00000370818;ENST00000394299;ENST00000543339	.|T;T;T	.|0.50548	.|0.74;0.74;0.74	5.07|5.07	5.07|5.07	0.68467|0.68467	.|.	.|0.058393	.|0.64402	.|D	.|0.000001	T|T	0.50274|0.50274	0.1606|0.1606	L|L	0.44542|0.44542	1.39|1.39	0.37628|0.37628	D|D	0.921575|0.921575	.|P;P;P;P	.|0.44241	.|0.829;0.795;0.667;0.829	.|P;B;P;P	.|0.48488	.|0.579;0.343;0.474;0.579	T|T	0.58651|0.58651	-0.7599|-0.7599	5|10	.|0.54805	.|T	.|0.06	.|.	14.8154|14.8154	0.70031|0.70031	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|404;366;443;420	.|B4DTD8;G3V1R0;C9JLE3;P51654	.|.;.;.;GPC3_HUMAN	S|I	150|420;443;366	.|ENSP00000359854:T420I;ENSP00000377836:T443I;ENSP00000444222:T366I	.|ENSP00000359854:T420I	P|T	-|-	1|2	0|0	GPC3|GPC3	132654096|132654096	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	4.646000|4.646000	0.61411|0.61411	2.081000|2.081000	0.62600|0.62600	0.509000|0.509000	0.49947|0.49947	CCC|ACC		0.388	GPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058356.1	NM_004484		25	10	0	0	0	0	25	10				
MAGEC1	9947	broad.mit.edu	37	X	140994302	140994302	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6433-01A-11D-1683-08	TCGA-CV-6433-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b220fa-a554-43c9-85b0-315331e5ba6e	90358019-128e-4a51-95de-13920ef19ab2	g.chrX:140994302C>T	ENST00000285879.4	+	4	1398	c.1112C>T	c.(1111-1113)tCt>tTt	p.S371F	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	371										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TTTCCCCAGTCTCCTCTCCAG	0.478										HNSCC(15;0.026)			-|||	1	0.000264901	0.0	0.0	3775	,	,		13323	0.001		0.0	False		,,,				2504	0.0					uc004fbt.2		NA																	0				ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(1111-1113)TCT>TTT		melanoma antigen family C, 1							106.0	108.0	107.0					X																	140994302		2201	4291	6492	SO:0001583	missense	9947						protein binding	g.chrX:140994302C>T	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.1112C>T	X.37:g.140994302C>T	ENSP00000285879:p.Ser371Phe	HNSCC(15;0.026)				MAGEC1_uc010nsl.1_Intron	p.S371F	NM_005462	NP_005453	O60732	MAGC1_HUMAN			4	1398	+	Acute lymphoblastic leukemia(192;6.56e-05)		371					A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	c.1112C>T	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	c	4.843	0.156793	0.09236	.	.	ENSG00000155495	ENST00000285879	T	0.02236	4.38	.	.	.	.	.	.	.	.	T	0.02047	0.0064	N	0.08118	0	0.29179	N	0.876607	D	0.54964	0.969	P	0.50490	0.642	T	0.49716	-0.8910	8	0.87932	D	0	.	5.9409	0.19192	0.0:0.9994:0.0:6.0E-4	.	371	O60732	MAGC1_HUMAN	F	371	ENSP00000285879:S371F	ENSP00000285879:S371F	S	+	2	0	MAGEC1	140821968	0.000000	0.05858	0.058000	0.19502	0.059000	0.15707	-0.287000	0.08388	0.148000	0.19059	0.150000	0.16122	TCT		0.478	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		22	72	0	0	0	0	22	72				
UNC79	57578	broad.mit.edu	37	14	94046720	94046721	+	Splice_Site	DEL	GT	GT	-			TCGA-CV-6433-01A-11D-1683-08	TCGA-CV-6433-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b220fa-a554-43c9-85b0-315331e5ba6e	90358019-128e-4a51-95de-13920ef19ab2	g.chr14:94046720_94046721delGT	ENST00000393151.2	+	19	2659_2660	c.2659_2660delGT	c.(2659-2661)gtg>g	p.V887fs	UNC79_ENST00000555664.1_Splice_Site_p.V887fs|UNC79_ENST00000553484.1_Splice_Site_p.V887fs|UNC79_ENST00000256339.4_Splice_Site_p.V710fs			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	887					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						AAGCCGGCTGGTGGTAAGCAGT	0.441																																						uc001ybv.1		NA																	0				ovary(10)|skin(4)|large_intestine(3)	17						c.(2128-2130)GTGfs		hypothetical protein LOC57578																																				SO:0001630	splice_region_variant	57578					integral to membrane		g.chr14:94046720_94046721delGT	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.2661+1GT>-	14.37:g.94046720_94046721delGT						KIAA1409_uc001ybs.1_Frame_Shift_Del_p.V710fs	p.V710fs	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN		Epithelial(152;0.188)	16	2211_2212	+		all_cancers(154;0.0354)|all_epithelial(191;0.216)	887					B5MDL6|Q6ZUT7	Frame_Shift_Del	DEL	ENST00000393151.2	37	c.2128_2129delGT																																																																																					0.441	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395	Frame_Shift_Del	13	34	NA	NA	NA	NA	13	34	---	---	---	---
KCNH6	81033	broad.mit.edu	37	17	61601637	61601645	+	In_Frame_Del	DEL	CCCAACACA	CCCAACACA	-	rs143633824		TCGA-CV-6433-01A-11D-1683-08	TCGA-CV-6433-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b220fa-a554-43c9-85b0-315331e5ba6e	90358019-128e-4a51-95de-13920ef19ab2	g.chr17:61601637_61601645delCCCAACACA	ENST00000583023.1	+	2	225_233	c.214_222delCCCAACACA	c.(214-222)cccaacacadel	p.PNT72del	KCNH6_ENST00000581784.1_In_Frame_Del_p.PNT72del|KCNH6_ENST00000580652.1_In_Frame_Del_p.PNT72del|KCNH6_ENST00000456941.2_In_Frame_Del_p.PNT72del|KCNH6_ENST00000314672.5_In_Frame_Del_p.PNT72del	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	72					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	CCTCACAGGCCCCAACACACCAAGCAGCG	0.612																																						uc002jay.2		NA																	0				skin(1)	1						c.(214-222)CCCAACACAdel		potassium voltage-gated channel, subfamily H,	Ibutilide(DB00308)																																			SO:0001651	inframe_deletion	81033				regulation of transcription, DNA-dependent|signal transduction			g.chr17:61601637_61601645delCCCAACACA	AF311913	CCDS11638.1, CCDS11639.1, CCDS62290.1	17q23.3	2012-07-05				ENSG00000173826		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18862	protein-coding gene	gene with protein product		608168				16382104	Standard	NM_030779		Approved	Kv11.2, erg2, HERG2	uc002jay.3	Q9H252		ENST00000583023.1:c.214_222delCCCAACACA	17.37:g.61601637_61601645delCCCAACACA	ENSP00000463533:p.Pro72_Thr74del					KCNH6_uc002jax.1_In_Frame_Del_p.PNT72del|KCNH6_uc010wpl.1_Intron|KCNH6_uc010wpm.1_In_Frame_Del_p.PNT72del|KCNH6_uc002jaz.1_In_Frame_Del_p.PNT72del	p.PNT72del	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN			2	294_302	+			72_74			Cytoplasmic (Potential).		Q9BRD7	In_Frame_Del	DEL	ENST00000583023.1	37	c.214_222delCCCAACACA	CCDS11638.1																																																																																				0.612	KCNH6-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443853.1	NM_030779		24	83	NA	NA	NA	NA	24	83	---	---	---	---
CILP2	148113	broad.mit.edu	37	19	19654650	19654659	+	Frame_Shift_Del	DEL	CGCCAGCTCC	CGCCAGCTCC	-			TCGA-CV-6433-01A-11D-1683-08	TCGA-CV-6433-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b220fa-a554-43c9-85b0-315331e5ba6e	90358019-128e-4a51-95de-13920ef19ab2	g.chr19:19654650_19654659delCGCCAGCTCC	ENST00000291495.5	+	8	1381_1390	c.1296_1305delCGCCAGCTCC	c.(1294-1305)gacgccagctccfs	p.DASS432fs	CILP2_ENST00000586018.1_Frame_Shift_Del_p.DASS438fs	NM_153221.2	NP_694953.2	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	432						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)		p.A433D(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						GCTGCGGGGACGCCAGCTCCCGCTGCTGCT	0.671																																						uc002nmv.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1294-1305)GACGCCAGCTCCfs		cartilage intermediate layer protein 2																																				SO:0001589	frameshift_variant	148113					proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity	g.chr19:19654650_19654659delCGCCAGCTCC	AF542080	CCDS12405.1	19p13.11	2013-01-14				ENSG00000160161		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	24213	protein-coding gene	gene with protein product		612419				12477932	Standard	NM_153221		Approved	MGC45771	uc002nmv.4	Q8IUL8		ENST00000291495.5:c.1296_1305delCGCCAGCTCC	19.37:g.19654650_19654659delCGCCAGCTCC	ENSP00000291495:p.Asp432fs					CILP2_uc002nmw.3_Frame_Shift_Del_p.D438fs	p.D432fs	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN			8	1381_1390	+			432_435					Q6NV88|Q8N4A6|Q8WV21	Frame_Shift_Del	DEL	ENST00000291495.5	37	c.1296_1305delCGCCAGCTCC	CCDS12405.1																																																																																				0.671	CILP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459738.3	NM_153221		32	59	NA	NA	NA	NA	32	59	---	---	---	---
TDRD7	23424	broad.mit.edu	37	9	100222899	100222899	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-6433-01A-11D-1683-08	TCGA-CV-6433-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b220fa-a554-43c9-85b0-315331e5ba6e	90358019-128e-4a51-95de-13920ef19ab2	g.chr9:100222899delA	ENST00000355295.4	+	7	1590	c.1295delA	c.(1294-1296)caafs	p.Q432fs	TDRD7_ENST00000422139.2_Frame_Shift_Del_p.Q358fs	NM_014290.2	NP_055105.2	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	432					germ cell development (GO:0007281)|lens fiber cell differentiation (GO:0070306)|lens morphogenesis in camera-type eye (GO:0002089)|posttranscriptional regulation of gene expression (GO:0010608)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|P granule (GO:0043186)|ribonucleoprotein granule (GO:0035770)	mRNA binding (GO:0003729)			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				ATGGTTGAACAAGAGTATTTG	0.408																																						uc004axj.2		NA																	0				ovary(2)|pancreas(1)	3						c.(1294-1296)CAAfs		tudor domain containing 7							100.0	94.0	96.0					9																	100222899		2203	4300	6503	SO:0001589	frameshift_variant	23424				lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding	g.chr9:100222899delA	AB025254	CCDS6725.1	9q22.33	2013-01-23			ENSG00000196116	ENSG00000196116		"""Tudor domain containing"""	30831	protein-coding gene	gene with protein product		611258				21436445	Standard	NM_014290		Approved	PCTAIRE2BP	uc004axj.3	Q8NHU6	OTTHUMG00000020326	ENST00000355295.4:c.1295delA	9.37:g.100222899delA	ENSP00000347444:p.Gln432fs					TDRD7_uc011lux.1_Frame_Shift_Del_p.Q358fs	p.Q432fs	NM_014290	NP_055105	Q8NHU6	TDRD7_HUMAN			7	1520	+		Acute lymphoblastic leukemia(62;0.158)	432			Lotus/OST-HTH 3.		A6NCI6|B2RBX3|B4DG99|B4DXF7|E7EQD4|Q5VV27|Q96JT1|Q9UFF0|Q9Y2M3	Frame_Shift_Del	DEL	ENST00000355295.4	37	c.1295delA	CCDS6725.1																																																																																				0.408	TDRD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053322.1	NM_014290		27	91	NA	NA	NA	NA	27	91	---	---	---	---
