#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
KLHL17	339451	broad.mit.edu	37	1	898584	898584	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6467-01A-11D-1870-08	TCGA-CR-6467-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2a7f5a16-9330-45a1-9024-1cff1cdb5714	85fe30a5-dc3c-47fc-8e86-33aa839416d4	g.chr1:898584G>T	ENST00000338591.3	+	7	1245	c.1138G>T	c.(1138-1140)Gcc>Tcc	p.A380S		NM_198317.2	NP_938073.1	Q6TDP4	KLH17_HUMAN	kelch-like family member 17	380	Interaction with F-actin. {ECO:0000250}.				actin cytoskeleton organization (GO:0030036)|brain development (GO:0007420)|protein ubiquitination (GO:0016567)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|dendrite cytoplasm (GO:0032839)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	protein complex scaffold (GO:0032947)			central_nervous_system(1)|kidney(2)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CACGCGCCGGGCCCGGGTGGG	0.716																																						uc001aca.1		NA																	0					0						c.(1138-1140)GCC>TCC		kelch-like 17							27.0	33.0	31.0					1																	898584		2187	4290	6477	SO:0001583	missense	339451				actin cytoskeleton organization	actin cytoskeleton|cell junction|postsynaptic density|postsynaptic membrane	protein complex scaffold	g.chr1:898584G>T	AY423763	CCDS30550.1	1p36	2013-01-30	2013-01-30		ENSG00000187961	ENSG00000187961		"""Kelch-like"", ""BTB/POZ domain containing"""	24023	protein-coding gene	gene with protein product	"""actinfilin"""		"""kelch-like 17 (Drosophila)"""			12063253	Standard	NM_198317		Approved		uc001aca.2	Q6TDP4	OTTHUMG00000040721	ENST00000338591.3:c.1138G>T	1.37:g.898584G>T	ENSP00000343930:p.Ala380Ser					KLHL17_uc001acc.1_RNA|KLHL17_uc010nyb.1_Silent_p.G128G	p.A380S	NM_198317	NP_938073	Q6TDP4	KLH17_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	7	1245	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	380			Interaction with F-actin (By similarity).|Kelch 1.		Q5SV94	Missense_Mutation	SNP	ENST00000338591.3	37	c.1138G>T	CCDS30550.1	.	.	.	.	.	.	.	.	.	.	G	13.95	2.388906	0.42308	.	.	ENSG00000187961	ENST00000338591;ENST00000455747;ENST00000540863	T	0.74737	-0.87	5.52	5.52	0.82312	Galactose oxidase, beta-propeller (1);	0.115496	0.64402	D	0.000017	T	0.64659	0.2618	N	0.00690	-1.25	0.80722	D	1	D	0.63046	0.992	D	0.77004	0.989	T	0.73069	-0.4099	10	0.16420	T	0.52	.	19.4354	0.94792	0.0:0.0:1.0:0.0	.	380	Q6TDP4	KLH17_HUMAN	S	380;256;103	ENSP00000343930:A380S	ENSP00000343930:A380S	A	+	1	0	KLHL17	888447	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	9.176000	0.94839	2.608000	0.88229	0.448000	0.29417	GCC		0.716	KLHL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097875.3	NM_198317		4	13	1	0	0.00024832	0.000264201	4	13				
WDTC1	23038	broad.mit.edu	37	1	27632707	27632707	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6467-01A-11D-1870-08	TCGA-CR-6467-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2a7f5a16-9330-45a1-9024-1cff1cdb5714	85fe30a5-dc3c-47fc-8e86-33aa839416d4	g.chr1:27632707G>A	ENST00000319394.3	+	16	2402	c.1867G>A	c.(1867-1869)Gat>Aat	p.D623N	WDTC1_ENST00000361771.3_Missense_Mutation_p.D622N	NM_001276252.1|NM_015023.3	NP_001263181.1|NP_055838.2	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	623					cellular chemical homeostasis (GO:0055082)|cellular response to insulin stimulus (GO:0032869)|glucose metabolic process (GO:0006006)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|regulation of cell size (GO:0008361)	cytosol (GO:0005829)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		AGTCGTGGAAGATATGGAGGG	0.607																																						uc009vst.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1867-1869)GAT>AAT		WD and tetratricopeptide repeats 1							94.0	79.0	84.0					1																	27632707		2203	4300	6503	SO:0001583	missense	23038						protein binding	g.chr1:27632707G>A	AK023778	CCDS296.1, CCDS60044.1	1p35.3	2013-01-11			ENSG00000142784	ENSG00000142784		"""DDB1 and CUL4 associated factors"", ""WD repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29175	protein-coding gene	gene with protein product	"""adipose homolog (Drosophila)"", ""DDB1 and CUL4 associated factor 9"""					12717455, 19238144	Standard	NM_015023		Approved	KIAA1037, ADP, DCAF9	uc009vst.3	Q8N5D0	OTTHUMG00000004273	ENST00000319394.3:c.1867G>A	1.37:g.27632707G>A	ENSP00000317971:p.Asp623Asn					WDTC1_uc001bno.2_Missense_Mutation_p.D622N|WDTC1_uc001bnp.1_RNA|WDTC1_uc001bnq.2_Missense_Mutation_p.D301N	p.D623N	NM_015023	NP_055838	Q8N5D0	WDTC1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)	16	2402	+		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)	623					D3DPL5|Q5SSC5|Q9NV87|Q9UPW4	Missense_Mutation	SNP	ENST00000319394.3	37	c.1867G>A		.	.	.	.	.	.	.	.	.	.	G	18.76	3.692545	0.68271	.	.	ENSG00000142784	ENST00000319394;ENST00000361771	T;T	0.62498	0.02;0.02	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	T	0.47303	0.1438	N	0.17631	0.505	0.80722	D	1	B;B	0.17667	0.023;0.02	B;B	0.20184	0.028;0.016	T	0.37478	-0.9704	10	0.12766	T	0.61	.	17.3843	0.87412	0.0:0.0:1.0:0.0	.	623;622	Q8N5D0;Q8N5D0-4	WDTC1_HUMAN;.	N	623;622	ENSP00000317971:D623N;ENSP00000355317:D622N	ENSP00000317971:D623N	D	+	1	0	WDTC1	27505294	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.208000	0.95075	2.654000	0.90174	0.655000	0.94253	GAT		0.607	WDTC1-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015023		19	36	0	0	0	0	19	36				
KPRP	448834	broad.mit.edu	37	1	152732235	152732235	+	Silent	SNP	C	C	T			TCGA-CR-6467-01A-11D-1870-08	TCGA-CR-6467-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2a7f5a16-9330-45a1-9024-1cff1cdb5714	85fe30a5-dc3c-47fc-8e86-33aa839416d4	g.chr1:152732235C>T	ENST00000606109.1	+	1	199	c.171C>T	c.(169-171)tgC>tgT	p.C57C	KPRP_ENST00000368773.1_Silent_p.C57C			Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	57	Gln-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCAAGTTTGCCAGGTGTCAG	0.547																																						uc001fal.1		NA																	0				ovary(4)|pancreas(1)	5						c.(169-171)TGC>TGT		keratinocyte proline-rich protein							164.0	150.0	154.0					1																	152732235		2203	4300	6503	SO:0001819	synonymous_variant	448834					cytoplasm		g.chr1:152732235C>T	AY960854	CCDS30862.1	1q21.3	2008-02-05	2007-02-02	2006-12-07	ENSG00000203786	ENSG00000203786			31823	protein-coding gene	gene with protein product		613260	"""chromosome 1 open reading frame 45"""	C1orf45		16297201	Standard	NM_001025231		Approved		uc001fal.1	Q5T749	OTTHUMG00000012402	ENST00000606109.1:c.171C>T	1.37:g.152732235C>T							p.C57C	NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	229	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		57			Gln-rich.			Silent	SNP	ENST00000606109.1	37	c.171C>T	CCDS30862.1																																																																																				0.547	KPRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034522.2	NM_001025231		30	79	0	0	0	0	30	79				
MTPAP	55149	broad.mit.edu	37	10	30638194	30638194	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6467-01A-11D-1870-08	TCGA-CR-6467-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2a7f5a16-9330-45a1-9024-1cff1cdb5714	85fe30a5-dc3c-47fc-8e86-33aa839416d4	g.chr10:30638194G>A	ENST00000263063.4	-	1	54	c.11C>T	c.(10-12)cCc>cTc	p.P4L	MTPAP_ENST00000358107.4_Intron|MTPAP_ENST00000488290.1_Intron	NM_018109.3	NP_060579.3	Q9NVV4	PAPD1_HUMAN	mitochondrial poly(A) polymerase	4					cell death (GO:0008219)|histone mRNA catabolic process (GO:0071044)|mRNA polyadenylation (GO:0006378)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|poly(A) RNA binding (GO:0044822)|polynucleotide adenylyltransferase activity (GO:0004652)|protein homodimerization activity (GO:0042803)|UTP binding (GO:0002134)			breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						CCCCACGCCGGGAACCGCCAT	0.567																																						uc001iva.3		NA																	0				ovary(1)	1						c.(10-12)CCC>CTC		PAP associated domain containing 1 precursor							23.0	26.0	25.0					10																	30638194		2202	4300	6502	SO:0001583	missense	55149				cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent	mitochondrion	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity|RNA binding|UTP binding	g.chr10:30638194G>A	AL122121	CCDS7165.1	10p12.1	2014-01-30	2009-01-12	2009-01-12	ENSG00000107951	ENSG00000107951			25532	protein-coding gene	gene with protein product	"""TUTase1"""	613669	"""PAP associated domain containing 1"""	PAPD1		12239557, 15769737, 15547249	Standard	NM_018109		Approved	FLJ10486, mtPAP, SPAX4	uc001iva.4	Q9NVV4	OTTHUMG00000017895	ENST00000263063.4:c.11C>T	10.37:g.30638194G>A	ENSP00000263063:p.Pro4Leu					MTPAP_uc001ivb.3_Intron|MTPAP_uc001ivc.2_Missense_Mutation_p.P4L	p.P4L	NM_018109	NP_060579	Q9NVV4	PAPD1_HUMAN			1	74	-			4					D3DRX0|Q659E3|Q6P7E5|Q9HA74	Missense_Mutation	SNP	ENST00000263063.4	37	c.11C>T	CCDS7165.1	.	.	.	.	.	.	.	.	.	.	.	5.423	0.263281	0.10294	.	.	ENSG00000107951	ENST00000263063	T	0.29655	1.56	4.36	0.24	0.15489	.	.	.	.	.	T	0.13798	0.0334	N	0.16478	0.41	0.18873	N	0.999988	B	0.02656	0.0	B	0.01281	0.0	T	0.30851	-0.9964	9	0.17369	T	0.5	.	2.2897	0.04136	0.3303:0.3944:0.1769:0.0984	.	4	Q9NVV4	PAPD1_HUMAN	L	4	ENSP00000263063:P4L	ENSP00000263063:P4L	P	-	2	0	MTPAP	30678200	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.130000	0.15850	0.049000	0.15920	-0.165000	0.13383	CCC		0.567	MTPAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047426.2	NM_018109		3	31	0	0	0	0	3	31				
TACC2	10579	broad.mit.edu	37	10	123989891	123989891	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6467-01A-11D-1870-08	TCGA-CR-6467-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2a7f5a16-9330-45a1-9024-1cff1cdb5714	85fe30a5-dc3c-47fc-8e86-33aa839416d4	g.chr10:123989891G>A	ENST00000369005.1	+	16	8403	c.8063G>A	c.(8062-8064)cGg>cAg	p.R2688Q	TACC2_ENST00000360561.3_Intron|TACC2_ENST00000334433.3_Missense_Mutation_p.R2688Q|TACC2_ENST00000369000.1_Intron|TACC2_ENST00000453444.2_Intron|TACC2_ENST00000369001.1_Intron|TACC2_ENST00000358010.1_Missense_Mutation_p.R834Q|TACC2_ENST00000260733.3_Missense_Mutation_p.R766Q|TACC2_ENST00000369004.3_Intron|TACC2_ENST00000368999.1_Missense_Mutation_p.R778Q|TACC2_ENST00000515273.1_Intron|TACC2_ENST00000515603.1_Intron|TACC2_ENST00000513429.1_Missense_Mutation_p.R834Q	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2688					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)	p.R2688Q(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GCCATCATGCGGATAGAAGCC	0.567																																						uc001lfv.2		NA																	1	Substitution - Missense(1)		prostate(1)	ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10						c.(8062-8064)CGG>CAG		transforming, acidic coiled-coil containing							139.0	131.0	134.0					10																	123989891		2203	4300	6503	SO:0001583	missense	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123989891G>A	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.8063G>A	10.37:g.123989891G>A	ENSP00000358001:p.Arg2688Gln					TACC2_uc001lfw.2_Missense_Mutation_p.R834Q|TACC2_uc009xzx.2_Intron|TACC2_uc010qtv.1_Intron|TACC2_uc001lfx.2_Intron|TACC2_uc001lfy.2_Intron|TACC2_uc001lfz.2_Missense_Mutation_p.R766Q|TACC2_uc001lga.2_Intron|TACC2_uc009xzy.2_Intron|TACC2_uc001lgb.2_Intron	p.R2688Q	NM_206862	NP_996744	O95359	TACC2_HUMAN			16	8423	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	2688			Potential.		Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	ENST00000369005.1	37	c.8063G>A	CCDS7626.1	.	.	.	.	.	.	.	.	.	.	G	33	5.269867	0.95429	.	.	ENSG00000138162	ENST00000369005;ENST00000513429;ENST00000334433;ENST00000358010;ENST00000368999;ENST00000260733	T;T;T;T;T;T	0.06608	3.72;3.4;3.72;3.4;3.29;3.28	5.92	5.92	0.95590	.	0.000000	0.32204	N	0.006425	T	0.14960	0.0361	N	0.24115	0.695	0.80722	D	1	D;D;D	0.89917	0.997;0.998;1.0	P;P;D	0.75484	0.864;0.864;0.986	T	0.10314	-1.0635	10	0.31617	T	0.26	-20.069	18.5019	0.90884	0.0:0.0:1.0:0.0	.	766;834;2688	O95359-1;O95359-5;O95359	.;.;TACC2_HUMAN	Q	2688;834;2688;834;778;766	ENSP00000358001:R2688Q;ENSP00000425062:R834Q;ENSP00000334280:R2688Q;ENSP00000350701:R834Q;ENSP00000357995:R778Q;ENSP00000260733:R766Q	ENSP00000260733:R766Q	R	+	2	0	TACC2	123979881	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.399000	0.79935	2.804000	0.96469	0.655000	0.94253	CGG		0.567	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			35	93	0	0	0	0	35	93				
ILK	3611	broad.mit.edu	37	11	6630568	6630568	+	Silent	SNP	G	G	A			TCGA-CR-6467-01A-11D-1870-08	TCGA-CR-6467-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2a7f5a16-9330-45a1-9024-1cff1cdb5714	85fe30a5-dc3c-47fc-8e86-33aa839416d4	g.chr11:6630568G>A	ENST00000396751.2	+	7	1113	c.657G>A	c.(655-657)gtG>gtA	p.V219V	ILK_ENST00000528995.1_Silent_p.V158V|ILK_ENST00000537806.1_Silent_p.V85V|RP11-732A19.2_ENST00000527398.1_RNA|ILK_ENST00000526711.1_3'UTR|ILK_ENST00000420936.2_Silent_p.V219V|ILK_ENST00000299421.4_Silent_p.V219V|TAF10_ENST00000531760.1_5'Flank	NM_001014795.1	NP_001014795.1	Q13418	ILK_HUMAN	integrin-linked kinase	219	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell junction assembly (GO:0034329)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|extracellular fibril organization (GO:0043206)|fibroblast migration (GO:0010761)|integrin-mediated signaling pathway (GO:0007229)|myelin assembly (GO:0032288)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|peptidyl-serine phosphorylation (GO:0018105)|platelet aggregation (GO:0070527)|positive regulation of axon extension (GO:0045773)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|substrate adhesion-dependent cell spreading (GO:0034446)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			central_nervous_system(1)	1		Breast(177;7.61e-05)|Medulloblastoma(188;0.00263)|all_neural(188;0.026)|all_lung(207;0.152)		Epithelial(150;5.49e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00012)|Lung(200;0.00942)|LUSC - Lung squamous cell carcinoma(625;0.0163)		ACATTGTCGTGAAGGTGCTGA	0.547																																						uc001mee.2		NA																	0				central_nervous_system(1)	1						c.(655-657)GTG>GTA		integrin-linked kinase							91.0	87.0	88.0					11																	6630568		2201	4296	6497	SO:0001819	synonymous_variant	3611				cell junction assembly|cell proliferation|cell-matrix adhesion|integrin-mediated signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent	cytosol|focal adhesion	ATP binding|protein serine/threonine kinase activity	g.chr11:6630568G>A	U40282	CCDS7768.1, CCDS60712.1, CCDS60713.1	11p15.4	2014-09-17			ENSG00000166333	ENSG00000166333		"""Ankyrin repeat domain containing"""	6040	protein-coding gene	gene with protein product		602366				8538749	Standard	NM_004517		Approved		uc001mef.3	Q13418	OTTHUMG00000133407	ENST00000396751.2:c.657G>A	11.37:g.6630568G>A						ILK_uc001mef.2_Silent_p.V219V|ILK_uc010rap.1_Silent_p.V85V|ILK_uc010raq.1_Silent_p.V158V|ILK_uc001meg.2_Silent_p.V65V|ILK_uc001meh.2_Silent_p.V219V|ILK_uc001mei.2_5'Flank	p.V219V	NM_001014794	NP_001014794	Q13418	ILK_HUMAN		Epithelial(150;5.49e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00012)|Lung(200;0.00942)|LUSC - Lung squamous cell carcinoma(625;0.0163)	8	792	+		Breast(177;7.61e-05)|Medulloblastoma(188;0.00263)|all_neural(188;0.026)|all_lung(207;0.152)	219			Protein kinase.		B7Z1I0|B7Z418|D3DQU0|P57043|Q68DZ3	Silent	SNP	ENST00000396751.2	37	c.657G>A	CCDS7768.1																																																																																				0.547	ILK-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384519.1	NM_004517		24	57	0	0	0	0	24	57				
CKAP5	9793	broad.mit.edu	37	11	46800015	46800015	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6467-01A-11D-1870-08	TCGA-CR-6467-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2a7f5a16-9330-45a1-9024-1cff1cdb5714	85fe30a5-dc3c-47fc-8e86-33aa839416d4	g.chr11:46800015C>G	ENST00000529230.1	-	21	2614	c.2568G>C	c.(2566-2568)gaG>gaC	p.E856D	CKAP5_ENST00000354558.3_Missense_Mutation_p.E856D|CKAP5_ENST00000312055.5_Missense_Mutation_p.E856D|CKAP5_ENST00000415402.1_Missense_Mutation_p.E856D			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	856					centrosome organization (GO:0051297)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|RNA transport (GO:0050658)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|protein complex (GO:0043234)|spindle pole (GO:0000922)				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						CCTACCTGATCTCCGTCCTCG	0.413																																					Ovarian(4;85 273 2202 4844 13323)	uc001ndi.1		NA																	0				ovary(1)|skin(1)	2						c.(2566-2568)GAG>GAC		colonic and hepatic tumor over-expressed protein							219.0	184.0	196.0					11																	46800015		2201	4299	6500	SO:0001583	missense	9793				cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding|protein binding	g.chr11:46800015C>G		CCDS7924.1, CCDS31477.1	11p11.2	2006-09-20			ENSG00000175216	ENSG00000175216			28959	protein-coding gene	gene with protein product		611142				7788527, 8536682	Standard	NM_014756		Approved	ch-TOG, KIAA0097, TOG, TOGp	uc001ndi.2	Q14008	OTTHUMG00000166599	ENST00000529230.1:c.2568G>C	11.37:g.46800015C>G	ENSP00000432768:p.Glu856Asp					CKAP5_uc009ylg.1_Missense_Mutation_p.E742D|CKAP5_uc001ndj.1_Missense_Mutation_p.E856D	p.E856D	NM_001008938	NP_001008938	Q14008	CKAP5_HUMAN			21	2678	-			856			HEAT 5.		Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	Missense_Mutation	SNP	ENST00000529230.1	37	c.2568G>C	CCDS31477.1	.	.	.	.	.	.	.	.	.	.	C	2.549	-0.304517	0.05495	.	.	ENSG00000175216	ENST00000529230;ENST00000415402;ENST00000312055;ENST00000354558	T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13	5.85	0.0669	0.14363	Armadillo-like helical (1);Armadillo-type fold (1);	0.086979	0.85682	D	0.000000	T	0.15089	0.0364	N	0.00104	-2.125	0.39040	D	0.960102	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.09377	0.002;0.002;0.004	T	0.41342	-0.9514	10	0.02654	T	1	-6.9688	6.6082	0.22737	0.1577:0.5154:0.0:0.3269	.	856;856;856	Q14008-3;Q14008-2;Q14008	.;.;CKAP5_HUMAN	D	856	ENSP00000432768:E856D;ENSP00000395302:E856D;ENSP00000310227:E856D;ENSP00000346566:E856D	ENSP00000310227:E856D	E	-	3	2	CKAP5	46756591	0.993000	0.37304	0.998000	0.56505	0.909000	0.53808	0.254000	0.18314	0.036000	0.15547	0.650000	0.86243	GAG		0.413	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390679.1	NM_014756		23	54	0	0	0	0	23	54				
AKAP3	10566	broad.mit.edu	37	12	4735774	4735774	+	Missense_Mutation	SNP	G	G	A	rs199800327	byFrequency	TCGA-CR-6467-01A-11D-1870-08	TCGA-CR-6467-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2a7f5a16-9330-45a1-9024-1cff1cdb5714	85fe30a5-dc3c-47fc-8e86-33aa839416d4	g.chr12:4735774G>A	ENST00000545990.2	-	5	2818	c.2294C>T	c.(2293-2295)aCg>aTg	p.T765M	RP11-500M8.7_ENST00000536588.1_Intron|AKAP3_ENST00000228850.1_Missense_Mutation_p.T765M	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	765					acrosome reaction (GO:0007340)|cellular component movement (GO:0006928)|protein localization (GO:0008104)|single fertilization (GO:0007338)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	acrosomal vesicle (GO:0001669)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	protein kinase A binding (GO:0051018)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						AACTGTGTCCGTTAGGTTGTG	0.488													G|||	2	0.000399361	0.0015	0.0	5008	,	,		20517	0.0		0.0	False		,,,				2504	0.0					uc001qnb.3		NA																	0				skin(3)|large_intestine(1)|ovary(1)|kidney(1)	6						c.(2293-2295)ACG>ATG		A-kinase anchor protein 3							178.0	160.0	166.0					12																	4735774		2203	4300	6503	SO:0001583	missense	10566				acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding	g.chr12:4735774G>A	U85715	CCDS8531.1	12p13.3	2009-03-12				ENSG00000111254		"""A-kinase anchor proteins"""	373	protein-coding gene	gene with protein product	"""Fibrous Sheath Protein of 95 kDa"", ""cancer/testis antigen 82"""	604689				10334916, 10319321	Standard	NM_001278309		Approved	FSP95, SOB1, AKAP110, CT82	uc001qnb.4	O75969		ENST00000545990.2:c.2294C>T	12.37:g.4735774G>A	ENSP00000440994:p.Thr765Met						p.T765M	NM_006422	NP_006413	O75969	AKAP3_HUMAN			4	2523	-			765					O75945|Q86X01|Q9UM61	Missense_Mutation	SNP	ENST00000545990.2	37	c.2294C>T	CCDS8531.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	2.110	-0.403921	0.04832	.	.	ENSG00000111254	ENST00000228850;ENST00000545990	T;T	0.10288	2.89;2.89	4.91	-0.118	0.13547	A-kinase anchor 110kDa, C-terminal (1);	0.774326	0.11975	N	0.511336	T	0.10809	0.0264	M	0.62723	1.935	0.09310	N	1	B	0.26809	0.16	B	0.19946	0.027	T	0.23655	-1.0182	10	0.72032	D	0.01	-0.791	5.4882	0.16761	0.234:0.288:0.478:0.0	.	765	O75969	AKAP3_HUMAN	M	765	ENSP00000228850:T765M;ENSP00000440994:T765M	ENSP00000228850:T765M	T	-	2	0	AKAP3	4606035	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.375000	0.20518	-0.208000	0.10171	-0.794000	0.03295	ACG		0.488	AKAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398911.2	NM_006422		30	126	0	0	0	0	30	126				
KRT6B	3854	broad.mit.edu	37	12	52843354	52843354	+	Missense_Mutation	SNP	G	G	A	rs190319305		TCGA-CR-6467-01A-11D-1870-08	TCGA-CR-6467-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2a7f5a16-9330-45a1-9024-1cff1cdb5714	85fe30a5-dc3c-47fc-8e86-33aa839416d4	g.chr12:52843354G>A	ENST00000252252.3	-	5	1023	c.976C>T	c.(976-978)Cgc>Tgc	p.R326C		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	326	Linker 12.|Rod.				ectoderm development (GO:0007398)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		TCCAGGTTGCGGTTGTTGTCC	0.527													G|||	1	0.000199681	0.0	0.0	5008	,	,		23989	0.001		0.0	False		,,,				2504	0.0					uc001sak.2		NA																	0				ovary(2)	2						c.(976-978)CGC>TGC		keratin 6B							167.0	147.0	154.0					12																	52843354		2203	4297	6500	SO:0001583	missense	3854				ectoderm development	keratin filament	structural constituent of cytoskeleton	g.chr12:52843354G>A	BC034535	CCDS8828.1	12q13.13	2013-01-16	2004-08-11		ENSG00000185479	ENSG00000185479		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6444	protein-coding gene	gene with protein product		148042	"""keratin-like 1 (a type II keratin sequence)"""	KRTL1		1713141, 16831889	Standard	NM_005555		Approved		uc001sak.3	P04259	OTTHUMG00000169593	ENST00000252252.3:c.976C>T	12.37:g.52843354G>A	ENSP00000252252:p.Arg326Cys						p.R326C	NM_005555	NP_005546	P04259	K2C6B_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.083)	5	1024	-			326			Rod.|Linker 12.		P48669	Missense_Mutation	SNP	ENST00000252252.3	37	c.976C>T	CCDS8828.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	19.65	3.867777	0.72065	.	.	ENSG00000185479	ENST00000252252;ENST00000544607	D	0.92911	-3.13	3.05	3.05	0.35203	Filament (1);	0.000000	0.64402	D	0.000014	D	0.95695	0.8600	M	0.91872	3.25	0.58432	D	0.999993	D	0.61080	0.989	P	0.61533	0.89	D	0.95723	0.8768	10	0.72032	D	0.01	.	10.7722	0.46330	0.0:0.0:0.8097:0.1903	.	326	P04259	K2C6B_HUMAN	C	326;286	ENSP00000252252:R326C	ENSP00000252252:R326C	R	-	1	0	KRT6B	51129621	1.000000	0.71417	0.907000	0.35723	0.813000	0.45954	9.426000	0.97469	2.042000	0.60477	0.298000	0.19748	CGC		0.527	KRT6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404969.1	NM_005555		4	220	0	0	0	0	4	220				
PCDH8	5100	broad.mit.edu	37	13	53420242	53420242	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6467-01A-11D-1870-08	TCGA-CR-6467-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2a7f5a16-9330-45a1-9024-1cff1cdb5714	85fe30a5-dc3c-47fc-8e86-33aa839416d4	g.chr13:53420242C>T	ENST00000377942.3	-	1	2533	c.2330G>A	c.(2329-2331)cGc>cAc	p.R777H	PCDH8_ENST00000338862.4_Missense_Mutation_p.R777H	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	777					cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|morphogenesis of embryonic epithelium (GO:0016331)|somitogenesis (GO:0001756)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		CTCCTTCTTGCGGCGGTTGCA	0.741																																					GBM(36;25 841 9273 49207)	uc001vhi.2		NA																	0				breast(1)	1						c.(2329-2331)CGC>CAC		protocadherin 8 isoform 1 precursor							22.0	30.0	27.0					13																	53420242		1901	3839	5740	SO:0001583	missense	5100				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding	g.chr13:53420242C>T	AF061573	CCDS9438.1, CCDS9439.1	13q21.1	2010-02-22			ENSG00000136099	ENSG00000136099		"""Cadherins / Protocadherins : Non-clustered"""	8660	protein-coding gene	gene with protein product		603580				9787079, 9315676	Standard	NM_002590		Approved	PAPC, ARCADLIN	uc001vhi.3	O95206	OTTHUMG00000016979	ENST00000377942.3:c.2330G>A	13.37:g.53420242C>T	ENSP00000367177:p.Arg777His					PCDH8_uc001vhj.2_Missense_Mutation_p.R777H	p.R777H	NM_002590	NP_002581	O95206	PCDH8_HUMAN		GBM - Glioblastoma multiforme(99;2.19e-08)	1	2533	-		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	777			Cytoplasmic (Potential).		B4DMV7|Q5TAN1|Q5TAN2|Q8IYE9|Q96SF1	Missense_Mutation	SNP	ENST00000377942.3	37	c.2330G>A	CCDS9438.1	.	.	.	.	.	.	.	.	.	.	C	32	5.176536	0.94846	.	.	ENSG00000136099	ENST00000377942;ENST00000338862;ENST00000418407;ENST00000448969	T;T	0.53640	0.61;0.64	4.95	4.1	0.47936	.	0.000000	0.44902	D	0.000406	T	0.54983	0.1892	L	0.32530	0.975	0.52501	D	0.999953	D;D	0.89917	1.0;1.0	D;D	0.78314	0.966;0.991	T	0.53027	-0.8496	10	0.40728	T	0.16	.	12.6808	0.56920	0.0:0.92:0.0:0.08	.	777;777	O95206-2;O95206	.;PCDH8_HUMAN	H	777;777;303;620	ENSP00000367177:R777H;ENSP00000341350:R777H	ENSP00000341350:R777H	R	-	2	0	PCDH8	52318243	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.766000	0.55280	2.281000	0.76405	0.655000	0.94253	CGC		0.741	PCDH8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045108.2	NM_002590		15	17	0	0	0	0	15	17				
GPC5	2262	broad.mit.edu	37	13	92345950	92345950	+	Nonsense_Mutation	SNP	C	C	T	rs184809659		TCGA-CR-6467-01A-11D-1870-08	TCGA-CR-6467-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2a7f5a16-9330-45a1-9024-1cff1cdb5714	85fe30a5-dc3c-47fc-8e86-33aa839416d4	g.chr13:92345950C>T	ENST00000377067.3	+	3	1207	c.835C>T	c.(835-837)Cga>Tga	p.R279*		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	279					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				CAATGTCATGCGAGGCTGCCT	0.542													C|||	1	0.000199681	0.0	0.0	5008	,	,		20069	0.001		0.0	False		,,,				2504	0.0					uc010tif.1		NA																	0				ovary(2)|skin(2)|upper_aerodigestive_tract(1)	5						c.(835-837)CGA>TGA		glypican 5 precursor							105.0	93.0	97.0					13																	92345950		2203	4300	6503	SO:0001587	stop_gained	2262					anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chr13:92345950C>T	AF001462	CCDS9468.1	13q32	2011-08-01			ENSG00000179399	ENSG00000179399		"""Proteoglycans / Cell Surface : Glypicans"""	4453	protein-coding gene	gene with protein product	"""glypican proteoglycan 5"""	602446				9070915, 20304703, 19556317, 15057823	Standard	NM_004466		Approved		uc010tif.2	P78333	OTTHUMG00000017200	ENST00000377067.3:c.835C>T	13.37:g.92345950C>T	ENSP00000366267:p.Arg279*						p.R279*	NM_004466	NP_004457	P78333	GPC5_HUMAN			3	1201	+	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)	279					B2R726|O60436|Q9BX27	Nonsense_Mutation	SNP	ENST00000377067.3	37	c.835C>T	CCDS9468.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	38	7.067226	0.98040	.	.	ENSG00000179399	ENST00000377067	.	.	.	5.39	2.91	0.33838	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.7704	13.2438	0.60012	0.4158:0.5842:0.0:0.0	.	.	.	.	X	279	.	ENSP00000366267:R279X	R	+	1	2	GPC5	91143951	0.876000	0.30132	0.466000	0.27168	0.340000	0.28889	1.414000	0.34736	0.345000	0.23873	-0.271000	0.10264	CGA		0.542	GPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045454.1	NM_004466		22	27	0	0	0	0	22	27				
FSCB	84075	broad.mit.edu	37	14	44974032	44974032	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6467-01A-11D-1870-08	TCGA-CR-6467-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2a7f5a16-9330-45a1-9024-1cff1cdb5714	85fe30a5-dc3c-47fc-8e86-33aa839416d4	g.chr14:44974032G>A	ENST00000340446.4	-	1	2450	c.2159C>T	c.(2158-2160)cCa>cTa	p.P720L	RP11-163M18.1_ENST00000555433.1_RNA|RP11-163M18.1_ENST00000557465.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	720						sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		CAAATCAGCTGGTGGGGAATG	0.522																																						uc001wvn.2		NA																	0				lung(3)|breast(3)|ovary(2)|central_nervous_system(1)	9						c.(2158-2160)CCA>CTA		fibrous sheath CABYR binding protein							44.0	48.0	47.0					14																	44974032		2203	4300	6503	SO:0001583	missense	84075					cilium		g.chr14:44974032G>A	AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"""chromosome 14 open reading frame 155"""	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.2159C>T	14.37:g.44974032G>A	ENSP00000344579:p.Pro720Leu						p.P720L	NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN		GBM - Glioblastoma multiforme(112;0.128)	1	2468	-			720					Q5H9U7|Q86YI2|Q9H0J3	Missense_Mutation	SNP	ENST00000340446.4	37	c.2159C>T	CCDS9679.1	.	.	.	.	.	.	.	.	.	.	G	11.99	1.803695	0.31869	.	.	ENSG00000189139	ENST00000340446;ENST00000537803	T	0.12361	2.69	4.45	-6.47	0.01902	.	.	.	.	.	T	0.04861	0.0131	N	0.12471	0.22	0.09310	N	1	B	0.16603	0.018	B	0.18871	0.023	T	0.42189	-0.9466	9	0.09590	T	0.72	2.7342	4.66	0.12637	0.3685:0.0:0.2244:0.4072	.	720	Q5H9T9	FSCB_HUMAN	L	720;613	ENSP00000344579:P720L	ENSP00000344579:P720L	P	-	2	0	FSCB	44043782	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.658000	0.00852	-1.682000	0.01446	-0.266000	0.10368	CCA		0.522	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1	NM_032135		11	30	0	0	0	0	11	30				
RPL4	6124	broad.mit.edu	37	15	66795855	66795855	+	Missense_Mutation	SNP	G	G	A	rs142487012		TCGA-CR-6467-01A-11D-1870-08	TCGA-CR-6467-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2a7f5a16-9330-45a1-9024-1cff1cdb5714	85fe30a5-dc3c-47fc-8e86-33aa839416d4	g.chr15:66795855G>A	ENST00000307961.6	-	2	108	c.16C>T	c.(16-18)Cca>Tca	p.P6S	ZWILCH_ENST00000446801.2_5'Flank|ZWILCH_ENST00000307897.5_5'Flank|ZWILCH_ENST00000565627.1_5'Flank|RPL4_ENST00000564517.1_5'Flank|RPL4_ENST00000568588.1_5'UTR|SNORD18A_ENST00000363753.1_RNA|SNORD18C_ENST00000362704.1_RNA|SNORD18B_ENST00000365659.1_RNA|ZWILCH_ENST00000535141.2_5'Flank|SNORD16_ENST00000362803.1_RNA	NM_000968.3	NP_000959.2	P36578	RL4_HUMAN	ribosomal protein L4	6					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)|urinary_tract(1)	17						GATATCAGTGGGCGAGCACAC	0.403																																						uc002apv.2		NA																	0					0						c.(16-18)CCA>TCA		ribosomal protein L4							44.0	42.0	43.0					15																	66795855		2201	4299	6500	SO:0001583	missense	6124				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome	g.chr15:66795855G>A	AB007167	CCDS10218.1	15q22	2011-04-06			ENSG00000174444	ENSG00000174444		"""L ribosomal proteins"""	10353	protein-coding gene	gene with protein product	"""60S ribosomal protein L4"""	180479				9582194, 8268230	Standard	NM_000968		Approved	L4	uc002apv.3	P36578	OTTHUMG00000133193	ENST00000307961.6:c.16C>T	15.37:g.66795855G>A	ENSP00000311430:p.Pro6Ser					RPL4_uc010bhr.2_5'UTR|RPL4_uc002apw.2_5'UTR|RPL4_uc002apx.2_5'UTR|RPL4_uc010ujq.1_Missense_Mutation_p.P6S|SNORD18C_uc010bhs.1_5'Flank|SNORD18B_uc002apy.1_5'Flank|SNORD16_uc010bht.2_5'Flank|SNORD18A_uc002apz.1_5'Flank|ZWILCH_uc010bhu.1_5'Flank|ZWILCH_uc002aqb.2_5'Flank|ZWILCH_uc002aqa.2_5'Flank|ZWILCH_uc010bhv.2_5'Flank	p.P6S	NM_000968	NP_000959	P36578	RL4_HUMAN			2	72	-			6					A8K502|P39029|Q4VBR0|Q969Z9	Missense_Mutation	SNP	ENST00000307961.6	37	c.16C>T	CCDS10218.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.149720	0.78001	.	.	ENSG00000174444	ENST00000307961;ENST00000449253;ENST00000432669	.	.	.	4.4	4.4	0.53042	Ribosomal protein L4 domain (1);	0.000000	0.85682	D	0.000000	D	0.87931	0.6302	H	0.96662	3.86	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.92435	0.5957	9	0.87932	D	0	-11.7757	17.1809	0.86855	0.0:0.0:1.0:0.0	.	6;6	B4DFI6;P36578	.;RL4_HUMAN	S	6	.	ENSP00000311430:P6S	P	-	1	0	RPL4	64582909	1.000000	0.71417	1.000000	0.80357	0.605000	0.37080	9.510000	0.98004	2.276000	0.75962	0.561000	0.74099	CCA		0.403	RPL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256903.2	NM_000968		26	11	0	0	0	0	26	11				
XYLT1	64131	broad.mit.edu	37	16	17202658	17202658	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6467-01A-11D-1870-08	TCGA-CR-6467-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2a7f5a16-9330-45a1-9024-1cff1cdb5714	85fe30a5-dc3c-47fc-8e86-33aa839416d4	g.chr16:17202658G>C	ENST00000261381.6	-	12	2858	c.2774C>G	c.(2773-2775)aCa>aGa	p.T925R		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	925					cellular response to heat (GO:0034605)|chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CGGGCAGGCTGTGGGGCCCGT	0.677																																						uc002dfa.2		NA																	0				ovary(4)	4						c.(2773-2775)ACA>AGA		xylosyltransferase I							41.0	36.0	38.0					16																	17202658		2197	4299	6496	SO:0001583	missense	64131				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	g.chr16:17202658G>C	AJ277441	CCDS10569.1	16p12	2013-02-25			ENSG00000103489	ENSG00000103489	2.4.2.26	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	15516	protein-coding gene	gene with protein product	"""protein xylosyltransferase 1"""	608124				11099377	Standard	NM_022166		Approved	XT-I, PXYLT1	uc002dfa.3	Q86Y38	OTTHUMG00000129975	ENST00000261381.6:c.2774C>G	16.37:g.17202658G>C	ENSP00000261381:p.Thr925Arg						p.T925R	NM_022166	NP_071449	Q86Y38	XYLT1_HUMAN			12	2859	-			925			Lumenal (Potential).		Q9H1B6	Missense_Mutation	SNP	ENST00000261381.6	37	c.2774C>G	CCDS10569.1	.	.	.	.	.	.	.	.	.	.	G	9.071	0.996940	0.19043	.	.	ENSG00000103489	ENST00000261381	T	0.04234	3.67	5.7	2.56	0.30785	.	0.360310	0.34879	N	0.003603	T	0.07548	0.0190	L	0.43923	1.385	0.44129	D	0.996919	P	0.52577	0.954	P	0.45377	0.478	T	0.13629	-1.0502	10	0.44086	T	0.13	-27.8938	16.2461	0.82446	0.0:0.3415:0.6585:0.0	.	925	Q86Y38	XYLT1_HUMAN	R	925	ENSP00000261381:T925R	ENSP00000261381:T925R	T	-	2	0	XYLT1	17110159	0.980000	0.34600	0.086000	0.20670	0.065000	0.16274	1.828000	0.39111	0.297000	0.22615	0.655000	0.94253	ACA		0.677	XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252241.2	NM_022166		9	19	0	0	0	0	9	19				
GLOD4	51031	broad.mit.edu	37	17	685428	685428	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-6467-01A-11D-1870-08	TCGA-CR-6467-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2a7f5a16-9330-45a1-9024-1cff1cdb5714	85fe30a5-dc3c-47fc-8e86-33aa839416d4	g.chr17:685428T>C	ENST00000301328.5	-	1	91	c.68A>G	c.(67-69)tAt>tGt	p.Y23C	GLOD4_ENST00000536578.1_5'UTR|GLOD4_ENST00000301329.6_Missense_Mutation_p.Y23C|RNMTL1_ENST00000304478.4_5'Flank			Q9HC38	GLOD4_HUMAN	glyoxalase domain containing 4	23						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)				endometrium(1)|large_intestine(1)|prostate(1)	3				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		GACGTCCCGATAGAAACGCGC	0.692																																						uc002frv.2		NA																	0					0						c.(67-69)TAT>TGT		glyoxalase domain containing 4							22.0	24.0	24.0					17																	685428		2203	4299	6502	SO:0001583	missense	51031					mitochondrion		g.chr17:685428T>C	AF177342	CCDS32520.1	17p13.3	2008-02-05	2007-03-14	2007-03-14		ENSG00000167699			14111	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 25"""	C17orf25		11642406, 12528892	Standard	NM_016080		Approved	CGI-150, HC71	uc002fru.3	Q9HC38		ENST00000301328.5:c.68A>G	17.37:g.685428T>C	ENSP00000301328:p.Tyr23Cys					GLOD4_uc002fru.2_Missense_Mutation_p.Y23C|GLOD4_uc010vqc.1_5'UTR|RNMTL1_uc002frw.2_5'Flank	p.Y23C	NM_016080	NP_057164	Q9HC38	GLOD4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)	1	144	-			23					D3DTG9|D3DTH1|Q96B89|Q9H3J8|Q9HC37|Q9NVN1	Missense_Mutation	SNP	ENST00000301328.5	37	c.68A>G		.	.	.	.	.	.	.	.	.	.	T	22.8	4.338265	0.81911	.	.	ENSG00000167699	ENST00000301329;ENST00000397393;ENST00000301328	T;T	0.78003	-1.14;-1.14	5.04	1.42	0.22433	.	0.335375	0.32518	N	0.005985	D	0.87755	0.6257	M	0.91663	3.23	0.80722	D	1	D;D	0.67145	0.996;0.993	P;D	0.66847	0.886;0.947	D	0.86279	0.1666	10	0.62326	D	0.03	-6.3003	9.583	0.39499	0.4909:0.0:0.0:0.509	.	23;23	Q9HC38;Q9HC38-2	GLOD4_HUMAN;.	C	23;226;23	ENSP00000301329:Y23C;ENSP00000301328:Y23C	ENSP00000301328:Y23C	Y	-	2	0	GLOD4	632178	1.000000	0.71417	0.988000	0.46212	0.953000	0.61014	2.710000	0.47169	-0.003000	0.14444	0.460000	0.39030	TAT		0.692	GLOD4-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000437190.1	NM_016080		13	32	0	0	0	0	13	32				
DNAH2	146754	broad.mit.edu	37	17	7668743	7668743	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-6467-01A-11D-1870-08	TCGA-CR-6467-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2a7f5a16-9330-45a1-9024-1cff1cdb5714	85fe30a5-dc3c-47fc-8e86-33aa839416d4	g.chr17:7668743G>A	ENST00000572933.1	+	21	4831	c.3371G>A	c.(3370-3372)tGg>tAg	p.W1124*	DNAH2_ENST00000389173.2_Nonsense_Mutation_p.W1124*			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1124	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AACGGGGAGTGGGTTGTCTTC	0.537																																						uc002giu.1		NA																	0				ovary(6)|skin(6)|central_nervous_system(1)	13						c.(3370-3372)TGG>TAG		dynein heavy chain domain 3							106.0	96.0	100.0					17																	7668743		2203	4300	6503	SO:0001587	stop_gained	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7668743G>A	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.3371G>A	17.37:g.7668743G>A	ENSP00000458355:p.Trp1124*						p.W1124*	NM_020877	NP_065928	Q9P225	DYH2_HUMAN			20	3385	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	1124			Stem (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Nonsense_Mutation	SNP	ENST00000572933.1	37	c.3371G>A	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	G	39	7.709988	0.98447	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	.	.	.	4.57	4.57	0.56435	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.1125	0.81273	0.0:0.0:1.0:0.0	.	.	.	.	X	1124	.	ENSP00000353818:W1124X	W	+	2	0	DNAH2	7609468	1.000000	0.71417	0.977000	0.42913	0.237000	0.25408	8.199000	0.89731	2.090000	0.63153	0.561000	0.74099	TGG		0.537	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		28	74	0	0	0	0	28	74				
DHX58	79132	broad.mit.edu	37	17	40253880	40253880	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6467-01A-11D-1870-08	TCGA-CR-6467-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2a7f5a16-9330-45a1-9024-1cff1cdb5714	85fe30a5-dc3c-47fc-8e86-33aa839416d4	g.chr17:40253880G>A	ENST00000251642.3	-	14	2158	c.1936C>T	c.(1936-1938)Cgg>Tgg	p.R646W		NM_024119.2	NP_077024.2	Q96C10	DHX58_HUMAN	DEXH (Asp-Glu-X-His) box polypeptide 58	646	RNA-binding.|Repressor domain.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of innate immune response (GO:0045824)|negative regulation of MDA-5 signaling pathway (GO:0039534)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|positive regulation of type I interferon production (GO:0032481)|regulation of innate immune response (GO:0045088)|response to virus (GO:0009615)|viral process (GO:0016032)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GCCTGGATCCGCCCCTGAGGG	0.587											OREG0024418	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002hyw.3		NA																	0					0						c.(1936-1938)CGG>TGG		RNA helicase LGP2							55.0	53.0	54.0					17																	40253880		2203	4300	6503	SO:0001583	missense	79132				innate immune response	cytoplasm	ATP binding|DNA binding|helicase activity|protein binding|RNA binding|zinc ion binding	g.chr17:40253880G>A	BC014949	CCDS11416.1	17q21.2	2008-02-05			ENSG00000108771	ENSG00000108771			29517	protein-coding gene	gene with protein product	"""RNA helicase LGP2"""	608588				11735219	Standard	NM_024119		Approved	LGP2, D11LGP2	uc002hyw.3	Q96C10	OTTHUMG00000133493	ENST00000251642.3:c.1936C>T	17.37:g.40253880G>A	ENSP00000251642:p.Arg646Trp		OREG0024418	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	892	DHX58_uc002hyv.3_RNA	p.R646W	NM_024119	NP_077024	Q96C10	DHX58_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	14	2159	-		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)	646			RNA-binding.		Q9HAM6	Missense_Mutation	SNP	ENST00000251642.3	37	c.1936C>T	CCDS11416.1	.	.	.	.	.	.	.	.	.	.	G	18.42	3.619826	0.66787	.	.	ENSG00000108771	ENST00000251642	T	0.47869	0.83	5.15	3.07	0.35406	C-terminal domain of RIG-I (1);	0.097209	0.39083	N	0.001477	T	0.44414	0.1292	M	0.71581	2.175	0.09310	N	1	P	0.51147	0.942	B	0.37989	0.262	T	0.45454	-0.9260	10	0.87932	D	0	.	12.5588	0.56269	0.0:0.0:0.4039:0.5961	.	646	Q96C10	DHX58_HUMAN	W	646	ENSP00000251642:R646W	ENSP00000251642:R646W	R	-	1	2	DHX58	37507406	0.014000	0.17966	0.559000	0.28332	0.921000	0.55340	0.864000	0.27926	0.502000	0.28037	0.561000	0.74099	CGG		0.587	DHX58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257396.1	NM_024119		15	68	0	0	0	0	15	68				
SPOP	8405	broad.mit.edu	37	17	47688665	47688665	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-6467-01A-11D-1870-08	TCGA-CR-6467-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2a7f5a16-9330-45a1-9024-1cff1cdb5714	85fe30a5-dc3c-47fc-8e86-33aa839416d4	g.chr17:47688665T>C	ENST00000393328.2	-	7	1000	c.635A>G	c.(634-636)cAg>cGg	p.Q212R	SPOP_ENST00000503676.1_Missense_Mutation_p.Q212R|SPOP_ENST00000393331.3_Missense_Mutation_p.Q212R|SPOP_ENST00000347630.2_Missense_Mutation_p.Q212R|SPOP_ENST00000504102.1_Missense_Mutation_p.Q212R	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	212	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.|Important for homodimerization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)			endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						CTTGTGAGCCTGGAATTCCTG	0.448										Prostate(2;0.17)																												uc010dbk.2		NA																	0				prostate(2)|ovary(2)|lung(2)	6						c.(634-636)CAG>CGG		speckle-type POZ protein							102.0	106.0	104.0					17																	47688665		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47688665T>C	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"""BTB/POZ domain containing"""	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.635A>G	17.37:g.47688665T>C	ENSP00000377001:p.Gln212Arg	Prostate(2;0.17)				SPOP_uc002ipb.2_Missense_Mutation_p.Q212R|SPOP_uc002ipc.2_Missense_Mutation_p.Q212R|SPOP_uc002ipd.2_Missense_Mutation_p.Q212R|SPOP_uc002ipe.2_Missense_Mutation_p.Q212R|SPOP_uc002ipf.2_Missense_Mutation_p.Q212R|SPOP_uc002ipg.2_Missense_Mutation_p.Q212R	p.Q212R	NM_003563	NP_003554	O43791	SPOP_HUMAN			7	1267	-			212			BTB.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.635A>G	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	T	10.53	1.375656	0.24857	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503536;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581	T;T;T;T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14	5.46	5.46	0.80206	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.29914	0.0748	N	0.01076	-1.035	0.80722	D	1	B	0.09022	0.002	B	0.14578	0.011	T	0.41963	-0.9479	10	0.02654	T	1	-12.8349	15.3491	0.74368	0.0:0.0:0.0:1.0	.	212	O43791	SPOP_HUMAN	R	212;212;212;212;96;212;165;212;212	ENSP00000377001:Q212R;ENSP00000377004:Q212R;ENSP00000240327:Q212R;ENSP00000425905:Q212R;ENSP00000420908:Q212R;ENSP00000426986:Q212R;ENSP00000420960:Q212R	ENSP00000240327:Q212R	Q	-	2	0	SPOP	45043664	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.819000	0.86621	2.296000	0.77279	0.482000	0.46254	CAG		0.448	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		4	201	0	0	0	0	4	201				
ITGB4	3691	broad.mit.edu	37	17	73753345	73753345	+	Silent	SNP	C	C	T			TCGA-CR-6467-01A-11D-1870-08	TCGA-CR-6467-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2a7f5a16-9330-45a1-9024-1cff1cdb5714	85fe30a5-dc3c-47fc-8e86-33aa839416d4	g.chr17:73753345C>T	ENST00000200181.3	+	39	5470	c.5283C>T	c.(5281-5283)agC>agT	p.S1761S	GALK1_ENST00000225614.2_Intron|ITGB4_ENST00000449880.2_Silent_p.S1744S|ITGB4_ENST00000450894.3_Silent_p.S1691S|ITGB4_ENST00000579662.1_Silent_p.S1691S|ITGB4_ENST00000339591.3_Silent_p.S1744S	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	1761					amelogenesis (GO:0097186)|autophagy (GO:0006914)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell motility (GO:0048870)|cell-matrix adhesion (GO:0007160)|digestive tract development (GO:0048565)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|mesodermal cell differentiation (GO:0048333)|nail development (GO:0035878)|renal system development (GO:0072001)|response to wounding (GO:0009611)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|hemidesmosome (GO:0030056)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor binding (GO:0001664)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCGAGTACAGCAGCATCACCA	0.667																																						uc002jpg.2		NA																	0				lung(4)	4						c.(5281-5283)AGC>AGT		integrin beta 4 isoform 1 precursor							50.0	55.0	53.0					17																	73753345		2203	4299	6502	SO:0001819	synonymous_variant	3691				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity	g.chr17:73753345C>T		CCDS11727.1, CCDS32736.1, CCDS58599.1	17q25.1	2013-09-19			ENSG00000132470	ENSG00000132470		"""CD molecules"", ""Integrins"", ""Fibronectin type III domain containing"""	6158	protein-coding gene	gene with protein product		147557				2070796	Standard	XM_005257309		Approved	CD104	uc002jpg.3	P16144	OTTHUMG00000179814	ENST00000200181.3:c.5283C>T	17.37:g.73753345C>T						ITGB4_uc002jph.2_Silent_p.S1691S|ITGB4_uc002jpi.3_Silent_p.S1691S|ITGB4_uc002jpj.2_Silent_p.S1744S|GALK1_uc010wsi.1_Intron	p.S1761S	NM_000213	NP_000204	P16144	ITB4_HUMAN	all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)		39	5470	+	all_cancers(13;1.5e-07)		1761			Cytoplasmic (Potential).		A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Silent	SNP	ENST00000200181.3	37	c.5283C>T	CCDS11727.1																																																																																				0.667	ITGB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448334.1			16	37	0	0	0	0	16	37				
CCDC178	374864	broad.mit.edu	37	18	30969508	30969508	+	Silent	SNP	A	A	C			TCGA-CR-6467-01A-11D-1870-08	TCGA-CR-6467-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2a7f5a16-9330-45a1-9024-1cff1cdb5714	85fe30a5-dc3c-47fc-8e86-33aa839416d4	g.chr18:30969508A>C	ENST00000383096.3	-	5	386	c.204T>G	c.(202-204)acT>acG	p.T68T	CCDC178_ENST00000406524.2_Silent_p.T68T|CCDC178_ENST00000403303.1_Silent_p.T68T|CCDC178_ENST00000579916.1_Silent_p.T68T|CCDC178_ENST00000583930.1_Silent_p.T68T|CCDC178_ENST00000402325.1_Silent_p.T68T|CCDC178_ENST00000579947.1_Silent_p.T68T|CCDC178_ENST00000300227.8_Silent_p.T68T			Q5BJE1	CC178_HUMAN	coiled-coil domain containing 178	68																	CCTCACCTTCAGTATTTGTCA	0.279																																						uc002kxn.2		NA																	0				ovary(1)	1						c.(202-204)ACT>ACG		hypothetical protein LOC374864 isoform 1							77.0	77.0	77.0					18																	30969508		2203	4297	6500	SO:0001819	synonymous_variant	374864							g.chr18:30969508A>C	AK126038	CCDS11906.1, CCDS42424.1	18q12.1	2012-10-15	2012-10-15	2012-10-15	ENSG00000166960	ENSG00000166960			29588	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 34"""	C18orf34			Standard	NM_198995		Approved	FLJ44050	uc002kxn.2	Q5BJE1	OTTHUMG00000132279	ENST00000383096.3:c.204T>G	18.37:g.30969508A>C						C18orf34_uc010xbr.1_Silent_p.T68T|C18orf34_uc010dmf.1_Silent_p.T68T|C18orf34_uc002kxo.2_Silent_p.T68T|C18orf34_uc002kxp.2_Silent_p.T68T	p.T68T	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN			4	346	-			68					A6NDC6|J3KS92|Q6ZP67|Q6ZU20	Silent	SNP	ENST00000383096.3	37	c.204T>G	CCDS42424.1																																																																																				0.279	CCDC178-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255373.2	NM_198995		19	43	0	0	0	0	19	43				
ATP5A1	498	broad.mit.edu	37	18	43666161	43666161	+	Silent	SNP	G	G	A	rs141613719		TCGA-CR-6467-01A-11D-1870-08	TCGA-CR-6467-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2a7f5a16-9330-45a1-9024-1cff1cdb5714	85fe30a5-dc3c-47fc-8e86-33aa839416d4	g.chr18:43666161G>A	ENST00000398752.6	-	10	1468	c.1347C>T	c.(1345-1347)ttC>ttT	p.F449F	ATP5A1_ENST00000590665.1_Silent_p.F427F|ATP5A1_ENST00000593152.2_Silent_p.F399F|ATP5A1_ENST00000282050.2_Silent_p.F449F	NM_001001935.2|NM_004046.5	NP_001001935.1|NP_004037.1	P25705	ATPA_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle	449					ATP biosynthetic process (GO:0006754)|ATP catabolic process (GO:0006200)|ATP hydrolysis coupled proton transport (GO:0015991)|cellular metabolic process (GO:0044237)|embryo development (GO:0009790)|lipid metabolic process (GO:0006629)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|negative regulation of endothelial cell proliferation (GO:0001937)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|proton-transporting ATP synthase complex, catalytic core F(1) (GO:0045261)	ATP binding (GO:0005524)|MHC class I protein binding (GO:0042288)|poly(A) RNA binding (GO:0044822)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transmembrane transporter activity (GO:0022857)			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|skin(1)|urinary_tract(1)	22						GGTCAGAACCGAACTGGGCAA	0.458																																						uc002lbr.1		NA																	0					0						c.(1345-1347)TTC>TTT		ATP synthase, H+ transporting, mitochondrial F1		G	,	1,4405	2.1+/-5.4	0,1,2202	92.0	84.0	86.0		1347,1347	-5.6	1.0	18	dbSNP_134	86	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	ATP5A1	NM_001001937.1,NM_004046.4	,	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	,	449/554,449/554	43666161	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	498				ATP hydrolysis coupled proton transport|embryo development|lipid metabolic process|negative regulation of endothelial cell proliferation|respiratory electron transport chain	mitochondrial matrix|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism	g.chr18:43666161G>A	D14710	CCDS11927.1, CCDS58620.1, CCDS59315.1	18q21	2012-10-12	2006-01-13		ENSG00000152234	ENSG00000152234	3.6.1.14	"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	823	protein-coding gene	gene with protein product		164360	"""ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, isoform 2, non-cardiac muscle-like 2"", ""ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, isoform 1, cardiac muscle"""	ATP5AL2, ATPM		1830491	Standard	NM_001257334		Approved	ATP5A, hATP1, OMR, ORM	uc002lbr.2	P25705	OTTHUMG00000132637	ENST00000398752.6:c.1347C>T	18.37:g.43666161G>A						ATP5A1_uc010dnl.1_Silent_p.F399F|ATP5A1_uc002lbs.1_Silent_p.F399F|ATP5A1_uc002lbt.1_Silent_p.F449F	p.F449F	NM_004046	NP_004037	P25705	ATPA_HUMAN			10	1437	-			449					A8K092|B4DY56|K7ENP3|Q53XX6|Q8IXV2|Q96FB4|Q96HW2|Q96IR6|Q9BTV8	Silent	SNP	ENST00000398752.6	37	c.1347C>T	CCDS11927.1																																																																																				0.458	ATP5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255884.1	NM_004046		51	44	0	0	0	0	51	44				
APBA3	9546	broad.mit.edu	37	19	3752701	3752701	+	Silent	SNP	C	C	G			TCGA-CR-6467-01A-11D-1870-08	TCGA-CR-6467-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2a7f5a16-9330-45a1-9024-1cff1cdb5714	85fe30a5-dc3c-47fc-8e86-33aa839416d4	g.chr19:3752701C>G	ENST00000316757.3	-	8	1400	c.1200G>C	c.(1198-1200)cgG>cgC	p.R400R	AC005954.4_ENST00000586503.1_RNA|AC005954.3_ENST00000591962.1_RNA	NM_004886.3	NP_004877.1	O96018	APBA3_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 3	400	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				in utero embryonic development (GO:0001701)|negative regulation of catalytic activity (GO:0043086)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	perinuclear region of cytoplasm (GO:0048471)	beta-amyloid binding (GO:0001540)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)			endometrium(1)|large_intestine(1)|skin(1)	3		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTCCCCTCGCCGCTTCTCGA	0.746																																						uc002lyp.1		NA																	0					0						c.(1198-1200)CGG>CGC		amyloid beta (A4) precursor protein-binding,							7.0	9.0	8.0					19																	3752701		2140	4211	6351	SO:0001819	synonymous_variant	9546				intracellular signal transduction|protein transport	intracellular|membrane	protein binding	g.chr19:3752701C>G	AB021638	CCDS12110.1	19p13.3	2008-07-18	2008-07-18			ENSG00000011132			580	protein-coding gene	gene with protein product	"""X11-like 2"""	604262				10049767	Standard	NM_004886		Approved	X11L2, mint3	uc002lyp.1	O96018		ENST00000316757.3:c.1200G>C	19.37:g.3752701C>G						APBA3_uc002lyo.1_Silent_p.R158R	p.R400R	NM_004886	NP_004877	O96018	APBA3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18)	8	1377	-		Hepatocellular(1079;0.137)	400			PDZ 1.		O60483|Q9UPZ2	Silent	SNP	ENST00000316757.3	37	c.1200G>C	CCDS12110.1																																																																																				0.746	APBA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453634.2			6	8	0	0	0	0	6	8				
DPP9	91039	broad.mit.edu	37	19	4684712	4684712	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6467-01A-11D-1870-08	TCGA-CR-6467-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2a7f5a16-9330-45a1-9024-1cff1cdb5714	85fe30a5-dc3c-47fc-8e86-33aa839416d4	g.chr19:4684712C>A	ENST00000598800.1	-	19	2559	c.2054G>T	c.(2053-2055)cGa>cTa	p.R685L	AC005594.3_ENST00000381796.1_RNA|DPP9_ENST00000262960.9_Missense_Mutation_p.R714L|DPP9_ENST00000601173.1_5'UTR|DPP9_ENST00000594671.1_Missense_Mutation_p.R685L			Q86TI2	DPP9_HUMAN	dipeptidyl-peptidase 9	685						cytoplasm (GO:0005737)|membrane (GO:0016020)	aminopeptidase activity (GO:0004177)|identical protein binding (GO:0042802)|serine-type peptidase activity (GO:0008236)			cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		CCGAAGCCCTCGCTGACAGGA	0.582																																						uc002mba.2		NA																	0				skin(1)	1						c.(2140-2142)CGA>CTA		dipeptidylpeptidase 9							54.0	61.0	59.0					19																	4684712		2003	4163	6166	SO:0001583	missense	91039				proteolysis	cytosol|membrane	aminopeptidase activity|serine-type peptidase activity	g.chr19:4684712C>A	AF452102	CCDS45928.1	19p13.3	2014-06-11	2006-01-12		ENSG00000142002	ENSG00000142002			18648	protein-coding gene	gene with protein product		608258	"""dipeptidylpeptidase 9"""				Standard	NM_139159		Approved		uc002mba.3	Q86TI2	OTTHUMG00000182040	ENST00000598800.1:c.2054G>T	19.37:g.4684712C>A	ENSP00000469603:p.Arg685Leu						p.R714L	NM_139159	NP_631898	Q86TI2	DPP9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)	18	2399	-		Hepatocellular(1079;0.137)	685					O75273|O75868|Q1ZZB8|Q6AI37|Q6UAL0|Q6ZMT2|Q6ZNJ5|Q8N2J7|Q8N3F5|Q8WXD8|Q96NT8|Q9BVR3	Missense_Mutation	SNP	ENST00000598800.1	37	c.2141G>T		.	.	.	.	.	.	.	.	.	.	C	28.2	4.899431	0.91962	.	.	ENSG00000142002	ENST00000357909;ENST00000381797;ENST00000262960	T	0.30182	1.54	4.43	4.43	0.53597	.	0.000000	0.85682	D	0.000000	T	0.64148	0.2572	M	0.91717	3.235	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.74581	-0.3618	10	0.87932	D	0	-12.7059	16.2818	0.82694	0.0:1.0:0.0:0.0	.	714	Q1ZZB8	.	L	793;655;714	ENSP00000262960:R714L	ENSP00000262960:R714L	R	-	2	0	DPP9	4635712	1.000000	0.71417	0.997000	0.53966	0.828000	0.46876	7.510000	0.81708	2.305000	0.77605	0.555000	0.69702	CGA		0.582	DPP9-026	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000459343.2			7	15	1	0	1.26e-09	1.41e-09	7	15				
ZSCAN5B	342933	broad.mit.edu	37	19	56703238	56703238	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6467-01A-11D-1870-08	TCGA-CR-6467-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2a7f5a16-9330-45a1-9024-1cff1cdb5714	85fe30a5-dc3c-47fc-8e86-33aa839416d4	g.chr19:56703238G>C	ENST00000586855.2	-	3	882	c.569C>G	c.(568-570)gCt>gGt	p.A190G	ZSCAN5B_ENST00000358992.3_Missense_Mutation_p.A190G			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	190					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						GGACAGTGCAGCGACCCTGGG	0.622																																						uc010ygh.1		NA																	0				ovary(1)|skin(1)	2						c.(568-570)GCT>GGT		zinc finger and SCAN domain containing 5B							34.0	35.0	35.0					19																	56703238		2203	4300	6503	SO:0001583	missense	342933				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:56703238G>C		CCDS46203.1	19q13.42	2013-01-08			ENSG00000197213	ENSG00000197213		"""-"", ""Zinc fingers, C2H2-type"""	34246	protein-coding gene	gene with protein product							Standard	NM_001080456		Approved	ZNF495B, ZNF371	uc010ygh.2	A6NJL1		ENST00000586855.2:c.569C>G	19.37:g.56703238G>C	ENSP00000466072:p.Ala190Gly						p.A190G	NM_001080456	NP_001073925	A6NJL1	ZSA5B_HUMAN			2	569	-			190						Missense_Mutation	SNP	ENST00000586855.2	37	c.569C>G	CCDS46203.1	.	.	.	.	.	.	.	.	.	.	G	5.553	0.286907	0.10513	.	.	ENSG00000197213	ENST00000358992	T	0.05996	3.36	1.9	-3.81	0.04294	.	.	.	.	.	T	0.02494	0.0076	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.45891	-0.9230	9	0.21540	T	0.41	.	3.9523	0.09374	0.0:0.237:0.4211:0.3419	.	190	A6NJL1	ZSA5B_HUMAN	G	190	ENSP00000351883:A190G	ENSP00000351883:A190G	A	-	2	0	ZSCAN5B	61395050	0.000000	0.05858	0.000000	0.03702	0.042000	0.13812	-2.426000	0.01027	-0.977000	0.03537	0.306000	0.20318	GCT		0.622	ZSCAN5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457834.2	NM_001080456		6	31	0	0	0	0	6	31				
LRP1B	53353	broad.mit.edu	37	2	141267498	141267498	+	Splice_Site	SNP	G	G	A			TCGA-CR-6467-01A-11D-1870-08	TCGA-CR-6467-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2a7f5a16-9330-45a1-9024-1cff1cdb5714	85fe30a5-dc3c-47fc-8e86-33aa839416d4	g.chr2:141267498G>A	ENST00000389484.3	-	52	9368	c.8397C>T	c.(8395-8397)tgC>tgT	p.C2799C		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2799	LDL-receptor class A 17. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.C2799C(2)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TGTTCATACCGCAGCCTGCTG	0.507										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1		NA																	2	Substitution - coding silent(2)		lung(2)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(8395-8397)TGC>TGT		low density lipoprotein-related protein 1B							122.0	105.0	111.0					2																	141267498		2203	4300	6503	SO:0001630	splice_region_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141267498G>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.8398+1C>T	2.37:g.141267498G>A		TSP Lung(27;0.18)					p.C2799C	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	52	9369	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	2799			Extracellular (Potential).|LDL-receptor class A 17.		Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	37	c.8397C>T	CCDS2182.1																																																																																				0.507	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557	Silent	4	110	0	0	0	0	4	110				
OBSL1	23363	broad.mit.edu	37	2	220435109	220435109	+	Silent	SNP	C	C	T			TCGA-CR-6467-01A-11D-1870-08	TCGA-CR-6467-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2a7f5a16-9330-45a1-9024-1cff1cdb5714	85fe30a5-dc3c-47fc-8e86-33aa839416d4	g.chr2:220435109C>T	ENST00000404537.1	-	1	902	c.846G>A	c.(844-846)gaG>gaA	p.E282E	INHA_ENST00000489456.1_Intron|INHA_ENST00000243786.2_5'Flank|OBSL1_ENST00000603926.1_Silent_p.E282E|OBSL1_ENST00000265318.4_Silent_p.E282E|OBSL1_ENST00000491370.1_5'Flank|OBSL1_ENST00000373873.4_Silent_p.E282E|OBSL1_ENST00000289656.3_Intron|OBSL1_ENST00000373876.1_Silent_p.E282E	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	282	Ig-like 3.				cardiac myofibril assembly (GO:0055003)|cytoskeleton organization (GO:0007010)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of dendrite morphogenesis (GO:0050775)|protein localization to Golgi apparatus (GO:0034067)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|M band (GO:0031430)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		GCGGGCGGCCCTCCCAGTGCC	0.672																																						uc010fwk.2		NA																	0					0						c.(844-846)GAG>GAA		obscurin-like 1							25.0	32.0	30.0					2																	220435109		2034	4157	6191	SO:0001819	synonymous_variant	23363				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity	g.chr2:220435109C>T	BC007201	CCDS46520.1, CCDS54433.1, CCDS63134.1	2q35	2013-01-29			ENSG00000124006	ENSG00000124006		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29092	protein-coding gene	gene with protein product		610991				9734811	Standard	NM_015311		Approved	KIAA0657	uc010fwk.3	O75147	OTTHUMG00000059157	ENST00000404537.1:c.846G>A	2.37:g.220435109C>T						OBSL1_uc010fwl.1_5'Flank|OBSL1_uc002vmi.2_Silent_p.E282E|OBSL1_uc002vmj.2_Intron|INHA_uc002vmk.1_5'Flank	p.E282E	NM_015311	NP_056126	O75147	OBSL1_HUMAN		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)	1	903	-		Renal(207;0.0376)	282			Ig-like 3.		A4KVA4|A4KVA5|Q96IW3|S4R3M6	Silent	SNP	ENST00000404537.1	37	c.846G>A	CCDS46520.1																																																																																				0.672	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322012.1			10	20	0	0	0	0	10	20				
KIF1A	547	broad.mit.edu	37	2	241722504	241722504	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6467-01A-11D-1870-08	TCGA-CR-6467-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2a7f5a16-9330-45a1-9024-1cff1cdb5714	85fe30a5-dc3c-47fc-8e86-33aa839416d4	g.chr2:241722504G>A	ENST00000320389.7	-	9	979	c.821C>T	c.(820-822)tCg>tTg	p.S274L	KIF1A_ENST00000498729.2_Missense_Mutation_p.S274L	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	274	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		GGTGGTCAGCGACTTGTTGAT	0.657																																						uc002vzy.2		NA																	0				lung(1)	1						c.(820-822)TCG>TTG		axonal transport of synaptic vesicles							91.0	107.0	101.0					2																	241722504		2001	4157	6158	SO:0001583	missense	547				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity	g.chr2:241722504G>A	AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	888	protein-coding gene	gene with protein product		601255	"""axonal transport of synaptic vesicles"", ""chromosome 2 open reading frame 20"", ""spastic paraplegia 30 (autosomal recessive)"""	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.821C>T	2.37:g.241722504G>A	ENSP00000322791:p.Ser274Leu					KIF1A_uc010fzk.2_Missense_Mutation_p.S274L|KIF1A_uc002vzz.1_Missense_Mutation_p.S274L	p.S274L	NM_004321	NP_004312	Q12756	KIF1A_HUMAN		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)	9	967	-		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	274			Kinesin-motor.		B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Missense_Mutation	SNP	ENST00000320389.7	37	c.821C>T	CCDS46561.1	.	.	.	.	.	.	.	.	.	.	g	17.57	3.423570	0.62733	.	.	ENSG00000130294	ENST00000320389;ENST00000498729;ENST00000373308;ENST00000404283	D;D;D	0.87729	-2.29;-2.29;-2.29	3.54	3.54	0.40534	Kinesin, motor domain (3);	0.204155	0.43110	U	0.000608	D	0.93628	0.7965	H	0.99916	4.945	0.80722	D	1	P;B;P	0.43578	0.703;0.444;0.811	B;B;B	0.39503	0.301;0.034;0.18	D	0.96112	0.9078	10	0.87932	D	0	.	15.4947	0.75641	0.0:0.0:1.0:0.0	.	274;274;274	F5H045;Q12756-2;Q12756	.;.;KIF1A_HUMAN	L	274	ENSP00000322791:S274L;ENSP00000438388:S274L;ENSP00000384231:S274L	ENSP00000322791:S274L	S	-	2	0	KIF1A	241371177	1.000000	0.71417	0.996000	0.52242	0.228000	0.25075	9.559000	0.98135	1.712000	0.51347	0.552000	0.68991	TCG		0.657	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	NM_138483		24	40	0	0	0	0	24	40				
CCM2L	140706	broad.mit.edu	37	20	30617557	30617557	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6467-01A-11D-1870-08	TCGA-CR-6467-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2a7f5a16-9330-45a1-9024-1cff1cdb5714	85fe30a5-dc3c-47fc-8e86-33aa839416d4	g.chr20:30617557G>A	ENST00000300415.8	+	9	1331	c.1318G>A	c.(1318-1320)Gag>Aag	p.E440K	RP1-310O13.7_ENST00000449519.1_RNA|CCM2L_ENST00000262659.8_Silent_p.G418G			Q9NUG4	CCM2L_HUMAN	cerebral cavernous malformation 2-like	440																	GCTGCTGCGGGAGTACCGGCT	0.617																																						uc002wxf.2		NA																	0				central_nervous_system(3)|ovary(1)	4						c.(1252-1254)GGG>GGA		hypothetical protein LOC140706							72.0	65.0	68.0					20																	30617557		2203	4300	6503	SO:0001583	missense	140706							g.chr20:30617557G>A	AL031658	CCDS13195.1	20q11.21	2012-10-30	2012-10-30	2012-10-30	ENSG00000101331	ENSG00000101331			16153	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 160"""	C20orf160			Standard	NM_080625		Approved	dJ310O13.5	uc002wxf.2	Q9NUG4	OTTHUMG00000032197	ENST00000300415.8:c.1318G>A	20.37:g.30617557G>A	ENSP00000300415:p.Glu440Lys					C20orf160_uc002wxg.2_Missense_Mutation_p.E22K	p.G418G	NM_080625	NP_542192	Q9NUG4	CT160_HUMAN			8	1267	+			Error:Variant_position_missing_in_Q9NUG4_after_alignment					Q5JYR9|Q8N5F1|Q8N6G8|Q96MD5	Silent	SNP	ENST00000300415.8	37	c.1254G>A		.	.	.	.	.	.	.	.	.	.	G	22.0	4.225953	0.79576	.	.	ENSG00000101331	ENST00000300415;ENST00000452892	T;T	0.43294	0.95;0.95	5.79	5.79	0.91817	.	0.104851	0.64402	D	0.000005	T	0.40619	0.1124	.	.	.	0.43399	D	0.995525	B	0.30686	0.29	B	0.32864	0.154	T	0.33317	-0.9873	9	0.72032	D	0.01	-18.8508	14.6119	0.68522	0.0:0.1453:0.8547:0.0	.	440	Q9NUG4	CT160_HUMAN	K	440;193	ENSP00000300415:E440K;ENSP00000392448:E193K	ENSP00000300415:E440K	E	+	1	0	C20orf160	30081218	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	6.556000	0.73932	2.735000	0.93741	0.563000	0.77884	GAG		0.617	CCM2L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_080625		11	54	0	0	0	0	11	54				
DSN1	79980	broad.mit.edu	37	20	35399490	35399490	+	Silent	SNP	G	G	A	rs139234953		TCGA-CR-6467-01A-11D-1870-08	TCGA-CR-6467-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2a7f5a16-9330-45a1-9024-1cff1cdb5714	85fe30a5-dc3c-47fc-8e86-33aa839416d4	g.chr20:35399490G>A	ENST00000426836.1	-	3	513	c.141C>T	c.(139-141)ggC>ggT	p.G47G	DSN1_ENST00000473615.1_Intron|DSN1_ENST00000373750.4_Silent_p.G47G|DSN1_ENST00000373745.3_Silent_p.G47G|DSN1_ENST00000448110.2_Silent_p.G31G|DSN1_ENST00000373740.3_Intron|DSN1_ENST00000373734.4_Intron	NM_001145316.1	NP_001138788.1	Q9H410	DSN1_HUMAN	DSN1, MIS12 kinetochore complex component	47					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|MIS12/MIND type complex (GO:0000444)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	16		Myeloproliferative disorder(115;0.00874)				CCTCTGAAACGCCTTGATTCA	0.448													g|||	1	0.000199681	0.0008	0.0	5008	,	,		19926	0.0		0.0	False		,,,				2504	0.0					uc010gfr.2		NA																	0				ovary(2)	2						c.(139-141)GGC>GGT		DSN1, MIND kinetochore complex component,		-	,,,,	3,4403	6.2+/-15.9	0,3,2200	164.0	163.0	163.0		141,141,,93,141	-8.1	0.0	20	dbSNP_134	163	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,intron,coding-synonymous,coding-synonymous	DSN1	NM_001145315.1,NM_001145316.1,NM_001145317.1,NM_001145318.1,NM_024918.3	,,,,	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	,,,,	47/357,47/357,,31/341,47/357	35399490	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	79980				cell division|chromosome segregation|mitotic prometaphase	cytosol|MIS12/MIND type complex|nucleus	protein binding	g.chr20:35399490G>A	AK023408	CCDS13286.1, CCDS46596.1, CCDS46597.1	20q11.23	2013-07-03	2013-07-03	2006-11-07	ENSG00000149636	ENSG00000149636			16165	protein-coding gene	gene with protein product	"""kinetochore null 3 homolog (C. elegans)"""	609175	"""chromosome 20 open reading frame 172"", ""DSN1, MIND kinetochore complex component, homolog (S. cerevisiae)"""	C20orf172		16585270, 20819937	Standard	NM_001145315		Approved	dJ469A13.2, MIS13, KNL3, hKNL-3	uc002xfz.3	Q9H410	OTTHUMG00000032396	ENST00000426836.1:c.141C>T	20.37:g.35399490G>A						DSN1_uc002xfz.2_Silent_p.G47G|DSN1_uc002xfy.3_Intron|DSN1_uc002xga.2_Silent_p.G47G|DSN1_uc010zvs.1_Intron|DSN1_uc002xgc.2_Silent_p.G31G|DSN1_uc002xgb.2_Silent_p.G31G	p.G47G	NM_001145316	NP_001138788	Q9H410	DSN1_HUMAN			3	514	-		Myeloproliferative disorder(115;0.00874)	47					B4DWT2|E1P5U9|Q5JW55|Q5JW56|Q9H8P4	Silent	SNP	ENST00000426836.1	37	c.141C>T	CCDS13286.1																																																																																				0.448	DSN1-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079043.2	NM_024918		53	205	0	0	0	0	53	205				
MC3R	4159	broad.mit.edu	37	20	54823948	54823948	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6467-01A-11D-1870-08	TCGA-CR-6467-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2a7f5a16-9330-45a1-9024-1cff1cdb5714	85fe30a5-dc3c-47fc-8e86-33aa839416d4	g.chr20:54823948G>A	ENST00000243911.2	+	1	161	c.49G>A	c.(49-51)Ggc>Agc	p.G17S		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	17					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|homoiothermy (GO:0042309)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP biosynthetic process (GO:0030819)|regulation of blood pressure (GO:0008217)|regulation of heart rate (GO:0002027)|sodium ion homeostasis (GO:0055078)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			ACTGCCTAATGGCTCGGAGCA	0.582																																						uc002xxb.2		NA																	0				ovary(2)|breast(2)	4						c.(49-51)GGC>AGC		melanocortin 3 receptor							125.0	124.0	124.0					20																	54823948		2203	4300	6503	SO:0001583	missense	4159				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding	g.chr20:54823948G>A		CCDS13449.2	20q13.2-q13.3	2012-08-10			ENSG00000124089	ENSG00000124089		"""GPCR / Class A : Melanocortin receptors"""	6931	protein-coding gene	gene with protein product		155540				8463333	Standard	NM_019888		Approved	MC3	uc002xxb.2	P41968	OTTHUMG00000032785	ENST00000243911.2:c.49G>A	20.37:g.54823948G>A	ENSP00000243911:p.Gly17Ser						p.G17S	NM_019888	NP_063941	P41968	MC3R_HUMAN	Colorectal(105;0.202)		1	161	+			54			Extracellular (Potential).		Q4KN27|Q9H517	Missense_Mutation	SNP	ENST00000243911.2	37	c.49G>A	CCDS13449.2	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.909632	0.00508	.	.	ENSG00000124089	ENST00000243911	T	0.35421	1.31	5.01	-10.0	0.00425	.	2.607410	0.01271	N	0.009445	T	0.19446	0.0467	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.13415	-1.0510	10	0.25751	T	0.34	.	15.6913	0.77457	0.1108:0.0999:0.7893:0.0	.	54	P41968	MC3R_HUMAN	S	17	ENSP00000243911:G17S	ENSP00000243911:G17S	G	+	1	0	MC3R	54257355	0.000000	0.05858	0.002000	0.10522	0.022000	0.10575	-1.626000	0.02035	-2.576000	0.00465	-0.355000	0.07637	GGC		0.582	MC3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079786.2			56	153	0	0	0	0	56	153				
LSS	4047	broad.mit.edu	37	21	47626627	47626627	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6467-01A-11D-1870-08	TCGA-CR-6467-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2a7f5a16-9330-45a1-9024-1cff1cdb5714	85fe30a5-dc3c-47fc-8e86-33aa839416d4	g.chr21:47626627C>T	ENST00000397728.3	-	16	1601	c.1523G>A	c.(1522-1524)gGg>gAg	p.G508E	LSS_ENST00000457828.2_Missense_Mutation_p.G428E|LSS_ENST00000356396.4_Missense_Mutation_p.G508E|LSS_ENST00000522411.1_Missense_Mutation_p.G497E	NM_001145436.1|NM_002340.5	NP_001138908.1|NP_002331.3	P48449	ERG7_HUMAN	lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)	508					cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|lipid particle (GO:0005811)|membrane (GO:0016020)	lanosterol synthase activity (GO:0000250)			cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	21	Breast(49;0.214)					CAAGTGCCCCCCACGCTTGGT	0.602																																					Pancreas(114;955 2313 34923 50507)	uc002zij.2		NA																	0					0						c.(1522-1524)GGG>GAG		lanosterol synthase isoform 1							80.0	72.0	75.0					21																	47626627		2203	4300	6503	SO:0001583	missense	4047				cholesterol biosynthetic process	endoplasmic reticulum membrane	lanosterol synthase activity	g.chr21:47626627C>T	U22526	CCDS13733.1, CCDS46654.1, CCDS54489.1	21q22.3	1998-05-07			ENSG00000160285	ENSG00000160285	5.4.99.7		6708	protein-coding gene	gene with protein product		600909				7639730, 8655142	Standard	NM_001001438		Approved	OSC	uc002zij.3	P48449	OTTHUMG00000090633	ENST00000397728.3:c.1523G>A	21.37:g.47626627C>T	ENSP00000380837:p.Gly508Glu					LSS_uc011afv.1_Missense_Mutation_p.G497E|LSS_uc002zil.2_Missense_Mutation_p.G508E|LSS_uc002zik.2_Missense_Mutation_p.G428E	p.G508E	NM_001001438	NP_001001438	P48449	ERG7_HUMAN			16	1602	-	Breast(49;0.214)		508			PFTB 2.		B4DJZ9|D3DSN0|E9PEI9|G5E9Q9|Q8IYL6|Q9UEZ1	Missense_Mutation	SNP	ENST00000397728.3	37	c.1523G>A	CCDS13733.1	.	.	.	.	.	.	.	.	.	.	C	34	5.364144	0.95877	.	.	ENSG00000160285	ENST00000356396;ENST00000457828;ENST00000397728;ENST00000522411	T;T;T;T	0.24350	1.86;1.86;1.86;1.86	5.44	5.44	0.79542	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);	0.095665	0.64402	D	0.000001	T	0.59662	0.2210	M	0.88640	2.97	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.75020	0.985;0.98	T	0.66131	-0.6000	10	0.66056	D	0.02	.	19.2365	0.93862	0.0:1.0:0.0:0.0	.	497;508	E9PEI9;P48449	.;ERG7_HUMAN	E	508;428;508;497	ENSP00000348762:G508E;ENSP00000409191:G428E;ENSP00000380837:G508E;ENSP00000429133:G497E	ENSP00000348762:G508E	G	-	2	0	LSS	46451055	1.000000	0.71417	0.989000	0.46669	0.995000	0.86356	7.488000	0.81441	2.732000	0.93576	0.655000	0.94253	GGG		0.602	LSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207274.2			20	56	0	0	0	0	20	56				
RIMBP3	85376	broad.mit.edu	37	22	20458538	20458538	+	Nonsense_Mutation	SNP	G	G	A	rs529630375		TCGA-CR-6467-01A-11D-1870-08	TCGA-CR-6467-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2a7f5a16-9330-45a1-9024-1cff1cdb5714	85fe30a5-dc3c-47fc-8e86-33aa839416d4	g.chr22:20458538G>A	ENST00000426804.1	-	1	3248	c.2764C>T	c.(2764-2766)Cag>Tag	p.Q922*	RN7SKP131_ENST00000363006.1_RNA	NM_015672.1	NP_056487.1	Q9UFD9	RIM3A_HUMAN	RIMS binding protein 3	922										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)			GCTTCATCCTGCCCCGCTGGG	0.597																																						uc002zsd.3		NA																	0					0						c.(2764-2766)CAG>TAG		RIMS binding protein 3							24.0	30.0	28.0					22																	20458538		1298	3150	4448	SO:0001587	stop_gained	85376							g.chr22:20458538G>A	AB051453	CCDS46665.1	22q11.21	2014-05-06			ENSG00000196622	ENSG00000275793			29344	protein-coding gene	gene with protein product		612699				11258795, 17855024	Standard	NM_015672		Approved	KIAA1666, RIMBP3.1, RIMBP3A	uc002zsd.4	Q9UFD9	OTTHUMG00000188355	ENST00000426804.1:c.2764C>T	22.37:g.20458538G>A	ENSP00000391564:p.Gln922*						p.Q922*	NM_015672	NP_056487			LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)		1	3249	-	Colorectal(54;0.0993)|Melanoma(16;0.165)							Q8IYP7|Q9BY94|Q9UFQ5	Nonsense_Mutation	SNP	ENST00000426804.1	37	c.2764C>T	CCDS46665.1	.	.	.	.	.	.	.	.	.	.	G	41	8.776221	0.98950	.	.	ENSG00000196622	ENST00000355186;ENST00000426804	.	.	.	4.08	4.08	0.47627	.	0.468333	0.21057	N	0.080881	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	-4.84	8.178	0.31294	0.1143:0.0:0.8857:0.0	.	.	.	.	X	828;922	.	ENSP00000347318:Q828X	Q	-	1	0	RIMBP3	18838538	0.001000	0.12720	0.020000	0.16555	0.122000	0.20287	0.948000	0.29096	1.999000	0.58509	0.398000	0.26397	CAG		0.597	RIMBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318945.2	NM_015672		10	34	0	0	0	0	10	34				
SLC4A7	9497	broad.mit.edu	37	3	27431585	27431585	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6467-01A-11D-1870-08	TCGA-CR-6467-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2a7f5a16-9330-45a1-9024-1cff1cdb5714	85fe30a5-dc3c-47fc-8e86-33aa839416d4	g.chr3:27431585C>T	ENST00000295736.5	-	22	3240	c.3170G>A	c.(3169-3171)cGt>cAt	p.R1057H	SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000445684.1_Missense_Mutation_p.R1053H|SLC4A7_ENST00000435667.2_Missense_Mutation_p.R942H|SLC4A7_ENST00000455077.1_Missense_Mutation_p.R938H|SLC4A7_ENST00000440156.1_Missense_Mutation_p.R1053H|SLC4A7_ENST00000454389.1_Missense_Mutation_p.R1066H|SLC4A7_ENST00000446700.1_Missense_Mutation_p.R1049H|SLC4A7_ENST00000437179.1_Missense_Mutation_p.R938H|SLC4A7_ENST00000388777.4_Missense_Mutation_p.R607H|SLC4A7_ENST00000428386.1_Missense_Mutation_p.R933H	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	1057					auditory receptor cell development (GO:0060117)|bicarbonate transport (GO:0015701)|cochlear nucleus development (GO:0021747)|ion transport (GO:0006811)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal cell programmed cell death (GO:0046666)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38					Sodium bicarbonate(DB01390)	TAATTTTATACGGTCAAATAA	0.328																																						uc003cdv.2		NA																	0				ovary(3)|central_nervous_system(1)|skin(1)	5						c.(3169-3171)CGT>CAT		solute carrier family 4, sodium bicarbonate							86.0	97.0	93.0					3																	27431585		2203	4300	6503	SO:0001583	missense	9497					apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr3:27431585C>T	AB012130	CCDS33721.1, CCDS58819.1, CCDS58820.1	3p24.1	2013-05-22			ENSG00000033867	ENSG00000033867		"""Solute carriers"""	11033	protein-coding gene	gene with protein product		603353		SLC4A6		10198178, 9610397	Standard	NM_003615		Approved	NBC3, SBC2	uc003cdv.4	Q9Y6M7	OTTHUMG00000155679	ENST00000295736.5:c.3170G>A	3.37:g.27431585C>T	ENSP00000295736:p.Arg1057His					SLC4A7_uc011awu.1_RNA|SLC4A7_uc011awv.1_RNA|SLC4A7_uc003cdu.3_Missense_Mutation_p.R938H|SLC4A7_uc011aww.1_Missense_Mutation_p.R1066H|SLC4A7_uc011awx.1_Missense_Mutation_p.R1053H|SLC4A7_uc011awy.1_Missense_Mutation_p.R1049H|SLC4A7_uc011awz.1_RNA|SLC4A7_uc011axa.1_Missense_Mutation_p.R938H|SLC4A7_uc011axb.1_Missense_Mutation_p.R1053H|SLC4A7_uc010hfl.2_Missense_Mutation_p.R607H|SLC4A7_uc003cdw.2_Missense_Mutation_p.R933H	p.R1057H	NM_003615	NP_003606	Q9Y6M7	S4A7_HUMAN			22	3241	-			1057			Extracellular (Potential).		A6NIA8|B2CI53|B5M449|B5M451|B5M452|B5M453|B6DY52|B6DY53|C9JST9|D3K174|D3K175|O60350|Q6AHZ9|Q9HC88|Q9UIB9	Missense_Mutation	SNP	ENST00000295736.5	37	c.3170G>A	CCDS33721.1	.	.	.	.	.	.	.	.	.	.	C	34	5.305851	0.95629	.	.	ENSG00000033867	ENST00000419036;ENST00000295736;ENST00000428386;ENST00000454389;ENST00000440156;ENST00000437179;ENST00000446700;ENST00000455077;ENST00000445684;ENST00000435667;ENST00000388777;ENST00000428179	D;D;D;D;D;D;D;D;D;D;D;D	0.86562	-2.14;-2.14;-2.14;-2.14;-2.14;-2.14;-2.14;-2.14;-2.14;-2.14;-2.14;-2.14	5.31	5.31	0.75309	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.96234	0.8772	H	0.97635	4.045	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.97705	1.0187	10	0.87932	D	0	.	18.9786	0.92747	0.0:1.0:0.0:0.0	.	1053;938;1049;1053;1066;607;933;1057;938	E9PFN4;B5M452;E9PGC1;B5M453;E9PDL9;F8W7E6;Q9Y6M7-2;Q9Y6M7;B2CI53	.;.;.;.;.;.;.;S4A7_HUMAN;.	H	608;1057;933;1066;1053;938;1049;938;1053;942;607;953	ENSP00000411031:R608H;ENSP00000295736:R1057H;ENSP00000416368:R933H;ENSP00000390394:R1066H;ENSP00000414797:R1053H;ENSP00000394252:R938H;ENSP00000406605:R1049H;ENSP00000407382:R938H;ENSP00000406804:R1053H;ENSP00000395336:R942H;ENSP00000373429:R607H;ENSP00000388703:R953H	ENSP00000295736:R1057H	R	-	2	0	SLC4A7	27406589	1.000000	0.71417	0.992000	0.48379	0.949000	0.60115	7.818000	0.86416	2.479000	0.83701	0.650000	0.86243	CGT		0.328	SLC4A7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341230.2	NM_003615		4	163	0	0	0	0	4	163				
ZCCHC4	29063	broad.mit.edu	37	4	25314436	25314436	+	Missense_Mutation	SNP	C	C	T	rs372779261		TCGA-CR-6467-01A-11D-1870-08	TCGA-CR-6467-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2a7f5a16-9330-45a1-9024-1cff1cdb5714	85fe30a5-dc3c-47fc-8e86-33aa839416d4	g.chr4:25314436C>T	ENST00000302874.4	+	1	29	c.5C>T	c.(4-6)gCg>gTg	p.A2V	ZCCHC4_ENST00000505451.1_3'UTR	NM_024936.2	NP_079212.2	Q9H5U6	ZCHC4_HUMAN	zinc finger, CCHC domain containing 4	2							methyltransferase activity (GO:0008168)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)	9		Breast(46;0.0503)				GGGAAGATGGCGGCCTCCAGG	0.652											OREG0016141	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003grl.3		NA																	0				ovary(2)	2						c.(4-6)GCG>GTG		zinc finger, CCHC domain containing 4		C	VAL/ALA	2,3946		0,2,1972	81.0	97.0	92.0		5	5.9	1.0	4		92	0,8294		0,0,4147	no	missense	ZCCHC4	NM_024936.2	64	0,2,6119	TT,TC,CC		0.0,0.0507,0.0163	benign	2/514	25314436	2,12240	1974	4147	6121	SO:0001583	missense	29063						methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr4:25314436C>T	AF161537	CCDS43218.1	4p15.31	2014-02-18			ENSG00000168228	ENSG00000168228		"""Zinc fingers, CCHC domain containing"""	22917	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 4"""	611792				11042152	Standard	NM_024936		Approved	HSPC052, FLJ23024, ZGRF4	uc003grl.4	Q9H5U6	OTTHUMG00000160563	ENST00000302874.4:c.5C>T	4.37:g.25314436C>T	ENSP00000303468:p.Ala2Val		OREG0016141	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	778		p.A2V	NM_024936	NP_079212	Q9H5U6	ZCHC4_HUMAN			1	41	+		Breast(46;0.0503)	2					B2RXF6|B4DRD8|B7ZW20|Q5IW78|Q96AN7	Missense_Mutation	SNP	ENST00000302874.4	37	c.5C>T	CCDS43218.1	.	.	.	.	.	.	.	.	.	.	C	19.34	3.808757	0.70797	5.07E-4	0.0	ENSG00000168228	ENST00000302874	T	0.33216	1.42	5.86	5.86	0.93980	.	0.501370	0.21382	N	0.075454	T	0.41650	0.1168	L	0.27053	0.805	0.39497	D	0.968137	D	0.89917	1.0	D	0.78314	0.991	T	0.09640	-1.0665	10	0.22109	T	0.4	-1.9851	15.6866	0.77415	0.0:1.0:0.0:0.0	.	2	Q9H5U6	ZCHC4_HUMAN	V	2	ENSP00000303468:A2V	ENSP00000303468:A2V	A	+	2	0	ZCCHC4	24923534	1.000000	0.71417	0.993000	0.49108	0.705000	0.40729	3.746000	0.55127	2.775000	0.95449	0.655000	0.94253	GCG		0.652	ZCCHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361151.1			4	174	0	0	0	0	4	174				
NAA11	84779	broad.mit.edu	37	4	80247011	80247011	+	Silent	SNP	C	C	T			TCGA-CR-6467-01A-11D-1870-08	TCGA-CR-6467-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2a7f5a16-9330-45a1-9024-1cff1cdb5714	85fe30a5-dc3c-47fc-8e86-33aa839416d4	g.chr4:80247011C>T	ENST00000286794.4	-	1	193	c.21G>A	c.(19-21)caG>caA	p.Q7Q	NAA11_ENST00000513733.1_5'Flank	NM_032693.2	NP_116082.1	Q9BSU3	NAA11_HUMAN	N(alpha)-acetyltransferase 11, NatA catalytic subunit	7	Interaction with NAA15. {ECO:0000250}.|N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				N-terminal protein amino acid acetylation (GO:0006474)	NatA complex (GO:0031415)|nucleus (GO:0005634)	peptide alpha-N-acetyltransferase activity (GO:0004596)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|skin(2)	23						GGTCGTCTGGCTGAGCGTTGC	0.522																																						uc003hlt.3		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(19-21)CAG>CAA		alpha-N-acetyltransferase 1B							74.0	71.0	72.0					4																	80247011		2192	4298	6490	SO:0001819	synonymous_variant	84779					cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity|protein binding	g.chr4:80247011C>T		CCDS47084.1	4q21.23	2010-05-07	2010-01-14	2010-01-14		ENSG00000156269	2.3.1.88	"""N(alpha)-acetyltransferase subunits"""	28125	protein-coding gene	gene with protein product			"""ARD1 homolog B (S. cerevisiae)"""	ARD1B		16638120, 19660095	Standard	NM_032693		Approved	ARD2, hARD2	uc003hlt.4	Q9BSU3		ENST00000286794.4:c.21G>A	4.37:g.80247011C>T							p.Q7Q	NM_032693	NP_116082	Q9BSU3	NAA11_HUMAN			1	161	-			7			Interaction with NAA15 (By similarity).|N-acetyltransferase.		Q66K19|Q6P479	Silent	SNP	ENST00000286794.4	37	c.21G>A	CCDS47084.1																																																																																				0.522	NAA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362922.1			15	25	0	0	0	0	15	25				
EGF	1950	broad.mit.edu	37	4	110915936	110915936	+	Missense_Mutation	SNP	G	G	A	rs201012847		TCGA-CR-6467-01A-11D-1870-08	TCGA-CR-6467-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2a7f5a16-9330-45a1-9024-1cff1cdb5714	85fe30a5-dc3c-47fc-8e86-33aa839416d4	g.chr4:110915936G>A	ENST00000265171.5	+	20	3350	c.2905G>A	c.(2905-2907)Gta>Ata	p.V969I	RNU6-35P_ENST00000384530.1_RNA|EGF_ENST00000503392.1_Missense_Mutation_p.V928I|EGF_ENST00000509793.1_Missense_Mutation_p.V927I	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	969					activation of MAPKK activity (GO:0000186)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|DNA replication (GO:0006260)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mammary gland alveolus development (GO:0060749)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of secretion (GO:0051048)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)|positive regulation of DNA binding (GO:0043388)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of calcium ion import (GO:0090279)|regulation of protein localization to cell surface (GO:2000008)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sucralfate(DB00364)	CCACTATTCCGTAAGAAATAG	0.443													G|||	1	0.000199681	0.0	0.0	5008	,	,		21142	0.001		0.0	False		,,,				2504	0.0					uc003hzy.3		NA																	0				ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4						c.(2905-2907)GTA>ATA		epidermal growth factor precursor	Sulindac(DB00605)						163.0	142.0	149.0					4																	110915936		2203	4300	6503	SO:0001583	missense	1950				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr4:110915936G>A	X04571	CCDS3689.1, CCDS54794.1, CCDS54795.1	4q25	2012-10-02	2010-05-11		ENSG00000138798	ENSG00000138798			3229	protein-coding gene	gene with protein product		131530	"""epidermal growth factor (beta-urogastrone)"""				Standard	NM_001963		Approved		uc003hzy.4	P01133	OTTHUMG00000132044	ENST00000265171.5:c.2905G>A	4.37:g.110915936G>A	ENSP00000265171:p.Val969Ile					EGF_uc011cfu.1_Missense_Mutation_p.V927I|EGF_uc011cfv.1_Missense_Mutation_p.V928I|EGF_uc010imk.2_Missense_Mutation_p.V117I	p.V969I	NM_001963	NP_001954	P01133	EGF_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	20	3357	+		Hepatocellular(203;0.0893)	969			Extracellular (Potential).		B4DRK7|E7EVD2|E9PBF0|Q52LZ6	Missense_Mutation	SNP	ENST00000265171.5	37	c.2905G>A	CCDS3689.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	6.542	0.468217	0.12461	.	.	ENSG00000138798	ENST00000509793;ENST00000265171;ENST00000503392	D;D;D	0.88046	-2.33;-2.23;-2.24	5.35	0.531	0.17108	.	1.034790	0.07584	N	0.920862	T	0.79958	0.4536	L	0.46819	1.47	0.09310	N	1	B;B;B	0.09022	0.001;0.002;0.001	B;B;B	0.06405	0.001;0.002;0.001	T	0.61048	-0.7141	10	0.18710	T	0.47	.	5.2787	0.15663	0.1639:0.0:0.4742:0.3618	.	928;927;969	E7EVD2;P01133-2;P01133	.;.;EGF_HUMAN	I	927;969;928	ENSP00000424316:V927I;ENSP00000265171:V969I;ENSP00000421384:V928I	ENSP00000265171:V969I	V	+	1	0	EGF	111135385	0.000000	0.05858	0.003000	0.11579	0.002000	0.02628	0.110000	0.15437	0.628000	0.30357	-0.136000	0.14681	GTA		0.443	EGF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255065.1			27	47	0	0	0	0	27	47				
NDNF	79625	broad.mit.edu	37	4	121957686	121957686	+	Silent	SNP	G	G	A	rs146653001		TCGA-CR-6467-01A-11D-1870-08	TCGA-CR-6467-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2a7f5a16-9330-45a1-9024-1cff1cdb5714	85fe30a5-dc3c-47fc-8e86-33aa839416d4	g.chr4:121957686G>A	ENST00000379692.4	-	4	1966	c.1440C>T	c.(1438-1440)atC>atT	p.I480I	NDNF_ENST00000506900.1_5'Flank	NM_024574.3	NP_078850.3	Q8TB73	NDNF_HUMAN	neuron-derived neurotrophic factor	480	Fibronectin type-III 2.				cell growth (GO:0016049)|extracellular matrix organization (GO:0030198)|negative regulation of neuron apoptotic process (GO:0043524)|neuron migration (GO:0001764)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of neuron projection development (GO:0010976)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						CTTTTTTGTAGATGCAAAACT	0.433																																						uc003idq.1		NA																	0					0						c.(1438-1440)ATC>ATT		hypothetical protein LOC79625 precursor							143.0	132.0	136.0					4																	121957686		2203	4300	6503	SO:0001819	synonymous_variant	79625							g.chr4:121957686G>A	BC019351	CCDS3717.2	4q27	2011-07-05	2011-07-05	2011-07-05	ENSG00000173376	ENSG00000173376			26256	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 31"""	C4orf31		12975309, 20969804	Standard	NM_024574		Approved	FLJ23191	uc003idq.1	Q8TB73	OTTHUMG00000132973	ENST00000379692.4:c.1440C>T	4.37:g.121957686G>A							p.I480I	NM_024574	NP_078850	Q8TB73	CD031_HUMAN			4	1967	-			480			Fibronectin type-III 2.		A8K0Q0|Q6UWE5|Q9H5P7	Silent	SNP	ENST00000379692.4	37	c.1440C>T	CCDS3717.2																																																																																				0.433	NDNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256532.2	NM_024574		24	67	0	0	0	0	24	67				
TBC1D9	23158	broad.mit.edu	37	4	141583131	141583131	+	Silent	SNP	A	A	T			TCGA-CR-6467-01A-11D-1870-08	TCGA-CR-6467-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2a7f5a16-9330-45a1-9024-1cff1cdb5714	85fe30a5-dc3c-47fc-8e86-33aa839416d4	g.chr4:141583131A>T	ENST00000442267.2	-	10	1793	c.1719T>A	c.(1717-1719)gcT>gcA	p.A573A		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	573	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				CATTCTGAAAAGCTGGGTGTT	0.468																																						uc010ioj.2		NA																	0				ovary(1)	1						c.(1717-1719)GCT>GCA		TBC1 domain family, member 9 (with GRAM domain)							110.0	107.0	108.0					4																	141583131		1885	4115	6000	SO:0001819	synonymous_variant	23158					intracellular	calcium ion binding|Rab GTPase activator activity	g.chr4:141583131A>T	AB020689	CCDS47136.1	4q31.1	2013-01-10	2006-07-12		ENSG00000109436	ENSG00000109436		"""EF-hand domain containing"""	21710	protein-coding gene	gene with protein product			"""TBC1 domain family, member 9"""			12970790	Standard	NM_015130		Approved	KIAA0882, MDR1	uc010ioj.3	Q6ZT07	OTTHUMG00000161405	ENST00000442267.2:c.1719T>A	4.37:g.141583131A>T							p.A573A	NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN			10	1991	-	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)	573			Rab-GAP TBC.		A6H8U8|D3DNZ1|O94958	Silent	SNP	ENST00000442267.2	37	c.1719T>A	CCDS47136.1																																																																																				0.468	TBC1D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364806.1	NM_015130		24	58	0	0	0	0	24	58				
FAM149A	25854	broad.mit.edu	37	4	187074901	187074901	+	Silent	SNP	C	C	T	rs367889202		TCGA-CR-6467-01A-11D-1870-08	TCGA-CR-6467-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2a7f5a16-9330-45a1-9024-1cff1cdb5714	85fe30a5-dc3c-47fc-8e86-33aa839416d4	g.chr4:187074901C>T	ENST00000356371.5	+	5	1062	c.1062C>T	c.(1060-1062)tgC>tgT	p.C354C	FAM149A_ENST00000503432.1_Silent_p.C63C|FAM149A_ENST00000502970.1_Silent_p.C63C|FAM149A_ENST00000514153.1_Silent_p.C63C|FAM149A_ENST00000514829.1_3'UTR|FAM149A_ENST00000227065.4_Silent_p.C63C|FAM149A_ENST00000389354.5_Silent_p.C63C			A5PLN7	F149A_HUMAN	family with sequence similarity 149, member A	354										breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2)	25		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)		TCAGTGCCTGCGGACACAGCA	0.468																																						uc003iyt.3		NA																	0				breast(1)	1						c.(187-189)TGC>TGT		hypothetical protein LOC25854							110.0	120.0	116.0					4																	187074901		2203	4300	6503	SO:0001819	synonymous_variant	25854							g.chr4:187074901C>T	AK057166	CCDS34117.1	4q35.1	2012-04-19			ENSG00000109794	ENSG00000109794			24527	protein-coding gene	gene with protein product							Standard	NM_015398		Approved	DKFZP564J102, MST119, MSTP119	uc010isl.3	A5PLN7	OTTHUMG00000160565	ENST00000356371.5:c.1062C>T	4.37:g.187074901C>T						FAM149A_uc011cla.1_Silent_p.C63C|FAM149A_uc010isj.2_Silent_p.C63C|FAM149A_uc010isk.2_RNA|FAM149A_uc003iyu.3_Silent_p.C63C|FAM149A_uc010isl.2_Silent_p.C63C|FAM149A_uc011clb.1_Silent_p.C63C	p.C63C	NM_015398	NP_056213	A5PLN7	F149A_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)	5	768	+		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)	354					B5MDB8|Q2TAN6|Q7Z2S5|Q9Y4T9	Silent	SNP	ENST00000356371.5	37	c.189C>T																																																																																					0.468	FAM149A-201	KNOWN	basic	protein_coding	protein_coding		NM_001006655		4	174	0	0	0	0	4	174				
GPR98	84059	broad.mit.edu	37	5	89943471	89943471	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6467-01A-11D-1870-08	TCGA-CR-6467-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2a7f5a16-9330-45a1-9024-1cff1cdb5714	85fe30a5-dc3c-47fc-8e86-33aa839416d4	g.chr5:89943471C>T	ENST00000405460.2	+	17	3275	c.3179C>T	c.(3178-3180)aCg>aTg	p.T1060M		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1060	Calx-beta 8. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AAAGGAGAAACGCTCATTTTT	0.413																																						uc003kju.2		NA																	0				ovary(11)|central_nervous_system(3)|pancreas(2)	16						c.(3178-3180)ACG>ATG		G protein-coupled receptor 98 precursor							165.0	156.0	159.0					5																	89943471		1893	4109	6002	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:89943471C>T	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.3179C>T	5.37:g.89943471C>T	ENSP00000384582:p.Thr1060Met					GPR98_uc003kjt.2_Translation_Start_Site	p.T1060M	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	17	3275	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	1060			Calx-beta 8.|Extracellular (Potential).		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.3179C>T	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	C	1.350	-0.591552	0.03799	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043	T	0.34072	1.38	5.49	-0.422	0.12329	Na-Ca exchanger/integrin-beta4 (2);	0.879339	0.10280	N	0.693683	T	0.22666	0.0547	L	0.35793	1.09	0.09310	N	1	B	0.29552	0.248	B	0.18263	0.021	T	0.16988	-1.0384	10	0.23891	T	0.37	.	7.4862	0.27435	0.0:0.3201:0.1183:0.5616	.	1060	Q8WXG9	GPR98_HUMAN	M	1060	ENSP00000384582:T1060M	ENSP00000296619:T1060M	T	+	2	0	GPR98	89979227	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	0.774000	0.26675	-0.333000	0.08476	-0.813000	0.03139	ACG		0.413	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		33	139	0	0	0	0	33	139				
TCERG1	10915	broad.mit.edu	37	5	145851099	145851099	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6467-01A-11D-1870-08	TCGA-CR-6467-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2a7f5a16-9330-45a1-9024-1cff1cdb5714	85fe30a5-dc3c-47fc-8e86-33aa839416d4	g.chr5:145851099G>A	ENST00000296702.5	+	9	1599	c.1561G>A	c.(1561-1563)Gca>Aca	p.A521T	TCERG1_ENST00000394421.2_Missense_Mutation_p.A500T	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	521					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGCCCAGAAGGCAAAGCCAGT	0.388																																						uc003lob.2		NA																	0				ovary(1)|skin(1)	2						c.(1561-1563)GCA>ACA		transcription elongation regulator 1 isoform 1							116.0	120.0	119.0					5																	145851099		2203	4300	6503	SO:0001583	missense	10915				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity	g.chr5:145851099G>A	AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649			15630	protein-coding gene	gene with protein product	"""transcription factor CA150"", ""co-activator of 150 kDa"", ""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"", ""TATA box-binding protein-associated factor 2S"""	605409	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"""	TAF2S		9315662, 11003711	Standard	XM_005268365		Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.1561G>A	5.37:g.145851099G>A	ENSP00000296702:p.Ala521Thr					TCERG1_uc003loc.2_Missense_Mutation_p.A500T|TCERG1_uc011dbt.1_Missense_Mutation_p.A500T	p.A521T	NM_006706	NP_006697	O14776	TCRG1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		9	1601	+		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	521					Q2NKN2|Q59EA1	Missense_Mutation	SNP	ENST00000296702.5	37	c.1561G>A	CCDS4282.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.023507	0.93462	.	.	ENSG00000113649	ENST00000296702;ENST00000394421	T;T	0.35973	1.52;1.28	5.78	5.78	0.91487	.	0.051186	0.85682	D	0.000000	T	0.30978	0.0782	L	0.33668	1.02	0.80722	D	1	P;B;P	0.47409	0.865;0.216;0.895	B;B;B	0.41202	0.35;0.171;0.281	T	0.03148	-1.1067	10	0.13853	T	0.58	-20.9206	20.0143	0.97474	0.0:0.0:1.0:0.0	.	500;500;521	B7Z921;O14776-2;O14776	.;.;TCRG1_HUMAN	T	521;500	ENSP00000296702:A521T;ENSP00000377943:A500T	ENSP00000296702:A521T	A	+	1	0	TCERG1	145831292	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	9.630000	0.98420	2.740000	0.93945	0.313000	0.20887	GCA		0.388	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251886.1	NM_001040006		74	67	0	0	0	0	74	67				
PPP1R10	5514	broad.mit.edu	37	6	30571952	30571952	+	Silent	SNP	C	C	T			TCGA-CR-6467-01A-11D-1870-08	TCGA-CR-6467-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2a7f5a16-9330-45a1-9024-1cff1cdb5714	85fe30a5-dc3c-47fc-8e86-33aa839416d4	g.chr6:30571952C>T	ENST00000376511.2	-	14	1893	c.1341G>A	c.(1339-1341)gcG>gcA	p.A447A		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	447	Essential for PPP1CA inhibition. {ECO:0000250}.|Interaction with WDR82. {ECO:0000250}.				protein import into nucleus (GO:0006606)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein phosphatase inhibitor activity (GO:0004864)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						TCAGACGCCGCGCTGTCTCAA	0.552																																						uc003nqn.1		NA																	0				ovary(2)|lung(1)|kidney(1)	4						c.(1339-1341)GCG>GCA		protein phosphatase 1, regulatory subunit 10							95.0	99.0	98.0					6																	30571952		2203	4300	6503	SO:0001819	synonymous_variant	5514				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding	g.chr6:30571952C>T	Y13247	CCDS4681.1	6p21.3	2012-04-17	2011-10-04		ENSG00000204569	ENSG00000204569		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9284	protein-coding gene	gene with protein product	"""phosphatase 1 nuclear targeting subunit"", ""HLA-C associated transcript 53"""	603771	"""protein phosphatase 1, regulatory (inhibitor) subunit 10"""			9461602, 9784381	Standard	NM_002714		Approved	PNUTS, FB19, CAT53, p99	uc003nqn.2	Q96QC0	OTTHUMG00000031259	ENST00000376511.2:c.1341G>A	6.37:g.30571952C>T						PPP1R10_uc010jsc.1_Silent_p.A101A	p.A447A	NM_002714	NP_002705	Q96QC0	PP1RA_HUMAN			14	1893	-			447			Essential for PPP1CA inhibition (By similarity).|Interaction with WDR82 (By similarity).		O00405	Silent	SNP	ENST00000376511.2	37	c.1341G>A	CCDS4681.1																																																																																				0.552	PPP1R10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076556.2	NM_002714		109	45	0	0	0	0	109	45				
SYNE1	23345	broad.mit.edu	37	6	152651634	152651634	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6467-01A-11D-1870-08	TCGA-CR-6467-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2a7f5a16-9330-45a1-9024-1cff1cdb5714	85fe30a5-dc3c-47fc-8e86-33aa839416d4	g.chr6:152651634G>A	ENST00000367255.5	-	78	14787	c.14186C>T	c.(14185-14187)gCg>gTg	p.A4729V	SYNE1_ENST00000448038.1_Missense_Mutation_p.A4658V|SYNE1_ENST00000265368.4_Missense_Mutation_p.A4729V|SYNE1_ENST00000341594.5_Missense_Mutation_p.A4476V|SYNE1_ENST00000423061.1_Missense_Mutation_p.A4658V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4729					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTCATCCACCGCCTCCCCAAG	0.552										HNSCC(10;0.0054)																												uc010kiw.2		NA																	0				central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(14185-14187)GCG>GTG		spectrin repeat containing, nuclear envelope 1							57.0	64.0	62.0					6																	152651634		2203	4299	6502	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152651634G>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.14186C>T	6.37:g.152651634G>A	ENSP00000356224:p.Ala4729Val	HNSCC(10;0.0054)				SYNE1_uc003qot.3_Missense_Mutation_p.A4658V|SYNE1_uc003qou.3_Missense_Mutation_p.A4729V|SYNE1_uc010kiz.2_Missense_Mutation_p.A484V	p.A4729V	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	78	14788	-		Ovarian(120;0.0955)	4729			Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.14186C>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	16.04	3.009455	0.54361	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.50001	0.76;0.76;0.76;0.76;0.76	5.84	5.84	0.93424	.	0.000000	0.64402	D	0.000011	T	0.58949	0.2158	L	0.54323	1.7	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.79784	0.993;0.984;0.984;0.993	T	0.49688	-0.8913	10	0.33940	T	0.23	.	20.1336	0.98010	0.0:0.0:1.0:0.0	.	4729;4729;4729;4658	Q8NF91-7;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	V	4729;4658;4729;4658;4476	ENSP00000356224:A4729V;ENSP00000396024:A4658V;ENSP00000265368:A4729V;ENSP00000390975:A4658V;ENSP00000341887:A4476V	ENSP00000265368:A4729V	A	-	2	0	SYNE1	152693327	1.000000	0.71417	0.323000	0.25347	0.541000	0.35023	9.869000	0.99810	2.767000	0.95098	0.591000	0.81541	GCG		0.552	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		14	42	0	0	0	0	14	42				
EIF2AK1	27102	broad.mit.edu	37	7	6077066	6077066	+	Nonsense_Mutation	SNP	G	G	A	rs180691080		TCGA-CR-6467-01A-11D-1870-08	TCGA-CR-6467-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2a7f5a16-9330-45a1-9024-1cff1cdb5714	85fe30a5-dc3c-47fc-8e86-33aa839416d4	g.chr7:6077066G>A	ENST00000199389.6	-	11	1467	c.1321C>T	c.(1321-1323)Cga>Tga	p.R441*	EIF2AK1_ENST00000536084.1_Nonsense_Mutation_p.R317*	NM_001134335.1|NM_014413.3	NP_001127807.1|NP_055228.2	Q9BQI3	E2AK1_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 1	441	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of cell proliferation (GO:0008285)|negative regulation of hemoglobin biosynthetic process (GO:0046986)|negative regulation of translational initiation by iron (GO:0045993)|protein autophosphorylation (GO:0046777)|protoporphyrinogen IX metabolic process (GO:0046501)|regulation of eIF2 alpha phosphorylation by heme (GO:0010999)|response to external stimulus (GO:0009605)|response to stress (GO:0006950)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|heme binding (GO:0020037)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	27		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)		TTCAGATCTCGGTGCACAATT	0.378																																						uc003spp.2		NA																	0				upper_aerodigestive_tract(1)|stomach(1)|lung(1)|central_nervous_system(1)	4						c.(1321-1323)CGA>TGA		eukaryotic translation initiation factor 2-alpha							200.0	179.0	186.0					7																	6077066		2203	4300	6503	SO:0001587	stop_gained	27102				negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress	cytoplasm	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity	g.chr7:6077066G>A	BC006524	CCDS5345.1	7p22	2005-01-20			ENSG00000086232	ENSG00000086232			24921	protein-coding gene	gene with protein product	"""heme regulated initiation factor 2 alpha kinase"""	613635				7709427, 10718198	Standard	NM_014413		Approved	HRI, KIAA1369	uc003spp.3	Q9BQI3	OTTHUMG00000090689	ENST00000199389.6:c.1321C>T	7.37:g.6077066G>A	ENSP00000199389:p.Arg441*					EIF2AK1_uc003spq.2_Nonsense_Mutation_p.R440*|EIF2AK1_uc011jwm.1_Nonsense_Mutation_p.R317*	p.R441*	NM_014413	NP_055228	Q9BQI3	E2AK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)	11	1467	-		Ovarian(82;0.0423)	441			Protein kinase.		A8K2R2|Q549K6|Q8NBW3|Q9HC02|Q9NYE0|Q9P0V6|Q9P1J5|Q9P2H8|Q9UHG4	Nonsense_Mutation	SNP	ENST00000199389.6	37	c.1321C>T	CCDS5345.1	.	.	.	.	.	.	.	.	.	.	.	40	8.232102	0.98717	.	.	ENSG00000086232	ENST00000199389;ENST00000536084;ENST00000426957	.	.	.	5.89	3.37	0.38596	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-22.8111	12.1921	0.54277	0.0:0.0:0.3753:0.6247	.	.	.	.	X	441;317;68	.	ENSP00000199389:R441X	R	-	1	2	EIF2AK1	6043592	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	2.267000	0.43329	1.053000	0.40415	-0.410000	0.06199	CGA		0.378	EIF2AK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207373.2	NM_014413		32	45	0	0	0	0	32	45				
EEPD1	80820	broad.mit.edu	37	7	36194642	36194642	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6467-01A-11D-1870-08	TCGA-CR-6467-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2a7f5a16-9330-45a1-9024-1cff1cdb5714	85fe30a5-dc3c-47fc-8e86-33aa839416d4	g.chr7:36194642G>A	ENST00000242108.4	+	2	1427	c.709G>A	c.(709-711)Ggg>Agg	p.G237R	EEPD1_ENST00000534978.1_Missense_Mutation_p.G237R	NM_030636.2	NP_085139.2	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family domain containing 1	237					DNA repair (GO:0006281)		DNA binding (GO:0003677)			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						GCCGCCAGGGGGGCCCACCCA	0.662																																						uc003tfa.2		NA																	0					0						c.(709-711)GGG>AGG		endonuclease/exonuclease/phosphatase family							38.0	42.0	40.0					7																	36194642		2203	4300	6503	SO:0001583	missense	80820				DNA repair		DNA binding	g.chr7:36194642G>A	AK027386	CCDS34619.1	7p14.2	2007-12-07	2007-12-07		ENSG00000122547	ENSG00000122547			22223	protein-coding gene	gene with protein product							Standard	NM_030636		Approved	KIAA1706	uc003tfa.3	Q7L9B9	OTTHUMG00000154904	ENST00000242108.4:c.709G>A	7.37:g.36194642G>A	ENSP00000242108:p.Gly237Arg						p.G237R	NM_030636	NP_085139	Q7L9B9	EEPD1_HUMAN			2	1349	+			237					Q96K64|Q9C0F7	Missense_Mutation	SNP	ENST00000242108.4	37	c.709G>A	CCDS34619.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.348731	0.82132	.	.	ENSG00000122547	ENST00000242108;ENST00000534978	T;T	0.24151	1.87;1.87	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.38532	0.1044	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.30446	-0.9978	10	0.87932	D	0	-33.8293	16.7482	0.85478	0.0:0.0:1.0:0.0	.	237	Q7L9B9	EEPD1_HUMAN	R	237	ENSP00000242108:G237R;ENSP00000442692:G237R	ENSP00000242108:G237R	G	+	1	0	EEPD1	36161167	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	9.176000	0.94839	2.628000	0.89032	0.655000	0.94253	GGG		0.662	EEPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337602.1	NM_030636		8	28	0	0	0	0	8	28				
POM121L12	285877	broad.mit.edu	37	7	53103445	53103445	+	Silent	SNP	C	C	T	rs201720958		TCGA-CR-6467-01A-11D-1870-08	TCGA-CR-6467-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2a7f5a16-9330-45a1-9024-1cff1cdb5714	85fe30a5-dc3c-47fc-8e86-33aa839416d4	g.chr7:53103445C>T	ENST00000408890.4	+	1	97	c.81C>T	c.(79-81)gaC>gaT	p.D27D		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	27										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						AAGGCCCCGACGCCCTGGCGG	0.701																																						uc003tpz.2		NA																	0					0						c.(79-81)GAC>GAT		POM121 membrane glycoprotein-like 12		C		0,4070		0,0,2035	17.0	23.0	21.0		81	-0.8	0.0	7		21	1,8331		0,1,4165	no	coding-synonymous	POM121L12	NM_182595.3		0,1,6200	TT,TC,CC		0.012,0.0,0.0081		27/297	53103445	1,12401	2035	4166	6201	SO:0001819	synonymous_variant	285877							g.chr7:53103445C>T		CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"""POM121 membrane glycoprotein-like 12"""				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.81C>T	7.37:g.53103445C>T							p.D27D	NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN			1	97	+			27					Q8NDI9	Silent	SNP	ENST00000408890.4	37	c.81C>T	CCDS43584.1																																																																																				0.701	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	NM_182595		7	13	0	0	0	0	7	13				
XPO7	23039	broad.mit.edu	37	8	21851879	21851879	+	Silent	SNP	T	T	A			TCGA-CR-6467-01A-11D-1870-08	TCGA-CR-6467-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2a7f5a16-9330-45a1-9024-1cff1cdb5714	85fe30a5-dc3c-47fc-8e86-33aa839416d4	g.chr8:21851879T>A	ENST00000252512.9	+	20	2254	c.2154T>A	c.(2152-2154)acT>acA	p.T718T	XPO7_ENST00000433566.4_Silent_p.T719T|XPO7_ENST00000434536.1_Silent_p.T727T	NM_015024.4	NP_055839.3	Q9UIA9	XPO7_HUMAN	exportin 7	718					mRNA transport (GO:0051028)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	nuclear export signal receptor activity (GO:0005049)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		TACAGCGAACTCTAGTTGGCC	0.388																																						uc003xaa.3		NA																	0				ovary(1)|kidney(1)|breast(1)|central_nervous_system(1)|pancreas(1)	5						c.(2152-2154)ACT>ACA		exportin 7 isoform b							111.0	98.0	102.0					8																	21851879		1901	4112	6013	SO:0001819	synonymous_variant	23039				mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity	g.chr8:21851879T>A	AF064729	CCDS47818.1	8p21	2011-04-13	2003-03-11	2003-03-14	ENSG00000130227	ENSG00000130227		"""Exportins"""	14108	protein-coding gene	gene with protein product		606140	"""RAN binding protein 16"""	RANBP16		11024021, 9872452	Standard	NM_015024		Approved	KIAA0745	uc003xaa.4	Q9UIA9	OTTHUMG00000163789	ENST00000252512.9:c.2154T>A	8.37:g.21851879T>A						XPO7_uc010lti.2_Silent_p.T727T|XPO7_uc010ltk.2_Silent_p.T719T	p.T718T	NM_015024	NP_055839	Q9UIA9	XPO7_HUMAN		Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)	20	2256	+			718					O94846|Q6PJK9|Q8NEK7	Silent	SNP	ENST00000252512.9	37	c.2154T>A	CCDS47818.1																																																																																				0.388	XPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375494.1	NM_015024		18	35	0	0	0	0	18	35				
ASH2L	9070	broad.mit.edu	37	8	37986388	37986388	+	Silent	SNP	G	G	A			TCGA-CR-6467-01A-11D-1870-08	TCGA-CR-6467-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2a7f5a16-9330-45a1-9024-1cff1cdb5714	85fe30a5-dc3c-47fc-8e86-33aa839416d4	g.chr8:37986388G>A	ENST00000343823.6	+	12	1755	c.1446G>A	c.(1444-1446)caG>caA	p.Q482Q	ASH2L_ENST00000521652.1_Silent_p.Q388Q|ASH2L_ENST00000428278.2_Silent_p.Q388Q|ASH2L_ENST00000545394.1_Silent_p.Q343Q|ASH2L_ENST00000250635.7_Silent_p.Q388Q	NM_004674.4	NP_004665.2	Q9UBL3	ASH2L_HUMAN	ash2 (absent, small, or homeotic)-like (Drosophila)	482	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				cellular response to DNA damage stimulus (GO:0006974)|hemopoiesis (GO:0030097)|histone H3-K4 methylation (GO:0051568)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)	19	Colorectal(12;0.000501)	Lung NSC(58;0.0295)|all_lung(54;0.0413)				GCTATGGACAGGGAGACGTCC	0.443																																						uc003xkt.3		NA																	0				ovary(1)|lung(1)	2						c.(1444-1446)CAG>CAA		ash2-like isoform a							232.0	241.0	238.0					8																	37986388		2203	4300	6503	SO:0001819	synonymous_variant	9070				hemopoiesis|histone H3-K4 methylation|positive regulation of cell proliferation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription from RNA polymerase II promoter	Set1C/COMPASS complex	metal ion binding|protein binding|transcription regulatory region DNA binding	g.chr8:37986388G>A	AF056717	CCDS6101.1, CCDS47840.1, CCDS59100.1, CCDS64872.1	8p11.2	2013-01-28	2001-11-28		ENSG00000129691	ENSG00000129691		"""Zinc fingers, PHD-type"""	744	protein-coding gene	gene with protein product		604782	"""ash2 (absent, small, or homeotic, Drosophila, homolog)-like"""	ASH2L1		10393421	Standard	NM_004674		Approved	ASH2L2, ASH2, Bre2	uc003xkt.5	Q9UBL3	OTTHUMG00000164016	ENST00000343823.6:c.1446G>A	8.37:g.37986388G>A						ASH2L_uc011lbk.1_Silent_p.Q343Q|ASH2L_uc003xku.3_Silent_p.Q388Q|ASH2L_uc010lwa.2_Silent_p.Q388Q	p.Q482Q	NM_004674	NP_004665	Q9UBL3	ASH2L_HUMAN			12	1504	+	Colorectal(12;0.000501)	Lung NSC(58;0.0295)|all_lung(54;0.0413)	482			B30.2/SPRY.		A8K7C3|D3DSW9|O60659|O60660|Q96B62	Silent	SNP	ENST00000343823.6	37	c.1446G>A	CCDS6101.1	.	.	.	.	.	.	.	.	.	.	G	6.846	0.525302	0.13066	.	.	ENSG00000129691	ENST00000524247	.	.	.	5.63	0.705	0.18127	.	.	.	.	.	T	0.58148	0.2102	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53330	-0.8454	4	.	.	.	.	10.0718	0.42337	0.4128:0.0:0.5872:0.0	.	.	.	.	R	78	.	.	G	+	1	0	ASH2L	38105545	1.000000	0.71417	1.000000	0.80357	0.718000	0.41266	1.237000	0.32695	0.330000	0.23485	-0.350000	0.07774	GGG		0.443	ASH2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376749.4	NM_004674		108	487	0	0	0	0	108	487				
PDE7A	5150	broad.mit.edu	37	8	66695027	66695027	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6467-01A-11D-1870-08	TCGA-CR-6467-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2a7f5a16-9330-45a1-9024-1cff1cdb5714	85fe30a5-dc3c-47fc-8e86-33aa839416d4	g.chr8:66695027G>A	ENST00000401827.3	-	2	633	c.190C>T	c.(190-192)Cgt>Tgt	p.R64C	PDE7A_ENST00000396642.3_Missense_Mutation_p.R64C|PDE7A_ENST00000379419.4_Missense_Mutation_p.R38C	NM_001242318.2	NP_001229247.1	Q13946	PDE7A_HUMAN	phosphodiesterase 7A	64					cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872)			large_intestine(5)|lung(3)|stomach(1)|urinary_tract(1)	10			Epithelial(68;0.0509)|BRCA - Breast invasive adenocarcinoma(89;0.111)|all cancers(69;0.168)|OV - Ovarian serous cystadenocarcinoma(28;0.238)		Caffeine(DB00201)|Dyphylline(DB00651)|Ketotifen(DB00920)	CCTAGCATACGAATGTATAAT	0.284																																						uc003xvq.2		NA																	0					0						c.(190-192)CGT>TGT		phosphodiesterase 7A isoform b	Dyphylline(DB00651)|Ketotifen(DB00920)						44.0	44.0	44.0					8																	66695027		2203	4298	6501	SO:0001583	missense	5150					cell fraction|cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr8:66695027G>A	L12052	CCDS34901.1, CCDS56538.1	8q13	2008-03-18				ENSG00000205268	3.1.4.17	"""Phosphodiesterases"""	8791	protein-coding gene	gene with protein product		171885				8389765, 9521885	Standard	NM_001242318		Approved	HCP1	uc003xvq.3	Q13946		ENST00000401827.3:c.190C>T	8.37:g.66695027G>A	ENSP00000385632:p.Arg64Cys					PDE7A_uc003xvr.2_Missense_Mutation_p.R64C|PDE7A_uc003xvp.2_Missense_Mutation_p.R38C	p.R64C	NM_002604	NP_002595	Q13946	PDE7A_HUMAN	Epithelial(68;0.0509)|BRCA - Breast invasive adenocarcinoma(89;0.111)|all cancers(69;0.168)|OV - Ovarian serous cystadenocarcinoma(28;0.238)		2	202	-			64					A0AVH6|A8K436|A8K9G5|O15380|Q96T72	Missense_Mutation	SNP	ENST00000401827.3	37	c.190C>T	CCDS56538.1	.	.	.	.	.	.	.	.	.	.	G	16.22	3.060626	0.55432	.	.	ENSG00000205268	ENST00000401827;ENST00000379419;ENST00000396642;ENST00000523253	T;T;T;T	0.78481	-1.18;-0.58;-1.18;0.82	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.81269	0.4787	L	0.47716	1.5	0.80722	D	1	D;B;D	0.69078	0.996;0.017;0.997	P;B;P	0.54100	0.736;0.004;0.742	T	0.81373	-0.0962	10	0.48119	T	0.1	.	18.256	0.90020	0.0:0.0:1.0:0.0	.	64;64;38	Q13946-3;Q13946;Q13946-2	.;PDE7A_HUMAN;.	C	64;38;64;38	ENSP00000385632:R64C;ENSP00000368730:R38C;ENSP00000379881:R64C;ENSP00000430262:R38C	ENSP00000368730:R38C	R	-	1	0	PDE7A	66857581	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.033000	0.88852	2.610000	0.88304	0.555000	0.69702	CGT		0.284	PDE7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378905.1			11	15	0	0	0	0	11	15				
ZHX2	22882	broad.mit.edu	37	8	123966105	123966105	+	Silent	SNP	C	C	T			TCGA-CR-6467-01A-11D-1870-08	TCGA-CR-6467-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2a7f5a16-9330-45a1-9024-1cff1cdb5714	85fe30a5-dc3c-47fc-8e86-33aa839416d4	g.chr8:123966105C>T	ENST00000314393.4	+	3	3190	c.2355C>T	c.(2353-2355)aaC>aaT	p.N785N		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	785					mRNA catabolic process (GO:0006402)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			GCGACGAGAACGAGGAGTCGA	0.612																																					Esophageal Squamous(94;1056 1388 11767 13799 49639)	uc003ypk.1		NA																	0				ovary(1)|skin(1)	2						c.(2353-2355)AAC>AAT		zinc fingers and homeoboxes 2							99.0	89.0	93.0					8																	123966105		2203	4300	6503	SO:0001819	synonymous_variant	22882					cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:123966105C>T	AB020661	CCDS6336.1	8q24.13	2012-03-09	2004-01-23		ENSG00000178764	ENSG00000178764		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	18513	protein-coding gene	gene with protein product		609185	"""zinc-fingers and homeoboxes 2"""			10048485, 12741956	Standard	XM_005250837		Approved	KIAA0854	uc003ypk.1	Q9Y6X8	OTTHUMG00000165077	ENST00000314393.4:c.2355C>T	8.37:g.123966105C>T							p.N785N	NM_014943	NP_055758	Q9Y6X8	ZHX2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		3	2922	+	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		785						Silent	SNP	ENST00000314393.4	37	c.2355C>T	CCDS6336.1																																																																																				0.612	ZHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381709.1	NM_014943		9	31	0	0	0	0	9	31				
SLC24A2	25769	broad.mit.edu	37	9	19619581	19619581	+	Splice_Site	SNP	C	C	T			TCGA-CR-6467-01A-11D-1870-08	TCGA-CR-6467-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2a7f5a16-9330-45a1-9024-1cff1cdb5714	85fe30a5-dc3c-47fc-8e86-33aa839416d4	g.chr9:19619581C>T	ENST00000341998.2	-	3	1140		c.e3+1		SLC24A2_ENST00000286344.3_Splice_Site	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2						cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)	cadmium ion binding (GO:0046870)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium, potassium:sodium antiporter activity (GO:0008273)|manganese ion binding (GO:0030145)|nickel cation binding (GO:0016151)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|symporter activity (GO:0015293)			endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		TTGATGTTTACCTTCGGCGAG	0.512																																						uc003zoa.1		NA																	0				ovary(3)	3						c.e3+1		solute carrier family 24							204.0	187.0	193.0					9																	19619581		2203	4300	6503	SO:0001630	splice_region_variant	25769				visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr9:19619581C>T	AF097366	CCDS6493.1, CCDS55297.1	9p22.1	2013-05-22			ENSG00000155886	ENSG00000155886		"""Solute carriers"""	10976	protein-coding gene	gene with protein product		609838				10662833	Standard	NM_020344		Approved	NCKX2	uc003zoa.2	Q9UI40	OTTHUMG00000019646	ENST00000341998.2:c.1078+1G>A	9.37:g.19619581C>T						SLC24A2_uc003zob.1_Splice_Site_p.G360_splice	p.E360_splice	NM_020344	NP_065077	Q9UI40	NCKX2_HUMAN		GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)	3	1140	-								B7ZLL8|Q9NTN5|Q9NZQ4	Splice_Site	SNP	ENST00000341998.2	37	c.1078_splice	CCDS6493.1	.	.	.	.	.	.	.	.	.	.	C	17.70	3.453826	0.63290	.	.	ENSG00000155886	ENST00000341998;ENST00000286344	.	.	.	5.8	5.8	0.92144	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6614	0.95875	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC24A2	19609581	1.000000	0.71417	1.000000	0.80357	0.526000	0.34562	7.565000	0.82337	2.740000	0.93945	0.650000	0.86243	.		0.512	SLC24A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051866.2	NM_020344	Intron	46	155	0	0	0	0	46	155				
RPP25L	138716	broad.mit.edu	37	9	34610878	34610878	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6467-01A-11D-1870-08	TCGA-CR-6467-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2a7f5a16-9330-45a1-9024-1cff1cdb5714	85fe30a5-dc3c-47fc-8e86-33aa839416d4	g.chr9:34610878G>C	ENST00000297613.4	-	2	696	c.416C>G	c.(415-417)cCc>cGc	p.P139R	DCTN3_ENST00000479399.1_5'Flank|RPP25L_ENST00000378959.4_Missense_Mutation_p.P139R	NM_148179.2	NP_680545.1	Q8N5L8	RP25L_HUMAN	ribonuclease P/MRP 25kDa subunit-like	139						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)										CAGGCCAGGGGGTGCTCCTGG	0.657																																						uc003zuu.2		NA																	0					0						c.(415-417)CCC>CGC		hypothetical protein LOC138716							39.0	45.0	43.0					9																	34610878		2202	4299	6501	SO:0001583	missense	138716						nucleic acid binding	g.chr9:34610878G>C	BC032136	CCDS6559.1	9p11.2	2012-03-06	2012-03-06	2012-03-06	ENSG00000164967	ENSG00000164967			19909	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 23"""	C9orf23		16998185	Standard	NM_148178		Approved	bA296L22.5, MGC29635	uc003zuv.3	Q8N5L8	OTTHUMG00000000443	ENST00000297613.4:c.416C>G	9.37:g.34610878G>C	ENSP00000297613:p.Pro139Arg					C9orf23_uc003zuv.2_Missense_Mutation_p.P139R	p.P139R	NM_148179	NP_680545	Q8N5L8	CI023_HUMAN	STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.0385)	2	697	-	all_epithelial(49;0.0863)		139					D3DRM5	Missense_Mutation	SNP	ENST00000297613.4	37	c.416C>G	CCDS6559.1	.	.	.	.	.	.	.	.	.	.	G	14.70	2.613436	0.46631	.	.	ENSG00000164967	ENST00000378959;ENST00000297613	.	.	.	4.72	4.72	0.59763	.	0.415892	0.27100	N	0.020926	T	0.47469	0.1447	N	0.08118	0	0.39938	D	0.974379	D	0.62365	0.991	P	0.58013	0.831	T	0.49735	-0.8908	9	0.24483	T	0.36	-18.5407	16.4531	0.83998	0.0:0.0:1.0:0.0	.	139	Q8N5L8	CI023_HUMAN	R	139	.	ENSP00000297613:P139R	P	-	2	0	C9orf23	34600878	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.102000	0.57776	2.448000	0.82819	0.643000	0.83706	CCC		0.657	RPP25L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001130.1	NM_148179		26	65	0	0	0	0	26	65				
MAPKAP1	79109	broad.mit.edu	37	9	128347842	128347842	+	Silent	SNP	C	C	T	rs374415747		TCGA-CR-6467-01A-11D-1870-08	TCGA-CR-6467-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2a7f5a16-9330-45a1-9024-1cff1cdb5714	85fe30a5-dc3c-47fc-8e86-33aa839416d4	g.chr9:128347842C>T	ENST00000373498.1	-	4	731	c.663G>A	c.(661-663)ccG>ccA	p.P221P	MAPKAP1_ENST00000373497.5_Silent_p.P29P|MAPKAP1_ENST00000265960.3_Silent_p.P221P|MAPKAP1_ENST00000373511.2_Silent_p.P221P|MAPKAP1_ENST00000350766.3_Silent_p.P221P|MAPKAP1_ENST00000373503.3_Silent_p.P29P|MAPKAP1_ENST00000394063.1_Silent_p.P29P|MAPKAP1_ENST00000394060.3_Silent_p.P221P			Q9BPZ7	SIN1_HUMAN	mitogen-activated protein kinase associated protein 1	221	Interaction with NBN.				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)|negative regulation of Ras protein signal transduction (GO:0046580)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|substantia nigra development (GO:0021762)|T cell costimulation (GO:0031295)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein kinase binding (GO:0019901)|Ras GTPase binding (GO:0017016)	p.P221P(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(3)	23						ACTTGAGCTTCGGCTCCCGTC	0.532																																						uc004bpv.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(2)	4						c.(661-663)CCG>CCA		mitogen-activated protein kinase associated		C	,,,,,	0,4406		0,0,2203	114.0	98.0	103.0		663,663,663,87,87,663	0.4	1.0	9		103	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	MAPKAP1	NM_001006617.1,NM_001006618.1,NM_001006619.1,NM_001006620.1,NM_001006621.1,NM_024117.3	,,,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,,,	221/523,221/324,221/476,29/331,29/331,221/487	128347842	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	79109				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|response to stress|T cell costimulation	cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	Ras GTPase binding	g.chr9:128347842C>T	M37191	CCDS6864.1, CCDS35139.1, CCDS35140.1, CCDS35141.1, CCDS48020.1	9q34.11	2008-02-05			ENSG00000119487	ENSG00000119487			18752	protein-coding gene	gene with protein product	"""stress-activated protein kinase-interacting 1"""	610558				15363842	Standard	NM_001006620		Approved	MGC2745, SIN1, MIP1	uc004bpv.3	Q9BPZ7	OTTHUMG00000020683	ENST00000373498.1:c.663G>A	9.37:g.128347842C>T						MAPKAP1_uc011lzt.1_Silent_p.P24P|MAPKAP1_uc010mwz.2_RNA|MAPKAP1_uc011lzu.1_Silent_p.P24P|MAPKAP1_uc011lzv.1_Silent_p.P24P|MAPKAP1_uc004bpw.2_Silent_p.P29P|MAPKAP1_uc004bpx.2_Silent_p.P29P|MAPKAP1_uc004bpy.2_Silent_p.P221P|MAPKAP1_uc004bpz.2_Silent_p.P221P|MAPKAP1_uc010mxa.2_RNA|MAPKAP1_uc010mxb.1_Silent_p.P24P|MAPKAP1_uc004bqa.2_Silent_p.P221P|MAPKAP1_uc010mxc.1_Silent_p.P93P	p.P221P	NM_001006617	NP_001006618	Q9BPZ7	SIN1_HUMAN			5	996	-			221					A8K1Z5|B1AMA4|B7Z309|Q00426|Q5JSV5|Q5JSV6|Q5JSV9|Q658R0|Q699U1|Q699U2|Q699U3|Q699U4|Q6GVJ0|Q6GVJ1|Q6GVJ2	Silent	SNP	ENST00000373498.1	37	c.663G>A	CCDS35140.1																																																																																				0.532	MAPKAP1-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054092.1			26	111	0	0	0	0	26	111				
PRRC2B	84726	broad.mit.edu	37	9	134367624	134367624	+	Silent	SNP	C	C	T			TCGA-CR-6467-01A-11D-1870-08	TCGA-CR-6467-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2a7f5a16-9330-45a1-9024-1cff1cdb5714	85fe30a5-dc3c-47fc-8e86-33aa839416d4	g.chr9:134367624C>T	ENST00000357304.4	+	29	6505	c.6450C>T	c.(6448-6450)ccC>ccT	p.P2150P	PRRC2B_ENST00000465931.1_3'UTR|SNORD62B_ENST00000426867.1_RNA|PRRC2B_ENST00000372249.1_Silent_p.P247P|PRRC2B_ENST00000458550.1_Silent_p.P1456P|PRRC2B_ENST00000405995.1_Silent_p.P1456P	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	2150							poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						CAGGAGGCCCCGTGCCATCGC	0.552																																						uc004can.3		NA																	0					0						c.(6448-6450)CCC>CCT		HLA-B associated transcript 2-like							83.0	83.0	83.0					9																	134367624		2012	4178	6190	SO:0001819	synonymous_variant	84726						protein binding	g.chr9:134367624C>T	AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"""KIAA0515"", ""HLA-B associated transcript 2-like"", ""HLA-B associated transcript 2-like 1"""	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.6450C>T	9.37:g.134367624C>T						BAT2L1_uc004cao.3_Silent_p.P1507P|BAT2L1_uc004cap.3_Silent_p.P296P|BAT2L1_uc011mch.1_Silent_p.P73P	p.P2150P	NM_013318	NP_037450	Q5JSZ5	PRC2B_HUMAN			29	6505	+			2150					O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Silent	SNP	ENST00000357304.4	37	c.6450C>T	CCDS48044.1	.	.	.	.	.	.	.	.	.	.	C	0.072	-1.199814	0.01581	.	.	ENSG00000130723	ENST00000320547	.	.	.	5.08	-7.28	0.01456	.	.	.	.	.	T	0.47875	0.1469	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	T	0.52320	-0.8591	4	.	.	.	-1.8191	8.3629	0.32369	0.1808:0.2212:0.0:0.598	.	.	.	.	C	157	.	.	R	+	1	0	PRRC2B	133357445	0.000000	0.05858	0.001000	0.08648	0.013000	0.08279	-1.182000	0.03082	-1.511000	0.01794	-1.640000	0.00773	CGT		0.552	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				15	88	0	0	0	0	15	88				
EPN2	22905	broad.mit.edu	37	17	19232949	19232950	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CR-6467-01A-11D-1870-08	TCGA-CR-6467-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2a7f5a16-9330-45a1-9024-1cff1cdb5714	85fe30a5-dc3c-47fc-8e86-33aa839416d4	g.chr17:19232949_19232950insA	ENST00000314728.5	+	9	1884_1885	c.1400_1401insA	c.(1399-1404)tcaaaafs	p.SK467fs	EPN2_ENST00000395626.1_Frame_Shift_Ins_p.SK467fs|EPN2_ENST00000347697.2_Frame_Shift_Ins_p.SK410fs|EPN2_ENST00000575595.1_Frame_Shift_Ins_p.SK175fs|EPN2_ENST00000395620.2_Frame_Shift_Ins_p.SK410fs|EPN2_ENST00000395618.3_Frame_Shift_Ins_p.SK182fs|EPN2_ENST00000571254.1_Frame_Shift_Ins_p.SK403fs	NM_014964.4	NP_055779.2	O95208	EPN2_HUMAN	epsin 2	467	6 X 3 AA repeats of [DE]-P-W.				embryonic organ development (GO:0048568)|endocytosis (GO:0006897)|in utero embryonic development (GO:0001701)|Notch signaling pathway (GO:0007219)	clathrin coat of endocytic vesicle (GO:0030128)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	lipid binding (GO:0008289)	p.T470fs*19(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	19	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)					CTTCGGACTTCAAAAAAAACAG	0.396																																						uc002gvd.3		NA																	1	Insertion - Frameshift(1)		lung(1)	skin(1)	1						c.(1399-1401)TCAfs		epsin 2 isoform b																																				SO:0001589	frameshift_variant	22905				endocytosis		lipid binding	g.chr17:19232949_19232950insA	AB028988	CCDS11203.1, CCDS11204.1, CCDS42277.1	17p11.2	2012-11-19			ENSG00000072134	ENSG00000072134			18639	protein-coding gene	gene with protein product	"""Eps15 binding protein"""	607263				10567358	Standard	NM_014964		Approved	KIAA1065, EHB21	uc002gvd.4	O95208	OTTHUMG00000178447	ENST00000314728.5:c.1408dupA	17.37:g.19232957_19232957dupA	ENSP00000320543:p.Ser467fs					EPN2_uc010cql.1_Frame_Shift_Ins_p.S176fs|EPN2_uc002gve.3_Frame_Shift_Ins_p.S410fs|EPN2_uc002gvf.3_Frame_Shift_Ins_p.S182fs|EPN2_uc010vyo.1_Frame_Shift_Ins_p.S175fs|EPN2_uc010vyp.1_Frame_Shift_Ins_p.S403fs|EPN2_uc010vyq.1_Frame_Shift_Ins_p.S404fs|EPN2_uc002gvh.1_Frame_Shift_Ins_p.S467fs|EPN2_uc002gvj.3_Frame_Shift_Ins_p.S130fs	p.S467fs	NM_014964	NP_055779	O95208	EPN2_HUMAN			9	1848_1849	+	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)		467			6 X 3 AA repeats of [DE]-P-W.		A8MTV8|B3KRX8|E9PBC2|O95207|Q52LD0|Q9H7Z2|Q9UPT7	Frame_Shift_Ins	INS	ENST00000314728.5	37	c.1400_1401insA	CCDS11203.1																																																																																				0.396	EPN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132283.3	NM_014964		7	139	NA	NA	NA	NA	7	139	---	---	---	---
TBC1D3B	414059	broad.mit.edu	37	17	34499240	34499240	+	Frame_Shift_Del	DEL	C	C	-	rs201633841	byFrequency	TCGA-CR-6467-01A-11D-1870-08	TCGA-CR-6467-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2a7f5a16-9330-45a1-9024-1cff1cdb5714	85fe30a5-dc3c-47fc-8e86-33aa839416d4	g.chr17:34499240delC	ENST00000454519.3	-	7	620	c.471delG	c.(469-471)atgfs	p.M157fs	CTB-91J4.1_ENST00000592460.1_RNA|TBC1D3B_ENST00000398801.3_Frame_Shift_Del_p.M157fs	NM_001001417.5	NP_001001417.5	A6NDS4	TBC3B_HUMAN	TBC1 domain family, member 3B	157	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.					plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)			endometrium(2)|lung(3)|pancreas(1)	6		Breast(25;0.102)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CCCTGAAGAACATATGCTTCC	0.562																																						uc002hky.2		NA																	0					0						c.(469-471)ATGfs		TBC1 domain family, member 3B							78.0	60.0	66.0					17																	34499240		2138	4143	6281	SO:0001589	frameshift_variant	414059					intracellular	Rab GTPase activator activity	g.chr17:34499240delC	AF540953	CCDS42300.1	17q12	2014-09-16				ENSG00000274226			27011	protein-coding gene	gene with protein product		610144	"""TBC1 domain family, member 3I"""	TBC1D3I		12359748, 16863688	Standard	XM_005257980		Approved	PRC17	uc002hky.2	A6NDS4	OTTHUMG00000188417	ENST00000454519.3:c.471delG	17.37:g.34499240delC	ENSP00000390852:p.Met157fs					uc002hla.1_5'Flank|uc002hlc.2_5'Flank	p.M157fs	NM_001001417	NP_001001417	Q8IZP1	TBC3A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	7	621	-		Breast(25;0.102)|Ovarian(249;0.17)	157			Rab-GAP TBC.		A8K892	Frame_Shift_Del	DEL	ENST00000454519.3	37	c.471delG	CCDS42300.1																																																																																				0.562	TBC1D3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256087.3	NM_001001417		48	1435	NA	NA	NA	NA	48	1435	---	---	---	---
HLA-A	3105	broad.mit.edu	37	6	29911160	29911179	+	Frame_Shift_Del	DEL	CCTGCGCTCTTGGACCGCGG	CCTGCGCTCTTGGACCGCGG	-	rs199474536|rs199474529|rs199474528|rs199474527|rs199474526|rs199474525|rs199474530|rs199474531|rs199474532|rs199474533|rs76385482|rs199474534|rs80300804|rs17185854|rs199474535|rs41552413|rs41542714|rs41551213	byFrequency	TCGA-CR-6467-01A-11D-1870-08	TCGA-CR-6467-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2a7f5a16-9330-45a1-9024-1cff1cdb5714	85fe30a5-dc3c-47fc-8e86-33aa839416d4	g.chr6:29911160_29911179delCCTGCGCTCTTGGACCGCGG	ENST00000396634.1	+	5	800_819	c.459_478delCCTGCGCTCTTGGACCGCGG	c.(457-480)gacctgcgctcttggaccgcggcgfs	p.LRSWTAA154fs	HLA-A_ENST00000376806.5_Frame_Shift_Del_p.LRSWTAA154fs|HLA-A_ENST00000376802.2_Frame_Shift_Del_p.LRSWTAA154fs|HLA-A_ENST00000376809.5_Frame_Shift_Del_p.LRSWTAA154fs			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	154	Alpha-2.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)	p.A160fs*15(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TGAACGAGGACCTGCGCTCTTGGACCGCGGCGGACATGGC	0.655									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																												uc003nol.2		NA																	1	Deletion - Frameshift(1)		large_intestine(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(457-480)GACCTGCGCTCTTGGACCGCGGCGfs		major histocompatibility complex, class I, A																																				SO:0001589	frameshift_variant	3105	Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of|Osteosarcoma_Familial_Clustering_of|Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29911160_29911179delCCTGCGCTCTTGGACCGCGG	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.459_478delCCTGCGCTCTTGGACCGCGG	6.37:g.29911160_29911179delCCTGCGCTCTTGGACCGCGG	ENSP00000379873:p.Leu154fs	Multiple Myeloma(9;0.094)				HLA-G_uc011dmb.1_Intron|HCG4P6_uc003nog.1_RNA|HLA-A_uc010jrq.2_Frame_Shift_Del_p.D32fs|HLA-A_uc003nok.2_Frame_Shift_Del_p.D32fs|HLA-A_uc003non.2_Frame_Shift_Del_p.D153fs|HLA-A_uc003noo.2_Frame_Shift_Del_p.D153fs|HLA-A_uc010jrr.2_Frame_Shift_Del_p.D153fs|HLA-A_uc003nom.2_Frame_Shift_Del_p.D32fs|HLA-A_uc010klp.2_Frame_Shift_Del_p.D125fs|HLA-A_uc011dmc.1_Frame_Shift_Del_p.D32fs|HLA-A_uc011dmd.1_Frame_Shift_Del_p.D32fs	p.D153fs	NM_002116	NP_002107	P30443	1A01_HUMAN			3	459_478	+			153_160			Extracellular (Potential).|Alpha-2.		O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Frame_Shift_Del	DEL	ENST00000396634.1	37	c.459_478delCCTGCGCTCTTGGACCGCGG	CCDS34373.1																																																																																				0.655	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116		14	25	NA	NA	NA	NA	14	25	---	---	---	---
TTLL2	83887	broad.mit.edu	37	6	167754366	167754367	+	Frame_Shift_Ins	INS	-	-	T	rs150247166		TCGA-CR-6467-01A-11D-1870-08	TCGA-CR-6467-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2a7f5a16-9330-45a1-9024-1cff1cdb5714	85fe30a5-dc3c-47fc-8e86-33aa839416d4	g.chr6:167754366_167754367insT	ENST00000239587.5	+	3	1066_1067	c.978_979insT	c.(979-981)tttfs	p.F327fs		NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	327	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)		ligase activity (GO:0016874)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		CGCTCAGCAGATTTTTTTCCTA	0.446																																						uc003qvs.1		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(976-981)AGATTTfs		tubulin tyrosine ligase-like family, member 2																																				SO:0001589	frameshift_variant	83887				protein modification process		ATP binding|tubulin-tyrosine ligase activity	g.chr6:167754366_167754367insT	AK093039	CCDS5301.1	6q27	2013-02-14		2004-01-14	ENSG00000120440	ENSG00000120440		"""Tubulin tyrosine ligase-like family"""	21211	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 104"""	C6orf104		11054573	Standard	XM_006715572		Approved	NYD-TSPG, dJ366N23.3	uc003qvs.1	Q9BWV7	OTTHUMG00000016023	ENST00000239587.5:c.985dupT	6.37:g.167754373_167754373dupT	ENSP00000239587:p.Phe327fs					TTLL2_uc011egr.1_RNA	p.R326fs	NM_031949	NP_114155	Q9BWV7	TTLL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)	3	1066_1067	+		Breast(66;7.8e-06)|Ovarian(120;0.024)	326_327			TTL.		B2RB11|B3KS77|Q7Z6R8|Q86X22	Frame_Shift_Ins	INS	ENST00000239587.5	37	c.978_979insT	CCDS5301.1																																																																																				0.446	TTLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043127.3	NM_031949		82	161	NA	NA	NA	NA	82	161	---	---	---	---
