#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_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_tumor_sample
CLCN6	1185	broad.mit.edu	37	1	11867207	11867207	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr1:11867207A>G	ENST00000346436.6	+	2	159	c.107A>G	c.(106-108)cAg>cGg	p.Q36R	MTHFR_ENST00000376590.3_5'Flank|CLCN6_ENST00000376492.3_3'UTR|CLCN6_ENST00000376497.3_Missense_Mutation_p.Q36R|CLCN6_ENST00000312413.6_Missense_Mutation_p.Q36R|CLCN6_ENST00000376496.3_Missense_Mutation_p.Q36R|MTHFR_ENST00000376585.1_5'Flank|CLCN6_ENST00000376487.3_Missense_Mutation_p.Q36R	NM_001286.3	NP_001277	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	36					cell volume homeostasis (GO:0006884)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|response to mechanical stimulus (GO:0009612)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|voltage-gated chloride channel activity (GO:0005247)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		GGAGAAACACAGGAGGAGGAG	0.473																																						uc001ate.3		NaN																	0					0						c.(106-108)CAG>CGG		chloride channel 6 isoform ClC-6a							97.0	89.0	92.0					1																	11867207		2203	4300	6503	SO:0001583	missense	1185				cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	g.chr1:11867207A>G	X83378	CCDS138.1, CCDS57972.1	1p36	2012-09-26	2012-02-23		ENSG00000011021	ENSG00000011021		"""Ion channels / Chloride channels : Voltage-sensitive"""	2024	protein-coding gene	gene with protein product		602726	"""chloride channel 6"""			8543009	Standard	NM_001286		Approved	CLC-6, KIAA0046, ClC-6	uc001ate.5	P51797	OTTHUMG00000002299	ENST00000346436.6:c.107A>G	1.37:g.11867207A>G	ENSP00000234488:p.Gln36Arg					MTHFR_uc001atc.1_5'Flank|MTHFR_uc001atd.1_5'Flank|MTHFR_uc009vnd.1_5'Flank|CLCN6_uc009vne.1_Missense_Mutation_p.Q36R|CLCN6_uc009vnf.1_Missense_Mutation_p.Q36R|CLCN6_uc009vng.1_Missense_Mutation_p.Q36R|CLCN6_uc009vnh.1_Missense_Mutation_p.Q36R|CLCN6_uc010oat.1_5'UTR|CLCN6_uc010oau.1_Missense_Mutation_p.Q36R	p.Q36R	NM_001286	NP_001277	P51797	CLCN6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	2	220	+	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	36			Cytoplasmic (By similarity).		A8K1T4|B4DGT7|F8W9R3|O60818|O60819|O60820|O60821|P78520|P78521|Q17R81|Q5SNW2|Q5SNW3|Q5SNX1|Q5SNX2|Q5SNX3|Q99427|Q99428|Q99429	Missense_Mutation	SNP	ENST00000346436.6	37	c.107A>G	CCDS138.1	.	.	.	.	.	.	.	.	.	.	A	14.63	2.591669	0.46214	.	.	ENSG00000011021	ENST00000312413;ENST00000346436;ENST00000376497;ENST00000376487;ENST00000376496;ENST00000376490;ENST00000376491;ENST00000376492	D;D;T;D;D	0.92099	-2.97;-2.76;-1.02;-2.78;-2.78	4.88	4.88	0.63580	.	0.272209	0.39274	N	0.001417	T	0.76513	0.3998	N	0.00926	-1.1	0.29635	N	0.84519	B;B;B;B;B;B	0.13594	0.0;0.0;0.002;0.008;0.0;0.0	B;B;B;B;B;B	0.11329	0.0;0.001;0.006;0.006;0.001;0.0	T	0.67730	-0.5595	10	0.18710	T	0.47	-12.1046	12.5144	0.56024	1.0:0.0:0.0:0.0	.	36;36;36;36;36;36	F8W9R3;P51797-3;P51797-4;P51797-2;P51797-5;P51797	.;.;.;.;.;CLCN6_HUMAN	R	36	ENSP00000308367:Q36R;ENSP00000234488:Q36R;ENSP00000365680:Q36R;ENSP00000365670:Q36R;ENSP00000365679:Q36R	ENSP00000308367:Q36R	Q	+	2	0	CLCN6	11789794	0.972000	0.33761	1.000000	0.80357	0.991000	0.79684	2.315000	0.43752	1.954000	0.56735	0.460000	0.39030	CAG		0.473	CLCN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006639.2		NM_001286		23	14	0	0	0	0.010818	0	23	14		
ARID1A	8289	broad.mit.edu	37	1	27100375	27100375	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr1:27100375C>T	ENST00000324856.7	+	17	4458	c.4087C>T	c.(4087-4089)Caa>Taa	p.Q1363*	ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q1363*|ARID1A_ENST00000540690.1_5'UTR|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q980*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1363	Gln-rich.				androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TACAATGTATCAACAGCAACA	0.488			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	uc001bmv.1		NaN		Rec	yes		1	1p35.3	8289	Mis|N|F|S|D	AT rich interactive domain 1A (SWI-like)			E			clear cell ovarian carcinoma|RCC		0				ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142						c.(4087-4089)CAA>TAA		AT rich interactive domain 1A isoform a							130.0	135.0	134.0					1																	27100375		2203	4300	6503	SO:0001587	stop_gained	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27100375C>T	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.4087C>T	1.37:g.27100375C>T	ENSP00000320485:p.Gln1363*					ARID1A_uc001bmt.1_Nonsense_Mutation_p.Q1362*|ARID1A_uc001bmu.1_Nonsense_Mutation_p.Q1363*|ARID1A_uc001bmw.1_Nonsense_Mutation_p.Q980*|ARID1A_uc001bmx.1_Nonsense_Mutation_p.Q209*|ARID1A_uc009vsm.1_5'UTR|ARID1A_uc009vsn.1_5'Flank	p.Q1363*	NM_006015	NP_006006	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	17	4460	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	1363			Gln-rich.		D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Nonsense_Mutation	SNP	ENST00000324856.7	37	c.4087C>T	CCDS285.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	42|42	9.611532|9.611532	0.99219|0.99219	.|.	.|.	ENSG00000117713|ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152|ENST00000430799	.|.	.|.	.|.	5.67|5.67	5.67|5.67	0.87782|0.87782	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.76550	.|0.4003	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74512	.|-0.3641	.|4	0.32370|.	T|.	0.25|.	.|.	19.7727|19.7727	0.96373|0.96373	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|L	1363;1363;980|259	.|.	ENSP00000320485:Q1363X|.	Q|S	+|+	1|2	0|0	ARID1A|ARID1A	26972962|26972962	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.933000|0.933000	0.57130|0.57130	4.561000|4.561000	0.60809|0.60809	2.688000|2.688000	0.91661|0.91661	0.655000|0.655000	0.94253|0.94253	CAA|TCA		0.488	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2		NM_139135		121	96	0	0	0	0.01441	0	121	96		
ROR1	4919	broad.mit.edu	37	1	64643579	64643579	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr1:64643579C>T	ENST00000371079.1	+	9	2230	c.1855C>T	c.(1855-1857)Cgc>Tgc	p.R619C	ROR1_ENST00000545203.1_Missense_Mutation_p.R70C	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	619	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				peptidyl-tyrosine phosphorylation (GO:0018108)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						CCTTGCAGCTCGCAATATTTT	0.453																																						uc001dbj.2		NaN																	0				ovary(6)|large_intestine(3)|breast(3)|stomach(2)|lung(2)|central_nervous_system(1)|skin(1)|kidney(1)	19						c.(1855-1857)CGC>TGC		receptor tyrosine kinase-like orphan receptor 1							57.0	61.0	59.0					1																	64643579		2203	4300	6503	SO:0001583	missense	4919				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding	g.chr1:64643579C>T	M97675	CCDS626.1, CCDS41344.1	1p32-p31	2013-01-11			ENSG00000185483	ENSG00000185483		"""Immunoglobulin superfamily / I-set domain containing"""	10256	protein-coding gene	gene with protein product		602336		NTRKR1		1334494, 8875995	Standard	NM_001083592		Approved		uc001dbj.3	Q01973	OTTHUMG00000009022	ENST00000371079.1:c.1855C>T	1.37:g.64643579C>T	ENSP00000360120:p.Arg619Cys					uc001dbm.2_5'Flank	p.R619C	NM_005012	NP_005003	Q01973	ROR1_HUMAN			9	2254	+			619			Cytoplasmic (Potential).|Protein kinase.		Q5VVX6|Q66K77|Q92776	Missense_Mutation	SNP	ENST00000371079.1	37	c.1855C>T	CCDS626.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.386533	0.82902	.	.	ENSG00000185483	ENST00000371079;ENST00000544776;ENST00000545203	D;D	0.87966	-2.32;-2.32	5.97	5.97	0.96955	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.43416	D	0.000575	D	0.96160	0.8748	H	0.96996	3.92	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96667	0.9493	10	0.87932	D	0	.	20.4388	0.99107	0.0:1.0:0.0:0.0	.	619	Q01973	ROR1_HUMAN	C	619;622;70	ENSP00000360120:R619C;ENSP00000441637:R70C	ENSP00000360120:R619C	R	+	1	0	ROR1	64416167	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	3.794000	0.55492	2.836000	0.97738	0.655000	0.94253	CGC		0.453	ROR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025002.1		NM_005012		13	28	0	0	0	0.016723	0	13	28		
ST6GALNAC5	81849	broad.mit.edu	37	1	77510286	77510286	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr1:77510286C>A	ENST00000477717.1	+	3	894	c.659C>A	c.(658-660)aCt>aAt	p.T220N		NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5	220					glycosphingolipid biosynthetic process (GO:0006688)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						AAGCAGGAGACTGGCAAAGAC	0.527																																						uc001dhi.2		NaN																	0				pancreas(1)|skin(1)	2						c.(658-660)ACT>AAT		sialyltransferase 7E							96.0	97.0	97.0					1																	77510286		2203	4297	6500	SO:0001583	missense	81849				protein glycosylation	integral to Golgi membrane	sialyltransferase activity	g.chr1:77510286C>A		CCDS673.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000117069	ENSG00000117069		"""Sialyltransferases"""	19342	protein-coding gene	gene with protein product		610134	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) E"""	SIAT7E		10521438, 10601645	Standard	NM_030965		Approved	MGC3184, ST6GalNAcV	uc001dhi.3	Q9BVH7	OTTHUMG00000009687	ENST00000477717.1:c.659C>A	1.37:g.77510286C>A	ENSP00000417583:p.Thr220Asn					ST6GALNAC5_uc010ori.1_Intron|ST6GALNAC5_uc009wbw.2_RNA	p.T220N	NM_030965	NP_112227	Q9BVH7	SIA7E_HUMAN			3	834	+			220			Lumenal (Potential).		B1AK82	Missense_Mutation	SNP	ENST00000477717.1	37	c.659C>A	CCDS673.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.669429	0.88348	.	.	ENSG00000117069	ENST00000477717;ENST00000438953	T	0.29397	1.57	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.49338	0.1551	M	0.69463	2.115	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	T	0.50775	-0.8788	10	0.66056	D	0.02	-10.6355	19.307	0.94167	0.0:1.0:0.0:0.0	.	220	Q9BVH7	SIA7E_HUMAN	N	220;130	ENSP00000417583:T220N	ENSP00000436263:T220N	T	+	2	0	ST6GALNAC5	77282874	1.000000	0.71417	0.983000	0.44433	0.963000	0.63663	7.709000	0.84645	2.543000	0.85770	0.655000	0.94253	ACT		0.527	ST6GALNAC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026692.2		NM_030965		20	216	1	0	5.35356e-11	0.016522	5.80548e-11	20	216		
IFI44	10561	broad.mit.edu	37	1	79115948	79115948	+	Missense_Mutation	SNP	G	G	A	rs375768898		TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr1:79115948G>A	ENST00000370747.4	+	2	153	c.68G>A	c.(67-69)cGg>cAg	p.R23Q	IFI44_ENST00000545124.1_Intron|IFI44_ENST00000495254.1_Intron	NM_006417.4	NP_006408.3	Q8TCB0	IFI44_HUMAN	interferon-induced protein 44	23					response to virus (GO:0009615)	cytoplasm (GO:0005737)				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21						GGAGGGAAGCGGCTTAGCCTT	0.403																																						uc001dip.3		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(67-69)CGG>CAG		interferon-induced, hepatitis C-associated							139.0	129.0	133.0					1																	79115948		2203	4300	6503	SO:0001583	missense	10561				response to virus	cytoplasm		g.chr1:79115948G>A	D28915	CCDS688.1	1p31.1	2013-03-14			ENSG00000137965	ENSG00000137965			16938	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 5"""	610468				7925411	Standard	NM_006417		Approved	MTAP44, p44, TLDC5	uc001dip.4	Q8TCB0	OTTHUMG00000009723	ENST00000370747.4:c.68G>A	1.37:g.79115948G>A	ENSP00000359783:p.Arg23Gln					IFI44_uc010orr.1_Missense_Mutation_p.R23Q|IFI44_uc010ors.1_Intron	p.R23Q	NM_006417	NP_006408	Q8TCB0	IFI44_HUMAN			2	192	+			23					B7ZAG3|D3DQ80|Q14496	Missense_Mutation	SNP	ENST00000370747.4	37	c.68G>A	CCDS688.1	.	.	.	.	.	.	.	.	.	.	G	0.086	-1.174649	0.01646	.	.	ENSG00000137965	ENST00000370747	T	0.07688	3.17	3.03	-2.43	0.06522	.	1.698740	0.03313	N	0.190815	T	0.01189	0.0039	N	0.12182	0.205	0.09310	N	1	B;B	0.18461	0.028;0.028	B;B	0.06405	0.002;0.002	T	0.45041	-0.9288	10	0.14656	T	0.56	.	7.6912	0.28569	0.4735:0.0:0.5265:0.0	.	23;23	B7ZB11;Q8TCB0	.;IFI44_HUMAN	Q	23	ENSP00000359783:R23Q	ENSP00000359783:R23Q	R	+	2	0	IFI44	78888536	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.052000	0.11865	-0.543000	0.06240	-0.384000	0.06662	CGG		0.403	IFI44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026825.1		NM_006417		19	55	0	0	0	0.012319	0	19	55		
DPYD	1806	broad.mit.edu	37	1	98187182	98187182	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr1:98187182C>A	ENST00000370192.3	-	5	467	c.367G>T	c.(367-369)Ggt>Tgt	p.G123C	DPYD_ENST00000423006.2_Missense_Mutation_p.G86C|DPYD_ENST00000474241.1_5'UTR|DPYD_ENST00000306031.5_Missense_Mutation_p.G123C	NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	123					beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	CAAGTCAGACCAAGTGGGTTG	0.348																																						uc001drv.2		NaN																	0				ovary(3)|skin(3)|breast(2)	8						c.(367-369)GGT>TGT		dihydropyrimidine dehydrogenase isoform 1	Capecitabine(DB01101)|Enfuvirtide(DB00109)						99.0	96.0	97.0					1																	98187182		2203	4299	6502	SO:0001583	missense	1806				'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity	g.chr1:98187182C>A	U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.367G>T	1.37:g.98187182C>A	ENSP00000359211:p.Gly123Cys					DPYD_uc010oub.1_RNA|DPYD_uc001drw.2_Missense_Mutation_p.G123C	p.G123C	NM_000110	NP_000101	Q12882	DPYD_HUMAN		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	5	504	-		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)	123					A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Missense_Mutation	SNP	ENST00000370192.3	37	c.367G>T	CCDS30777.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.837623	0.91117	.	.	ENSG00000188641	ENST00000370192;ENST00000423006;ENST00000306031	T;T;T	0.73047	-0.71;-0.71;-0.71	6.06	6.06	0.98353	Fumarate reductase, C-terminal (1);Alpha-helical ferredoxin (1);	0.000000	0.85682	D	0.000000	D	0.88085	0.6342	M	0.93808	3.46	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88966	0.3397	10	0.59425	D	0.04	-20.0539	20.6397	0.99537	0.0:1.0:0.0:0.0	.	123;123	E9PFN1;Q12882	.;DPYD_HUMAN	C	123;86;123	ENSP00000359211:G123C;ENSP00000398884:G86C;ENSP00000307107:G123C	ENSP00000307107:G123C	G	-	1	0	DPYD	97959770	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.433000	0.80362	2.880000	0.98712	0.650000	0.86243	GGT		0.348	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095698.3		NM_000110		32	51	1	0	4.34086e-07	0.023175	4.58813e-07	32	51		
DENND4B	9909	broad.mit.edu	37	1	153915377	153915377	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr1:153915377G>A	ENST00000361217.4	-	3	965	c.547C>T	c.(547-549)Ccc>Tcc	p.P183S		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	183	MABP. {ECO:0000255|PROSITE- ProRule:PRU00831}.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			AGGTTGCGGGGCAGCCGGCAG	0.632																																						uc001fdd.1		NaN																	0				ovary(1)	1						c.(547-549)CCC>TCC		DENN/MADD domain containing 4B							28.0	33.0	31.0					1																	153915377		2089	4200	6289	SO:0001583	missense	9909							g.chr1:153915377G>A	AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"""DENN/MADD domain containing"""	29044	protein-coding gene	gene with protein product			"""KIAA0476"""	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.547C>T	1.37:g.153915377G>A	ENSP00000354597:p.Pro183Ser						p.P183S	NM_014856	NP_055671	O75064	DEN4B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		3	948	-	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		183			MABP.		Q5T4K0	Missense_Mutation	SNP	ENST00000361217.4	37	c.547C>T	CCDS44228.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.89|12.89	2.072669|2.072669	0.36566|0.36566	.|.	.|.	ENSG00000198837|ENSG00000198837	ENST00000472932|ENST00000361217;ENST00000368646	.|T;T	.|0.05786	.|3.4;3.39	4.54|4.54	4.54|4.54	0.55810|0.55810	.|uDENN (1);MABP domain (1);	.|.	.|.	.|.	.|.	T|T	0.01627|0.01627	0.0052|0.0052	N|N	0.14661|0.14661	0.345|0.345	0.33898|0.33898	D|D	0.638102|0.638102	.|P	.|0.34662	.|0.462	.|B	.|0.28553	.|0.091	T|T	0.49447|0.49447	-0.8939|-0.8939	5|9	.|0.49607	.|T	.|0.09	-8.6906|-8.6906	11.2367|11.2367	0.48944|0.48944	0.0:0.3095:0.6905:0.0|0.0:0.3095:0.6905:0.0	.|.	.|183	.|O75064	.|DEN4B_HUMAN	V|S	88|183;194	.|ENSP00000354597:P183S;ENSP00000357635:P194S	.|ENSP00000354597:P183S	A|P	-|-	2|1	0|0	DENND4B|DENND4B	152182001|152182001	1.000000|1.000000	0.71417|0.71417	0.961000|0.961000	0.40146|0.40146	0.990000|0.990000	0.78478|0.78478	2.495000|2.495000	0.45337|0.45337	2.350000|2.350000	0.79820|0.79820	0.563000|0.563000	0.77884|0.77884	GCC|CCC		0.632	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2		XM_375806		3	43	0	0	0	0.009096	0	3	43		
ELF3	1999	broad.mit.edu	37	1	201983142	201983142	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr1:201983142C>T	ENST00000359651.3	+	7	4183	c.991C>T	c.(991-993)Cgg>Tgg	p.R331W	RP11-510N19.5_ENST00000504773.1_RNA|ELF3_ENST00000367283.3_Missense_Mutation_p.R331W|ELF3_ENST00000367284.5_Missense_Mutation_p.R331W					E74-like factor 3 (ets domain transcription factor, epithelial-specific )											breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						GAAGCTGAGCCGGGCCATGAG	0.607																																						uc001gxg.3		NaN																	0					0						c.(991-993)CGG>TGG		E74-like factor 3 (ets domain transcription							38.0	32.0	34.0					1																	201983142		2203	4300	6503	SO:0001583	missense	1999				epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr1:201983142C>T	AF016295	CCDS1419.1	1q32.2	2008-02-05			ENSG00000163435	ENSG00000163435			3318	protein-coding gene	gene with protein product		602191		ESX		9395241, 9129154	Standard	NM_001114309		Approved	EPR-1, ESE-1, ERT	uc001gxh.4	P78545	OTTHUMG00000035867	ENST00000359651.3:c.991C>T	1.37:g.201983142C>T	ENSP00000352673:p.Arg331Trp					ELF3_uc001gxi.3_Missense_Mutation_p.R331W|ELF3_uc001gxh.3_Missense_Mutation_p.R331W	p.R331W	NM_004433	NP_004424	P78545	ELF3_HUMAN			7	4183	+			331			ETS.			Missense_Mutation	SNP	ENST00000359651.3	37	c.991C>T	CCDS1419.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.112271	0.77210	.	.	ENSG00000163435	ENST00000359651;ENST00000367284;ENST00000367283;ENST00000310044	T;T;T	0.34072	1.38;1.38;1.38	5.91	0.547	0.17202	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (4);	0.000000	0.85682	D	0.000000	T	0.70745	0.3259	H	0.96015	3.755	0.58432	D	0.999999	D	0.65815	0.995	D	0.74674	0.984	T	0.82248	-0.0551	10	0.87932	D	0	.	17.8751	0.88823	0.5847:0.4153:0.0:0.0	.	331	P78545	ELF3_HUMAN	W	331;331;331;308	ENSP00000352673:R331W;ENSP00000356253:R331W;ENSP00000356252:R331W	ENSP00000311348:R308W	R	+	1	2	ELF3	200249765	0.998000	0.40836	0.995000	0.50966	0.998000	0.95712	0.641000	0.24720	-0.140000	0.11394	0.655000	0.94253	CGG		0.607	ELF3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087360.1		NM_004433		13	9	0	0	0	0.024245	0	13	9		
PRSS38	339501	broad.mit.edu	37	1	228005156	228005156	+	Silent	SNP	G	G	A	rs139000968	byFrequency	TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr1:228005156G>A	ENST00000366757.3	+	3	582	c.558G>A	c.(556-558)acG>acA	p.T186T		NM_183062.2	NP_898885.1	A1L453	PRS38_HUMAN	protease, serine, 38	186	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						GCTGGGCTACGGGATGGGGAC	0.527													G|||	4	0.000798722	0.003	0.0	5008	,	,		18971	0.0		0.0	False		,,,				2504	0.0					uc001hrh.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(556-558)ACG>ACA		marapsin 2 precursor		G		1,4405	2.1+/-5.4	0,1,2202	83.0	76.0	79.0		558	-8.7	0.0	1	dbSNP_134	79	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	PRSS38	NM_183062.2		0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231		186/327	228005156	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	339501				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr1:228005156G>A		CCDS1563.1	1q42.13	2010-05-07			ENSG00000185888	ENSG00000185888		"""Serine peptidases / Serine peptidases"""	29625	protein-coding gene	gene with protein product	"""marapsin 2"""					12838346	Standard	NM_183062		Approved	MPN2	uc001hrh.3	A1L453	OTTHUMG00000037701	ENST00000366757.3:c.558G>A	1.37:g.228005156G>A							p.T186T	NM_183062	NP_898885	A1L453	PRS38_HUMAN			3	558	+			186			Peptidase S1.		Q7RTY6	Silent	SNP	ENST00000366757.3	37	c.558G>A	CCDS1563.1																																																																																				0.527	PRSS38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091981.1		NM_183062		12	74	0	0	0	0.020292	0	12	74		
LYST	1130	broad.mit.edu	37	1	235922848	235922848	+	Missense_Mutation	SNP	C	C	T	rs201095810		TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr1:235922848C>T	ENST00000389794.3	-	23	6479	c.6305G>A	c.(6304-6306)cGt>cAt	p.R2102H	LYST_ENST00000536965.1_3'UTR|LYST_ENST00000389793.2_Missense_Mutation_p.R2102H			Q99698	LYST_HUMAN	lysosomal trafficking regulator	2102					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			GCTTCTAGAACGCAGCATATG	0.378																																						uc001hxj.2		NaN																	0				ovary(6)|breast(4)|central_nervous_system(2)	12						c.(6304-6306)CGT>CAT		lysosomal trafficking regulator							61.0	61.0	61.0					1																	235922848		2203	4300	6503	SO:0001583	missense	1130	Chediak-Higashi_syndrome			defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235922848C>T	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.6305G>A	1.37:g.235922848C>T	ENSP00000374444:p.Arg2102His					LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA	p.R2102H	NM_000081	NP_000072	Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		23	6480	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	2102					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	c.6305G>A	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	C	16.69	3.194136	0.58017	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	T;T	0.67171	-0.25;-0.25	5.24	4.32	0.51571	.	2.555310	0.00797	N	0.001390	T	0.61009	0.2313	L	0.38838	1.175	0.80722	D	1	B	0.23591	0.088	B	0.12156	0.007	T	0.53056	-0.8492	10	0.59425	D	0.04	.	9.2217	0.37382	0.1769:0.7435:0.0:0.0796	.	2102	Q99698	LYST_HUMAN	H	2102	ENSP00000374444:R2102H;ENSP00000374443:R2102H	ENSP00000374443:R2102H	R	-	2	0	LYST	233989471	1.000000	0.71417	0.997000	0.53966	0.977000	0.68977	2.482000	0.45224	2.467000	0.83353	0.558000	0.71614	CGT		0.378	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5				14	66	0	0	0	0.00499	0	14	66		
OR2T12	127064	broad.mit.edu	37	1	248458734	248458735	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr1:248458734_248458735CC>AA	ENST00000317996.1	-	1	145_146	c.146_147GG>TT	c.(145-147)tGG>tTT	p.W49F		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	49						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			GCCGGTGGTCCCAGTGAATCAG	0.535																																						uc010pzj.1		NaN																	0				skin(2)|ovary(1)	3						c.(145-147)TGG>TTT		olfactory receptor, family 2, subfamily T,																																				SO:0001583	missense	127064				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248458734_248458735CC>AA	BK004485	CCDS31110.1	1q44	2012-08-09			ENSG00000177201	ENSG00000177201		"""GPCR / Class A : Olfactory receptors"""	19592	protein-coding gene	gene with protein product							Standard	NM_001004692		Approved		uc010pzj.2	Q8NG77	OTTHUMG00000040457	ENST00000317996.1:c.146_147delinsAA	1.37:g.248458734_248458735delinsAA	ENSP00000324583:p.Trp49Phe						p.W49F	NM_001004692	NP_001004692	Q8NG77	O2T12_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0201)		1	146_147	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		49			Cytoplasmic (Potential).			Missense_Mutation	DNP	ENST00000317996.1	37	c.146_147GG>TT	CCDS31110.1																																																																																				0.535	OR2T12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097353.1		NM_001004692		22	33	0	0	0	0.004672	0	22	33		
C10orf2	56652	broad.mit.edu	37	10	102749592	102749592	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr10:102749592G>C	ENST00000311916.2	+	2	1620	c.1435G>C	c.(1435-1437)Gag>Cag	p.E479Q	C10orf2_ENST00000473656.1_3'UTR|MRPL43_ENST00000318325.2_5'Flank|C10orf2_ENST00000370228.1_Missense_Mutation_p.E479Q|MRPL43_ENST00000493646.1_5'Flank|MRPL43_ENST00000318364.8_5'Flank|MRPL43_ENST00000342071.1_5'Flank|MRPL43_ENST00000370236.1_5'Flank|MRPL43_ENST00000370241.3_5'Flank|MRPL43_ENST00000370242.4_5'Flank|MRPL43_ENST00000477279.1_5'Flank|MRPL43_ENST00000370234.4_5'Flank|MRPL43_ENST00000299179.5_5'Flank	NM_001163813.1|NM_021830.4	NP_001157285.1|NP_068602.2	Q96RR1	PEO1_HUMAN	chromosome 10 open reading frame 2	479	SF4 helicase. {ECO:0000255|PROSITE- ProRule:PRU00596}.		E -> K (in PEOA3). {ECO:0000269|PubMed:18575922, ECO:0000269|PubMed:20479361}.		cell death (GO:0008219)|DNA unwinding involved in DNA replication (GO:0006268)|mitochondrial DNA replication (GO:0006264)|protein hexamerization (GO:0034214)|protein homooligomerization (GO:0051260)|transcription from mitochondrial promoter (GO:0006390)	mitochondrial nucleoid (GO:0042645)	5'-3' DNA helicase activity (GO:0043139)|ATP binding (GO:0005524)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1)	24		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)		TGACCGCTTTGAGGACCTGCC	0.532																																						uc001ksf.2		NaN																	0				ovary(1)	1	GRCh37	CM085293	C10orf2	M		c.(1435-1437)GAG>CAG		twinkle isoform A							139.0	140.0	140.0					10																	102749592		2203	4300	6503	SO:0001583	missense	56652				cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter	mitochondrial nucleoid	5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding	g.chr10:102749592G>C	AF292004	CCDS7506.1, CCDS53570.1	10q24	2013-05-13			ENSG00000107815	ENSG00000107815			1160	protein-coding gene	gene with protein product	"""twinkle"", ""T7 helicase-related protein with intramitochondrial nucleoid localization"""	606075	"""infantile onset spinocerebellar ataxia (autosomal recessive)"""	IOSCA		11431692, 10645945, 16135556	Standard	NM_021830		Approved	PEO, PEO1, TWINKLE, FLJ21832, TWINL	uc001ksf.2	Q96RR1	OTTHUMG00000018917	ENST00000311916.2:c.1435G>C	10.37:g.102749592G>C	ENSP00000309595:p.Glu479Gln					MRPL43_uc001kry.1_5'Flank|MRPL43_uc010qpu.1_5'Flank|MRPL43_uc001krz.1_5'Flank|MRPL43_uc001ksa.1_5'Flank|MRPL43_uc001ksb.1_5'Flank|MRPL43_uc001ksd.1_5'Flank|MRPL43_uc001ksc.2_5'Flank|MRPL43_uc001kse.2_5'Flank|C10orf2_uc001ksg.2_Missense_Mutation_p.E479Q|C10orf2_uc001ksi.2_Missense_Mutation_p.E25Q|C10orf2_uc010qpv.1_Missense_Mutation_p.E25Q|C10orf2_uc001ksh.2_RNA	p.E479Q	NM_021830	NP_068602	Q96RR1	PEO1_HUMAN		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)	2	2110	+		Colorectal(252;0.122)|all_hematologic(284;0.152)	479		E -> K (in PEOA3).	SF4 helicase.		B2CQL2|Q6MZX2|Q6PJP5|Q96RR0	Missense_Mutation	SNP	ENST00000311916.2	37	c.1435G>C	CCDS7506.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.231302	0.79688	.	.	ENSG00000107815	ENST00000311916;ENST00000370228	D;D	0.94232	-3.38;-3.38	6.04	6.04	0.98038	Circadian clock protein KaiC/DNA repair protein RadA (1);DNA helicase, DnaB-like, C-terminal (1);	0.045649	0.85682	D	0.000000	D	0.95664	0.8590	M	0.62154	1.92	0.80722	D	1	D;D	0.69078	0.997;0.966	D;P	0.65443	0.935;0.834	D	0.93339	0.6708	10	0.22706	T	0.39	-6.3835	19.1729	0.93588	0.0:0.0:1.0:0.0	.	479;479	Q96RR1-2;Q96RR1	.;PEO1_HUMAN	Q	479	ENSP00000309595:E479Q;ENSP00000359248:E479Q	ENSP00000309595:E479Q	E	+	1	0	C10orf2	102739582	1.000000	0.71417	1.000000	0.80357	0.823000	0.46562	9.835000	0.99442	2.873000	0.98535	0.563000	0.77884	GAG		0.532	C10orf2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049886.1		NM_021830		45	144	0	0	0	0.01441	0	45	144		
SFXN4	119559	broad.mit.edu	37	10	120925084	120925084	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr10:120925084C>A	ENST00000355697.2	-	1	95	c.76G>T	c.(76-78)Gag>Tag	p.E26*	SFXN4_ENST00000461438.1_5'UTR|SFXN4_ENST00000330036.6_Nonsense_Mutation_p.E26*|PRDX3_ENST00000494433.1_5'Flank	NM_213649.1	NP_998814.1	Q6P4A7	SFXN4_HUMAN	sideroflexin 4	26					iron ion homeostasis (GO:0055072)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial inner membrane (GO:0005743)	cation transmembrane transporter activity (GO:0008324)			central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	11		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0261)		ACGTTGGGCTCAATGAAGGCG	0.701																																						uc001leb.2		NaN																	0				ovary(1)	1						c.(76-78)GAG>TAG		sideroflexin 4							50.0	46.0	47.0					10																	120925084		2203	4300	6503	SO:0001587	stop_gained	119559				iron ion homeostasis	integral to membrane|mitochondrial membrane	cation transmembrane transporter activity	g.chr10:120925084C>A		CCDS7610.1	10q26.11	2006-03-13			ENSG00000183605	ENSG00000183605		"""Sideroflexins"""	16088	protein-coding gene	gene with protein product		615564				14756423	Standard	NM_213649		Approved		uc001leb.3	Q6P4A7	OTTHUMG00000019147	ENST00000355697.2:c.76G>T	10.37:g.120925084C>A	ENSP00000347924:p.Glu26*					SFXN4_uc001ldz.2_5'Flank|SFXN4_uc001lea.2_RNA	p.E26*	NM_213649	NP_998814	Q6P4A7	SFXN4_HUMAN		all cancers(201;0.0261)	1	121	-		Lung NSC(174;0.094)|all_lung(145;0.123)	26					Q6WSU4|Q86TD9	Nonsense_Mutation	SNP	ENST00000355697.2	37	c.76G>T	CCDS7610.1	.	.	.	.	.	.	.	.	.	.	C	32	5.124439	0.94429	.	.	ENSG00000183605	ENST00000355697;ENST00000330036	.	.	.	3.59	3.59	0.41128	.	0.069253	0.53938	D	0.000042	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	-24.0513	13.0177	0.58768	0.0:1.0:0.0:0.0	.	.	.	.	X	26	.	ENSP00000333200:E26X	E	-	1	0	SFXN4	120915074	1.000000	0.71417	1.000000	0.80357	0.607000	0.37147	3.114000	0.50383	2.306000	0.77630	0.462000	0.41574	GAG		0.701	SFXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050642.3		XM_058406		12	26	1	0	4.3838e-07	0.016723	4.60437e-07	12	26		
CDHR5	53841	broad.mit.edu	37	11	617954	617954	+	Splice_Site	SNP	C	C	T			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr11:617954C>T	ENST00000358353.3	-	15	2440	c.2118G>A	c.(2116-2118)ccG>ccA	p.P706P	IRF7_ENST00000348655.6_5'Flank|IRF7_ENST00000397566.1_5'Flank|IRF7_ENST00000397574.2_5'Flank|CDHR5_ENST00000349570.7_Splice_Site_p.P512P|IRF7_ENST00000397570.1_5'Flank|IRF7_ENST00000525445.1_5'Flank|IRF7_ENST00000397562.3_5'Flank|CDHR5_ENST00000397542.2_Splice_Site_p.P706P|IRF7_ENST00000330243.5_5'Flank			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	706					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						TGGGCCTCACCGGAGCTTTGC	0.672																																						uc001lqj.2		NaN																	0					0						c.(2116-2118)CCG>CCA		mucin and cadherin-like isoform 1							18.0	21.0	20.0					11																	617954		2199	4294	6493	SO:0001630	splice_region_variant	53841				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:617954C>T	AF258675	CCDS7707.1, CCDS7708.1	11p15.5	2011-07-01	2010-01-25	2010-01-25	ENSG00000099834	ENSG00000099834		"""Cadherins / Cadherin-related"""	7521	protein-coding gene	gene with protein product		606839	"""mucin and cadherin-like"", ""mucin-like protocadherin"""	MUCDHL, MUPCDH		11031102, 10801787	Standard	NM_021924		Approved	FLJ20219, MU-PCDH	uc001lqj.3	Q9HBB8	OTTHUMG00000132018	ENST00000358353.3:c.2118+1G>A	11.37:g.617954C>T						IRF7_uc009ycb.2_5'Flank|IRF7_uc010qwf.1_5'Flank|IRF7_uc001lqf.2_5'Flank|IRF7_uc010qwg.1_5'Flank|IRF7_uc001lqg.2_5'Flank|IRF7_uc001lqh.2_5'Flank|IRF7_uc001lqi.2_5'Flank|IRF7_uc010qwh.1_5'Flank|CDHR5_uc001lqk.2_Silent_p.P512P|CDHR5_uc009ycc.2_Silent_p.P540P|CDHR5_uc009ycd.2_Silent_p.P700P|CDHR5_uc001lql.2_Silent_p.P706P	p.P706P	NM_021924	NP_068743	Q9HBB8	CDHR5_HUMAN			14	2223	-			706			Cytoplasmic (Potential).		C9J7X1|Q9H746|Q9HAU3|Q9HBB5|Q9HBB6|Q9HBB7|Q9NX86|Q9NXI9	Silent	SNP	ENST00000358353.3	37	c.2118G>A	CCDS7707.1																																																																																				0.672	CDHR5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255023.2		NM_021924	Silent	9	12	0	0	0	0.010729	0	9	12		
MRGPRE	116534	broad.mit.edu	37	11	3249921	3249921	+	Missense_Mutation	SNP	C	C	T	rs201883378		TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr11:3249921C>T	ENST00000389832.5	-	2	415	c.109G>A	c.(109-111)Ggt>Agt	p.G37S	AC109309.4_ENST00000418995.2_RNA|MRGPRE_ENST00000436689.2_Missense_Mutation_p.G36S			Q86SM8	MRGRE_HUMAN	MAS-related GPR, member E	37						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGCAGCCCACCGAGGCCGAGC	0.652																																						uc001lxq.3		NaN																	0				large_intestine(1)|ovary(1)	2						c.(106-108)GGT>AGT		MAS-related GPR, member E							57.0	66.0	63.0					11																	3249921		2016	4175	6191	SO:0001583	missense	116534					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:3249921C>T	AY255572	CCDS41603.1, CCDS41603.2	11p15.5	2012-08-21	2004-03-25		ENSG00000184350	ENSG00000184350		"""GPCR / Class A : Orphans"""	30694	protein-coding gene	gene with protein product		607232	"""G protein-coupled receptor 167"""	GPR167		11551509	Standard	NM_001039165		Approved	mrgE	uc001lxq.5	Q86SM8	OTTHUMG00000011708	ENST00000389832.5:c.109G>A	11.37:g.3249921C>T	ENSP00000374482:p.Gly37Ser						p.G36S	NM_001039165	NP_001034254	Q86SM8	MRGRE_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)	2	416	-		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)	36			Helical; Name=1; (Potential).		Q2M1V7	Missense_Mutation	SNP	ENST00000389832.5	37	c.106G>A		.	.	.	.	.	.	.	.	.	.	c	14.58	2.577116	0.45902	.	.	ENSG00000184350	ENST00000436689;ENST00000389832	T	0.18338	2.22	3.5	2.54	0.30619	.	0.389904	0.18288	U	0.145799	T	0.05960	0.0155	N	0.08118	0	0.09310	N	1	P	0.43542	0.81	B	0.24269	0.052	T	0.26883	-1.0090	10	0.72032	D	0.01	-7.055	8.3365	0.32217	0.0:0.7559:0.2441:0.0	.	36	Q86SM8	MRGRE_HUMAN	S	37;36	ENSP00000393251:G37S	ENSP00000374482:G36S	G	-	1	0	MRGPRE	3206497	0.014000	0.17966	0.001000	0.08648	0.039000	0.13416	1.530000	0.36007	0.613000	0.30089	0.484000	0.47621	GGT		0.652	MRGPRE-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000032346.5		XM_171536		9	76	0	0	0	0.006214	0	9	76		
C11orf16	56673	broad.mit.edu	37	11	8947502	8947502	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr11:8947502G>A	ENST00000326053.5	-	5	818	c.712C>T	c.(712-714)Cac>Tac	p.H238Y	C11orf16_ENST00000525780.1_Missense_Mutation_p.H238Y|C11orf16_ENST00000528998.1_5'Flank	NM_020643.2	NP_065694.2	Q9NQ32	CK016_HUMAN	chromosome 11 open reading frame 16	238										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	22				Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)		GGGGCCCAGTGAAGGGGCCTG	0.607																																						uc001mhb.3		NaN																	0				upper_aerodigestive_tract(1)|pancreas(1)	2						c.(712-714)CAC>TAC		hypothetical protein LOC56673							60.0	66.0	64.0					11																	8947502		2201	4296	6497	SO:0001583	missense	56673							g.chr11:8947502G>A	AJ400877	CCDS7794.1	11p15.3	2008-06-25			ENSG00000176029	ENSG00000176029			1169	protein-coding gene	gene with protein product						11528127	Standard	NM_020643		Approved		uc001mhb.4	Q9NQ32	OTTHUMG00000165654	ENST00000326053.5:c.712C>T	11.37:g.8947502G>A	ENSP00000318999:p.His238Tyr					C11orf16_uc001mhc.3_Missense_Mutation_p.H238Y	p.H238Y	NM_020643	NP_065694	Q9NQ32	CK016_HUMAN		Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)	5	836	-			238					Q53FB2|Q8N6Y9	Missense_Mutation	SNP	ENST00000326053.5	37	c.712C>T	CCDS7794.1	.	.	.	.	.	.	.	.	.	.	G	10.83	1.460200	0.26248	.	.	ENSG00000176029	ENST00000525780;ENST00000326053	T;T	0.29917	1.55;1.55	5.86	5.86	0.93980	.	0.564160	0.17380	N	0.176330	T	0.23210	0.0561	L	0.29908	0.895	0.09310	N	1	P;P	0.38420	0.63;0.63	B;B	0.34652	0.187;0.187	T	0.15549	-1.0433	10	0.25106	T	0.35	-15.6257	14.7969	0.69884	0.0:0.1433:0.8567:0.0	.	238;238	Q9NQ32-2;Q9NQ32	.;CK016_HUMAN	Y	238	ENSP00000436818:H238Y;ENSP00000318999:H238Y	ENSP00000318999:H238Y	H	-	1	0	C11orf16	8904078	0.695000	0.27747	0.926000	0.36857	0.529000	0.34654	2.804000	0.47931	2.775000	0.95449	0.655000	0.94253	CAC		0.607	C11orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385626.1		NM_020643		10	88	0	0	0	0.013537	0	10	88		
TIGD3	220359	broad.mit.edu	37	11	65123927	65123927	+	Silent	SNP	C	C	T			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr11:65123927C>T	ENST00000309880.5	+	2	855	c.648C>T	c.(646-648)ctC>ctT	p.L216L		NM_145719.2	NP_663771.1	Q6B0B8	TIGD3_HUMAN	tigger transposable element derived 3	216	DDE.					nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						TGGGTGGGCTCCAGGCTGCCC	0.637																																						uc001odo.3		NaN																	0					0						c.(646-648)CTC>CTT		tigger transposable element derived 3							69.0	78.0	75.0					11																	65123927		2201	4297	6498	SO:0001819	synonymous_variant	220359				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding	g.chr11:65123927C>T		CCDS8101.1	11q13.1	2008-07-21				ENSG00000173825			18334	protein-coding gene	gene with protein product							Standard	NM_145719		Approved		uc001odo.4	Q6B0B8		ENST00000309880.5:c.648C>T	11.37:g.65123927C>T							p.L216L	NM_145719	NP_663771	Q6B0B8	TIGD3_HUMAN			2	811	+			216			DDE.			Silent	SNP	ENST00000309880.5	37	c.648C>T	CCDS8101.1																																																																																				0.637	TIGD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387310.1		NM_145719		8	129	0	0	0	0.00308	0	8	129		
SSH3	54961	broad.mit.edu	37	11	67077777	67077777	+	Silent	SNP	G	G	A			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr11:67077777G>A	ENST00000308127.4	+	13	1828	c.1650G>A	c.(1648-1650)ctG>ctA	p.L550L	SSH3_ENST00000308298.7_Silent_p.L285L|SSH3_ENST00000376757.5_3'UTR	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	slingshot protein phosphatase 3	550					protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|DNA binding (GO:0003677)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			CCTTGGAGCTGGAGAGCACCT	0.622																																						uc001okj.2		NaN																	0				ovary(1)	1						c.(1648-1650)CTG>CTA		slingshot homolog 3							52.0	57.0	55.0					11																	67077777		2200	4295	6495	SO:0001819	synonymous_variant	54961				regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton|nucleus	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr11:67077777G>A	AF085851	CCDS8157.1	11q13	2013-03-05	2013-03-05		ENSG00000172830	ENSG00000172830		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30581	protein-coding gene	gene with protein product		606780	"""slingshot homolog 3 (Drosophila)"""			11832213	Standard	NM_017857		Approved	FLJ20515, FLJ10928	uc001okj.3	Q8TE77	OTTHUMG00000167105	ENST00000308127.4:c.1650G>A	11.37:g.67077777G>A						SSH3_uc001okk.2_RNA|SSH3_uc001okl.2_Silent_p.L404L	p.L550L	NM_017857	NP_060327	Q8TE77	SSH3_HUMAN	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		13	1828	+			550					Q6PK42|Q76I75|Q8N9L8|Q8WYL0|Q9NV45|Q9NWZ7	Silent	SNP	ENST00000308127.4	37	c.1650G>A	CCDS8157.1																																																																																				0.622	SSH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393167.1		NM_018276		12	72	0	0	0	0.028581	0	12	72		
PRCP	5547	broad.mit.edu	37	11	82611320	82611320	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr11:82611320G>C	ENST00000313010.3	-	1	319	c.125C>G	c.(124-126)cCg>cGg	p.P42R	PRCP_ENST00000535099.1_Intron|C11orf82_ENST00000524921.1_5'Flank|C11orf82_ENST00000430323.2_5'Flank|PRCP_ENST00000393399.2_Missense_Mutation_p.P42R|C11orf82_ENST00000525388.1_5'Flank|C11orf82_ENST00000528759.1_5'Flank|C11orf82_ENST00000525361.1_5'Flank|C11orf82_ENST00000533655.1_5'Flank	NM_005040.2	NP_005031.1	P42785	PCP_HUMAN	prolylcarboxypeptidase (angiotensinase C)	42					angiogenesis involved in wound healing (GO:0060055)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|energy homeostasis (GO:0097009)|glucose homeostasis (GO:0042593)|negative regulation of systemic arterial blood pressure (GO:0003085)|plasma kallikrein-kinin cascade (GO:0002353)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of thyroid hormone mediated signaling pathway (GO:0002155)	basal part of cell (GO:0045178)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	serine-type carboxypeptidase activity (GO:0004185)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						GGCTACAGCCGGGAGGGATGT	0.637																																						uc001ozs.2		NaN																	0				skin(1)	1						c.(124-126)CCG>CGG		prolylcarboxypeptidase isoform 1 preproprotein							73.0	83.0	79.0					11																	82611320		2203	4300	6503	SO:0001583	missense	5547				blood coagulation, intrinsic pathway|proteolysis	lysosome|plasma membrane	protein binding|serine-type carboxypeptidase activity	g.chr11:82611320G>C	BC001500, BI827978, L13977	CCDS8262.1, CCDS41695.1	11q14	2005-10-04				ENSG00000137509			9344	protein-coding gene	gene with protein product		176785				8344943	Standard	NM_199418		Approved	PCP, HUMPCP	uc001ozr.3	P42785		ENST00000313010.3:c.125C>G	11.37:g.82611320G>C	ENSP00000317362:p.Pro42Arg					PRCP_uc001ozr.2_Missense_Mutation_p.P42R|C11orf82_uc001ozt.2_5'Flank|C11orf82_uc010rsr.1_5'Flank|C11orf82_uc010rss.1_5'Flank|C11orf82_uc009yvd.2_5'Flank	p.P42R	NM_005040	NP_005031	P42785	PCP_HUMAN			1	238	-			42					A8MU24|B2R7B7|B3KRK5|B5BU34	Missense_Mutation	SNP	ENST00000313010.3	37	c.125C>G	CCDS8262.1	.	.	.	.	.	.	.	.	.	.	G	10.41	1.343296	0.24339	.	.	ENSG00000137509	ENST00000313010;ENST00000393399	T;T	0.14144	2.53;2.54	3.71	-2.14	0.07123	.	1.062860	0.07436	N	0.896447	T	0.05227	0.0139	N	0.08118	0	0.09310	N	0.999995	B;B	0.10296	0.001;0.003	B;B	0.04013	0.001;0.001	T	0.42292	-0.9460	9	.	.	.	0.5252	2.4505	0.04517	0.1011:0.1559:0.2668:0.4762	.	42;42	P42785;A8MU24	PCP_HUMAN;.	R	42	ENSP00000317362:P42R;ENSP00000377055:P42R	.	P	-	2	0	PRCP	82288968	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.017000	0.13399	-0.396000	0.07703	-0.319000	0.08680	CCG		0.637	PRCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391792.1		NM_005040		13	85	0	0	0	0.028581	0	13	85		
KBTBD3	143879	broad.mit.edu	37	11	105929784	105929784	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr11:105929784C>T	ENST00000531482.2	-	1	54	c.41G>A	c.(40-42)cGa>cAa	p.R14Q	KBTBD3_ENST00000531837.1_Missense_Mutation_p.R14Q|KBTBD3_ENST00000534815.1_Intron|KBTBD3_ENST00000526793.1_Missense_Mutation_p.R14Q			Q8NAB2	KBTB3_HUMAN	kelch repeat and BTB (POZ) domain containing 3	10										NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)		ACATGTGCTTCGTTGATTGAA	0.328																																						uc001pja.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(40-42)CGA>CAA		BTB and kelch domain containing 3							58.0	57.0	57.0					11																	105929784		2199	4299	6498	SO:0001583	missense	143879							g.chr11:105929784C>T	AK055247	CCDS8334.1	11q22.3	2013-01-08	2003-12-12	2003-12-17		ENSG00000182359		"""BTB/POZ domain containing"""	22934	protein-coding gene	gene with protein product			"""BTB and kelch domain containing 3"""	BKLHD3			Standard	NM_198439		Approved		uc001pjb.3	Q8NAB2		ENST00000531482.2:c.41G>A	11.37:g.105929784C>T	ENSP00000475836:p.Arg14Gln					KBTBD3_uc001pjb.2_Missense_Mutation_p.R14Q|KBTBD3_uc009yxm.2_Intron	p.R14Q	NM_198439	NP_940841	Q8NAB2	KBTB3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)	3	681	-		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)	10					Q6N066|Q86X38|Q96NK5	Missense_Mutation	SNP	ENST00000531482.2	37	c.41G>A		.	.	.	.	.	.	.	.	.	.	C	8.786	0.929346	0.18131	.	.	ENSG00000182359	ENST00000526793;ENST00000531837	T;T	0.65364	-0.15;-0.15	5.85	-0.469	0.12142	.	0.726723	0.12452	N	0.467653	T	0.36248	0.0960	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.18178	-1.0345	10	0.15066	T	0.55	.	5.7184	0.17972	0.0:0.5036:0.1311:0.3653	.	14;10	A8K1K0;Q8NAB2	.;KBTB3_HUMAN	Q	14	ENSP00000436262:R14Q;ENSP00000432163:R14Q	ENSP00000436262:R14Q	R	-	2	0	KBTBD3	105434994	0.403000	0.25319	0.004000	0.12327	0.536000	0.34869	0.285000	0.18883	-0.224000	0.09928	-0.150000	0.13652	CGA		0.328	KBTBD3-006	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000388708.2		NM_152433		4	35	0	0	0	0.014758	0	4	35		
CHEK1	1111	broad.mit.edu	37	11	125513987	125513987	+	Splice_Site	SNP	G	G	A			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr11:125513987G>A	ENST00000534070.1	+	10	1180	c.925G>A	c.(925-927)Gaa>Aaa	p.E309K	CHEK1_ENST00000544373.1_Splice_Site_p.E309K|CHEK1_ENST00000532449.1_3'UTR|CHEK1_ENST00000524737.1_Splice_Site_p.E309K|CHEK1_ENST00000428830.2_Splice_Site_p.E309K|CHEK1_ENST00000427383.2_Splice_Site_p.E325K|CHEK1_ENST00000278916.3_Splice_Site_p.E309K|CHEK1_ENST00000438015.1_Splice_Site_p.E309K	NM_001274.5	NP_001265.2	O14757	CHK1_HUMAN	checkpoint kinase 1	309					cellular response to caffeine (GO:0071313)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to mechanical stimulus (GO:0071260)|chromatin-mediated maintenance of transcription (GO:0048096)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of mitosis (GO:0045839)|peptidyl-threonine phosphorylation (GO:0018107)|regulation of cell proliferation (GO:0042127)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of histone H3-K9 acetylation (GO:2000615)|regulation of mitotic centrosome separation (GO:0046602)|regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010767)|replicative senescence (GO:0090399)	centrosome (GO:0005813)|chromatin (GO:0000785)|condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	ATP binding (GO:0005524)|histone kinase activity (H3-T11 specific) (GO:0035402)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(3)|endometrium(3)|large_intestine(2)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	26	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)		ATGCCTCAGTGAAGAAAATGT	0.378								Other conserved DNA damage response genes																														uc009zbo.2		NaN																	0				central_nervous_system(3)|lung(2)|skin(1)	6						c.(925-927)GAA>AAA	Other_conserved_DNA_damage_response_genes	checkpoint kinase 1							81.0	79.0	80.0					11																	125513987		2201	4299	6500	SO:0001630	splice_region_variant	1111				cellular response to mechanical stimulus|DNA repair|DNA replication|gamete generation|negative regulation of cell proliferation|reciprocal meiotic recombination|regulation of cyclin-dependent protein kinase activity|replicative senescence	condensed nuclear chromosome|microtubule organizing center|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr11:125513987G>A	AF016582, BC017575	CCDS8459.1, CCDS58191.1	11q24.2	2011-11-11	2011-11-11		ENSG00000149554	ENSG00000149554			1925	protein-coding gene	gene with protein product		603078	"""CHK1 (checkpoint, S.pombe) homolog"", ""CHK1 checkpoint homolog (S. pombe)"""			9278511, 9382850	Standard	NM_001114121		Approved	CHK1	uc001qcg.4	O14757	OTTHUMG00000165853	ENST00000534070.1:c.924-1G>A	11.37:g.125513987G>A						CHEK1_uc010sbh.1_Missense_Mutation_p.E325K|CHEK1_uc010sbi.1_Missense_Mutation_p.E309K|CHEK1_uc001qcf.3_Missense_Mutation_p.E309K|CHEK1_uc009zbp.2_Missense_Mutation_p.E309K|CHEK1_uc001qcg.3_Missense_Mutation_p.E309K|CHEK1_uc009zbq.2_Missense_Mutation_p.E309K|CHEK1_uc001qci.1_RNA|CHEK1_uc001qcj.2_5'UTR	p.E309K	NM_001114122	NP_001107594	O14757	CHK1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)	10	1817	+	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	309					A8K934|B4DDD0|B4DSK3|B5BTY6|F5H7S4|H2BI51	Missense_Mutation	SNP	ENST00000534070.1	37	c.925G>A	CCDS8459.1	.	.	.	.	.	.	.	.	.	.	G	16.34	3.094967	0.56075	.	.	ENSG00000149554	ENST00000438015;ENST00000427383;ENST00000428830;ENST00000544373;ENST00000534070;ENST00000524737;ENST00000278916	T;T;T;T;T;T;T	0.24350	1.86;1.86;1.86;1.86;1.86;1.86;1.86	5.49	5.49	0.81192	Protein kinase-like domain (1);	0.051731	0.85682	D	0.000000	T	0.23649	0.0572	L	0.38175	1.15	0.80722	D	1	B;B;B;B	0.27450	0.079;0.179;0.011;0.011	B;B;B;B	0.23574	0.047;0.011;0.021;0.021	T	0.02156	-1.1204	10	0.33940	T	0.23	-23.3387	18.1549	0.89688	0.0:0.0:1.0:0.0	.	309;325;309;309	F5H7S4;E7EPP6;B5BTY6;O14757	.;.;.;CHK1_HUMAN	K	309;325;309;309;309;309;309	ENSP00000388648:E309K;ENSP00000391090:E325K;ENSP00000412504:E309K;ENSP00000442317:E309K;ENSP00000435371:E309K;ENSP00000432890:E309K;ENSP00000278916:E309K	ENSP00000278916:E309K	E	+	1	0	CHEK1	125019197	1.000000	0.71417	1.000000	0.80357	0.816000	0.46133	8.754000	0.91642	2.593000	0.87608	0.655000	0.94253	GAA		0.378	CHEK1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386714.1		NM_001274	Missense_Mutation	38	26	0	0	0	0.007835	0	38	26		
VWF	7450	broad.mit.edu	37	12	6105241	6105241	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr12:6105241G>C	ENST00000261405.5	-	35	6244	c.5990C>G	c.(5989-5991)gCa>gGa	p.A1997G		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	1997	VWFD 4. {ECO:0000255|PROSITE- ProRule:PRU00580}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GCCCTGCCTTGCTCCAGGGCT	0.522																																						uc001qnn.1		NaN																	0				skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12						c.(5989-5991)GCA>GGA		von Willebrand factor preproprotein	Antihemophilic Factor(DB00025)						48.0	43.0	45.0					12																	6105241		2203	4300	6503	SO:0001583	missense	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6105241G>C		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.5990C>G	12.37:g.6105241G>C	ENSP00000261405:p.Ala1997Gly					VWF_uc010set.1_Intron	p.A1997G	NM_000552	NP_000543	P04275	VWF_HUMAN			35	6240	-			1997			VWFD 4.		Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	37	c.5990C>G	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	G	2.381	-0.342051	0.05243	.	.	ENSG00000110799	ENST00000261405	T	0.60040	0.22	5.55	-0.154	0.13399	von Willebrand factor, type D domain (3);	1.497270	0.04313	N	0.349355	T	0.49474	0.1559	L	0.55481	1.735	0.09310	N	1	B	0.27013	0.166	B	0.28916	0.096	T	0.17868	-1.0355	10	0.15499	T	0.54	.	5.1466	0.14989	0.2906:0.0:0.4818:0.2276	.	1997	P04275	VWF_HUMAN	G	1997	ENSP00000261405:A1997G	ENSP00000261405:A1997G	A	-	2	0	VWF	5975502	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.087000	0.14958	0.032000	0.15435	-0.169000	0.13324	GCA		0.522	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1		NM_000552		14	24	0	0	0	0.00499	0	14	24		
PRR4	11272	broad.mit.edu	37	12	11000981	11000981	+	Silent	SNP	G	G	A			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr12:11000981G>A	ENST00000228811.4	-	2	127	c.90C>T	c.(88-90)ttC>ttT	p.F30F	PRR4_ENST00000544994.1_Silent_p.F30F|PRR4_ENST00000536668.1_5'UTR|PRR4_ENST00000540107.1_Silent_p.F30F	NM_007244.2	NP_009175.2	Q16378	PROL4_HUMAN	proline rich 4 (lacrimal)	30					retina homeostasis (GO:0001895)|visual perception (GO:0007601)	extracellular space (GO:0005615)				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	9						CTGGTATGGTGAAAGTAAAGT	0.358																																						uc001qyz.3		NaN																	0					0						c.(88-90)TTC>TTT		proline rich 4 (lacrimal) isoform 2							100.0	98.0	98.0					12																	11000981		1879	4107	5986	SO:0001819	synonymous_variant	11272				visual perception	extracellular space		g.chr12:11000981G>A		CCDS41756.1, CCDS55804.1	12p13	2008-02-05		2004-05-28		ENSG00000111215			18020	protein-coding gene	gene with protein product		605359		PROL4		7544782	Standard	NM_007244		Approved	LPRP	uc001qyz.4	Q16378		ENST00000228811.4:c.90C>T	12.37:g.11000981G>A						PRR4_uc009zhp.2_Silent_p.F43F|PRH1_uc001qzb.3_RNA|PRR4_uc001qza.3_RNA|PRR4_uc009zhq.1_RNA	p.F30F	NM_007244	NP_009175	Q16378	PROL4_HUMAN			2	129	-			30					A8KA69|F5H0D7|Q8NFB3	Silent	SNP	ENST00000228811.4	37	c.90C>T	CCDS41756.1																																																																																				0.358	PRR4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400049.1		NM_007244		15	15	0	0	0	0.007413	0	15	15		
ATF7IP	55729	broad.mit.edu	37	12	14577646	14577646	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr12:14577646C>T	ENST00000540793.1	+	1	952	c.797C>T	c.(796-798)tCt>tTt	p.S266F	ATF7IP_ENST00000544627.1_Missense_Mutation_p.S274F|ATF7IP_ENST00000536444.1_Missense_Mutation_p.S266F|ATF7IP_ENST00000543189.1_Missense_Mutation_p.S266F|ATF7IP_ENST00000261168.4_Missense_Mutation_p.S266F|ATF7IP_ENST00000541654.1_3'UTR			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	266					DNA methylation (GO:0006306)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045898)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)				cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						GAACTGGCCTCTGATGATCTG	0.483																																						uc001rbw.2		NaN																	0				lung(3)|ovary(1)|skin(1)	5						c.(796-798)TCT>TTT		activating transcription factor 7 interacting							123.0	119.0	120.0					12																	14577646		2203	4300	6503	SO:0001583	missense	55729				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding	g.chr12:14577646C>T	AJ242978	CCDS8663.1, CCDS66326.1, CCDS66327.1, CCDS73449.1	12p13.1	2005-11-18				ENSG00000171681			20092	protein-coding gene	gene with protein product		613644				10976766, 10777215	Standard	XM_005253424		Approved	FLJ10688, p621	uc001rbw.3	Q6VMQ6		ENST00000540793.1:c.797C>T	12.37:g.14577646C>T	ENSP00000444589:p.Ser266Phe					ATF7IP_uc010shs.1_Missense_Mutation_p.S266F|ATF7IP_uc001rbu.2_Missense_Mutation_p.S266F|ATF7IP_uc001rbv.1_Missense_Mutation_p.S266F|ATF7IP_uc001rbx.2_Missense_Mutation_p.S266F|ATF7IP_uc010sht.1_Missense_Mutation_p.S266F|ATF7IP_uc001rby.3_Missense_Mutation_p.S266F|ATF7IP_uc001rbz.1_Missense_Mutation_p.S266F|ATF7IP_uc001rca.2_Missense_Mutation_p.S266F|ATF7IP_uc001rcb.2_5'Flank	p.S266F	NM_018179	NP_060649	Q6VMQ6	MCAF1_HUMAN			2	955	+			266					F5GX74|G3V1U0|Q4G0T9|Q6P3T3|Q86XW5|Q9NVJ9|Q9NWC2|Q9Y4X8	Missense_Mutation	SNP	ENST00000540793.1	37	c.797C>T	CCDS8663.1	.	.	.	.	.	.	.	.	.	.	C	16.27	3.077307	0.55753	.	.	ENSG00000171681	ENST00000261168;ENST00000543189;ENST00000536444;ENST00000544627;ENST00000396279;ENST00000540793	T;T;T;T;T;T	0.26660	2.06;2.1;2.09;2.06;1.72;2.06	5.32	4.43	0.53597	.	0.240857	0.30235	N	0.010087	T	0.33876	0.0878	N	0.22421	0.69	0.37973	D	0.933333	D;D;D;D;D	0.71674	0.998;0.998;0.998;0.998;0.994	D;D;D;D;P	0.70935	0.971;0.971;0.914;0.914;0.878	T	0.18555	-1.0333	10	0.25751	T	0.34	-4.3017	14.2035	0.65719	0.0:0.8495:0.1505:0.0	.	274;266;266;266;266	B4E2A2;B4DRL6;G3V1U0;Q6VMQ6;Q6VMQ6-2	.;.;.;MCAF1_HUMAN;.	F	266;266;266;274;266;266	ENSP00000261168:S266F;ENSP00000443179:S266F;ENSP00000445955:S266F;ENSP00000440440:S274F;ENSP00000379575:S266F;ENSP00000444589:S266F	ENSP00000261168:S266F	S	+	2	0	ATF7IP	14468913	0.017000	0.18338	0.151000	0.22473	0.059000	0.15707	2.443000	0.44881	1.616000	0.50265	-0.165000	0.13383	TCT		0.483	ATF7IP-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401400.1		NM_018179		29	86	0	0	0	0.010818	0	29	86		
PRPF40B	25766	broad.mit.edu	37	12	50026812	50026812	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr12:50026812G>A	ENST00000380281.1	+	6	362	c.298G>A	c.(298-300)Gag>Aag	p.E100K	PRPF40B_ENST00000548825.2_Missense_Mutation_p.E122K|PRPF40B_ENST00000261897.1_Missense_Mutation_p.E94K			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	100	WW 1. {ECO:0000255|PROSITE- ProRule:PRU00224}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						CCTATGGAGTGAGCATGTGGC	0.582																																						uc001rur.1		NaN																	0				skin(2)|ovary(1)|pancreas(1)|kidney(1)	5						c.(298-300)GAG>AAG		Huntingtin interacting protein C isoform 1							22.0	20.0	21.0					12																	50026812		2203	4299	6502	SO:0001583	missense	25766				mRNA processing|RNA splicing	nuclear speck		g.chr12:50026812G>A	AF049525	CCDS31796.1, CCDS31796.2	12q13.12	2014-09-17	2006-04-04			ENSG00000110844			25031	protein-coding gene	gene with protein product	"""Huntingtin interacting protein C"""		"""PRP40 pre-mRNA processing factor 40 homolog B (yeast)"""			9700202	Standard	NM_001031698		Approved	HYPC	uc001rus.2	Q6NWY9		ENST00000380281.1:c.298G>A	12.37:g.50026812G>A	ENSP00000369634:p.Glu100Lys					PRPF40B_uc001rup.1_Missense_Mutation_p.E122K|PRPF40B_uc001ruq.1_Missense_Mutation_p.E94K|PRPF40B_uc001rus.1_Missense_Mutation_p.E43K	p.E100K	NM_001031698	NP_001026868	Q6NWY9	PR40B_HUMAN			6	362	+			100			WW 1.		O75401|Q6PI09|Q6ZWB3|Q8NCZ1|Q9H5G4|Q9NT95	Missense_Mutation	SNP	ENST00000380281.1	37	c.298G>A		.	.	.	.	.	.	.	.	.	.	G	25.6	4.656150	0.88056	.	.	ENSG00000110844	ENST00000548825;ENST00000261897;ENST00000380281	D;D;D	0.84589	-1.87;-1.87;-1.87	4.91	4.91	0.64330	WW/Rsp5/WWP (5);	0.000000	0.64402	D	0.000007	D	0.92355	0.7574	M	0.81942	2.565	0.80722	D	1	D;D;D	0.69078	0.997;0.996;0.996	D;D;D	0.77004	0.989;0.981;0.981	D	0.92318	0.5863	9	.	.	.	-22.2775	17.3988	0.87453	0.0:0.0:1.0:0.0	.	100;94;100	Q6NWY9;Q6NWY9-2;Q6NWY9-3	PR40B_HUMAN;.;.	K	122;94;100	ENSP00000448073:E122K;ENSP00000261897:E94K;ENSP00000369634:E100K	.	E	+	1	0	PRPF40B	48313079	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.518000	0.90559	2.733000	0.93635	0.561000	0.74099	GAG		0.582	PRPF40B-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000404838.1		NM_012272		4	10	0	0	0	0.014758	0	4	10		
KRT7	3855	broad.mit.edu	37	12	52627328	52627328	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr12:52627328C>G	ENST00000331817.5	+	1	431	c.248C>G	c.(247-249)tCc>tGc	p.S83C		NM_005556.3	NP_005547.3	P08729	K2C7_HUMAN	keratin 7	83	Head.			SL -> FS (in Ref. 3; CAB41416). {ECO:0000305}.	viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(357;0.105)	Primaquine(DB01087)	GCCGACCCCTCCCTCCAGCGG	0.677																																						uc001saa.1		NaN																	0					0						c.(247-249)TCC>TGC		keratin 7							33.0	36.0	35.0					12																	52627328		2201	4295	6496	SO:0001583	missense	3855				cytoskeleton organization|DNA replication|interphase|interspecies interaction between organisms|regulation of translation	Golgi apparatus|keratin filament|nucleus	protein binding|structural molecule activity	g.chr12:52627328C>G		CCDS8822.1	12q13.13	2013-01-16			ENSG00000135480	ENSG00000135480		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6445	protein-coding gene	gene with protein product	"""keratin, type II cytoskeletal 7"", ""cytokeratin 7"", ""sarcolectin"", ""keratin, 55K type II cytoskeletal"""	148059				1713141, 16831889	Standard	XR_245927		Approved	K7, CK7, K2C7, SCL	uc001saa.1	P08729	OTTHUMG00000169580	ENST00000331817.5:c.248C>G	12.37:g.52627328C>G	ENSP00000329243:p.Ser83Cys					KRT7_uc009zmf.1_Missense_Mutation_p.S83C	p.S83C	NM_005556	NP_005547	P08729	K2C7_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.105)	1	375	+			83	SL -> FS (in Ref. 3; CAB41416).		Head.		Q92676|Q9BUD8|Q9Y3R7	Missense_Mutation	SNP	ENST00000331817.5	37	c.248C>G	CCDS8822.1	.	.	.	.	.	.	.	.	.	.	C	13.29	2.193705	0.38707	.	.	ENSG00000135480	ENST00000331817;ENST00000543899;ENST00000422319;ENST00000551537	T	0.76316	-1.01	4.22	3.24	0.37175	.	0.533090	0.14227	N	0.332974	T	0.76062	0.3935	M	0.76574	2.34	0.24694	N	0.993295	B;B	0.18863	0.005;0.031	B;B	0.20767	0.031;0.009	T	0.69935	-0.5010	10	0.66056	D	0.02	.	10.3616	0.43998	0.2133:0.6635:0.1232:0.0	.	83;83	F8VZY5;P08729	.;K2C7_HUMAN	C	83;83;59;83	ENSP00000329243:S83C	ENSP00000329243:S83C	S	+	2	0	KRT7	50913595	0.000000	0.05858	1.000000	0.80357	0.933000	0.57130	-0.222000	0.09190	2.351000	0.79841	0.457000	0.33378	TCC		0.677	KRT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404897.1		NM_005556		16	64	0	0	0	0.00499	0	16	64		
NAV3	89795	broad.mit.edu	37	12	78360077	78360077	+	Silent	SNP	T	T	C			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr12:78360077T>C	ENST00000397909.2	+	4	656	c.483T>C	c.(481-483)gcT>gcC	p.A161A	NAV3_ENST00000266692.7_Silent_p.A161A|NAV3_ENST00000228327.6_Silent_p.A161A|NAV3_ENST00000536525.2_Silent_p.A161A			Q8IVL0	NAV3_HUMAN	neuron navigator 3	161	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.					membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GTCTATCTGCTGAAGGTAAGA	0.338										HNSCC(70;0.22)																												uc001syp.2		NaN																	0				large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						c.(481-483)GCT>GCC		neuron navigator 3							138.0	122.0	127.0					12																	78360077		1823	4092	5915	SO:0001819	synonymous_variant	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78360077T>C	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.483T>C	12.37:g.78360077T>C		HNSCC(70;0.22)				NAV3_uc001syo.2_Silent_p.A161A	p.A161A	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN			4	656	+			161			CH.		Q8NFW7|Q9Y2E7	Silent	SNP	ENST00000397909.2	37	c.483T>C		.	.	.	.	.	.	.	.	.	.	T	10.49	1.363585	0.24684	.	.	ENSG00000067798	ENST00000550503	.	.	.	5.58	0.248	0.15526	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-8.2758	0.7173	0.00934	0.2257:0.2361:0.11:0.4282	.	.	.	.	R	8	.	.	X	+	1	0	NAV3	76884208	0.981000	0.34729	1.000000	0.80357	0.990000	0.78478	0.100000	0.15231	0.080000	0.16959	-0.274000	0.10170	TGA		0.338	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1		NM_001024383		18	22	0	0	0	0.010504	0	18	22		
NTS	4922	broad.mit.edu	37	12	86272345	86272345	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr12:86272345G>A	ENST00000256010.6	+	3	465	c.358G>A	c.(358-360)Gag>Aag	p.E120K	NTS_ENST00000551529.1_Intron	NM_006183.4	NP_006174.1	P30990	NEUT_HUMAN	neurotensin	120					regulation of blood vessel size (GO:0050880)|signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)				large_intestine(2)|lung(6)	8						TCAACACTGGGAGGTATAGCA	0.333																																						uc001tag.2		NaN																	0					0						c.(358-360)GAG>AAG		neurotensin/neuromedin N preproprotein							58.0	57.0	57.0					12																	86272345		2203	4300	6503	SO:0001583	missense	4922				regulation of blood vessel size|signal transduction	extracellular region|soluble fraction|transport vesicle	neuropeptide hormone activity	g.chr12:86272345G>A		CCDS9029.1	12q21.31	2013-02-26			ENSG00000133636	ENSG00000133636		"""Endogenous ligands"""	8038	protein-coding gene	gene with protein product	"""neuromedin N"", ""pro-neurotensin/neuromedin"""	162650					Standard	NM_006183		Approved		uc001tag.3	P30990	OTTHUMG00000169832	ENST00000256010.6:c.358G>A	12.37:g.86272345G>A	ENSP00000256010:p.Glu120Lys						p.E120K	NM_006183	NP_006174	P30990	NEUT_HUMAN			3	465	+			120						Missense_Mutation	SNP	ENST00000256010.6	37	c.358G>A	CCDS9029.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.402253	0.83230	.	.	ENSG00000133636	ENST00000256010;ENST00000550879	.	.	.	5.32	5.32	0.75619	.	0.053071	0.64402	D	0.000001	T	0.78966	0.4367	M	0.66939	2.045	0.47584	D	0.999461	D	0.76494	0.999	D	0.83275	0.996	T	0.80944	-0.1156	9	0.87932	D	0	-12.0939	19.0096	0.92868	0.0:0.0:1.0:0.0	.	120	P30990	NEUT_HUMAN	K	120;65	.	ENSP00000256010:E120K	E	+	1	0	NTS	84796476	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	6.877000	0.75562	2.477000	0.83638	0.563000	0.77884	GAG		0.333	NTS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406111.2				6	41	0	0	0	0.00308	0	6	41		
HCAR2	338442	broad.mit.edu	37	12	123186957	123186957	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr12:123186957C>T	ENST00000328880.5	-	1	933	c.874G>A	c.(874-876)Gtg>Atg	p.V292M	HCAR1_ENST00000356987.2_Intron|RP11-324E6.6_ENST00000543611.1_lincRNA	NM_177551.3	NP_808219.1	Q8TDS4	HCAR2_HUMAN	hydroxycarboxylic acid receptor 2	292					negative regulation of lipid catabolic process (GO:0050995)|neutrophil apoptotic process (GO:0001781)|positive regulation of adiponectin secretion (GO:0070165)|positive regulation of neutrophil apoptotic process (GO:0033031)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nicotinic acid receptor activity (GO:0070553)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	15					Niacin(DB00627)	TAGTACACCACGGGGTCCAGC	0.527																																						uc001ucx.1		NaN																	0					0						c.(874-876)GTG>ATG		G protein-coupled receptor 109A	Mepenzolate(DB04843)|Niacin(DB00627)						47.0	40.0	42.0					12																	123186957		2202	4279	6481	SO:0001583	missense	338442				negative regulation of lipid catabolic process|neutrophil apoptosis|positive regulation of adiponectin secretion|positive regulation of neutrophil apoptosis	integral to membrane|plasma membrane	nicotinic acid receptor activity|purinergic nucleotide receptor activity, G-protein coupled	g.chr12:123186957C>T	AY148884	CCDS9235.1	12q24.31	2012-08-08	2011-05-30	2011-05-30	ENSG00000182782	ENSG00000182782		"""GPCR / Class A : Hydroxy-carboxylic acid receptors"""	24827	protein-coding gene	gene with protein product	"""niacin receptor 1"""	609163	"""G protein-coupled receptor 109A"""	GPR109A		21167710, 12522134, 12646212, 19141678, 18983141, 21454438	Standard	NM_177551		Approved	HCA2, HM74A, PUMAG, Puma-g, NIACR1	uc001ucx.1	Q8TDS4	OTTHUMG00000162722	ENST00000328880.5:c.874G>A	12.37:g.123186957C>T	ENSP00000375066:p.Val292Met					GPR81_uc001ucw.1_Intron	p.V292M	NM_177551	NP_808219	Q8TDS4	HCAR2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.12e-05)|Epithelial(86;3.19e-05)|BRCA - Breast invasive adenocarcinoma(302;0.196)	1	948	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		292			Helical; Name=7; (Potential).		A0PJL5|A7LGG3	Missense_Mutation	SNP	ENST00000328880.5	37	c.874G>A	CCDS9235.1	.	.	.	.	.	.	.	.	.	.	C	12.94	2.089634	0.36855	.	.	ENSG00000182782	ENST00000328880;ENST00000536970	T	0.39997	1.05	5.74	-11.5	0.00074	GPCR, rhodopsin-like superfamily (1);	0.426558	0.18247	N	0.147047	T	0.33147	0.0853	M	0.65320	2	0.09310	N	1	P	0.40553	0.721	B	0.42343	0.384	T	0.57027	-0.7881	10	0.66056	D	0.02	-4.774	10.287	0.43573	0.2056:0.0912:0.5891:0.1141	.	292	Q8TDS4	HCAR2_HUMAN	M	292	ENSP00000375066:V292M	ENSP00000375066:V292M	V	-	1	0	HCAR2	121752910	0.000000	0.05858	0.000000	0.03702	0.994000	0.84299	-3.005000	0.00650	-3.579000	0.00138	-0.302000	0.09304	GTG		0.527	HCAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370202.1		NM_177551		4	44	0	0	0	0.021553	0	4	44		
KL	9365	broad.mit.edu	37	13	33635874	33635874	+	Silent	SNP	G	G	A			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr13:33635874G>A	ENST00000380099.3	+	4	2666	c.2658G>A	c.(2656-2658)ctG>ctA	p.L886L	KL_ENST00000487852.1_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	886	Glycosyl hydrolase-1 2.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|calcium ion homeostasis (GO:0055074)|carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|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)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of bone mineralization (GO:0030501)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-glucosidase activity (GO:0008422)|beta-glucuronidase activity (GO:0004566)|fibroblast growth factor binding (GO:0017134)|signal transducer activity (GO:0004871)|vitamin D binding (GO:0005499)			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		ACGACCAGCTGAGGGTGTATT	0.488																																						uc001uus.2		NaN																	0				large_intestine(1)|ovary(1)|skin(1)	3						c.(2656-2658)CTG>CTA		klotho precursor							101.0	102.0	101.0					13																	33635874		2203	4300	6503	SO:0001819	synonymous_variant	9365				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding	g.chr13:33635874G>A	AB005142	CCDS9347.1	13q12	2008-02-05			ENSG00000133116	ENSG00000133116			6344	protein-coding gene	gene with protein product		604824				9464267	Standard	NM_004795		Approved		uc001uus.3	Q9UEF7	OTTHUMG00000017408	ENST00000380099.3:c.2658G>A	13.37:g.33635874G>A						KL_uc001uur.1_3'UTR	p.L886L	NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)	4	2666	+	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)	886			Glycosyl hydrolase-1 2.|Extracellular (Potential).		Q5VZ95|Q96KV5|Q96KW5|Q9UEI9|Q9Y4F0	Silent	SNP	ENST00000380099.3	37	c.2658G>A	CCDS9347.1																																																																																				0.488	KL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045987.1				18	67	0	0	0	0.007413	0	18	67		
POU4F1	5457	broad.mit.edu	37	13	79175873	79175873	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr13:79175873C>T	ENST00000377208.5	-	2	1148	c.937G>A	c.(937-939)Gag>Aag	p.E313K	RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000607220.1_RNA|RNF219-AS1_ENST00000606124.1_RNA|RNF219-AS1_ENST00000444769.3_RNA|RNF219-AS1_ENST00000560209.2_RNA|RP11-52L5.6_ENST00000607269.1_RNA|RNF219-AS1_ENST00000430549.2_RNA|RNF219-AS1_ENST00000607205.1_RNA|RNF219-AS1_ENST00000607860.1_RNA|RNF219-AS1_ENST00000606376.1_RNA|RNF219-AS1_ENST00000606429.1_RNA	NM_006237.3	NP_006228.3	Q01851	PO4F1_HUMAN	POU class 4 homeobox 1	313	POU-specific. {ECO:0000255|PROSITE- ProRule:PRU00530}.				axonogenesis (GO:0007409)|cell migration in hindbrain (GO:0021535)|central nervous system neuron differentiation (GO:0021953)|habenula development (GO:0021986)|innervation (GO:0060384)|mesoderm development (GO:0007498)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|peripheral nervous system neuron development (GO:0048935)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proprioception involved in equilibrioception (GO:0051355)|regulation of neurogenesis (GO:0050767)|sensory system development (GO:0048880)|suckling behavior (GO:0001967)|synapse assembly (GO:0007416)|transcription from RNA polymerase II promoter (GO:0006366)|trigeminal nerve development (GO:0021559)|ventricular compact myocardium morphogenesis (GO:0003223)	neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)	16		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.129)		GTGAGCGACTCGAACCTGCAG	0.647																																					Melanoma(109;347 2166 14574 42843)|Ovarian(81;1394 1854 22417 48351)	uc001vkv.2		NaN																	0				ovary(1)	1						c.(937-939)GAG>AAG		POU domain, class 4, transcription factor 1							44.0	40.0	41.0					13																	79175873		2202	4300	6502	SO:0001583	missense	5457				axonogenesis|regulation of transcription from RNA polymerase II promoter|synapse assembly	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr13:79175873C>T	X64624	CCDS31996.1	13q31.1	2011-06-20	2007-07-13		ENSG00000152192	ENSG00000152192		"""Homeoboxes / POU class"""	9218	protein-coding gene	gene with protein product		601632	"""POU domain class 4, transcription factor 1"""	BRN3A		1357630	Standard	NM_006237		Approved	RDC-1	uc001vkv.3	Q01851	OTTHUMG00000017119	ENST00000377208.5:c.937G>A	13.37:g.79175873C>T	ENSP00000366413:p.Glu313Lys					uc001vku.1_Intron	p.E313K	NM_006237	NP_006228	Q01851	PO4F1_HUMAN		GBM - Glioblastoma multiforme(99;0.129)	2	1171	-		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)	313			POU-specific.		Q14986|Q15318|Q5T227	Missense_Mutation	SNP	ENST00000377208.5	37	c.937G>A	CCDS31996.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.185459	0.78677	.	.	ENSG00000152192	ENST00000377208	D	0.94000	-3.33	3.96	3.96	0.45880	POU-specific (4);Lambda repressor-like, DNA-binding (2);POU (1);	0.061422	0.64402	D	0.000004	D	0.97259	0.9104	M	0.92169	3.28	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	D	0.98391	1.0563	10	0.87932	D	0	.	15.1952	0.73081	0.0:1.0:0.0:0.0	.	313	Q01851	PO4F1_HUMAN	K	313	ENSP00000366413:E313K	ENSP00000366413:E313K	E	-	1	0	POU4F1	78073874	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	7.621000	0.83083	1.941000	0.56285	0.499000	0.49734	GAG		0.647	POU4F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045360.3				6	18	0	0	0	0.008291	0	6	18		
TPP2	7174	broad.mit.edu	37	13	103326724	103326724	+	Missense_Mutation	SNP	G	G	A	rs538453932		TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr13:103326724G>A	ENST00000376065.4	+	27	3460	c.3424G>A	c.(3424-3426)Gac>Aac	p.D1142N	TPP2_ENST00000466153.1_3'UTR|TPP2_ENST00000376052.3_Missense_Mutation_p.D1155N	NM_003291.2	NP_003282.2	P29144	TPP2_HUMAN	tripeptidyl peptidase II	1142					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)|tripeptidyl-peptidase activity (GO:0008240)			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CCAGGCTCAAGACGGAGCCAT	0.478													G|||	1	0.000199681	0.0	0.0	5008	,	,		17473	0.0		0.0	False		,,,				2504	0.001					uc001vpi.3		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(3424-3426)GAC>AAC		tripeptidyl peptidase II							107.0	98.0	101.0					13																	103326724		2203	4300	6503	SO:0001583	missense	7174				proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity	g.chr13:103326724G>A	M55169	CCDS9502.1	13q32-q33	2008-02-05			ENSG00000134900	ENSG00000134900	3.4.14.10		12016	protein-coding gene	gene with protein product		190470				1670990	Standard	NM_003291		Approved		uc001vpi.4	P29144	OTTHUMG00000017305	ENST00000376065.4:c.3424G>A	13.37:g.103326724G>A	ENSP00000365233:p.Asp1142Asn						p.D1142N	NM_003291	NP_003282	P29144	TPP2_HUMAN			27	3527	+	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		1142					Q5VZU8	Missense_Mutation	SNP	ENST00000376065.4	37	c.3424G>A	CCDS9502.1	.	.	.	.	.	.	.	.	.	.	G	12.84	2.057268	0.36277	.	.	ENSG00000134900	ENST00000376065;ENST00000376052	.	.	.	5.41	4.57	0.56435	.	0.090662	0.85682	D	0.000000	T	0.34366	0.0895	N	0.22421	0.69	0.80722	D	1	P	0.36282	0.546	B	0.29353	0.101	T	0.11792	-1.0573	9	0.16896	T	0.51	.	14.6481	0.68774	0.0703:0.0:0.9297:0.0	.	1142	P29144	TPP2_HUMAN	N	1142;1155	.	ENSP00000365220:D1155N	D	+	1	0	TPP2	102124725	1.000000	0.71417	0.032000	0.17829	0.034000	0.12701	4.848000	0.62874	1.428000	0.47296	0.655000	0.94253	GAC		0.478	TPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045683.2				24	39	0	0	0	0.027356	0	24	39		
SLC7A7	9056	broad.mit.edu	37	14	23249162	23249162	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr14:23249162C>T	ENST00000397532.3	-	3	1123	c.598G>A	c.(598-600)Gtt>Att	p.V200I	SLC7A7_ENST00000285850.7_Missense_Mutation_p.V200I|SLC7A7_ENST00000554517.1_5'UTR|SLC7A7_ENST00000554061.1_5'UTR|SLC7A7_ENST00000397529.2_Missense_Mutation_p.V200I|SLC7A7_ENST00000397528.4_Missense_Mutation_p.V200I|SLC7A7_ENST00000555702.1_Missense_Mutation_p.V200I			Q9UM01	YLAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, y+L system), member 7	200					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|protein complex assembly (GO:0006461)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.00741)		ATGCCTGCAACGATGACCGCG	0.413																																						uc001wgr.3		NaN																	0				ovary(1)|breast(1)	2						c.(598-600)GTT>ATT		solute carrier family 7 member 7							116.0	106.0	109.0					14																	23249162		2203	4300	6503	SO:0001583	missense	9056				blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity	g.chr14:23249162C>T	AF092032	CCDS9574.1	14q11.2	2014-09-17	2011-07-12		ENSG00000155465	ENSG00000155465		"""Solute carriers"""	11065	protein-coding gene	gene with protein product		603593		LPI		9829974	Standard	NM_001126106		Approved	y+LAT-1	uc001wgs.4	Q9UM01	OTTHUMG00000028692	ENST00000397532.3:c.598G>A	14.37:g.23249162C>T	ENSP00000380666:p.Val200Ile					SLC7A7_uc001wgs.3_Missense_Mutation_p.V200I|SLC7A7_uc001wgt.3_Missense_Mutation_p.V200I|SLC7A7_uc001wgu.3_Missense_Mutation_p.V200I|SLC7A7_uc001wgv.3_Missense_Mutation_p.V200I	p.V200I	NM_003982	NP_003973	Q9UM01	YLAT1_HUMAN		GBM - Glioblastoma multiforme(265;0.00741)	3	736	-	all_cancers(95;8.44e-05)		200			Helical; (Potential).		B2RAU0|D3DS26|O95984|Q53XC1|Q86U07|Q9P2V5	Missense_Mutation	SNP	ENST00000397532.3	37	c.598G>A	CCDS9574.1	.	.	.	.	.	.	.	.	.	.	C	2.688	-0.273813	0.05679	.	.	ENSG00000155465	ENST00000285850;ENST00000555702;ENST00000397532;ENST00000404278;ENST00000397529;ENST00000397528	D;D;D;D;D	0.89552	-2.53;-2.53;-2.53;-2.53;-2.53	5.61	3.22	0.36961	Amino acid permease domain (1);	0.293400	0.36665	N	0.002461	T	0.68016	0.2955	N	0.02334	-0.595	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.62895	-0.6757	10	0.02654	T	1	.	9.5636	0.39385	0.0:0.1504:0.0:0.8496	.	200	Q9UM01	YLAT1_HUMAN	I	200;200;200;173;200;200	ENSP00000285850:V200I;ENSP00000451881:V200I;ENSP00000380666:V200I;ENSP00000380663:V200I;ENSP00000380662:V200I	ENSP00000285850:V200I	V	-	1	0	SLC7A7	22319002	1.000000	0.71417	1.000000	0.80357	0.813000	0.45954	0.705000	0.25675	0.966000	0.38159	-0.238000	0.12139	GTT		0.413	SLC7A7-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071636.3				18	53	0	0	0	0.016522	0	18	53		
MYH6	4624	broad.mit.edu	37	14	23866174	23866174	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr14:23866174C>A	ENST00000356287.3	-	17	2195	c.2166G>T	c.(2164-2166)caG>caT	p.Q722H	MYH6_ENST00000405093.3_Missense_Mutation_p.Q722H			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	722	Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		ATACCCACCTCTGCCGGAAGT	0.627																																						uc001wjv.2		NaN																	0				pancreas(2)|ovary(1)|skin(1)	4						c.(2164-2166)CAG>CAT		myosin heavy chain 6							55.0	56.0	55.0					14																	23866174		2203	4300	6503	SO:0001583	missense	4624				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	g.chr14:23866174C>A	D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.2166G>T	14.37:g.23866174C>A	ENSP00000348634:p.Gln722His						p.Q722H	NM_002471	NP_002462	P13533	MYH6_HUMAN		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	18	2233	-	all_cancers(95;2.54e-05)		722			Myosin head-like.		A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	37	c.2166G>T	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	.	18.12	3.553534	0.65425	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	D;D	0.88124	-2.34;-2.34	3.82	3.82	0.43975	Myosin head, motor domain (2);	.	.	.	.	D	0.91583	0.7341	M	0.75884	2.315	0.48632	D	0.999688	D	0.55800	0.973	D	0.65773	0.938	D	0.91657	0.5339	9	0.59425	D	0.04	.	10.9929	0.47559	0.0:0.9078:0.0:0.0922	.	722	P13533	MYH6_HUMAN	H	722	ENSP00000386041:Q722H;ENSP00000348634:Q722H	ENSP00000348634:Q722H	Q	-	3	2	MYH6	22936014	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.273000	0.43381	2.135000	0.66039	0.650000	0.86243	CAG		0.627	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3				22	60	1	0	8.88839e-20	0.010818	9.76554e-20	22	60		
DDX24	57062	broad.mit.edu	37	14	94527268	94527268	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr14:94527268C>T	ENST00000330836.5	-	4	1519	c.1388G>A	c.(1387-1389)cGg>cAg	p.R463Q	DDX24_ENST00000544005.1_Missense_Mutation_p.R213Q|DDX24_ENST00000555054.1_Missense_Mutation_p.R420Q	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	463	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				RNA metabolic process (GO:0016070)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		CCTGAGCTGCCGAAGGTTCCT	0.488																																						uc001ycj.2		NaN																	0				ovary(2)|kidney(1)|skin(1)	4						c.(1387-1389)CGG>CAG		DEAD (Asp-Glu-Ala-Asp) box polypeptide 24							85.0	80.0	82.0					14																	94527268		2203	4300	6503	SO:0001583	missense	57062				RNA metabolic process	cytoplasm|nucleolus|nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr14:94527268C>T	AF214731	CCDS9918.1	14q32	2013-07-16	2013-07-16			ENSG00000089737		"""DEAD-boxes"""	13266	protein-coding gene	gene with protein product		606181	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 24"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 24"""			10936056, 18289627	Standard	NM_020414		Approved		uc001ycj.3	Q9GZR7		ENST00000330836.5:c.1388G>A	14.37:g.94527268C>T	ENSP00000328690:p.Arg463Gln					DDX24_uc010twq.1_Missense_Mutation_p.R420Q|DDX24_uc010twr.1_Missense_Mutation_p.R213Q	p.R463Q	NM_020414	NP_065147	Q9GZR7	DDX24_HUMAN		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)	4	1487	-		all_cancers(154;0.12)	463			Helicase ATP-binding.		E7EMJ4|Q4V9L5	Missense_Mutation	SNP	ENST00000330836.5	37	c.1388G>A	CCDS9918.1	.	.	.	.	.	.	.	.	.	.	C	16.77	3.214399	0.58452	.	.	ENSG00000089737	ENST00000330836;ENST00000544005;ENST00000440370;ENST00000543787;ENST00000555054;ENST00000542247	T;T;T	0.14640	2.49;2.49;2.49	5.03	2.15	0.27550	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.112431	0.56097	D	0.000022	T	0.09905	0.0243	N	0.25201	0.72	0.27618	N	0.948424	P	0.47350	0.894	B	0.42495	0.389	T	0.10382	-1.0632	10	0.49607	T	0.09	-10.3982	10.4576	0.44559	0.0:0.7184:0.0:0.2816	.	463	Q9GZR7	DDX24_HUMAN	Q	463;213;408;89;420;420	ENSP00000328690:R463Q;ENSP00000440623:R213Q;ENSP00000452145:R420Q	ENSP00000328690:R463Q	R	-	2	0	DDX24	93597021	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	1.550000	0.36223	0.613000	0.30089	0.655000	0.94253	CGG		0.488	DDX24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412861.1		NM_020414		7	34	0	0	0	0.004482	0	7	34		
CLMN	79789	broad.mit.edu	37	14	95688091	95688091	+	Silent	SNP	C	C	T	rs189587823		TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr14:95688091C>T	ENST00000298912.4	-	4	374	c.261G>A	c.(259-261)tcG>tcA	p.S87S		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	87	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				negative regulation of cell proliferation (GO:0008285)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		TACGATGCGACGAGGATTTGT	0.443													C|||	1	0.000199681	0.0	0.0014	5008	,	,		21651	0.0		0.0	False		,,,				2504	0.0					uc001yef.2		NaN																	0					0						c.(259-261)TCG>TCA		calmin							109.0	98.0	101.0					14																	95688091		2203	4300	6503	SO:0001819	synonymous_variant	79789					integral to membrane	actin binding	g.chr14:95688091C>T	AB033014	CCDS9933.1	14q32.13	2012-10-02			ENSG00000165959	ENSG00000165959			19972	protein-coding gene	gene with protein product		611121				11386753	Standard	NM_024734		Approved	FLJ12383, KIAA1188, KIAA0500	uc001yef.2	Q96JQ2	OTTHUMG00000171629	ENST00000298912.4:c.261G>A	14.37:g.95688091C>T							p.S87S	NM_024734	NP_079010	Q96JQ2	CLMN_HUMAN		Epithelial(152;0.193)	4	377	-			87			Actin-binding.|CH 1.		B2RAR7|Q9H713|Q9HA23|Q9HA57|Q9UFP4|Q9ULN2	Silent	SNP	ENST00000298912.4	37	c.261G>A	CCDS9933.1																																																																																				0.443	CLMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414518.2				8	43	0	0	0	0.006214	0	8	43		
PAPOLA	10914	broad.mit.edu	37	14	97003321	97003321	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr14:97003321A>G	ENST00000216277.8	+	12	1259	c.1039A>G	c.(1039-1041)Atc>Gtc	p.I347V	PAPOLA_ENST00000392990.2_Missense_Mutation_p.I347V	NM_032632.4	NP_116021.2	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	347					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|RNA polyadenylation (GO:0043631)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)			breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		AGGTCTTGCTATCACAGATGA	0.308																																					NSCLC(19;254 734 11908 35501 39234)	uc001yfq.2		NaN																	0					0						c.(1039-1041)ATC>GTC		poly(A) polymerase alpha							81.0	79.0	79.0					14																	97003321		2203	4299	6502	SO:0001583	missense	10914				mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding	g.chr14:97003321A>G	X76770	CCDS9946.1, CCDS58334.1, CCDS58335.1	14q32.1-q32.2	2008-02-08				ENSG00000090060	2.7.7.19		14981	protein-coding gene	gene with protein product		605553				8302877, 10429366	Standard	NM_032632		Approved	PAP	uc001yfq.3	P51003		ENST00000216277.8:c.1039A>G	14.37:g.97003321A>G	ENSP00000216277:p.Ile347Val					PAPOLA_uc001yfr.2_Missense_Mutation_p.I347V|PAPOLA_uc010twv.1_Missense_Mutation_p.I347V|PAPOLA_uc010avp.2_Missense_Mutation_p.I97V	p.I347V	NM_032632	NP_116021	P51003	PAPOA_HUMAN		COAD - Colon adenocarcinoma(157;0.213)	12	1249	+		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)	347					Q86SX4|Q86TV0|Q8IYF5|Q9BVU2	Missense_Mutation	SNP	ENST00000216277.8	37	c.1039A>G	CCDS9946.1	.	.	.	.	.	.	.	.	.	.	A	8.280	0.815283	0.16607	.	.	ENSG00000090060	ENST00000216277;ENST00000546064;ENST00000392990;ENST00000555626	.	.	.	5.01	5.01	0.66863	Poly(A) polymerase, central domain (1);	0.054309	0.64402	D	0.000001	T	0.46268	0.1384	N	0.20766	0.605	0.58432	D	0.999999	B;B;B	0.24317	0.082;0.101;0.101	B;B;B	0.33750	0.033;0.169;0.083	T	0.37150	-0.9718	9	0.21014	T	0.42	.	15.0247	0.71659	1.0:0.0:0.0:0.0	.	363;363;347	F5H5I8;B4DYF4;P51003	.;.;PAPOA_HUMAN	V	347;363;347;97	.	ENSP00000216277:I347V	I	+	1	0	PAPOLA	96073074	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.014000	0.70784	2.002000	0.58637	0.528000	0.53228	ATC		0.308	PAPOLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413411.2				10	24	0	0	0	0.016723	0	10	24		
HSP90AA1	3320	broad.mit.edu	37	14	102549453	102549453	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr14:102549453T>C	ENST00000216281.8	-	9	1878	c.1673A>G	c.(1672-1674)aAa>aGa	p.K558R	HSP90AA1_ENST00000334701.7_Missense_Mutation_p.K680R|HSP90AA1_ENST00000441629.2_Missense_Mutation_p.K379R	NM_005348.3	NP_005339.3	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	558					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone-mediated protein complex assembly (GO:0051131)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|mitochondrial transport (GO:0006839)|mitotic cell cycle (GO:0000278)|nitric oxide metabolic process (GO:0046209)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|protein import into mitochondrial outer membrane (GO:0045040)|protein refolding (GO:0042026)|regulation of nitric-oxide synthase activity (GO:0050999)|response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|identical protein binding (GO:0042802)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Nedocromil(DB00716)|Rifabutin(DB00615)	ctgcttctttttctcttcttc	0.383																																						uc001yku.3		NaN																	0				ovary(2)|central_nervous_system(2)|prostate(1)|lung(1)|breast(1)	7						c.(1672-1674)AAA>AGA		heat shock 90kDa protein 1, alpha isoform 2	Rifabutin(DB00615)						65.0	64.0	64.0					14																	102549453		2203	4300	6503	SO:0001583	missense	3320				axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding	g.chr14:102549453T>C	M27024	CCDS9967.1, CCDS32160.1	14q32.33	2011-09-02	2006-02-24	2006-02-24	ENSG00000080824	ENSG00000080824		"""Heat shock proteins / HSPC"""	5253	protein-coding gene	gene with protein product		140571	"""heat shock 90kD protein 1, alpha"", ""heat shock 90kDa protein 1, alpha"""	HSPC1, HSPCA		2527334, 16269234	Standard	NM_001017963		Approved	Hsp89, Hsp90, FLJ31884, HSP90N	uc001ykv.4	P07900		ENST00000216281.8:c.1673A>G	14.37:g.102549453T>C	ENSP00000216281:p.Lys558Arg					HSP90AA1_uc001ykv.3_Missense_Mutation_p.K680R|HSP90AA1_uc001ykw.1_Missense_Mutation_p.K379R|HSP90AA1_uc001ykx.1_Missense_Mutation_p.K547R	p.K558R	NM_005348	NP_005339	P07900	HS90A_HUMAN			9	1863	-			558					A8K500|B3KPJ9|Q2PP14|Q5CAQ6|Q5CAQ7|Q9BVQ5	Missense_Mutation	SNP	ENST00000216281.8	37	c.1673A>G	CCDS9967.1	.	.	.	.	.	.	.	.	.	.	t	20.8	4.048672	0.75846	.	.	ENSG00000080824	ENST00000216281;ENST00000334701;ENST00000441629	T;T;T	0.15017	2.46;2.46;2.46	4.44	4.44	0.53790	.	0.000000	0.85682	U	0.000000	T	0.28300	0.0699	M	0.87971	2.92	0.80722	D	1	B;P;B	0.41673	0.018;0.759;0.442	B;B;B	0.39419	0.076;0.299;0.286	T	0.34354	-0.9832	10	0.87932	D	0	-28.1536	13.6857	0.62515	0.0:0.0:0.0:1.0	.	379;680;558	Q86U12;P07900-2;P07900	.;.;HS90A_HUMAN	R	558;680;379	ENSP00000216281:K558R;ENSP00000335153:K680R;ENSP00000396189:K379R	ENSP00000216281:K558R	K	-	2	0	HSP90AA1	101619206	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	5.955000	0.70306	1.780000	0.52325	0.533000	0.62120	AAA		0.383	HSP90AA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414952.2		NM_005348		9	15	0	0	0	0.004482	0	9	15		
ATP10A	57194	broad.mit.edu	37	15	25947187	25947187	+	Missense_Mutation	SNP	C	C	T	rs184009994	byFrequency	TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr15:25947187C>T	ENST00000356865.6	-	13	2747	c.2636G>A	c.(2635-2637)cGt>cAt	p.R879H		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	879					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GCCCGCTTGACGCAATTTAGA	0.527													C|||	2	0.000399361	0.0	0.0	5008	,	,		21880	0.002		0.0	False		,,,				2504	0.0					uc010ayu.2		NaN																	0				pancreas(2)|ovary(1)|breast(1)|liver(1)	5						c.(2635-2637)CGT>CAT		ATPase, class V, type 10A							137.0	130.0	132.0					15																	25947187		2203	4300	6503	SO:0001583	missense	57194				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:25947187C>T	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.2636G>A	15.37:g.25947187C>T	ENSP00000349325:p.Arg879His						p.R879H	NM_024490	NP_077816	O60312	AT10A_HUMAN		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	13	2742	-		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)	879			Cytoplasmic (Potential).		Q4G0S9|Q969I4	Missense_Mutation	SNP	ENST00000356865.6	37	c.2636G>A	CCDS32178.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	13.66	2.303515	0.40795	.	.	ENSG00000206190	ENST00000356865	T	0.60299	0.2	5.31	3.43	0.39272	HAD-like domain (2);	0.150102	0.64402	N	0.000020	T	0.57373	0.2049	M	0.72894	2.215	0.46458	D	0.999057	P	0.46395	0.877	B	0.43754	0.43	T	0.55742	-0.8093	10	0.33940	T	0.23	-10.9171	11.5802	0.50887	0.0:0.8546:0.0:0.1454	.	879	O60312	AT10A_HUMAN	H	879	ENSP00000349325:R879H	ENSP00000349325:R879H	R	-	2	0	ATP10A	23498280	0.998000	0.40836	0.337000	0.25536	0.057000	0.15508	3.882000	0.56160	0.621000	0.30232	-0.258000	0.10820	CGT		0.527	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1		NM_024490		22	76	0	0	0	0.016522	0	22	76		
SLC12A1	6557	broad.mit.edu	37	15	48541868	48541868	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr15:48541868C>A	ENST00000558405.1	+	13	1795	c.1781C>A	c.(1780-1782)tCt>tAt	p.S594Y	SLC12A1_ENST00000380993.3_Missense_Mutation_p.S594Y|SLC12A1_ENST00000396577.3_Missense_Mutation_p.S594Y			Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	594					cell death (GO:0008219)|chemical homeostasis (GO:0048878)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|kidney development (GO:0001822)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:potassium:chloride symporter activity (GO:0008511)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Potassium Chloride(DB00761)|Quinethazone(DB01325)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	TATGCCAAATCTCCAGGTAAG	0.388																																						uc001zwn.3		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(1780-1782)TCT>TAT		sodium potassium chloride cotransporter 2	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)						210.0	175.0	187.0					15																	48541868		2198	4297	6495	SO:0001583	missense	6557				potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity	g.chr15:48541868C>A		CCDS10129.2, CCDS53940.1	15q15-q21	2013-07-18	2013-07-18		ENSG00000074803	ENSG00000074803		"""Solute carriers"""	10910	protein-coding gene	gene with protein product		600839				8640224	Standard	NM_000338		Approved	NKCC2	uc010bem.3	Q13621	OTTHUMG00000131495	ENST00000558405.1:c.1781C>A	15.37:g.48541868C>A	ENSP00000453409:p.Ser594Tyr					SLC12A1_uc010uew.1_Missense_Mutation_p.S400Y|SLC12A1_uc010bem.2_Missense_Mutation_p.S594Y|SLC12A1_uc001zwq.3_Missense_Mutation_p.S365Y|SLC12A1_uc001zwr.3_Missense_Mutation_p.S321Y	p.S594Y	NM_000338	NP_000329	Q13621	S12A1_HUMAN		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	14	1997	+		all_lung(180;0.00219)	594			Cytoplasmic (Potential).		A8JYA2|E9PDW4	Missense_Mutation	SNP	ENST00000558405.1	37	c.1781C>A	CCDS10129.2	.	.	.	.	.	.	.	.	.	.	C	23.4	4.415273	0.83449	.	.	ENSG00000074803	ENST00000428362;ENST00000380993;ENST00000396577	D;D	0.98585	-5.01;-5.01	5.69	5.69	0.88448	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.99348	0.9771	H	0.95114	3.625	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	D	0.98771	1.0728	10	0.87932	D	0	.	19.8013	0.96509	0.0:1.0:0.0:0.0	.	594;594	E9PDW4;Q13621	.;S12A1_HUMAN	Y	407;594;594	ENSP00000370381:S594Y;ENSP00000379822:S594Y	ENSP00000370381:S594Y	S	+	2	0	SLC12A1	46329160	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	7.818000	0.86416	2.684000	0.91462	0.557000	0.71058	TCT		0.388	SLC12A1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417131.1				10	48	1	0	1.08611e-07	0.010729	1.16269e-07	10	48		
CGNL1	84952	broad.mit.edu	37	15	57730261	57730261	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr15:57730261G>A	ENST00000281282.5	+	2	142	c.64G>A	c.(64-66)Gca>Aca	p.A22T		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	22	Head.					myosin complex (GO:0016459)|tight junction (GO:0005923)	motor activity (GO:0003774)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		TCTGAGACTCGCAAGTGATGA	0.493																																						uc002aeg.2		NaN																	0				skin(6)|ovary(4)|central_nervous_system(1)	11						c.(64-66)GCA>ACA		cingulin-like 1							172.0	181.0	178.0					15																	57730261		2192	4292	6484	SO:0001583	missense	84952					myosin complex|tight junction	motor activity	g.chr15:57730261G>A	AY274808	CCDS10161.1	15q21.3	2011-06-10			ENSG00000128849	ENSG00000128849			25931	protein-coding gene	gene with protein product		607856				11214970	Standard	NM_001252335		Approved	FLJ14957, JACOP, KIAA1749, paracingulin	uc002aeg.3	Q0VF96	OTTHUMG00000166485	ENST00000281282.5:c.64G>A	15.37:g.57730261G>A	ENSP00000281282:p.Ala22Thr					CGNL1_uc010bfw.2_Missense_Mutation_p.A22T	p.A22T	NM_032866	NP_116255	Q0VF96	CGNL1_HUMAN		all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)	2	140	+			22			Head.		Q05BZ4|Q52LR0|Q695C7|Q7Z2L3|Q96JV2|Q96MN6|Q9C0B4	Missense_Mutation	SNP	ENST00000281282.5	37	c.64G>A	CCDS10161.1	.	.	.	.	.	.	.	.	.	.	G	18.34	3.603130	0.66445	.	.	ENSG00000128849	ENST00000281282	T	0.10573	2.86	4.71	4.71	0.59529	.	0.165809	0.28583	N	0.014832	T	0.21718	0.0523	L	0.54323	1.7	0.31476	N	0.667739	D	0.69078	0.997	P	0.53760	0.734	T	0.03651	-1.1016	10	0.72032	D	0.01	-14.032	16.0321	0.80585	0.0:0.0:1.0:0.0	.	22	Q0VF96	CGNL1_HUMAN	T	22	ENSP00000281282:A22T	ENSP00000281282:A22T	A	+	1	0	CGNL1	55517553	0.614000	0.27017	0.541000	0.28102	0.456000	0.32438	2.592000	0.46171	2.443000	0.82685	0.561000	0.74099	GCA		0.493	CGNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255482.2		NM_032866		70	179	0	0	0	0.01441	0	70	179		
DPP8	54878	broad.mit.edu	37	15	65756226	65756226	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr15:65756226G>A	ENST00000341861.5	-	15	3472	c.1892C>T	c.(1891-1893)aCt>aTt	p.T631I	DPP8_ENST00000339244.5_Missense_Mutation_p.T458I|DPP8_ENST00000559233.1_Missense_Mutation_p.T631I|DPP8_ENST00000321147.6_Missense_Mutation_p.T631I|DPP8_ENST00000358939.4_Missense_Mutation_p.T615I|DPP8_ENST00000321118.7_Missense_Mutation_p.T631I|DPP8_ENST00000300141.6_Missense_Mutation_p.T615I	NM_197960.2	NP_932064.1	Q6V1X1	DPP8_HUMAN	dipeptidyl-peptidase 8	631					immune response (GO:0006955)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TTCTGGAGGAGTATAGTCAGG	0.378																																						uc002aov.2		NaN																	0				ovary(1)	1						c.(1891-1893)ACT>ATT		dipeptidyl peptidase 8 isoform 1							66.0	67.0	67.0					15																	65756226		2201	4299	6500	SO:0001583	missense	54878				immune response|proteolysis	cytoplasm|membrane|nucleus	aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity	g.chr15:65756226G>A	AF221634	CCDS10207.1, CCDS10208.1, CCDS10209.1, CCDS10210.1	15q22	2008-07-18	2006-01-12		ENSG00000074603	ENSG00000074603			16490	protein-coding gene	gene with protein product	"""dipeptidyl peptidase VIII"", ""dipeptidyl peptidase IV-related protein-1"", ""prolyl dipeptidase DPP8"""	606819	"""dipeptidylpeptidase 8"""			11012666	Standard	XM_005254500		Approved	DP8, DPRP1, MSTP141, FLJ14920, FLJ20283, MGC26191	uc002aox.3	Q6V1X1	OTTHUMG00000133150	ENST00000341861.5:c.1892C>T	15.37:g.65756226G>A	ENSP00000339208:p.Thr631Ile					DPP8_uc002aow.2_Missense_Mutation_p.T631I|DPP8_uc010uiv.1_RNA|DPP8_uc002aox.2_Missense_Mutation_p.T615I|DPP8_uc002aoy.2_Missense_Mutation_p.T631I|DPP8_uc002aoz.2_Missense_Mutation_p.T615I|DPP8_uc010bhj.2_Missense_Mutation_p.T631I|DPP8_uc002apa.2_Missense_Mutation_p.T528I|DPP8_uc010bhi.2_5'UTR|DPP8_uc010bhk.1_Missense_Mutation_p.T200I	p.T631I	NM_130434	NP_569118	Q6V1X1	DPP8_HUMAN			15	3470	-			631					Q7Z4C8|Q7Z4D3|Q7Z4E1|Q8IWG7|Q8NEM5|Q96JX1|Q9HBM2|Q9HBM3|Q9HBM4|Q9HBM5|Q9NXF4	Missense_Mutation	SNP	ENST00000341861.5	37	c.1892C>T	CCDS10207.1	.	.	.	.	.	.	.	.	.	.	G	8.917	0.960066	0.18507	.	.	ENSG00000074603	ENST00000341861;ENST00000358939;ENST00000300141;ENST00000321147;ENST00000321118;ENST00000339244;ENST00000395652	T;T	0.46063	0.88;0.88	5.74	5.74	0.90152	.	0.078228	0.53938	D	0.000044	T	0.19485	0.0468	N	0.04116	-0.275	0.35258	D	0.77933	B;B;B;B;B	0.19200	0.034;0.0;0.0;0.001;0.0	B;B;B;B;B	0.20955	0.032;0.001;0.001;0.003;0.001	T	0.28106	-1.0054	10	0.22109	T	0.4	-13.0121	7.5013	0.27520	0.1952:0.0:0.8048:0.0	.	458;615;615;631;631	C9JSG1;Q6V1X1-3;Q6V1X1-4;Q6V1X1-2;Q6V1X1	.;.;.;.;DPP8_HUMAN	I	631;615;615;631;631;458;631	ENSP00000339208:T631I;ENSP00000300141:T615I	ENSP00000300141:T615I	T	-	2	0	DPP8	63543279	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.371000	0.44248	2.720000	0.93068	0.650000	0.86243	ACT		0.378	DPP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256847.1		NM_017743		17	26	0	0	0	0.007413	0	17	26		
PTPN9	5780	broad.mit.edu	37	15	75762295	75762295	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr15:75762295G>T	ENST00000306726.2	-	12	1917	c.1405C>A	c.(1405-1407)Cca>Aca	p.P469T		NM_002833.2	NP_002824.1	P43378	PTN9_HUMAN	protein tyrosine phosphatase, non-receptor type 9	469	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|protein tyrosine phosphatase activity (GO:0004725)			central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CCATAGTCTGGCCAGCTCAAG	0.507																																						uc002bal.2		NaN																	0				lung(1)|skin(1)	2						c.(1405-1407)CCA>ACA		protein tyrosine phosphatase, non-receptor type							114.0	90.0	98.0					15																	75762295		2197	4294	6491	SO:0001583	missense	5780					cytoplasmic part	non-membrane spanning protein tyrosine phosphatase activity|protein binding	g.chr15:75762295G>T		CCDS10280.1	15q23	2011-06-09			ENSG00000169410	ENSG00000169410		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9661	protein-coding gene	gene with protein product		600768				1557404	Standard	NM_002833		Approved	MEG2	uc002bal.3	P43378	OTTHUMG00000142838	ENST00000306726.2:c.1405C>A	15.37:g.75762295G>T	ENSP00000303554:p.Pro469Thr						p.P469T	NM_002833	NP_002824	P43378	PTN9_HUMAN			12	1913	-			469			Tyrosine-protein phosphatase.		Q53XR9	Missense_Mutation	SNP	ENST00000306726.2	37	c.1405C>A	CCDS10280.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.043647	0.93685	.	.	ENSG00000169410	ENST00000306726;ENST00000544966	T	0.25250	1.81	5.78	5.78	0.91487	Protein-tyrosine phosphatase, receptor/non-receptor type (4);	0.052511	0.85682	D	0.000000	T	0.51176	0.1659	M	0.89715	3.055	0.80722	D	1	P	0.45902	0.868	P	0.49829	0.623	T	0.60811	-0.7189	10	0.87932	D	0	.	18.5984	0.91239	0.0:0.0:1.0:0.0	.	469	P43378	PTN9_HUMAN	T	469;459	ENSP00000303554:P469T	ENSP00000303554:P469T	P	-	1	0	PTPN9	73549348	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.027000	0.93706	2.730000	0.93505	0.655000	0.94253	CCA		0.507	PTPN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286474.1				15	48	1	0	5.01169e-05	0.00499	5.16638e-05	15	48		
IREB2	3658	broad.mit.edu	37	15	78790398	78790398	+	Silent	SNP	C	C	T			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr15:78790398C>T	ENST00000258886.8	+	22	2954	c.2805C>T	c.(2803-2805)agC>agT	p.S935S		NM_004136.2	NP_004127	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	935					aging (GO:0007568)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|erythrocyte homeostasis (GO:0034101)|intestinal absorption (GO:0050892)|iron ion transport (GO:0006826)|osteoclast differentiation (GO:0030316)|post-embryonic development (GO:0009791)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to iron(II) ion (GO:0010040)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|translation repressor activity (GO:0030371)			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		AAGTATTCAGCGTGATTGCTT	0.363																																					NSCLC(200;764 2208 35157 49871 50830)	uc002bdr.2		NaN																	0					0						c.(2803-2805)AGC>AGT		iron-responsive element binding protein 2							147.0	132.0	137.0					15																	78790398		2196	4293	6489	SO:0001819	synonymous_variant	3658						4 iron, 4 sulfur cluster binding|metal ion binding|protein binding	g.chr15:78790398C>T	M58511	CCDS10302.1	15q25.1	2013-09-20			ENSG00000136381	ENSG00000136381			6115	protein-coding gene	gene with protein product		147582				2172968	Standard	NM_004136		Approved	IRP2	uc002bdr.2	P48200	OTTHUMG00000143861	ENST00000258886.8:c.2805C>T	15.37:g.78790398C>T						IREB2_uc010unb.1_Silent_p.S685S	p.S935S	NM_004136	NP_004127	P48200	IREB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (272;0.232)	22	2967	+			935					A8KAC7|E1CJT9|H0YKU0|Q13095|Q1HE21|Q59FQ7|Q8WVK6|Q9UF17	Silent	SNP	ENST00000258886.8	37	c.2805C>T	CCDS10302.1																																																																																				0.363	IREB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290109.3		NM_004136		5	53	0	0	0	0.014758	0	5	53		
ADAMTS7	11173	broad.mit.edu	37	15	79060507	79060507	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr15:79060507C>A	ENST00000388820.4	-	17	2823	c.2613G>T	c.(2611-2613)caG>caT	p.Q871H	ADAMTS7_ENST00000566303.1_5'UTR	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	871	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						TGCACTTCCTCTGTTGGTCAT	0.697																																						uc002bej.3		NaN																	0					0						c.(2611-2613)CAG>CAT		ADAM metallopeptidase with thrombospondin type 1							22.0	23.0	23.0					15																	79060507		2192	4289	6481	SO:0001583	missense	11173				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:79060507C>A	AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	223	protein-coding gene	gene with protein product	"""COMPase"", ""a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"""	605009	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"""			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.2613G>T	15.37:g.79060507C>A	ENSP00000373472:p.Gln871His					ADAMTS7_uc010und.1_Missense_Mutation_p.Q447H	p.Q871H	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN			17	2824	-			871			TSP type-1 2.		Q14F51|Q6P7J9	Missense_Mutation	SNP	ENST00000388820.4	37	c.2613G>T	CCDS32303.1	.	.	.	.	.	.	.	.	.	.	C	9.642	1.139293	0.21205	.	.	ENSG00000136378	ENST00000388820;ENST00000456326	T	0.52754	0.65	4.57	2.59	0.31030	.	0.224065	0.37809	N	0.001939	T	0.52208	0.1720	M	0.81497	2.545	0.37311	D	0.909115	B;B	0.17852	0.001;0.024	B;B	0.29598	0.002;0.104	T	0.55490	-0.8133	10	0.41790	T	0.15	.	13.1432	0.59446	0.0:0.6917:0.3083:0.0	.	447;871	E7EP58;Q9UKP4	.;ATS7_HUMAN	H	871;447	ENSP00000373472:Q871H	ENSP00000373472:Q871H	Q	-	3	2	ADAMTS7	76847562	0.083000	0.21467	0.271000	0.24616	0.524000	0.34500	0.176000	0.16782	0.322000	0.23283	0.471000	0.43371	CAG		0.697	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1		NM_014272		7	18	1	0	5.18039e-06	0.00308	5.37345e-06	7	18		
CCDC78	124093	broad.mit.edu	37	16	775266	775266	+	Missense_Mutation	SNP	C	C	T	rs369344548		TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr16:775266C>T	ENST00000293889.6	-	5	568	c.463G>A	c.(463-465)Gag>Aag	p.E155K	HAGHL_ENST00000549114.1_5'Flank|HAGHL_ENST00000341413.4_5'Flank|HAGHL_ENST00000561546.1_5'Flank|HAGHL_ENST00000564537.1_5'Flank|HAGHL_ENST00000564545.1_5'Flank|HAGHL_ENST00000389703.3_5'Flank	NM_001031737.2	NP_001026907.2	A2IDD5	CCD78_HUMAN	coiled-coil domain containing 78	155					cell projection organization (GO:0030030)|de novo centriole assembly (GO:0098535)|skeletal muscle contraction (GO:0003009)	centriole (GO:0005814)|deuterosome (GO:0098536)|perinuclear region of cytoplasm (GO:0048471)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(2)|skin(3)	9		Hepatocellular(780;0.0218)				TGCTCATTCTCGGGGTTCATG	0.627																																						uc002cjg.2		NaN																	0				central_nervous_system(1)	1						c.(463-465)GAG>AAG		coiled-coil domain containing 78							68.0	78.0	75.0					16																	775266		2188	4289	6477	SO:0001583	missense	124093							g.chr16:775266C>T	BC042110	CCDS32353.1	16p13.3	2014-07-15		2006-02-20	ENSG00000162004	ENSG00000162004			14153	protein-coding gene	gene with protein product		614666		C16orf25		24075808	Standard	NM_001031737		Approved	FLJ34512	uc002cjg.3	A2IDD5	OTTHUMG00000121176	ENST00000293889.6:c.463G>A	16.37:g.775266C>T	ENSP00000293889:p.Glu155Lys					CCDC78_uc002cjf.2_Missense_Mutation_p.E4K|CCDC78_uc002cji.3_Missense_Mutation_p.E229K|CCDC78_uc002cjj.3_Missense_Mutation_p.E99K|CCDC78_uc002cjh.2_5'UTR|CCDC78_uc010uuo.1_Missense_Mutation_p.E155K|CCDC78_uc002cjk.2_Missense_Mutation_p.E144K|HAGHL_uc002cjl.1_5'Flank|HAGHL_uc002cjm.1_5'Flank|HAGHL_uc002cjn.1_5'Flank|HAGHL_uc002cjo.1_5'Flank|HAGHL_uc010uup.1_5'Flank	p.E155K	NM_001031737	NP_001026907	A2IDD5	CCD78_HUMAN			5	569	-		Hepatocellular(780;0.0218)	155					B4DNY4|B4E1U6|Q05BY7|Q05CA0|Q6T2V5|Q6ZR33|Q8IUR3|Q8NAY7|Q96S12	Missense_Mutation	SNP	ENST00000293889.6	37	c.463G>A	CCDS32353.1	.	.	.	.	.	.	.	.	.	.	C	8.982	0.975668	0.18736	.	.	ENSG00000162004	ENST00000293889	T	0.44482	0.92	3.65	-2.49	0.06403	.	0.763514	0.11479	N	0.559898	T	0.18002	0.0432	N	0.20986	0.625	0.09310	N	1	B;B;B;P;B;B	0.35527	0.078;0.078;0.044;0.507;0.004;0.012	B;B;B;B;B;B	0.18871	0.011;0.011;0.007;0.023;0.004;0.005	T	0.11275	-1.0594	10	0.27785	T	0.31	-0.9822	4.7508	0.13059	0.0:0.4488:0.1527:0.3984	.	155;144;155;229;155;4	A2IDD5-4;A2IDD5-6;A2IDD5-3;A2IDD5-5;A2IDD5;D3DU61	.;.;.;.;CCD78_HUMAN;.	K	155	ENSP00000293889:E155K	ENSP00000293889:E155K	E	-	1	0	CCDC78	715267	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.205000	0.01232	-0.582000	0.05929	-0.440000	0.05779	GAG		0.627	CCDC78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241665.3		NM_173476		22	108	0	0	0	0.010818	0	22	108		
SRRM2	23524	broad.mit.edu	37	16	2818182	2818182	+	Silent	SNP	G	G	C	rs149616150	byFrequency	TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr16:2818182G>C	ENST00000301740.8	+	11	8202	c.7653G>C	c.(7651-7653)tcG>tcC	p.S2551S	SRRM2_ENST00000574593.1_3'UTR|AC092117.2_ENST00000581119.1_RNA	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2551	Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						cgtcgtcgtcgtcctcctcct	0.577													g|||	5	0.000998403	0.0008	0.0029	5008	,	,		16692	0.001		0.001	False		,,,				2504	0.0					uc002crk.2		NaN																	0				ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						c.(7651-7653)TCG>TCC		splicing coactivator subunit SRm300		G		0,4396		0,0,2198	66.0	58.0	61.0		7653	-11.8	0.0	16	dbSNP_134	61	4,8596	3.0+/-9.4	0,4,4296	no	coding-synonymous	SRRM2	NM_016333.3		0,4,6494	CC,CG,GG		0.0465,0.0,0.0308		2551/2753	2818182	4,12992	2198	4300	6498	SO:0001819	synonymous_variant	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2818182G>C	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.7653G>C	16.37:g.2818182G>C						SRRM2_uc002crj.1_Silent_p.S2455S|SRRM2_uc002crl.1_Silent_p.S2551S|SRRM2_uc010bsu.1_Silent_p.S2455S	p.S2551S	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN			11	8202	+			2551			Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Silent	SNP	ENST00000301740.8	37	c.7653G>C	CCDS32373.1																																																																																				0.577	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1				11	10	0	0	0	0.013537	0	11	10		
CREBBP	1387	broad.mit.edu	37	16	3779153	3779153	+	Silent	SNP	C	C	T			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr16:3779153C>T	ENST00000262367.5	-	31	6704	c.5895G>A	c.(5893-5895)gaG>gaA	p.E1965E	CREBBP_ENST00000382070.3_Silent_p.E1927E	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1965					cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GCTGCTGGGCCTCACGCTCGA	0.711			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																															uc002cvv.2		NaN		Dom/Rec	yes		16	16p13.3	1387	T|N|F|Mis|O	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	MLL|MORF|RUNXBP2		ALL|AML|DLBCL|B-NHL 		0				haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127						c.(5893-5895)GAG>GAA		CREB binding protein isoform a							16.0	14.0	15.0					16																	3779153		2172	4255	6427	SO:0001819	synonymous_variant	1387	Rubinstein-Taybi_syndrome			cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3779153C>T	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.5895G>A	16.37:g.3779153C>T						CREBBP_uc002cvw.2_Silent_p.E1927E	p.E1965E	NM_004380	NP_004371	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	31	6099	-		Ovarian(90;0.0266)	1965					D3DUC9|O00147|Q16376|Q4LE28	Silent	SNP	ENST00000262367.5	37	c.5895G>A	CCDS10509.1																																																																																				0.711	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2		NM_004380		3	6	0	0	0	0.004672	0	3	6		
ABR	29	broad.mit.edu	37	17	1028677	1028677	+	Silent	SNP	G	G	A			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr17:1028677G>A	ENST00000302538.5	-	2	233	c.87C>T	c.(85-87)taC>taT	p.Y29Y	ABR_ENST00000544583.2_De_novo_Start_OutOfFrame|ABR_ENST00000574437.1_De_novo_Start_OutOfFrame	NM_001282149.1|NM_021962.3	NP_001269078.1|NP_068781.2	Q12979	ABR_HUMAN	active BCR-related	29					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phagocytosis (GO:0050766)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		CCTCTCCGTCGTACTCGTCCG	0.627																																					Esophageal Squamous(197;2016 2115 4129 29033 46447)	uc002fsd.2		NaN																	0				upper_aerodigestive_tract(1)	1						c.(85-87)TAC>TAT		active breakpoint cluster region-related							112.0	103.0	106.0					17																	1028677		2203	4300	6503	SO:0001819	synonymous_variant	29				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr17:1028677G>A	L19704	CCDS10999.1, CCDS11000.1, CCDS54060.1, CCDS58497.1, CCDS73936.1	17p13	2013-01-10	2012-02-27		ENSG00000159842	ENSG00000159842		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	81	protein-coding gene	gene with protein product		600365	"""active BCR-related gene"""			2587217, 7479768	Standard	NM_001092		Approved	MDB	uc002fsd.4	Q12979	OTTHUMG00000090313	ENST00000302538.5:c.87C>T	17.37:g.1028677G>A						ABR_uc002fse.2_Translation_Start_Site|ABR_uc010cjq.1_Silent_p.Y41Y	p.Y29Y	NM_021962	NP_068781	Q12979	ABR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)	2	197	-			29					B3KW89|B7Z6H7|D3DTH3|D3DTH4|F5H3S2|F5H8B3|Q13693|Q13694	Silent	SNP	ENST00000302538.5	37	c.87C>T	CCDS10999.1																																																																																				0.627	ABR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206675.4				44	142	0	0	0	0.01441	0	44	142		
SPECC1	92521	broad.mit.edu	37	17	20108086	20108086	+	Missense_Mutation	SNP	G	G	A	rs144644210		TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr17:20108086G>A	ENST00000261503.5	+	4	775	c.724G>A	c.(724-726)Gat>Aat	p.D242N	SPECC1_ENST00000395522.2_Missense_Mutation_p.D161N|SPECC1_ENST00000472876.1_Intron|SPECC1_ENST00000395525.3_Missense_Mutation_p.D161N|SPECC1_ENST00000395527.4_Missense_Mutation_p.D242N|SPECC1_ENST00000584527.1_5'Flank|AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000536879.1_Intron|SPECC1_ENST00000395529.3_Missense_Mutation_p.D242N|SPECC1_ENST00000395530.2_Missense_Mutation_p.D161N	NM_001033553.2	NP_001028725.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1	242					cell adhesion (GO:0007155)	nucleus (GO:0005634)				breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		AGAGCTTTCCGATCTAGAGGA	0.498																																						uc002gwq.2		NaN																	0					0						c.(724-726)GAT>AAT		spectrin domain with coiled-coils 1 NSP5b3b		G	ASN/ASP,ASN/ASP,ASN/ASP,ASN/ASP	4,4402	8.1+/-20.4	0,4,2199	110.0	123.0	119.0		724,481,481,724	-2.2	0.0	17	dbSNP_134	119	0,8600		0,0,4300	no	missense,missense,missense,missense	SPECC1	NM_001033553.2,NM_001033554.2,NM_001033555.2,NM_152904.4	23,23,23,23	0,4,6499	AA,AG,GG		0.0,0.0908,0.0308	benign,benign,benign,benign	242/1069,161/710,161/988,242/791	20108086	4,13002	2203	4300	6503	SO:0001583	missense	92521					nucleus		g.chr17:20108086G>A	AY816329, AB041533	CCDS32590.1, CCDS42280.1, CCDS42281.1, CCDS45628.1, CCDS58531.1	17p11.2	2012-11-19	2010-09-17	2010-09-17	ENSG00000128487	ENSG00000128487			30615	protein-coding gene	gene with protein product	"""sperm antigen HCMOGT 1"", ""cytokinesis and spindle organization B"", ""cytospin B"""	608793				15602574, 18763323, 15087372	Standard	NM_001033553		Approved	HCMOGT-1, FLJ36955, NSP, CYTSB	uc002gwq.3	Q5M775	OTTHUMG00000179808	ENST00000261503.5:c.724G>A	17.37:g.20108086G>A	ENSP00000261503:p.Asp242Asn					CYTSB_uc010cqx.2_Missense_Mutation_p.D242N|CYTSB_uc002gwr.2_Missense_Mutation_p.D242N|CYTSB_uc002gws.2_Missense_Mutation_p.D242N|CYTSB_uc002gwv.2_Missense_Mutation_p.D161N|CYTSB_uc010vzf.1_Intron|CYTSB_uc002gww.2_Missense_Mutation_p.D18N|CYTSB_uc002gwt.2_Missense_Mutation_p.D161N|CYTSB_uc002gwu.2_Missense_Mutation_p.D161N	p.D242N	NM_001033553	NP_001028725	Q5M775	CYTSB_HUMAN			4	869	+			242					B4DHH0|B7WNS8|Q5IBP1|Q5IBP2|Q5IBP3|Q5IBP4|Q5M772|Q5M773|Q5M774|Q86XT8|Q8N4U4|Q8WU84|Q9HCQ3	Missense_Mutation	SNP	ENST00000261503.5	37	c.724G>A	CCDS32590.1	.	.	.	.	.	.	.	.	.	.	G	0.629	-0.817990	0.02776	9.08E-4	0.0	ENSG00000128487	ENST00000395530;ENST00000261503;ENST00000395529;ENST00000395522;ENST00000395527;ENST00000395525	T;T;T;T	0.63417	-0.04;2.95;2.96;2.95	5.28	-2.18	0.07037	.	1.143290	0.06043	N	0.655220	T	0.43255	0.1239	L	0.43152	1.355	0.09310	N	1	P;P;P;P;B	0.46020	0.531;0.583;0.871;0.772;0.214	B;B;B;B;B	0.37267	0.03;0.079;0.245;0.245;0.03	T	0.32693	-0.9897	10	0.15499	T	0.54	-1.9563	2.95	0.05859	0.2027:0.2867:0.3979:0.1127	.	242;161;161;242;242	A8MV89;Q5M775-4;Q5M775-3;Q5M775-2;Q5M775	.;.;.;.;CYTSB_HUMAN	N	242;242;242;161;161;161	ENSP00000261503:D242N;ENSP00000378900:D242N;ENSP00000378893:D161N;ENSP00000378896:D161N	ENSP00000261503:D242N	D	+	1	0	SPECC1	20048678	0.001000	0.12720	0.000000	0.03702	0.152000	0.21847	0.718000	0.25866	-0.509000	0.06532	-1.899000	0.00529	GAT		0.498	SPECC1-018	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441206.1		NM_152904		28	110	0	0	0	0.008361	0	28	110		
NBR1	4077	broad.mit.edu	37	17	41343528	41343528	+	Missense_Mutation	SNP	A	A	T			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr17:41343528A>T	ENST00000422280.1	+	10	1462	c.1003A>T	c.(1003-1005)Atc>Ttc	p.I335F	NBR1_ENST00000542611.1_Missense_Mutation_p.I314F|NBR1_ENST00000589872.1_Missense_Mutation_p.I335F|NBR1_ENST00000389312.4_Missense_Mutation_p.I335F|NBR1_ENST00000341165.6_Missense_Mutation_p.I335F|NBR1_ENST00000590996.1_Missense_Mutation_p.I335F	NM_031858.2	NP_114064.1	Q14596	NBR1_HUMAN	neighbor of BRCA1 gene 1	335					macroautophagy (GO:0016236)|negative regulation of osteoblast differentiation (GO:0045668)|protein oligomerization (GO:0051259)|regulation of bone mineralization (GO:0030500)|regulation of stress-activated MAPK cascade (GO:0032872)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|pre-autophagosomal structure (GO:0000407)	mitogen-activated protein kinase binding (GO:0051019)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	24		Breast(137;0.00086)		BRCA - Breast invasive adenocarcinoma(366;0.0934)		GTGGAATTCAATCCATGGACT	0.478																																						uc010czd.2		NaN																	0				skin(1)	1						c.(1003-1005)ATC>TTC		neighbor of BRCA1 gene 1							42.0	42.0	42.0					17																	41343528		1849	4098	5947	SO:0001583	missense	4077				macroautophagy|protein oligomerization	autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere	ubiquitin binding|zinc ion binding	g.chr17:41343528A>T	X76952	CCDS45694.1	17q21.31	2008-02-01	2005-02-15	2005-02-16		ENSG00000188554			6746	protein-coding gene	gene with protein product		166945	"""membrane component, chromosome 17, surface marker 2 (ovarian carcinoma antigen CA125)"""	M17S2		8069304	Standard	XM_006721903		Approved	CA125, KIAA0049, 1A1-3B	uc010whv.2	Q14596		ENST00000422280.1:c.1003A>T	17.37:g.41343528A>T	ENSP00000411250:p.Ile335Phe					NBR1_uc010diz.2_Missense_Mutation_p.I335F|NBR1_uc010whu.1_Missense_Mutation_p.I335F|NBR1_uc010whv.1_Missense_Mutation_p.I335F|NBR1_uc010whw.1_Missense_Mutation_p.I314F|NBR1_uc010whx.1_Missense_Mutation_p.I144F	p.I335F	NM_031862	NP_114068	Q14596	NBR1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0934)	10	1143	+		Breast(137;0.00086)	335					Q13173|Q15026|Q5J7Q8|Q96GB6|Q9NRF7	Missense_Mutation	SNP	ENST00000422280.1	37	c.1003A>T	CCDS45694.1	.	.	.	.	.	.	.	.	.	.	A	12.30	1.896071	0.33442	.	.	ENSG00000188554	ENST00000422280;ENST00000542611;ENST00000341165;ENST00000389312;ENST00000389311	T;T;T;T	0.46451	1.44;0.87;1.44;1.45	5.37	1.84	0.25277	.	0.435362	0.27060	N	0.021126	T	0.17789	0.0427	N	0.08118	0	0.24003	N	0.996209	P;P;P;P	0.40970	0.734;0.734;0.543;0.734	B;B;B;B	0.40038	0.157;0.235;0.317;0.157	T	0.18618	-1.0331	10	0.10377	T	0.69	-3.584	5.603	0.17365	0.5837:0.278:0.1383:0.0	.	335;314;335;335	A8K1U0;B7Z5R6;Q14596-2;Q14596	.;.;.;NBR1_HUMAN	F	335;314;335;335;335	ENSP00000411250:I335F;ENSP00000437545:I314F;ENSP00000343479:I335F;ENSP00000373963:I335F	ENSP00000343479:I335F	I	+	1	0	NBR1	38597054	0.799000	0.28903	0.504000	0.27639	0.982000	0.71751	1.364000	0.34171	0.315000	0.23110	0.533000	0.62120	ATC		0.478	NBR1-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453461.1		NM_005899		3	11	0	0	0	0.009096	0	3	11		
CACNA1G	8913	broad.mit.edu	37	17	48649340	48649340	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr17:48649340G>A	ENST00000359106.5	+	5	688	c.688G>A	c.(688-690)Gtc>Atc	p.V230I	CACNA1G_ENST00000513689.2_Missense_Mutation_p.V230I|CACNA1G_ENST00000510115.1_Missense_Mutation_p.V230I|CACNA1G_ENST00000507336.1_Missense_Mutation_p.V230I|CACNA1G_ENST00000360761.4_Missense_Mutation_p.V230I|CACNA1G_ENST00000507896.1_Missense_Mutation_p.V230I|CACNA1G_ENST00000515165.1_Missense_Mutation_p.V230I|CACNA1G_ENST00000416767.4_Missense_Mutation_p.V230I|CACNA1G_ENST00000352832.5_Missense_Mutation_p.V230I|CACNA1G_ENST00000358244.5_Missense_Mutation_p.V230I|CACNA1G_ENST00000515411.1_Missense_Mutation_p.V230I|CACNA1G_ENST00000354983.4_Missense_Mutation_p.V230I|CACNA1G_ENST00000429973.2_Missense_Mutation_p.V230I|CACNA1G_ENST00000514717.1_Missense_Mutation_p.V230I|CACNA1G_ENST00000514181.1_Missense_Mutation_p.V230I|CACNA1G_ENST00000513964.1_Missense_Mutation_p.V230I|CACNA1G_ENST00000515765.1_Missense_Mutation_p.V230I|CACNA1G_ENST00000503485.1_Missense_Mutation_p.V230I|CACNA1G_ENST00000505165.1_Missense_Mutation_p.V230I|CACNA1G_ENST00000512389.1_Missense_Mutation_p.V230I|CACNA1G_ENST00000442258.2_Missense_Mutation_p.V230I|CACNA1G_ENST00000507510.2_Missense_Mutation_p.V230I|CACNA1G_ENST00000510366.1_Missense_Mutation_p.V230I|CACNA1G_ENST00000502264.1_Missense_Mutation_p.V230I|CACNA1G_ENST00000514079.1_Missense_Mutation_p.V230I|CACNA1G_ENST00000507609.1_Missense_Mutation_p.V230I	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	230					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CATCGTCGGCGTCCAGCTGTG	0.587																																						uc002irk.1		NaN																	0				breast(1)	1						c.(688-690)GTC>ATC		voltage-dependent calcium channel alpha 1G	Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)						93.0	93.0	93.0					17																	48649340		2144	4254	6398	SO:0001583	missense	8913				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr17:48649340G>A	AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.688G>A	17.37:g.48649340G>A	ENSP00000352011:p.Val230Ile					CACNA1G_uc002iri.1_Missense_Mutation_p.V230I|CACNA1G_uc002irj.1_Missense_Mutation_p.V230I|CACNA1G_uc002irl.1_Missense_Mutation_p.V230I|CACNA1G_uc002irm.1_Missense_Mutation_p.V230I|CACNA1G_uc002irn.1_Missense_Mutation_p.V230I|CACNA1G_uc002iro.1_Missense_Mutation_p.V230I|CACNA1G_uc002irp.1_Missense_Mutation_p.V230I|CACNA1G_uc002irq.1_Missense_Mutation_p.V230I|CACNA1G_uc002irr.1_Missense_Mutation_p.V230I|CACNA1G_uc002irs.1_Missense_Mutation_p.V230I|CACNA1G_uc002irt.1_Missense_Mutation_p.V230I|CACNA1G_uc002irv.1_Missense_Mutation_p.V230I|CACNA1G_uc002irw.1_Missense_Mutation_p.V230I|CACNA1G_uc002iru.1_Missense_Mutation_p.V230I|CACNA1G_uc002irx.1_Missense_Mutation_p.V143I|CACNA1G_uc002iry.1_Missense_Mutation_p.V143I|CACNA1G_uc002irz.1_Missense_Mutation_p.V143I|CACNA1G_uc002isa.1_Missense_Mutation_p.V143I|CACNA1G_uc002isb.1_Missense_Mutation_p.V143I|CACNA1G_uc002isc.1_Missense_Mutation_p.V143I|CACNA1G_uc002isd.1_Missense_Mutation_p.V143I|CACNA1G_uc002ise.1_Missense_Mutation_p.V143I|CACNA1G_uc002isf.1_Missense_Mutation_p.V143I|CACNA1G_uc002isg.1_Missense_Mutation_p.V143I|CACNA1G_uc002ish.1_Missense_Mutation_p.V143I|CACNA1G_uc002isi.1_Missense_Mutation_p.V143I	p.V230I	NM_018896	NP_061496	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		5	1060	+	Breast(11;6.7e-17)		230			I.|Helical; Name=S5 of repeat I; (Potential).		D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Missense_Mutation	SNP	ENST00000359106.5	37	c.688G>A	CCDS45730.1	.	.	.	.	.	.	.	.	.	.	g	27.6	4.848223	0.91277	.	.	ENSG00000006283	ENST00000360761;ENST00000352832;ENST00000416767;ENST00000354983;ENST00000442258;ENST00000502264;ENST00000512389;ENST00000513964;ENST00000514717;ENST00000510366;ENST00000503485;ENST00000507510;ENST00000507336;ENST00000513689;ENST00000507609;ENST00000510115;ENST00000515165;ENST00000514181;ENST00000515765;ENST00000514079;ENST00000358244;ENST00000359106;ENST00000429973;ENST00000515411;ENST00000505165;ENST00000507896	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.98747	-5.11;-5.11;-5.11;-5.11;-5.11;-5.11;-5.11;-5.11;-5.11;-5.11;-5.11;-5.11;-5.11;-5.11;-5.11;-5.11;-5.11;-5.11;-5.11;-5.11;-5.11;-5.11;-5.11;-5.11;-5.11;-5.11	4.51	4.51	0.55191	Ion transport (1);	0.131490	0.50627	D	0.000106	D	0.99118	0.9696	M	0.83012	2.62	0.58432	D	0.999995	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.995;0.998;0.999;0.993;1.0;0.999;0.996;0.999;0.998;1.0;1.0;1.0;1.0;1.0;0.998;1.0;0.994;0.999;1.0;1.0;0.994;1.0;0.999;0.998;0.999;0.993	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;P;D;D;D;D;D;D;D;D;P	0.91635	0.979;0.965;0.982;0.99;0.973;0.965;0.987;0.973;0.941;0.982;0.965;0.999;0.999;0.993;0.987;0.995;0.879;0.993;0.982;0.999;0.972;0.999;0.965;0.961;0.992;0.808	D	0.99525	1.0959	10	0.72032	D	0.01	.	17.4063	0.87474	0.0:0.0:1.0:0.0	.	230;230;230;230;230;230;230;230;230;230;230;230;230;230;230;230;230;230;230;230;230;230;230;230;230;230	Q19QZ5;Q19QZ1;Q19QZ4;Q19R07;Q19QY8;Q19R10;Q19QZ6;Q19QZ3;Q19R06;Q19R00;Q19R04;O43497-10;Q19QZ9;Q19QZ7;Q19R08;Q19QZ8;Q19R03;O43497-4;Q19R02;Q19R12;Q19R17;Q19R11;Q2TAC4;O43497;Q19R13;O43497-11	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;CAC1G_HUMAN;.;.	I	230	ENSP00000353990:V230I;ENSP00000339302:V230I;ENSP00000392390:V230I;ENSP00000347078:V230I;ENSP00000409759:V230I;ENSP00000425522:V230I;ENSP00000426261:V230I;ENSP00000425451:V230I;ENSP00000422407:V230I;ENSP00000426814:V230I;ENSP00000427238:V230I;ENSP00000423112:V230I;ENSP00000420918:V230I;ENSP00000426172:V230I;ENSP00000423045:V230I;ENSP00000427173:V230I;ENSP00000426098:V230I;ENSP00000425698:V230I;ENSP00000426232:V230I;ENSP00000423317:V230I;ENSP00000350979:V230I;ENSP00000352011:V230I;ENSP00000414388:V230I;ENSP00000423155:V230I;ENSP00000422268:V230I;ENSP00000421518:V230I	ENSP00000339302:V230I	V	+	1	0	CACNA1G	46004339	1.000000	0.71417	0.978000	0.43139	0.881000	0.50899	9.208000	0.95075	2.348000	0.79779	0.505000	0.49811	GTC		0.587	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1		NM_018896		14	32	0	0	0	0.016723	0	14	32		
KCNJ2	3759	broad.mit.edu	37	17	68172154	68172154	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr17:68172154G>A	ENST00000243457.3	+	2	1357	c.974G>A	c.(973-975)cGc>cAc	p.R325H	KCNJ2_ENST00000535240.1_Missense_Mutation_p.R325H	NM_000891.2	NP_000882.1	P63252	KCNJ2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2	325					cardiac muscle cell action potential involved in contraction (GO:0086002)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|magnesium ion transport (GO:0015693)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion import (GO:0010107)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of membrane repolarization (GO:0060306)|regulation of resting membrane potential (GO:0060075)|regulation of skeletal muscle contraction via regulation of action potential (GO:0014861)|relaxation of cardiac muscle (GO:0055119)|relaxation of skeletal muscle (GO:0090076)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of membrane (GO:0031224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization (GO:0086008)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					TGGGGCCACCGCTATGAGCCT	0.493																																						uc010dfg.2		NaN																	0					0						c.(973-975)CGC>CAC		potassium inwardly-rectifying channel J2							59.0	62.0	61.0					17																	68172154		2203	4300	6503	SO:0001583	missense	3759				synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding	g.chr17:68172154G>A	AF011904	CCDS11688.1	17q24.3	2014-09-17				ENSG00000123700		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6263	protein-coding gene	gene with protein product		600681				7696590, 11240146, 16382105	Standard	NM_000891		Approved	Kir2.1, IRK1, LQT7	uc002jir.3	P63252		ENST00000243457.3:c.974G>A	17.37:g.68172154G>A	ENSP00000243457:p.Arg325His					KCNJ2_uc002jir.2_Missense_Mutation_p.R325H	p.R325H	NM_000891	NP_000882	P63252	IRK2_HUMAN			2	1375	+	Breast(10;1.64e-08)		325			Cytoplasmic (By similarity).		O15110|P48049	Missense_Mutation	SNP	ENST00000243457.3	37	c.974G>A	CCDS11688.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.267977	0.80469	.	.	ENSG00000123700	ENST00000535240;ENST00000243457	D;D	0.95447	-3.71;-3.71	5.65	5.65	0.86999	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.98298	0.9436	M	0.91354	3.2	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.98574	1.0647	9	.	.	.	.	20.0781	0.97751	0.0:0.0:1.0:0.0	.	325	P63252	IRK2_HUMAN	H	325	ENSP00000441848:R325H;ENSP00000243457:R325H	.	R	+	2	0	KCNJ2	65683749	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.817000	0.96982	0.563000	0.77884	CGC		0.493	KCNJ2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450889.1		NM_000891		12	57	0	0	0	0.013537	0	12	57		
ESCO1	114799	broad.mit.edu	37	18	19112474	19112474	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr18:19112474G>A	ENST00000269214.5	-	11	3272	c.2335C>T	c.(2335-2337)Cgt>Tgt	p.R779C		NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 1	779					mitotic cell cycle (GO:0000278)|post-translational protein acetylation (GO:0034421)|regulation of DNA replication (GO:0006275)|sister chromatid cohesion (GO:0007062)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|transferase activity, transferring acyl groups (GO:0016746)			breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						TTCTTCCGACGCATCATGCTG	0.408																																						uc002kth.1		NaN																	0					0						c.(2335-2337)CGT>TGT		establishment of cohesion 1 homolog 1							147.0	137.0	141.0					18																	19112474		2203	4300	6503	SO:0001583	missense	114799				cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding	g.chr18:19112474G>A	AL832041	CCDS32800.1	18q11.2	2013-05-02	2013-05-02		ENSG00000141446	ENSG00000141446			24645	protein-coding gene	gene with protein product		609674	"""establishment of cohesion 1 homolog 1 (S. cerevisiae)"""			11572484, 14576321, 15958495	Standard	NM_052911		Approved	ESO1, EFO1, KIAA1911	uc002kth.1	Q5FWF5		ENST00000269214.5:c.2335C>T	18.37:g.19112474G>A	ENSP00000269214:p.Arg779Cys					ESCO1_uc002kti.1_RNA	p.R779C	NM_052911	NP_443143	Q5FWF5	ESCO1_HUMAN			11	3269	-			779					B0YJ11|B0YJ12|Q69YG4|Q69YS3|Q6IMD7|Q8N3Z5|Q8NBG2|Q96PX7	Missense_Mutation	SNP	ENST00000269214.5	37	c.2335C>T	CCDS32800.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.723101	0.89298	.	.	ENSG00000141446	ENST00000269214	D	0.91577	-2.87	5.57	5.57	0.84162	.	0.128100	0.51477	D	0.000094	D	0.97161	0.9072	H	0.95884	3.735	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98063	1.0394	10	0.87932	D	0	-13.6518	19.5519	0.95324	0.0:0.0:1.0:0.0	.	779	Q5FWF5	ESCO1_HUMAN	C	779	ENSP00000269214:R779C	ENSP00000269214:R779C	R	-	1	0	ESCO1	17366472	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.840000	0.69402	2.623000	0.88846	0.467000	0.42956	CGT		0.408	ESCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443942.1		NM_052911		9	103	0	0	0	0.008291	0	9	103		
ESCO1	114799	broad.mit.edu	37	18	19154691	19154691	+	Silent	SNP	T	T	C	rs201017538		TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr18:19154691T>C	ENST00000269214.5	-	4	1051	c.114A>G	c.(112-114)aaA>aaG	p.K38K		NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 1	38					mitotic cell cycle (GO:0000278)|post-translational protein acetylation (GO:0034421)|regulation of DNA replication (GO:0006275)|sister chromatid cohesion (GO:0007062)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|transferase activity, transferring acyl groups (GO:0016746)			breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						TTGGACCTGATTTTTTTGCTA	0.338													T|||	1	0.000199681	0.0	0.0	5008	,	,		18834	0.001		0.0	False		,,,				2504	0.0					uc002kth.1		NaN																	0					0						c.(112-114)AAA>AAG		establishment of cohesion 1 homolog 1							148.0	148.0	148.0					18																	19154691		2203	4299	6502	SO:0001819	synonymous_variant	114799				cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding	g.chr18:19154691T>C	AL832041	CCDS32800.1	18q11.2	2013-05-02	2013-05-02		ENSG00000141446	ENSG00000141446			24645	protein-coding gene	gene with protein product		609674	"""establishment of cohesion 1 homolog 1 (S. cerevisiae)"""			11572484, 14576321, 15958495	Standard	NM_052911		Approved	ESO1, EFO1, KIAA1911	uc002kth.1	Q5FWF5		ENST00000269214.5:c.114A>G	18.37:g.19154691T>C						ESCO1_uc002kti.1_RNA	p.K38K	NM_052911	NP_443143	Q5FWF5	ESCO1_HUMAN			4	1048	-			38					B0YJ11|B0YJ12|Q69YG4|Q69YS3|Q6IMD7|Q8N3Z5|Q8NBG2|Q96PX7	Silent	SNP	ENST00000269214.5	37	c.114A>G	CCDS32800.1																																																																																				0.338	ESCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443942.1		NM_052911		36	29	0	0	0	0.019004	0	36	29		
DCC	1630	broad.mit.edu	37	18	50731606	50731606	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr18:50731606G>A	ENST00000442544.2	+	10	2210	c.1594G>A	c.(1594-1596)Gaa>Aaa	p.E532K	DCC_ENST00000581580.1_Missense_Mutation_p.E187K|DCC_ENST00000412726.1_Missense_Mutation_p.E380K	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	532	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		AGGGCCAGTAGAAAACCTGCA	0.388																																						uc002lfe.1		NaN																	0				skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17						c.(1594-1596)GAA>AAA		netrin receptor DCC precursor							167.0	173.0	171.0					18																	50731606		2203	4300	6503	SO:0001583	missense	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:50731606G>A	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.1594G>A	18.37:g.50731606G>A	ENSP00000389140:p.Glu532Lys					DCC_uc010xdr.1_Missense_Mutation_p.E380K|DCC_uc010dpf.1_Missense_Mutation_p.E187K	p.E532K	NM_005215	NP_005206	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	10	2181	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	532			Extracellular (Potential).|Fibronectin type-III 2.			Missense_Mutation	SNP	ENST00000442544.2	37	c.1594G>A	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	G	15.18	2.756130	0.49362	.	.	ENSG00000187323	ENST00000442544;ENST00000304775;ENST00000412726	T;T	0.57907	0.37;0.37	5.78	5.78	0.91487	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.56411	0.1983	L	0.52364	1.645	0.38503	D	0.948285	B;B;P	0.41947	0.072;0.072;0.766	B;B;P	0.50270	0.065;0.065;0.636	T	0.51148	-0.8742	10	0.02654	T	1	.	18.7793	0.91925	0.0:0.0:1.0:0.0	.	380;380;532	E7EQM8;B4DYX2;P43146	.;.;DCC_HUMAN	K	532;465;380	ENSP00000389140:E532K;ENSP00000397322:E380K	ENSP00000304146:E465K	E	+	1	0	DCC	48985604	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.957000	0.56730	2.722000	0.93159	0.655000	0.94253	GAA		0.388	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3		NM_005215		47	163	0	0	0	0.01441	0	47	163		
FSTL3	10272	broad.mit.edu	37	19	681360	681360	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr19:681360G>A	ENST00000166139.4	+	4	565	c.533G>A	c.(532-534)cGg>cAg	p.R178Q	FSTL3_ENST00000592947.1_3'UTR	NM_005860.2	NP_005851.1	O95633	FSTL3_HUMAN	follistatin-like 3 (secreted glycoprotein)	178	Follistatin-like 2.				adrenal gland development (GO:0030325)|cellular response to metal ion (GO:0071248)|hematopoietic progenitor cell differentiation (GO:0002244)|kidney development (GO:0001822)|lung development (GO:0030324)|male gonad development (GO:0008584)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0090101)|ossification (GO:0001503)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|secretory granule (GO:0030141)	activin binding (GO:0048185)|fibronectin binding (GO:0001968)						all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGTGCCCGCGGCCACAGTCG	0.701			T	CCND1	B-CLL																																	uc002lpk.1		NaN		Dom	yes		19	19p13	10272	T	follistatin-like 3 (secreted glycoprotein)			L	CCND1		B-CLL		0					0						c.(532-534)CGG>CAG		follistatin-like 3 glycoprotein precursor							18.0	16.0	17.0					19																	681360		2196	4285	6481	SO:0001583	missense	10272				hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of osteoclast differentiation|ossification|positive regulation of cell-cell adhesion|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	extracellular space|nucleus	activin binding|fibronectin binding	g.chr19:681360G>A	U76702	CCDS12040.1	19p13	2008-07-16				ENSG00000070404			3973	protein-coding gene	gene with protein product	"""follistatin-related protein"""	605343				9671416, 15527507	Standard	NM_005860		Approved	FLRG, FSRP	uc002lpk.1	O95633		ENST00000166139.4:c.533G>A	19.37:g.681360G>A	ENSP00000166139:p.Arg178Gln					FSTL3_uc010drt.1_RNA	p.R178Q	NM_005860	NP_005851	O95633	FSTL3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	4	568	+		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	178			Follistatin-like 2.		A8K7E3	Missense_Mutation	SNP	ENST00000166139.4	37	c.533G>A	CCDS12040.1	.	.	.	.	.	.	.	.	.	.	G	14.55	2.567701	0.45798	.	.	ENSG00000070404	ENST00000166139	T	0.18338	2.22	4.0	0.456	0.16655	Follistatin-like, N-terminal (1);	0.185425	0.46442	N	0.000294	T	0.09949	0.0244	L	0.33485	1.01	0.32137	N	0.586015	B	0.27166	0.17	B	0.12156	0.007	T	0.18871	-1.0323	10	0.27785	T	0.31	-26.5534	7.6191	0.28175	0.0916:0.3157:0.5927:0.0	.	178	O95633	FSTL3_HUMAN	Q	178	ENSP00000166139:R178Q	ENSP00000166139:R178Q	R	+	2	0	FSTL3	632360	1.000000	0.71417	0.293000	0.24932	0.551000	0.35334	4.236000	0.58675	0.006000	0.14734	0.462000	0.41574	CGG		0.701	FSTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452479.1		NM_005860		6	11	0	0	0	0.006214	0	6	11		
ZNF414	84330	broad.mit.edu	37	19	8576365	8576365	+	Silent	SNP	C	C	T			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr19:8576365C>T	ENST00000255616.8	-	6	1031	c.930G>A	c.(928-930)gcG>gcA	p.A310A	ZNF414_ENST00000393927.4_Intron	NM_032370.2	NP_115746.2	Q96IQ9	ZN414_HUMAN	zinc finger protein 414	310					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			lung(2)	2						GTCACCTGCACGCACCTGAGG	0.687																																						uc002mkf.2		NaN																	0					0						c.(928-930)GCG>GCA		zinc finger protein 414 isoform 2							27.0	33.0	31.0					19																	8576365		2200	4296	6496	SO:0001819	synonymous_variant	84330				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:8576365C>T	AK074191	CCDS12205.1, CCDS54211.1	19p13.2	2008-02-05				ENSG00000133250		"""Zinc fingers, C2H2-type"""	20630	protein-coding gene	gene with protein product							Standard	NM_032370		Approved	MGC15716, Zfp414	uc002mke.4	Q96IQ9		ENST00000255616.8:c.930G>A	19.37:g.8576365C>T						ZNF414_uc002mke.3_Intron|ZNF414_uc010dwf.2_Silent_p.A299A	p.A310A	NM_032370	NP_115746	Q96IQ9	ZN414_HUMAN			6	1048	-			310					A8MY94	Silent	SNP	ENST00000255616.8	37	c.930G>A	CCDS12205.1																																																																																				0.687	ZNF414-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000460199.2		NM_032370		10	21	0	0	0	0.013537	0	10	21		
ADAMTS10	81794	broad.mit.edu	37	19	8665902	8665902	+	Silent	SNP	G	G	A			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr19:8665902G>A	ENST00000597188.1	-	6	990	c.720C>T	c.(718-720)taC>taT	p.Y240Y	ADAMTS10_ENST00000270328.4_Silent_p.Y240Y|ADAMTS10_ENST00000596709.1_5'UTR	NM_030957.2	NP_112219.3	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	240	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					extracellular matrix (GO:0031012)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						GGGTCTCCACGTAGCGCTCTC	0.622																																						uc002mkj.1		NaN																	0				pancreas(2)|skin(2)	4						c.(718-720)TAC>TAT		ADAM metallopeptidase with thrombospondin type 1							92.0	80.0	84.0					19																	8665902		2203	4300	6503	SO:0001819	synonymous_variant	81794				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr19:8665902G>A	AF163762	CCDS12206.1, CCDS62529.1	19p13.2	2014-08-12	2005-08-19		ENSG00000142303	ENSG00000142303		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13201	protein-coding gene	gene with protein product		608990	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 10"""				Standard	XM_005272499		Approved	ADAM-TS10	uc002mkj.1	Q9H324	OTTHUMG00000182216	ENST00000597188.1:c.720C>T	19.37:g.8665902G>A						ADAMTS10_uc002mkk.1_Translation_Start_Site	p.Y240Y	NM_030957	NP_112219	Q9H324	ATS10_HUMAN			6	994	-			240			Peptidase M12B.		M0QZE4	Silent	SNP	ENST00000597188.1	37	c.720C>T	CCDS12206.1																																																																																				0.622	ADAMTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460085.3		NM_030957		35	104	0	0	0	0.021022	0	35	104		
MUC16	94025	broad.mit.edu	37	19	8996396	8996396	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr19:8996396C>G	ENST00000397910.4	-	61	41379	c.41176G>C	c.(41176-41178)Gag>Cag	p.E13726Q	MUC16_ENST00000380951.5_Missense_Mutation_p.E367Q	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13728	SEA 11. {ECO:0000255|PROSITE- ProRule:PRU00188}.			Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGCTCAGCTCCCAATACAGC	0.567																																						uc002mkp.2		NaN																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(41176-41178)GAG>CAG		mucin 16							136.0	126.0	129.0					19																	8996396		1991	4165	6156	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:8996396C>G	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.41176G>C	19.37:g.8996396C>G	ENSP00000381008:p.Glu13726Gln					MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Missense_Mutation_p.E543Q|MUC16_uc010xki.1_RNA	p.E13726Q	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			61	41380	-			13728	Missing (in Ref. 3; AAK74120).		Extracellular (Potential).|SEA 11.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.41176G>C	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	16.29	3.081813	0.55861	.	.	ENSG00000181143	ENST00000397910;ENST00000380951	T;T	0.41758	0.99;0.99	3.4	3.4	0.38934	SEA (1);	0.000000	0.34652	U	0.003791	T	0.63177	0.2489	M	0.84082	2.675	.	.	.	D;D	0.89917	1.0;0.962	D;D	0.87578	0.998;0.946	T	0.73307	-0.4024	9	0.45353	T	0.12	-20.2964	10.5199	0.44912	0.0:1.0:0.0:0.0	.	21371;13726	Q8WXI7;B5ME49	MUC16_HUMAN;.	Q	13726;367	ENSP00000381008:E13726Q;ENSP00000370338:E367Q	ENSP00000370338:E367Q	E	-	1	0	MUC16	8857396	0.982000	0.34865	0.842000	0.33263	0.034000	0.12701	2.682000	0.46934	1.920000	0.55613	0.455000	0.32223	GAG		0.567	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1		NM_024690		54	108	0	0	0	0.01441	0	54	108		
ZNF844	284391	broad.mit.edu	37	19	12187307	12187307	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr19:12187307G>C	ENST00000439326.3	+	4	1547	c.1372G>C	c.(1372-1374)Gat>Cat	p.D458H	ZNF844_ENST00000441304.2_3'UTR	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN	zinc finger protein 844	458					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						AAAGCCTTCAGATCTGCCTCA	0.423																																						uc002mtb.2		NaN																	0					0						c.(1372-1374)GAT>CAT		zinc finger protein 844							68.0	60.0	63.0					19																	12187307		692	1591	2283	SO:0001583	missense	284391				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12187307G>C	AL832297	CCDS45985.1	19p13.2	2013-01-08			ENSG00000223547	ENSG00000223547		"""Zinc fingers, C2H2-type"", ""-"""	25932	protein-coding gene	gene with protein product							Standard	NM_001136501		Approved	FLJ14959	uc002mtb.2	Q08AG5	OTTHUMG00000156405	ENST00000439326.3:c.1372G>C	19.37:g.12187307G>C	ENSP00000392024:p.Asp458His					ZNF844_uc010dym.1_Missense_Mutation_p.D301H	p.D458H	NM_001136501	NP_001129973	Q08AG5	ZN844_HUMAN			4	1515	+			458					Q5JPI8	Missense_Mutation	SNP	ENST00000439326.3	37	c.1372G>C	CCDS45985.1	.	.	.	.	.	.	.	.	.	.	A	10.70	1.423302	0.25639	.	.	ENSG00000223547	ENST00000439326;ENST00000541708	T	0.05199	3.48	2.88	-5.76	0.02376	.	.	.	.	.	T	0.02649	0.0080	N	0.05554	-0.025	0.09310	N	0.999999	P	0.48911	0.917	B	0.43754	0.43	T	0.23976	-1.0173	9	0.25106	T	0.35	.	3.0567	0.06187	0.0982:0.4015:0.1573:0.343	.	458	Q08AG5	ZN844_HUMAN	H	458	ENSP00000392024:D458H	ENSP00000392024:D458H	D	+	1	0	ZNF844	12048307	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-2.973000	0.00666	-1.567000	0.01671	-0.346000	0.07831	GAT		0.423	ZNF844-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344086.2				4	105	0	0	0	0.009096	0	4	105		
CD97	976	broad.mit.edu	37	19	14512345	14512345	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr19:14512345C>T	ENST00000242786.5	+	10	1125	c.1045C>T	c.(1045-1047)Ccc>Tcc	p.P349S	CTC-548K16.5_ENST00000590626.1_RNA|CD97_ENST00000358600.3_Missense_Mutation_p.P256S|CD97_ENST00000357355.3_Missense_Mutation_p.P300S	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	349					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GCCTAAAGGCCCCTTCACCTA	0.612																																						uc002myl.2		NaN																	0				ovary(3)|breast(1)	4						c.(1045-1047)CCC>TCC		CD97 antigen isoform 1 precursor							71.0	71.0	71.0					19																	14512345		2203	4300	6503	SO:0001583	missense	976				cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr19:14512345C>T		CCDS32929.1, CCDS32930.1, CCDS32931.1	19p13	2014-08-08	2006-03-28			ENSG00000123146		"""CD molecules"", ""-"", ""GPCR / Class B : Orphans"""	1711	protein-coding gene	gene with protein product	"""leukocyte antigen CD97"", ""seven-span transmembrane protein"", ""seven-transmembrane, heterodimeric receptor associated with inflammation"", ""seven transmembrane helix receptor"""	601211	"""CD97 antigen"""			7636245, 8786105	Standard	NM_078481		Approved	TM7LN1	uc002myl.3	P48960		ENST00000242786.5:c.1045C>T	19.37:g.14512345C>T	ENSP00000242786:p.Pro349Ser					CD97_uc002mym.2_Missense_Mutation_p.P300S|CD97_uc002myn.2_Missense_Mutation_p.P256S	p.P349S	NM_078481	NP_510966	P48960	CD97_HUMAN			10	1168	+			349			Extracellular (Potential).		A8K7Z4|B2RBJ9|O00718|O76101|Q8NG72|Q8TBQ7	Missense_Mutation	SNP	ENST00000242786.5	37	c.1045C>T	CCDS32929.1	.	.	.	.	.	.	.	.	.	.	C	2.933	-0.220506	0.06061	.	.	ENSG00000123146	ENST00000242786;ENST00000357355;ENST00000358600;ENST00000393059	T;T;T	0.70045	-0.45;-0.36;0.02	5.52	-7.13	0.01532	.	0.521020	0.14496	N	0.316033	T	0.24547	0.0595	N	0.01729	-0.75	0.09310	N	1	B;B;B	0.18461	0.028;0.028;0.001	B;B;B	0.20184	0.028;0.019;0.002	T	0.42327	-0.9458	10	0.05351	T	0.99	.	5.1175	0.14843	0.1088:0.5734:0.1089:0.2089	.	256;300;349	P48960-2;P48960-3;P48960	.;.;CD97_HUMAN	S	349;300;256;299	ENSP00000242786:P349S;ENSP00000349918:P300S;ENSP00000351413:P256S	ENSP00000242786:P349S	P	+	1	0	CD97	14373345	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-1.116000	0.03286	-1.273000	0.02424	0.561000	0.74099	CCC		0.612	CD97-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459821.2		NM_078481		11	71	0	0	0	0.013537	0	11	71		
ZNF529	57711	broad.mit.edu	37	19	37038913	37038913	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr19:37038913C>T	ENST00000591340.1	-	5	705	c.547G>A	c.(547-549)Gac>Aac	p.D183N	ZNF529_ENST00000334116.7_Missense_Mutation_p.D78N	NM_020951.4	NP_066002.3	Q6P280	ZN529_HUMAN	zinc finger protein 529	183					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)	1	Esophageal squamous(110;0.198)					AACTCTAAGTCACAACTGAAG	0.363																																						uc002oeh.3		NaN																	0				breast(1)	1						c.(547-549)GAC>AAC		zinc finger protein 529 isoform a							97.0	88.0	91.0					19																	37038913		1856	4095	5951	SO:0001583	missense	57711				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37038913C>T	AK025110	CCDS54256.1	19q13.13	2014-08-22			ENSG00000186020	ENSG00000186020		"""Zinc fingers, C2H2-type"", ""-"""	29328	protein-coding gene	gene with protein product						10997877	Standard	NM_020951		Approved	KIAA1615	uc002oeh.4	Q6P280	OTTHUMG00000180714	ENST00000591340.1:c.547G>A	19.37:g.37038913C>T	ENSP00000465578:p.Asp183Asn					ZNF529_uc010xth.1_Missense_Mutation_p.D183N|ZNF529_uc010xti.1_Missense_Mutation_p.D165N|ZNF529_uc002oeg.3_Missense_Mutation_p.D78N	p.D183N	NM_020951	NP_066002	Q6P280	ZN529_HUMAN			5	749	-	Esophageal squamous(110;0.198)		150					K7EKE1|Q9H731|Q9HCF7	Missense_Mutation	SNP	ENST00000591340.1	37	c.547G>A	CCDS54256.1	.	.	.	.	.	.	.	.	.	.	C	9.159	1.018308	0.19355	.	.	ENSG00000186020	ENST00000334116	.	.	.	3.61	2.49	0.30216	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07954	0.0199	N	0.00563	-1.375	0.09310	N	1	B;B	0.13145	0.007;0.004	B;B	0.11329	0.006;0.004	T	0.33111	-0.9881	8	0.14252	T	0.57	.	6.6105	0.22749	0.0:0.78:0.0:0.22	.	78;150	Q6P280-2;Q6P280	.;ZN529_HUMAN	N	183	.	ENSP00000334695:D183N	D	-	1	0	ZNF529	41730753	.	.	0.469000	0.27204	0.499000	0.33736	.	.	1.851000	0.53745	0.591000	0.81541	GAC		0.363	ZNF529-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452730.1		NM_020951		23	24	0	0	0	0.014323	0	23	24		
CYP2A6	1548	broad.mit.edu	37	19	41354273	41354273	+	Missense_Mutation	SNP	C	C	T	rs376550663		TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr19:41354273C>T	ENST00000301141.5	-	4	525	c.505G>A	c.(505-507)Gat>Aat	p.D169N	CTC-490E21.12_ENST00000601627.1_Intron	NM_000762.5	NP_000753	P11509	CP2A6_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 6	169					coumarin catabolic process (GO:0046226)|coumarin metabolic process (GO:0009804)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum membrane (GO:0005789)	coumarin 7-hydroxylase activity (GO:0008389)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)	37			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Acetaminophen(DB00316)|Amiodarone(DB01118)|Amlodipine(DB00381)|Amobarbital(DB01351)|Amphetamine(DB00182)|Antipyrine(DB01435)|Arformoterol(DB01274)|Azelastine(DB00972)|Azithromycin(DB00207)|Buprenorphine(DB00921)|Bupropion(DB01156)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Cisapride(DB00604)|Clofibrate(DB00636)|Clomifene(DB00882)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cyclophosphamide(DB00531)|Dapagliflozin(DB06292)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Diethylstilbestrol(DB00255)|Dronabinol(DB00470)|Eletriptan(DB00216)|Ezogabine(DB04953)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Flurazepam(DB00690)|Fomepizole(DB01213)|Formoterol(DB00983)|Halothane(DB01159)|Ifosfamide(DB01181)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Letrozole(DB01006)|Lidocaine(DB00281)|Lorcaserin(DB04871)|Memantine(DB01043)|Menadione(DB00170)|Methimazole(DB00763)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Metyrapone(DB01011)|Miconazole(DB01110)|Montelukast(DB00471)|Nevirapine(DB00238)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Norfloxacin(DB01059)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Pilocarpine(DB01085)|Prednisolone(DB00860)|Progesterone(DB00396)|Propofol(DB00818)|Rifampicin(DB01045)|Rosiglitazone(DB00412)|Selegiline(DB01037)|Sevoflurane(DB01236)|Sulfaphenazole(DB06729)|Tamoxifen(DB00675)|Tranylcypromine(DB00752)|Tretinoin(DB00755)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Zidovudine(DB00495)	AAGGTGGGATCGATATTGGCG	0.542																																						uc002opl.3		NaN																	0				ovary(2)	2						c.(505-507)GAT>AAT		cytochrome P450, family 2, subfamily A,	Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752)						112.0	107.0	109.0					19																	41354273		2203	4300	6503	SO:0001583	missense	1548				coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding	g.chr19:41354273C>T	AF182275	CCDS12568.1	19q13.2	2013-11-11	2003-01-14		ENSG00000255974	ENSG00000255974		"""Cytochrome P450s"""	2610	protein-coding gene	gene with protein product		122720	"""cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 6"""	CYP2A3		7668294, 2748347	Standard	NM_000762		Approved	CPA6, CYP2A	uc002opl.4	P11509	OTTHUMG00000182713	ENST00000301141.5:c.505G>A	19.37:g.41354273C>T	ENSP00000301141:p.Asp169Asn					CYP2A6_uc010ehe.1_5'UTR|CYP2A6_uc010ehf.1_RNA	p.D169N	NM_000762	NP_000753	P11509	CP2A6_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		4	526	-			169					A7YAE5|B2R7F6|P00190|P10890|Q16803|Q4VAT9|Q4VAU0|Q4VAU1|Q9H1Z7|Q9UCU0|Q9UK48	Missense_Mutation	SNP	ENST00000301141.5	37	c.505G>A	CCDS12568.1	.	.	.	.	.	.	.	.	.	.	-	11.30	1.599480	0.28534	.	.	ENSG00000255974	ENST00000301141	T	0.73575	-0.76	2.69	2.69	0.31865	.	0.176525	0.46758	U	0.000274	T	0.58495	0.2126	N	0.16656	0.425	0.32115	N	0.588742	B	0.22211	0.066	B	0.22880	0.042	T	0.66221	-0.5978	10	0.56958	D	0.05	.	12.5876	0.56426	0.0:1.0:0.0:0.0	.	169	P11509	CP2A6_HUMAN	N	169	ENSP00000301141:D169N	ENSP00000301141:D169N	D	-	1	0	CYP2A6	46046113	0.835000	0.29415	0.796000	0.32109	0.119000	0.20118	1.724000	0.38064	1.523000	0.49018	0.380000	0.24917	GAT		0.542	CYP2A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463259.1		NM_000762		17	95	0	0	0	0.00632	0	17	95		
CEACAM4	1089	broad.mit.edu	37	19	42131981	42131981	+	Missense_Mutation	SNP	C	C	T	rs118076769	byFrequency	TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr19:42131981C>T	ENST00000221954.2	-	2	528	c.418G>A	c.(418-420)Gta>Ata	p.V140I	CEACAM4_ENST00000600925.1_Missense_Mutation_p.V140I	NM_001817.2	NP_001808.2	O75871	CEAM4_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 4	140						integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1)	16						TCACGGTGTACGTGGAGCTGG	0.562													C|||	4	0.000798722	0.0008	0.0	5008	,	,		16985	0.0		0.003	False		,,,				2504	0.0					uc002orh.1		NaN																	0					0						c.(418-420)GTA>ATA		carcinoembryonic antigen-related cell adhesion		C	ILE/VAL	0,4406		0,0,2203	179.0	153.0	162.0		418	1.8	0.0	19	dbSNP_132	162	19,8581	14.0+/-48.4	0,19,4281	yes	missense	CEACAM4	NM_001817.2	29	0,19,6484	TT,TC,CC		0.2209,0.0,0.1461	possibly-damaging	140/245	42131981	19,12987	2203	4300	6503	SO:0001583	missense	1089					integral to plasma membrane|membrane fraction		g.chr19:42131981C>T	D90276	CCDS33033.1	19q13.2	2013-01-11			ENSG00000105352	ENSG00000105352		"""Immunoglobulin superfamily / V-set domain containing"""	1816	protein-coding gene	gene with protein product				CGM7		2050678	Standard	XM_005258434		Approved		uc002orh.1	O75871	OTTHUMG00000151065	ENST00000221954.2:c.418G>A	19.37:g.42131981C>T	ENSP00000221954:p.Val140Ile					CEACAM4_uc010xwd.1_Missense_Mutation_p.V140I	p.V140I	NM_001817	NP_001808	O75871	CEAM4_HUMAN			2	529	-			140			Extracellular (Potential).		Q03715|Q7LDZ7	Missense_Mutation	SNP	ENST00000221954.2	37	c.418G>A	CCDS33033.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	C	12.57	1.977247	0.34848	0.0	0.002209	ENSG00000105352	ENST00000221954	T	0.05081	3.5	1.82	1.82	0.25136	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.10465	0.0256	L	0.39020	1.185	0.09310	N	1	D;D	0.61080	0.978;0.989	P;P	0.56278	0.667;0.795	T	0.20672	-1.0268	9	0.54805	T	0.06	.	7.103	0.25348	0.0:1.0:0.0:0.0	.	140;140	E7EMX3;O75871	.;CEAM4_HUMAN	I	140	ENSP00000221954:V140I	ENSP00000221954:V140I	V	-	1	0	CEACAM4	46823821	0.001000	0.12720	0.002000	0.10522	0.011000	0.07611	0.542000	0.23222	1.319000	0.45190	0.313000	0.20887	GTA		0.562	CEACAM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321148.1		NM_001817		39	199	0	0	0	0.01441	0	39	199		
ZNF578	147660	broad.mit.edu	37	19	52954586	52954586	+	5'Flank	SNP	G	G	A			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr19:52954586G>A	ENST00000421239.2	+	0	0				ZNF534_ENST00000432303.2_Missense_Mutation_p.V97I|ZNF534_ENST00000301085.4_Missense_Mutation_p.V140I	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		ATTTCCTTCCGTTTCTGCTTC	0.682																																						uc002pzj.1		NaN																	0					0						c.(418-420)GTT>ATT		SubName: Full=Putative uncharacterized protein;							5.0	4.0	4.0					19																	52954586		856	1944	2800	SO:0001631	upstream_gene_variant	147658				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52954586G>A	AK095562	CCDS54310.1	19q13.41	2013-09-20			ENSG00000258405	ENSG00000258405		"""Zinc fingers, C2H2-type"", ""-"""	26449	protein-coding gene	gene with protein product							Standard	NM_001099694		Approved	FLJ31384	uc002pzp.4	Q96N58	OTTHUMG00000156468		19.37:g.52954586G>A	Exception_encountered					ZNF534_uc010epo.1_Missense_Mutation_p.V97I|ZNF578_uc002pzm.2_5'Flank|ZNF578_uc002pzn.2_5'Flank|ZNF578_uc002pzp.3_5'Flank|ZNF578_uc002pzo.1_5'Flank|ZNF578_uc010epp.1_5'Flank	p.V140I			Q76KX8	ZN534_HUMAN			5	543	+			Error:Variant_position_missing_in_Q76KX8_after_alignment					B4DR51|I3L1Y6	Missense_Mutation	SNP	ENST00000421239.2	37	c.418G>A	CCDS54310.1	.	.	.	.	.	.	.	.	.	.	G	5.411	0.261057	0.10239	.	.	ENSG00000198633	ENST00000301085;ENST00000432303	T;T	0.01422	5.41;4.91	1.03	-2.07	0.07276	.	.	.	.	.	T	0.01387	0.0045	.	.	.	0.09310	N	1	B;B	0.21225	0.053;0.053	B;B	0.08055	0.003;0.003	T	0.39961	-0.9588	8	0.72032	D	0.01	.	8.1649	0.31220	0.0:0.3365:0.6635:0.0	.	97;140	Q1T7F6;Q1T7F5	.;.	I	140;97	ENSP00000301085:V140I;ENSP00000409421:V97I	ENSP00000301085:V140I	V	+	1	0	ZNF534	57646398	0.007000	0.16637	0.000000	0.03702	0.006000	0.05464	-0.891000	0.04135	-2.023000	0.00937	-1.087000	0.02190	GTT		0.682	ZNF578-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344298.3		NM_152472		4	8	0	0	0	0.014758	0	4	8		
TPO	7173	broad.mit.edu	37	2	1497623	1497623	+	Silent	SNP	C	C	T	rs148782927		TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr2:1497623C>T	ENST00000345913.4	+	11	1909	c.1818C>T	c.(1816-1818)ccC>ccT	p.P606P	TPO_ENST00000382198.1_Silent_p.P433P|TPO_ENST00000349624.3_Silent_p.P433P|TPO_ENST00000329066.4_Silent_p.P606P|TPO_ENST00000382201.3_Silent_p.P549P|TPO_ENST00000497517.2_3'UTR|TPO_ENST00000346956.3_Silent_p.P606P|TPO_ENST00000337415.3_Silent_p.P606P	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	606					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	TGGAGACCCCCGCTGACCTGA	0.577													C|||	1	0.000199681	0.0	0.0	5008	,	,		17945	0.0		0.001	False		,,,				2504	0.0					uc002qww.2		NaN																	0				ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1)	20						c.(1816-1818)CCC>CCT		thyroid peroxidase isoform a	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)						55.0	51.0	52.0					2																	1497623		2203	4300	6503	SO:0001819	synonymous_variant	7173				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	g.chr2:1497623C>T		CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.1818C>T	2.37:g.1497623C>T						TPO_uc010ewj.2_RNA|TPO_uc002qwu.2_Silent_p.P549P|TPO_uc002qwr.2_Silent_p.P606P|TPO_uc002qwx.2_Silent_p.P549P|TPO_uc010yio.1_Silent_p.P433P|TPO_uc010yip.1_Silent_p.P606P|TPO_uc002qwy.1_5'UTR|TPO_uc002qwz.2_RNA	p.P606P	NM_000547	NP_000538	P07202	PERT_HUMAN		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	11	1909	+	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)	606			Extracellular (Potential).		P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Silent	SNP	ENST00000345913.4	37	c.1818C>T	CCDS1643.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	0.112	-1.137606	0.01742	.	.	ENSG00000115705	ENST00000446278	T	0.66099	-0.19	4.84	-9.69	0.00524	.	0.687859	0.15599	N	0.254021	T	0.27663	0.0680	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.28902	-1.0029	7	0.11485	T	0.65	-4.6304	3.7069	0.08404	0.3198:0.4284:0.1003:0.1515	.	.	.	.	L	81	ENSP00000400033:P81L	ENSP00000400033:P81L	P	+	2	0	TPO	1476630	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.016000	0.12613	-2.265000	0.00688	-1.010000	0.02471	CCG		0.577	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2		NM_000547		11	17	0	0	0	0.010729	0	11	17		
DEFB126	81623	broad.mit.edu	37	20	126332	126332	+	Silent	SNP	G	G	A			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr20:126332G>A	ENST00000382398.3	+	2	595	c.335G>A	c.(334-336)tGa>tAa	p.*112*	DEFB126_ENST00000542572.1_3'UTR	NM_030931.3	NP_112193.1	Q9BYW3	DB126_HUMAN	defensin, beta 126	0					defense response to bacterium (GO:0042742)	cell surface (GO:0009986)|extracellular region (GO:0005576)|glycocalyx (GO:0030112)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)	4		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.122)			CCCACTGGTTGAACATTCCAG	0.473																																						uc002wcx.2		NaN																	0					0						c.(334-336)TGA>TAA		defensin, beta 126 preproprotein							94.0	98.0	97.0					20																	126332		2203	4300	6503	SO:0001819	synonymous_variant	81623				defense response to bacterium	extracellular region		g.chr20:126332G>A		CCDS12990.1	20p13	2010-03-30	2002-05-09	2002-05-10	ENSG00000125788	ENSG00000125788		"""Defensins, beta"""	15900	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 8"""	C20orf8		11854508	Standard	NM_030931		Approved	bA530N10.1, DEFB-26	uc002wcx.3	Q9BYW3	OTTHUMG00000031616	ENST00000382398.3:c.335G>A	20.37:g.126332G>A							p.*112*	NM_030931	NP_112193	Q9BYW3	DB126_HUMAN	OV - Ovarian serous cystadenocarcinoma(29;0.122)		2	353	+		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	112					Q562G3|Q9H1M5	Silent	SNP	ENST00000382398.3	37	c.335G>A	CCDS12990.1																																																																																				0.473	DEFB126-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077428.2		NM_030931		33	178	0	0	0	0.011902	0	33	178		
RALGAPB	57148	broad.mit.edu	37	20	37117126	37117126	+	Silent	SNP	C	C	T			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr20:37117126C>T	ENST00000262879.6	+	2	335	c.51C>T	c.(49-51)ggC>ggT	p.G17G	RALGAPB_ENST00000397038.1_5'UTR|RALGAPB_ENST00000397040.1_Silent_p.G17G|RALGAPB_ENST00000397042.3_Silent_p.G17G|RALGAPB_ENST00000537204.1_Silent_p.G17G			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	17					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						ATGATCAAGGCCATACCAGTG	0.493																																						uc002xiw.2		NaN																	0				pancreas(1)|skin(1)	2						c.(49-51)GGC>GGT		Ral GTPase activating protein, beta subunit							211.0	182.0	192.0					20																	37117126		2203	4300	6503	SO:0001819	synonymous_variant	57148				activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:37117126C>T	AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"""KIAA1219"""	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270	ENST00000262879.6:c.51C>T	20.37:g.37117126C>T						RALGAPB_uc010zvz.1_Silent_p.G17G|RALGAPB_uc002xix.2_Silent_p.G17G|RALGAPB_uc002xiy.1_Silent_p.G17G	p.G17G	NM_020336	NP_065069	Q86X10	RLGPB_HUMAN			2	308	+			17					A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Silent	SNP	ENST00000262879.6	37	c.51C>T	CCDS13305.1																																																																																				0.493	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079191.1		NM_020336		31	154	0	0	0	0.019004	0	31	154		
TOMM34	10953	broad.mit.edu	37	20	43572202	43572202	+	Silent	SNP	G	G	A			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr20:43572202G>A	ENST00000372813.3	-	6	869	c.717C>T	c.(715-717)gtC>gtT	p.V239V	PABPC1L_ENST00000372819.1_Intron|PABPC1L_ENST00000490798.1_Intron	NM_006809.4	NP_006800.2	Q15785	TOM34_HUMAN	translocase of outer mitochondrial membrane 34	239					protein targeting to mitochondrion (GO:0006626)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	heat shock protein binding (GO:0031072)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	11		Myeloproliferative disorder(115;0.0122)				ACTGCTTCAGGACCAAATAGC	0.502																																						uc002xmy.2		NaN																	0					0						c.(715-717)GTC>GTT		translocase of outer mitochondrial membrane 34							123.0	110.0	115.0					20																	43572202		2203	4300	6503	SO:0001819	synonymous_variant	10953				protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane	heat shock protein binding|signal sequence binding	g.chr20:43572202G>A	U58970	CCDS13340.1	20q12-q13.1	2013-01-10			ENSG00000025772	ENSG00000025772		"""Tetratricopeptide (TTC) repeat domain containing"""	15746	protein-coding gene	gene with protein product	"""outer mitochondrial membrane translocase (34kD)"""					9324309	Standard	NM_006809		Approved	TOM34, HTOM34P	uc002xmy.3	Q15785	OTTHUMG00000032552	ENST00000372813.3:c.717C>T	20.37:g.43572202G>A						PABPC1L_uc002xmx.2_Intron|TOMM34_uc002xmz.2_RNA	p.V239V	NM_006809	NP_006800	Q15785	TOM34_HUMAN			6	857	-		Myeloproliferative disorder(115;0.0122)	239			TPR 5.		Q53GH9|Q6IBN7|Q9NTZ3	Silent	SNP	ENST00000372813.3	37	c.717C>T	CCDS13340.1																																																																																				0.502	TOMM34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079390.3		NM_006809		17	84	0	0	0	0.008871	0	17	84		
SCAF4	57466	broad.mit.edu	37	21	33065763	33065763	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr21:33065763T>C	ENST00000286835.7	-	12	1739	c.1357A>G	c.(1357-1359)Aga>Gga	p.R453G	SCAF4_ENST00000399804.1_Missense_Mutation_p.R453G|SCAF4_ENST00000434667.3_Missense_Mutation_p.R438G	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	453						nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						CTTCGAGATCTAGAACCAGAT	0.453																																						uc002ypd.2		NaN																	0					0						c.(1357-1359)AGA>GGA		splicing factor, arginine/serine-rich 15 isoform							95.0	71.0	79.0					21																	33065763		2203	4300	6503	SO:0001583	missense	57466					nucleus	nucleotide binding|RNA binding	g.chr21:33065763T>C	AB032998	CCDS33537.1, CCDS46644.1, CCDS54482.1	21q22.1	2013-02-12	2011-01-10	2011-01-10	ENSG00000156304	ENSG00000156304		"""RNA binding motif (RRM) containing"""	19304	protein-coding gene	gene with protein product			"""splicing factor, arginine/serine-rich 15"""	SFRS15		10574461	Standard	NM_020706		Approved	KIAA1172, DKFZp434E098, SRA4	uc002ypd.2	O95104	OTTHUMG00000084903	ENST00000286835.7:c.1357A>G	21.37:g.33065763T>C	ENSP00000286835:p.Arg453Gly					SFRS15_uc002ype.2_Missense_Mutation_p.R453G|SFRS15_uc010glu.2_Missense_Mutation_p.R438G|SFRS15_uc002ypf.1_Missense_Mutation_p.R127G	p.R453G	NM_020706	NP_065757	O95104	SFR15_HUMAN			12	1783	-			453					C9JLZ0|Q0P5W8|Q6P1M5|Q8N3I8|Q9UFM1|Q9ULP8	Missense_Mutation	SNP	ENST00000286835.7	37	c.1357A>G	CCDS33537.1	.	.	.	.	.	.	.	.	.	.	T	17.61	3.433549	0.62955	.	.	ENSG00000156304	ENST00000434667;ENST00000286835;ENST00000399804	T;T;T	0.21031	2.03;2.03;2.03	5.2	4.01	0.46588	.	0.000000	0.85682	D	0.000000	T	0.32376	0.0827	L	0.31664	0.95	0.58432	D	0.999998	D;D;D;D	0.89917	0.999;0.998;1.0;0.999	D;D;D;D	0.83275	0.991;0.987;0.996;0.991	T	0.02417	-1.1162	10	0.51188	T	0.08	-16.0092	11.8048	0.52147	0.0:0.0:0.4759:0.5241	.	438;453;453;453	C9JLZ0;C9J1W7;O95104-2;O95104	.;.;.;SFR15_HUMAN	G	438;453;453	ENSP00000402377:R438G;ENSP00000286835:R453G;ENSP00000382703:R453G	ENSP00000286835:R453G	R	-	1	2	SCAF4	31987634	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.056000	0.57448	0.778000	0.33520	0.455000	0.32223	AGA		0.453	SCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000192659.1		XM_047889		25	11	0	0	0	0.013726	0	25	11		
MN1	4330	broad.mit.edu	37	22	28193514	28193514	+	Silent	SNP	C	C	T			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr22:28193514C>T	ENST00000302326.4	-	1	3972	c.3018G>A	c.(3016-3018)acG>acA	p.T1006T		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	1006					intramembranous ossification (GO:0001957)					NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						AGGATGGCGACGTGAGCGCCT	0.701			T	ETV6	"""AML, meningioma"""																																	uc003adj.2		NaN		Dom	yes		22	22q13	4330	T	meningioma (disrupted in balanced translocation) 1			"""L, O"""	ETV6		AML|meningioma		0				central_nervous_system(3)|lung(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1)	10						c.(3016-3018)ACG>ACA		meningioma  1							28.0	33.0	31.0					22																	28193514		2001	4150	6151	SO:0001819	synonymous_variant	4330						binding	g.chr22:28193514C>T	X82209	CCDS42998.1	22q12.1	2010-09-29			ENSG00000169184	ENSG00000169184			7180	protein-coding gene	gene with protein product	"""probable tumor suppressor protein MN1"""	156100	"""meningioma chromosome region"""	MGCR		7731706, 12569362	Standard	NM_002430		Approved	MGCR1-PEN, MGCR1	uc003adj.3	Q10571	OTTHUMG00000150975	ENST00000302326.4:c.3018G>A	22.37:g.28193514C>T							p.T1006T	NM_002430	NP_002421	Q10571	MN1_HUMAN			1	3973	-			1006					A9Z1V9	Silent	SNP	ENST00000302326.4	37	c.3018G>A	CCDS42998.1																																																																																				0.701	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320737.1		NM_002430		24	64	0	0	0	0.00632	0	24	64		
MAPK11	5600	broad.mit.edu	37	22	50705688	50705688	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr22:50705688G>A	ENST00000330651.6	-	5	545	c.445C>T	c.(445-447)Cgg>Tgg	p.R149W	MAPK11_ENST00000449719.2_Missense_Mutation_p.R41W|MAPK11_ENST00000495277.1_5'UTR	NM_002751.5	NP_002742.3	Q15759	MK11_HUMAN	mitogen-activated protein kinase 11	149	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|gene expression (GO:0010467)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mRNA metabolic process (GO:0016071)|muscle cell differentiation (GO:0042692)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of muscle cell differentiation (GO:0051149)|Ras protein signal transduction (GO:0007265)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|lung(4)	6		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	Regorafenib(DB08896)	GCACCTACCCGGTGGATGATC	0.721																																					GBM(9;634 739 50668)	uc003bkr.2		NaN																	0				lung(1)|breast(1)	2						c.(445-447)CGG>TGG		mitogen-activated protein kinase 11							22.0	28.0	26.0					22																	50705688		2186	4286	6472	SO:0001583	missense	5600				activation of MAPK activity|innate immune response|mRNA metabolic process|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding	g.chr22:50705688G>A	Y14440	CCDS14090.1	22q13.33	2011-06-09			ENSG00000185386	ENSG00000185386	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6873	protein-coding gene	gene with protein product		602898		PRKM11		9218798	Standard	NM_002751		Approved	p38-2, p38Beta, SAPK2	uc003bkr.3	Q15759	OTTHUMG00000150226	ENST00000330651.6:c.445C>T	22.37:g.50705688G>A	ENSP00000333685:p.Arg149Trp					MAPK11_uc010hax.2_5'UTR|MAPK11_uc011ars.1_RNA|MAPK11_uc010hay.1_RNA|MAPK11_uc011art.1_Missense_Mutation_p.P129L|MAPK11_uc010haz.2_Missense_Mutation_p.R41W	p.R149W	NM_002751	NP_002742	Q15759	MK11_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	5	503	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	149			Protein kinase.		A8K730|B0LPG1|B7Z630|E7ETQ1|L7RT27|O00284|O15472|Q2XNF2	Missense_Mutation	SNP	ENST00000330651.6	37	c.445C>T	CCDS14090.1	.	.	.	.	.	.	.	.	.	.	g	23.8	4.464387	0.84425	.	.	ENSG00000185386	ENST00000330651;ENST00000449719	T;T	0.32753	1.44;1.44	4.93	2.58	0.30949	Serine/threonine-protein kinase-like domain (1);MAP kinase, conserved site (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	U	0.000000	T	0.71558	0.3354	H	0.99697	4.71	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.995;0.998	T	0.82916	-0.0220	10	0.87932	D	0	-27.1259	12.0486	0.53493	0.0:0.0:0.6615:0.3385	.	41;149	B7Z630;Q15759	.;MK11_HUMAN	W	149;41	ENSP00000333685:R149W;ENSP00000406921:R41W	ENSP00000333685:R149W	R	-	1	2	MAPK11	49047815	0.998000	0.40836	1.000000	0.80357	0.849000	0.48306	0.333000	0.19768	2.320000	0.78422	0.537000	0.68136	CGG		0.721	MAPK11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316900.1				4	22	0	0	0	0.001984	0	4	22		
SLC6A1	6529	broad.mit.edu	37	3	11058951	11058951	+	Silent	SNP	C	C	T			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr3:11058951C>T	ENST00000287766.4	+	3	475	c.54C>T	c.(52-54)agC>agT	p.S18S	SLC6A1_ENST00000536032.1_Intron|SLC6A1-AS1_ENST00000414969.2_RNA|SLC6A1_ENST00000462473.1_Intron	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	18					gamma-aminobutyric acid import (GO:0051939)|learning (GO:0007612)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neurotransmitter secretion (GO:0007269)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|protein homooligomerization (GO:0051260)|response to calcium ion (GO:0051592)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to lead ion (GO:0010288)|response to purine-containing compound (GO:0014074)|response to sucrose (GO:0009744)|response to toxic substance (GO:0009636)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Clobazam(DB00349)|Tiagabine(DB00906)	CCGAGGTCAGCGAGGCCCCTG	0.637																																						uc010hdq.2		NaN																	0				ovary(1)|skin(1)	2						c.(52-54)AGC>AGT		solute carrier family 6 (neurotransmitter	Cocaine(DB00907)|Tiagabine(DB00906)						59.0	58.0	58.0					3																	11058951		2203	4300	6503	SO:0001819	synonymous_variant	6529				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr3:11058951C>T		CCDS2603.1	3p25.3	2013-07-19	2013-07-19		ENSG00000157103	ENSG00000157103		"""Solute carriers"""	11042	protein-coding gene	gene with protein product	"""GABA transporter 1"""	137165	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 1"""			8530094	Standard	NM_003042		Approved	GAT1, GABATR, GABATHG	uc010hdq.3	P30531	OTTHUMG00000044208	ENST00000287766.4:c.54C>T	3.37:g.11058951C>T							p.S18S	NM_003042	NP_003033	P30531	SC6A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	3	465	+		Ovarian(110;0.0392)	18			Cytoplasmic (Potential).		Q8N4K8	Silent	SNP	ENST00000287766.4	37	c.54C>T	CCDS2603.1																																																																																				0.637	SLC6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102767.2		NM_003042		12	65	0	0	0	0.013537	0	12	65		
NUP210	23225	broad.mit.edu	37	3	13376966	13376966	+	Silent	SNP	C	C	T	rs201141037		TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr3:13376966C>T	ENST00000254508.5	-	28	3913	c.3831G>A	c.(3829-3831)gaG>gaA	p.E1277E	NUP210_ENST00000485755.1_5'Flank	NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1277					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					GGACTTGGATCTCATCCGAGA	0.627																																						uc003bxv.1		NaN																	0				ovary(3)|large_intestine(3)|skin(3)|pancreas(1)|liver(1)	11						c.(3829-3831)GAG>GAA		nucleoporin 210 precursor							94.0	90.0	91.0					3																	13376966		2203	4300	6503	SO:0001819	synonymous_variant	23225				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr3:13376966C>T	AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.3831G>A	3.37:g.13376966C>T							p.E1277E	NM_024923	NP_079199	Q8TEM1	PO210_HUMAN			28	3914	-	all_neural(104;0.187)		1277			Lumenal (Probable).		A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Silent	SNP	ENST00000254508.5	37	c.3831G>A	CCDS33704.1																																																																																				0.627	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340085.1		NM_024923		25	184	0	0	0	0.017118	0	25	184		
NUP210	23225	broad.mit.edu	37	3	13376980	13376980	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr3:13376980C>T	ENST00000254508.5	-	28	3899	c.3817G>A	c.(3817-3819)Gaa>Aaa	p.E1273K	NUP210_ENST00000485755.1_5'Flank	NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1273					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					TCCGAGAGTTCTCTGGCCAGG	0.632																																						uc003bxv.1		NaN																	0				ovary(3)|large_intestine(3)|skin(3)|pancreas(1)|liver(1)	11						c.(3817-3819)GAA>AAA		nucleoporin 210 precursor							93.0	89.0	90.0					3																	13376980		2203	4300	6503	SO:0001583	missense	23225				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr3:13376980C>T	AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.3817G>A	3.37:g.13376980C>T	ENSP00000254508:p.Glu1273Lys						p.E1273K	NM_024923	NP_079199	Q8TEM1	PO210_HUMAN			28	3900	-	all_neural(104;0.187)		1273			Lumenal (Probable).		A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Missense_Mutation	SNP	ENST00000254508.5	37	c.3817G>A	CCDS33704.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.082835	0.76642	.	.	ENSG00000132182	ENST00000254508	T	0.05199	3.48	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.27697	0.0681	M	0.78637	2.42	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.00904	-1.1520	10	0.44086	T	0.13	.	18.9648	0.92692	0.0:1.0:0.0:0.0	.	1273	Q8TEM1	PO210_HUMAN	K	1273	ENSP00000254508:E1273K	ENSP00000254508:E1273K	E	-	1	0	NUP210	13351980	1.000000	0.71417	0.082000	0.20525	0.143000	0.21401	7.379000	0.79691	2.523000	0.85059	0.655000	0.94253	GAA		0.632	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340085.1		NM_024923		15	164	0	0	0	0.024334	0	15	164		
NUP210	23225	broad.mit.edu	37	3	13377022	13377022	+	Missense_Mutation	SNP	C	C	T	rs146409293		TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr3:13377022C>T	ENST00000254508.5	-	28	3857	c.3775G>A	c.(3775-3777)Gct>Act	p.A1259T	NUP210_ENST00000485755.1_5'Flank	NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1259					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					GGGTCCACAGCCTTGACCACC	0.617																																						uc003bxv.1		NaN																	0				ovary(3)|large_intestine(3)|skin(3)|pancreas(1)|liver(1)	11						c.(3775-3777)GCT>ACT		nucleoporin 210 precursor							95.0	88.0	90.0					3																	13377022		2203	4300	6503	SO:0001583	missense	23225				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr3:13377022C>T	AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.3775G>A	3.37:g.13377022C>T	ENSP00000254508:p.Ala1259Thr						p.A1259T	NM_024923	NP_079199	Q8TEM1	PO210_HUMAN			28	3858	-	all_neural(104;0.187)		1259			Lumenal (Probable).		A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Missense_Mutation	SNP	ENST00000254508.5	37	c.3775G>A	CCDS33704.1	.	.	.	.	.	.	.	.	.	.	C	10.61	1.397480	0.25205	.	.	ENSG00000132182	ENST00000254508	T	0.05319	3.46	5.13	4.26	0.50523	.	0.144283	0.48767	D	0.000178	T	0.06554	0.0168	L	0.42581	1.335	0.41939	D	0.990605	B	0.28667	0.219	B	0.22880	0.042	T	0.25467	-1.0131	10	0.46703	T	0.11	.	10.5232	0.44931	0.0:0.7927:0.135:0.0723	.	1259	Q8TEM1	PO210_HUMAN	T	1259	ENSP00000254508:A1259T	ENSP00000254508:A1259T	A	-	1	0	NUP210	13352022	1.000000	0.71417	0.793000	0.32043	0.204000	0.24138	3.698000	0.54771	1.287000	0.44583	-0.122000	0.15005	GCT		0.617	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340085.1		NM_024923		9	110	0	0	0	0.013537	0	9	110		
NUP210	23225	broad.mit.edu	37	3	13377029	13377029	+	Silent	SNP	C	C	T			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr3:13377029C>T	ENST00000254508.5	-	28	3850	c.3768G>A	c.(3766-3768)gtG>gtA	p.V1256V	NUP210_ENST00000485755.1_5'Flank	NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1256					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					CAGCCTTGACCACCACCCTCA	0.602																																						uc003bxv.1		NaN																	0				ovary(3)|large_intestine(3)|skin(3)|pancreas(1)|liver(1)	11						c.(3766-3768)GTG>GTA		nucleoporin 210 precursor							91.0	84.0	87.0					3																	13377029		2203	4300	6503	SO:0001819	synonymous_variant	23225				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr3:13377029C>T	AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.3768G>A	3.37:g.13377029C>T							p.V1256V	NM_024923	NP_079199	Q8TEM1	PO210_HUMAN			28	3851	-	all_neural(104;0.187)		1256			Lumenal (Probable).		A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Silent	SNP	ENST00000254508.5	37	c.3768G>A	CCDS33704.1																																																																																				0.602	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340085.1		NM_024923		8	112	0	0	0	0.008291	0	8	112		
NUP210	23225	broad.mit.edu	37	3	13377074	13377074	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr3:13377074C>T	ENST00000254508.5	-	28	3805	c.3723G>A	c.(3721-3723)atG>atA	p.M1241I	NUP210_ENST00000485755.1_5'Flank	NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1241					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					CGAGCACGTTCATGGCAAAGT	0.602																																						uc003bxv.1		NaN																	0				ovary(3)|large_intestine(3)|skin(3)|pancreas(1)|liver(1)	11						c.(3721-3723)ATG>ATA		nucleoporin 210 precursor							79.0	75.0	76.0					3																	13377074		2203	4300	6503	SO:0001583	missense	23225				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr3:13377074C>T	AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.3723G>A	3.37:g.13377074C>T	ENSP00000254508:p.Met1241Ile						p.M1241I	NM_024923	NP_079199	Q8TEM1	PO210_HUMAN			28	3806	-	all_neural(104;0.187)		1241			Lumenal (Probable).		A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Missense_Mutation	SNP	ENST00000254508.5	37	c.3723G>A	CCDS33704.1	.	.	.	.	.	.	.	.	.	.	C	19.43	3.826630	0.71143	.	.	ENSG00000132182	ENST00000254508	T	0.05139	3.49	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.09202	0.0227	M	0.69248	2.105	0.80722	D	1	P	0.41450	0.75	B	0.32864	0.154	T	0.31052	-0.9957	10	0.22706	T	0.39	.	19.2776	0.94038	0.0:1.0:0.0:0.0	.	1241	Q8TEM1	PO210_HUMAN	I	1241	ENSP00000254508:M1241I	ENSP00000254508:M1241I	M	-	3	0	NUP210	13352074	1.000000	0.71417	0.998000	0.56505	0.596000	0.36781	7.379000	0.79691	2.611000	0.88343	0.655000	0.94253	ATG		0.602	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340085.1		NM_024923		9	99	0	0	0	0.010729	0	9	99		
PTPRG	5793	broad.mit.edu	37	3	61989042	61989042	+	Silent	SNP	C	C	T	rs189356599		TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr3:61989042C>T	ENST00000474889.1	+	4	767	c.390C>T	c.(388-390)gaC>gaT	p.D130D	PTPRG_ENST00000295874.10_Silent_p.D130D	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	130	Alpha-carbonic anhydrase.				brain development (GO:0007420)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of neuron projection development (GO:0010977)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		TTCTGAAAGACGACTATTTTG	0.438																																						uc003dlb.2		NaN																	0				ovary(5)|lung(2)	7						c.(388-390)GAC>GAT		protein tyrosine phosphatase, receptor type, G							93.0	93.0	93.0					3																	61989042		2203	4300	6503	SO:0001819	synonymous_variant	5793				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr3:61989042C>T	L09247	CCDS2895.1	3p21-p14	2013-02-11			ENSG00000144724	ENSG00000144724		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9671	protein-coding gene	gene with protein product		176886		PTPG		1711217	Standard	NM_002841		Approved	RPTPG	uc003dlb.3	P23470	OTTHUMG00000158660	ENST00000474889.1:c.390C>T	3.37:g.61989042C>T						PTPRG_uc003dlc.2_Silent_p.D130D	p.D130D	NM_002841	NP_002832	P23470	PTPRG_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)	4	1109	+			130			Extracellular (Potential).|Alpha-carbonic anhydrase.		B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5	Silent	SNP	ENST00000474889.1	37	c.390C>T	CCDS2895.1																																																																																				0.438	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351674.1		NM_002841		22	72	0	0	0	0.007291	0	22	72		
FAM19A1	407738	broad.mit.edu	37	3	68466476	68466476	+	Silent	SNP	G	G	A			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr3:68466476G>A	ENST00000478136.1	+	3	655	c.165G>A	c.(163-165)aaG>aaA	p.K55K	FAM19A1_ENST00000491017.1_3'UTR|FAM19A1_ENST00000496687.1_Silent_p.K55K	NM_213609.3	NP_998774.2	Q7Z5A9	F19A1_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A1	55						endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	7		Lung NSC(201;0.0117)		BRCA - Breast invasive adenocarcinoma(55;7.7e-05)|Epithelial(33;0.000937)|KIRC - Kidney renal clear cell carcinoma(39;0.0579)|Kidney(39;0.0743)		GTTGTAACAAGAATCGCATTG	0.468																																						uc003dnd.2		NaN																	0				ovary(1)	1						c.(163-165)AAG>AAA		family with sequence similarity 19 (chemokine							132.0	129.0	130.0					3																	68466476		1959	4138	6097	SO:0001819	synonymous_variant	407738					endoplasmic reticulum|extracellular region		g.chr3:68466476G>A	AY325114	CCDS54606.1	3p14.1	2005-01-20			ENSG00000183662	ENSG00000183662			21587	protein-coding gene	gene with protein product						15028294	Standard	NM_213609		Approved	TAFA-1	uc003dnd.3	Q7Z5A9	OTTHUMG00000158745	ENST00000478136.1:c.165G>A	3.37:g.68466476G>A						FAM19A1_uc003dne.2_Silent_p.K55K|FAM19A1_uc003dng.2_Silent_p.K55K	p.K55K	NM_213609	NP_998774	Q7Z5A9	F19A1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;7.7e-05)|Epithelial(33;0.000937)|KIRC - Kidney renal clear cell carcinoma(39;0.0579)|Kidney(39;0.0743)	3	381	+		Lung NSC(201;0.0117)	55					A8K0V3|Q8TCL8	Silent	SNP	ENST00000478136.1	37	c.165G>A	CCDS54606.1																																																																																				0.468	FAM19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352004.1		NM_213609		27	41	0	0	0	0.00632	0	27	41		
MORC1	27136	broad.mit.edu	37	3	108682322	108682322	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr3:108682322G>C	ENST00000483760.1	-	26	2718	c.2675C>G	c.(2674-2676)tCt>tGt	p.S892C	MORC1_ENST00000232603.5_Missense_Mutation_p.S913C					MORC family CW-type zinc finger 1											breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						CTTATCCTCAGAGATTTTTCT	0.343																																						uc003dxl.2		NaN																	0				ovary(3)|skin(3)|breast(2)	8						c.(2737-2739)TCT>TGT		MORC family CW-type zinc finger 1							208.0	207.0	207.0					3																	108682322		2202	4300	6502	SO:0001583	missense	27136				cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	g.chr3:108682322G>C	AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"""cancer/testis antigen 33"""	603205	"""microrchidia (mouse) homolog"", ""microrchidia homolog (mouse)"""	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.2675C>G	3.37:g.108682322G>C	ENSP00000417282:p.Ser892Cys					MORC1_uc011bhn.1_Missense_Mutation_p.S892C	p.S913C	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN			27	2825	-			913			Potential.			Missense_Mutation	SNP	ENST00000483760.1	37	c.2738C>G		.	.	.	.	.	.	.	.	.	.	G	7.642	0.681151	0.14907	.	.	ENSG00000114487	ENST00000232603;ENST00000483760	T;T	0.07114	3.24;3.22	5.04	4.17	0.49024	.	0.463335	0.18438	N	0.141238	T	0.05640	0.0148	N	0.14661	0.345	0.09310	N	0.999998	B;P	0.39964	0.42;0.697	B;B	0.38500	0.137;0.275	T	0.30268	-0.9984	10	0.49607	T	0.09	-3.7183	9.1852	0.37165	0.0977:0.0:0.9023:0.0	.	892;913	E7ERX1;Q86VD1	.;MORC1_HUMAN	C	913;892	ENSP00000232603:S913C;ENSP00000417282:S892C	ENSP00000232603:S913C	S	-	2	0	MORC1	110165012	0.978000	0.34361	0.228000	0.23943	0.073000	0.16967	2.891000	0.48617	1.361000	0.45981	0.591000	0.81541	TCT		0.343	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1				38	55	0	0	0	0.01441	0	38	55		
MAATS1	89876	broad.mit.edu	37	3	119445049	119445049	+	Silent	SNP	G	G	A			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr3:119445049G>A	ENST00000273390.5	+	7	791	c.714G>A	c.(712-714)gtG>gtA	p.V238V		NM_033364.3	NP_203528	Q7Z4T9	MAAT1_HUMAN	MYCBP-associated, testis expressed 1	238						mitochondrion (GO:0005739)											AAGCTGAGGTGGAGATGATAG	0.532																																						uc003ede.3		NaN																	0				ovary(2)|pancreas(1)	3						c.(712-714)GTG>GTA		AAT1-alpha							47.0	46.0	46.0					3																	119445049		2203	4300	6503	SO:0001819	synonymous_variant	89876					mitochondrion	protein binding	g.chr3:119445049G>A	AB063296	CCDS2994.1	3q12-q13.3	2014-07-31	2012-12-07	2012-09-26	ENSG00000183833	ENSG00000183833			24010	protein-coding gene	gene with protein product	"""AMY-1-associating protein expressed in testis 1"", ""MYCBP-binding protein"", ""spermatogenesis associated 26"""	609910	"""chromosome 3 open reading frame 15"", ""MYCBP/AMY-1-associated, testis expressed 1"""	C3orf15		12223483, 14551891, 17967944	Standard	NM_033364		Approved	AAT1, AAT1alpha, SPATA26, CaM-IP2	uc003ede.4	Q7Z4T9	OTTHUMG00000159422	ENST00000273390.5:c.714G>A	3.37:g.119445049G>A						C3orf15_uc010hqy.1_Silent_p.V238V|C3orf15_uc010hqz.2_Silent_p.V176V|C3orf15_uc011bjd.1_Silent_p.V112V|C3orf15_uc011bje.1_Silent_p.V218V|C3orf15_uc010hra.1_5'UTR	p.V238V	NM_033364	NP_203528	Q7Z4T9	AAT1_HUMAN		GBM - Glioblastoma multiforme(114;0.186)	7	791	+			238					A0AVK2|A8K1J9|B3KP23|B4DG52|B4DZ14|C9JUG4|Q68DX2|Q8TD41|Q96A45|Q96JE8	Silent	SNP	ENST00000273390.5	37	c.714G>A	CCDS2994.1																																																																																				0.532	MAATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355222.1		NM_033364		14	28	0	0	0	0.024245	0	14	28		
ZIC1	7545	broad.mit.edu	37	3	147127954	147127954	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr3:147127954G>A	ENST00000282928.4	+	1	784	c.55G>A	c.(55-57)Gcg>Acg	p.A19T		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	19					adult walking behavior (GO:0007628)|brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|pattern specification process (GO:0007389)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord development (GO:0021510)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						CACCTTTGGCGCGTCCCGCCA	0.741																																						uc003ewe.2		NaN																	0		p.A19A(1)		ovary(1)|central_nervous_system(1)	2						c.(55-57)GCG>ACG		zinc finger protein of the cerebellum 1							19.0	20.0	20.0					3																	147127954		2167	4261	6428	SO:0001583	missense	7545				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:147127954G>A	D76435	CCDS3136.1	3q24	2013-01-08	2011-05-19		ENSG00000152977	ENSG00000152977		"""Zinc fingers, C2H2-type"""	12872	protein-coding gene	gene with protein product		600470	"""Zic family member 1 (odd-paired Drosophila homolog)"", ""Zic family member 1 (odd-paired homolog, Drosophila)"""			8542595	Standard	NM_003412		Approved	ZIC, ZNF201	uc003ewe.3	Q15915	OTTHUMG00000159456	ENST00000282928.4:c.55G>A	3.37:g.147127954G>A	ENSP00000282928:p.Ala19Thr						p.A19T	NM_003412	NP_003403	Q15915	ZIC1_HUMAN			1	774	+			19					Q2M3N1	Missense_Mutation	SNP	ENST00000282928.4	37	c.55G>A	CCDS3136.1	.	.	.	.	.	.	.	.	.	.	G	9.785	1.176240	0.21704	.	.	ENSG00000152977	ENST00000282928	T	0.11604	2.76	3.88	2.72	0.32119	.	0.129491	0.53938	D	0.000053	T	0.04272	0.0118	N	0.08118	0	0.31448	N	0.671058	B	0.02656	0.0	B	0.01281	0.0	T	0.23691	-1.0181	10	0.17832	T	0.49	.	5.5297	0.16976	0.1215:0.0:0.5357:0.3427	.	19	Q15915	ZIC1_HUMAN	T	19	ENSP00000282928:A19T	ENSP00000282928:A19T	A	+	1	0	ZIC1	148610644	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.019000	0.49635	1.712000	0.51347	0.442000	0.29010	GCG		0.741	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355497.1		NM_003412		12	37	0	0	0	0.020292	0	12	37		
ACTRT3	84517	broad.mit.edu	37	3	169485270	169485270	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr3:169485270C>T	ENST00000330368.2	-	2	1443	c.1069G>A	c.(1069-1071)Gca>Aca	p.A357T	TERC_ENST00000602385.1_lincRNA|RP11-816J6.3_ENST00000602879.1_RNA	NM_032487.4	NP_115876.3	Q9BYD9	ACTT3_HUMAN	actin-related protein T3	357						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|male germ cell nucleus (GO:0001673)											TTAAATTCTGCAGCAGTGATC	0.398																																						uc003ffs.1		NaN																	0					0						c.(1069-1071)GCA>ACA		actin related protein M1							87.0	87.0	87.0					3																	169485270		2203	4300	6503	SO:0001583	missense	84517					cytoplasm|cytoskeleton		g.chr3:169485270C>T	AK055346	CCDS3206.1	3q26.2	2012-04-10			ENSG00000184378	ENSG00000184378			24022	protein-coding gene	gene with protein product	"""actin related protein M1"""	608534				11750065, 18692047	Standard	NM_032487		Approved	ARPM1	uc003ffs.2	Q9BYD9		ENST00000330368.2:c.1069G>A	3.37:g.169485270C>T	ENSP00000333037:p.Ala357Thr					TERC_uc003ffr.1_5'Flank	p.A357T	NM_032487	NP_115876	Q9BYD9	ARPM1_HUMAN	Epithelial(2;4.03e-64)|all cancers(2;5.01e-59)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)		2	1444	-	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		357					Q96IS0|Q96NJ0	Missense_Mutation	SNP	ENST00000330368.2	37	c.1069G>A	CCDS3206.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.150904	0.78001	.	.	ENSG00000184378	ENST00000330368	D	0.94576	-3.46	5.03	4.11	0.48088	.	0.000000	0.50627	D	0.000103	D	0.93588	0.7953	M	0.67953	2.075	0.33746	D	0.620095	P	0.43938	0.822	P	0.45998	0.5	D	0.95808	0.8839	10	0.87932	D	0	.	9.8752	0.41200	0.1537:0.6974:0.1489:0.0	.	357	Q9BYD9	ARPM1_HUMAN	T	357	ENSP00000333037:A357T	ENSP00000333037:A357T	A	-	1	0	AC078802.1	170967964	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.708000	0.37899	2.627000	0.88993	0.561000	0.74099	GCA		0.398	ACTRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467797.1		NM_032487		14	195	0	0	0	0.00499	0	14	195		
TP63	8626	broad.mit.edu	37	3	189455639	189455639	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr3:189455639T>C	ENST00000264731.3	+	2	262	c.173T>C	c.(172-174)aTc>aCc	p.I58T	TP63_ENST00000382063.4_Missense_Mutation_p.I58T|TP63_ENST00000320472.5_Missense_Mutation_p.I58T|TP63_ENST00000440651.2_Missense_Mutation_p.I58T|TP63_ENST00000418709.2_Missense_Mutation_p.I58T|TP63_ENST00000392460.3_Missense_Mutation_p.I58T	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	58	Transcription activation.				apoptotic process (GO:0006915)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|cloacal septation (GO:0060197)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|ectoderm and mesoderm interaction (GO:0007499)|embryonic limb morphogenesis (GO:0030326)|epidermal cell division (GO:0010481)|epithelial cell development (GO:0002064)|establishment of planar polarity (GO:0001736)|establishment of skin barrier (GO:0061436)|female genitalia morphogenesis (GO:0048807)|hair follicle morphogenesis (GO:0031069)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organismal aging (GO:0010259)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mesoderm development (GO:2000381)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|polarized epithelial cell differentiation (GO:0030859)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|prostatic bud formation (GO:0060513)|protein homotetramerization (GO:0051289)|proximal/distal pattern formation (GO:0009954)|regulation of epidermal cell division (GO:0010482)|regulation of neuron apoptotic process (GO:0043523)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|sympathetic nervous system development (GO:0048485)|urinary bladder development (GO:0060157)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|WW domain binding (GO:0050699)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		TTCCAGCATATCTGGGATTTT	0.403										HNSCC(45;0.13)																												uc003fry.2		NaN																	0				skin(5)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	12						c.(172-174)ATC>ACC		tumor protein p63 isoform 1							74.0	72.0	73.0					3																	189455639		2203	4300	6503	SO:0001583	missense	8626	Hay-Wells_syndrome			anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:189455639T>C	AB010153	CCDS3293.1, CCDS46976.1, CCDS46977.1, CCDS46978.1, CCDS46979.1, CCDS46980.1	3q27-q29	2014-09-17			ENSG00000073282	ENSG00000073282			15979	protein-coding gene	gene with protein product		603273	"""tumor protein p73-like"", ""tumor protein p53-like"", ""tumor protein p53-competing protein"""	TP73L, TP53L, TP53CP		9774969, 9662378, 11181441, 11181451	Standard	NM_003722		Approved	p51, SHFM4, EEC3, p63, p73L, OFC8, KET, p73H, NBP, p53CP	uc003fry.2	Q9H3D4	OTTHUMG00000156313	ENST00000264731.3:c.173T>C	3.37:g.189455639T>C	ENSP00000264731:p.Ile58Thr	HNSCC(45;0.13)				TP63_uc003frx.2_Missense_Mutation_p.I58T|TP63_uc003frz.2_Missense_Mutation_p.I58T|TP63_uc010hzc.1_Missense_Mutation_p.I58T	p.I58T	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)	2	262	+	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		58			Transcription activation.		O75080|O75195|O75922|O76078|Q6VEG2|Q6VEG3|Q6VEG4|Q6VFJ1|Q6VFJ2|Q6VFJ3|Q6VH20|Q7LDI3|Q7LDI4|Q7LDI5|Q96KR0|Q9H3D2|Q9H3D3|Q9H3P8|Q9NPH7|Q9P1B4|Q9P1B5|Q9P1B6|Q9P1B7|Q9UBV9|Q9UE10|Q9UP26|Q9UP27|Q9UP28|Q9UP74	Missense_Mutation	SNP	ENST00000264731.3	37	c.173T>C	CCDS3293.1	.	.	.	.	.	.	.	.	.	.	T	15.63	2.891498	0.52014	.	.	ENSG00000073282	ENST00000264731;ENST00000418709;ENST00000320472;ENST00000392460;ENST00000440651;ENST00000382063	D;D;D;D;D;D	0.99769	-6.17;-6.46;-6.41;-6.41;-6.17;-6.7	5.56	5.56	0.83823	.	0.233701	0.39985	N	0.001212	D	0.98220	0.9411	N	0.08118	0	0.80722	D	1	P;P;P;P	0.42039	0.769;0.769;0.659;0.769	B;B;B;B	0.40940	0.275;0.19;0.093;0.344	D	0.99967	1.1880	9	.	.	.	-14.7657	14.8889	0.70590	0.0:0.0:0.0:1.0	.	58;58;58;58	Q9H3D4-7;Q9H3D4-3;Q9H3D4;Q9H3D4-5	.;.;P63_HUMAN;.	T	58	ENSP00000264731:I58T;ENSP00000407144:I58T;ENSP00000317510:I58T;ENSP00000376253:I58T;ENSP00000394337:I58T;ENSP00000371495:I58T	.	I	+	2	0	TP63	190938333	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.948000	0.70249	2.105000	0.64084	0.533000	0.62120	ATC		0.403	TP63-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000343865.1		NM_003722		14	51	0	0	0	0.028581	0	14	51		
CRMP1	1400	broad.mit.edu	37	4	5837699	5837699	+	Silent	SNP	G	G	A	rs377701143		TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr4:5837699G>A	ENST00000397890.2	-	11	1438	c.1224C>T	c.(1222-1224)gaC>gaT	p.D408D	CRMP1_ENST00000512574.1_Silent_p.D406D|CRMP1_ENST00000324989.7_Silent_p.D522D|CRMP1_ENST00000511535.1_5'UTR	NM_001313.3	NP_001304.1	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1	408					axon guidance (GO:0007411)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|pyrimidine nucleobase catabolic process (GO:0006208)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		AGATGACCACGTCGGCATCCG	0.517																																						uc003gip.2		NaN																	0				ovary(2)	2						c.(1222-1224)GAC>GAT		collapsin response mediator protein 1 isoform 2		G	,	0,4406		0,0,2203	145.0	132.0	136.0		1566,1224	-1.6	0.9	4		136	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	CRMP1	NM_001014809.1,NM_001313.3	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	522/687,408/573	5837699	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1400				axon guidance|pyrimidine base catabolic process	cytosol|microtubule organizing center|spindle	dihydropyrimidinase activity|protein binding	g.chr4:5837699G>A	D78012	CCDS33950.1, CCDS43207.1, CCDS75102.1	4p16.1	2008-05-15			ENSG00000072832	ENSG00000072832			2365	protein-coding gene	gene with protein product		602462				8973361	Standard	XM_005247940		Approved	DRP-1, DPYSL1	uc003gis.3	Q14194	OTTHUMG00000125489	ENST00000397890.2:c.1224C>T	4.37:g.5837699G>A						CRMP1_uc003gin.1_Silent_p.D320D|CRMP1_uc003giq.2_Silent_p.D408D|CRMP1_uc003gir.2_Silent_p.D403D|CRMP1_uc003gis.2_Silent_p.D522D	p.D408D	NM_001313	NP_001304	Q14194	DPYL1_HUMAN		Colorectal(103;0.0721)	12	1325	-			408					A0EJG6|Q13024|Q4W5F1|Q96TC8	Silent	SNP	ENST00000397890.2	37	c.1224C>T	CCDS43207.1																																																																																				0.517	CRMP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358871.1		NM_001313		33	84	0	0	0	0.015359	0	33	84		
LGI2	55203	broad.mit.edu	37	4	25005321	25005321	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr4:25005321C>A	ENST00000382114.4	-	8	1575	c.1390G>T	c.(1390-1392)Gcc>Tcc	p.A464S		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	464						extracellular region (GO:0005576)				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				AGGGTCATGGCCCCCCGGGAT	0.512																																						uc003grf.2		NaN																	0					0						c.(1390-1392)GCC>TCC		leucine-rich repeat LGI family, member 2							107.0	120.0	116.0					4																	25005321		2203	4300	6503	SO:0001583	missense	55203					extracellular region		g.chr4:25005321C>A	AJ487516	CCDS3431.1	4p15.31	2008-07-28			ENSG00000153012	ENSG00000153012			18710	protein-coding gene	gene with protein product		608301				12023020, 16014869	Standard	NM_018176		Approved	KIAA1916, FLJ10675	uc003grf.2	Q8N0V4	OTTHUMG00000097749	ENST00000382114.4:c.1390G>T	4.37:g.25005321C>A	ENSP00000371548:p.Ala464Ser						p.A464S	NM_018176	NP_060646	Q8N0V4	LGI2_HUMAN			8	1489	-		Breast(46;0.173)	464			EAR 6.		Q3MIN2|Q8NDW6|Q96PX2|Q9NVK4	Missense_Mutation	SNP	ENST00000382114.4	37	c.1390G>T	CCDS3431.1	.	.	.	.	.	.	.	.	.	.	C	6.011	0.370407	0.11352	.	.	ENSG00000153012	ENST00000382114;ENST00000282970	T	0.80214	-1.35	5.77	5.77	0.91146	.	0.050375	0.85682	D	0.000000	T	0.61751	0.2372	N	0.02368	-0.58	0.53688	D	0.999975	B	0.15141	0.012	B	0.21546	0.035	T	0.60161	-0.7317	10	0.10377	T	0.69	-31.1451	19.9944	0.97379	0.0:1.0:0.0:0.0	.	464	Q8N0V4	LGI2_HUMAN	S	464;112	ENSP00000371548:A464S	ENSP00000282970:A112S	A	-	1	0	LGI2	24614419	0.999000	0.42202	0.989000	0.46669	0.985000	0.73830	4.048000	0.57390	2.720000	0.93068	0.557000	0.71058	GCC		0.512	LGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214978.1				27	146	1	0	3.00307e-07	0.008361	3.19434e-07	27	146		
TBC1D1	23216	broad.mit.edu	37	4	38016441	38016441	+	Silent	SNP	G	G	A			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr4:38016441G>A	ENST00000261439.4	+	3	1084	c.729G>A	c.(727-729)tcG>tcA	p.S243S	TBC1D1_ENST00000508802.1_Silent_p.S243S	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	243					membrane organization (GO:0061024)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						GCCTGCGCTCGCTGGCCTTTA	0.672																																						uc003gtb.2		NaN																	0				ovary(1)	1						c.(727-729)TCG>TCA		TBC1 (tre-2/USP6, BUB2, cdc16) domain family,							19.0	21.0	21.0					4																	38016441		2184	4297	6481	SO:0001819	synonymous_variant	23216					nucleus	Rab GTPase activator activity	g.chr4:38016441G>A	AB029031	CCDS33972.1, CCDS58897.1	4p14	2013-07-09			ENSG00000065882	ENSG00000065882			11578	protein-coding gene	gene with protein product		609850				10965142, 18258599	Standard	NM_015173		Approved	TBC, TBC1, KIAA1108	uc003gtb.3	Q86TI0	OTTHUMG00000150302	ENST00000261439.4:c.729G>A	4.37:g.38016441G>A						TBC1D1_uc011byd.1_Silent_p.S243S|TBC1D1_uc010ifd.2_Intron|TBC1D1_uc011byf.1_Silent_p.S114S	p.S243S	NM_015173	NP_055988	Q86TI0	TBCD1_HUMAN			3	1072	+			243					B7Z3D9|E9PGH8|Q96K82|Q9UPP4	Silent	SNP	ENST00000261439.4	37	c.729G>A	CCDS33972.1																																																																																				0.672	TBC1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317443.2		NM_015173		7	7	0	0	0	0.001984	0	7	7		
FRYL	285527	broad.mit.edu	37	4	48549697	48549697	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr4:48549697G>A	ENST00000503238.1	-	38	4977	c.4978C>T	c.(4978-4980)Cga>Tga	p.R1660*	FRYL_ENST00000537810.1_Nonsense_Mutation_p.R1660*|FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000358350.4_Nonsense_Mutation_p.R1660*			O94915	FRYL_HUMAN	FRY-like	1660					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						GCAACAGTTCGGATGTTACTA	0.418																																						uc003gyh.1		NaN																	0				skin(1)	1						c.(4978-4980)CGA>TGA		furry-like							89.0	85.0	87.0					4																	48549697		1877	4106	5983	SO:0001587	stop_gained	285527				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr4:48549697G>A	AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"""KIAA0826"", ""furry homolog-like (Drosophila)"""	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.4978C>T	4.37:g.48549697G>A	ENSP00000426064:p.Arg1660*					FRYL_uc003gyg.1_Nonsense_Mutation_p.R356*|FRYL_uc003gyi.1_Nonsense_Mutation_p.R549*|FRYL_uc003gyj.1_5'Flank	p.R1660*	NM_015030	NP_055845	O94915	FRYL_HUMAN			41	5583	-			1660					O95640|Q8WTZ5|Q9NT40	Nonsense_Mutation	SNP	ENST00000503238.1	37	c.4978C>T	CCDS43227.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	48|48	14.491766|14.491766	0.99798|0.99798	.|.	.|.	ENSG00000075539|ENSG00000075539	ENST00000514617|ENST00000503238;ENST00000358350;ENST00000537810	.|.	.|.	.|.	5.53|5.53	5.53|5.53	0.82687|0.82687	.|.	.|0.066479	.|0.64402	.|D	.|0.000007	T|.	0.66858|.	0.2832|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.58853|.	-0.7563|.	4|.	.|0.16420	.|T	.|0.52	.|.	19.4561|19.4561	0.94889|0.94889	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	L|X	530|1660	.|.	.|ENSP00000351113:R1660X	P|R	-|-	2|1	0|2	FRYL|FRYL	48244454|48244454	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.454000|0.454000	0.32378|0.32378	9.420000|9.420000	0.97426|0.97426	2.596000|2.596000	0.87737|0.87737	0.460000|0.460000	0.39030|0.39030	CCG|CGA		0.418	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2				12	37	0	0	0	0.013537	0	12	37		
PDGFRA	5156	broad.mit.edu	37	4	55140704	55140704	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr4:55140704G>A	ENST00000257290.5	+	11	1896	c.1565G>A	c.(1564-1566)cGt>cAt	p.R522H	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	522					adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	GTAGCCCTGCGTTCTGAACTC	0.498			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)	uc003han.3		NaN		Dom	yes		4	4q11-q13	5156	Mis|O|T	"""platelet-derived growth factor, alpha-receptor"""			"""L, M, O"""	FIP1L1		GIST|idiopathic hypereosinophilic syndrome		0				soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1)	674						c.(1564-1566)CGT>CAT		platelet-derived growth factor receptor alpha	Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)						166.0	150.0	155.0					4																	55140704		2203	4300	6503	SO:0001583	missense	5156	Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	g.chr4:55140704G>A	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.1565G>A	4.37:g.55140704G>A	ENSP00000257290:p.Arg522His	TSP Lung(21;0.16)				PDGFRA_uc003haa.2_Intron|PDGFRA_uc010igq.1_Missense_Mutation_p.R416H|PDGFRA_uc003ham.2_RNA|PDGFRA_uc003hao.1_5'Flank	p.R522H	NM_006206	NP_006197	P16234	PGFRA_HUMAN	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		11	1896	+	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		522			Extracellular (Potential).		B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Missense_Mutation	SNP	ENST00000257290.5	37	c.1565G>A	CCDS3495.1	.	.	.	.	.	.	.	.	.	.	G	9.609	1.130862	0.21041	.	.	ENSG00000134853	ENST00000257290	T	0.76186	-1.0	6.07	4.37	0.52481	.	0.000000	0.31542	U	0.007464	T	0.51941	0.1704	N	0.08118	0	0.80722	D	1	B;B	0.12013	0.003;0.005	B;B	0.06405	0.002;0.001	T	0.41520	-0.9504	10	0.10902	T	0.67	.	12.8769	0.57996	0.131:0.0:0.869:0.0	.	522;522	P16234-3;P16234	.;PGFRA_HUMAN	H	522	ENSP00000257290:R522H	ENSP00000257290:R522H	R	+	2	0	PDGFRA	54835461	1.000000	0.71417	0.997000	0.53966	0.719000	0.41307	3.232000	0.51302	0.908000	0.36671	-0.150000	0.13652	CGT		0.498	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2		NM_006206		27	83	0	0	0	0.009535	0	27	83		
SORBS2	8470	broad.mit.edu	37	4	186545479	186545479	+	Silent	SNP	G	G	A			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr4:186545479G>A	ENST00000284776.7	-	13	1601	c.1092C>T	c.(1090-1092)aaC>aaT	p.N364N	SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000418609.1_Silent_p.N268N|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000355634.5_Silent_p.N464N|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000431808.1_Silent_p.N364N|SORBS2_ENST00000319471.9_Intron	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	364					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		AGATTTCTGCGTTTTGCCGGG	0.517																																					Esophageal Squamous(153;41 2433 9491 36028)	uc003iyl.2		NaN																	0				ovary(1)	1						c.(1090-1092)AAC>AAT		sorbin and SH3 domain containing 2 isoform 2							68.0	68.0	68.0					4																	186545479		2203	4300	6503	SO:0001819	synonymous_variant	8470					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chr4:186545479G>A		CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"""Arg/Abl interacting protein"""					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.1092C>T	4.37:g.186545479G>A						SORBS2_uc003iyh.2_Intron|SORBS2_uc011ckw.1_Intron|SORBS2_uc003iyi.2_Intron|SORBS2_uc011ckx.1_Intron|SORBS2_uc003iyk.2_Intron|SORBS2_uc003iym.2_Silent_p.N464N|SORBS2_uc003iyn.1_Intron|SORBS2_uc011cku.1_Intron|SORBS2_uc011ckv.1_Silent_p.N268N|SORBS2_uc003iyd.2_Intron|SORBS2_uc003iye.2_Intron|SORBS2_uc003iya.2_Intron|SORBS2_uc003iyb.2_Intron|SORBS2_uc003iyc.2_Intron|SORBS2_uc003iyg.2_Silent_p.N478N|SORBS2_uc003iyf.2_Intron|SORBS2_uc003iyo.1_Intron	p.N364N	NM_021069	NP_066547	O94875	SRBS2_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)	13	1950	-		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)	364					A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Silent	SNP	ENST00000284776.7	37	c.1092C>T	CCDS3845.1																																																																																				0.517	SORBS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347944.3		NM_003603		3	55	0	0	0	0.009096	0	3	55		
SLC9A3	6550	broad.mit.edu	37	5	482184	482184	+	Splice_Site	SNP	C	C	T			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr5:482184C>T	ENST00000264938.3	-	8	1454	c.1445G>A	c.(1444-1446)cGc>cAc	p.R482H	CTD-2228K2.7_ENST00000607005.1_RNA|CTD-2228K2.7_ENST00000607286.1_RNA|SLC9A3_ENST00000514375.1_Splice_Site_p.R473H|CTD-2228K2.7_ENST00000606288.1_RNA	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	482					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|sodium:proton antiporter activity (GO:0015385)			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			CGCACTTACGCGCCCGTGCAG	0.692																																						uc003jbe.2		NaN																	0					0						c.(1444-1446)CGC>CAC		solute carrier family 9 (sodium/hydrogen							21.0	21.0	21.0					5																	482184		2198	4298	6496	SO:0001630	splice_region_variant	6550					cell surface|integral to membrane	sodium:hydrogen antiporter activity	g.chr5:482184C>T		CCDS3855.1, CCDS64116.1	5p15.3	2013-05-22	2012-03-22		ENSG00000066230	ENSG00000066230		"""Solute carriers"""	11073	protein-coding gene	gene with protein product		182307	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 3"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 3"""	NHE3		8096830	Standard	NM_004174		Approved		uc003jbe.2	P48764	OTTHUMG00000090315	ENST00000264938.3:c.1446+1G>A	5.37:g.482184C>T						SLC9A3_uc011clx.1_Missense_Mutation_p.R473H	p.R482H	NM_004174	NP_004165	P48764	SL9A3_HUMAN	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)		8	1557	-			482			Cytoplasmic (Potential).		B7ZKR2|E9PF67|Q3MIW3	Missense_Mutation	SNP	ENST00000264938.3	37	c.1445G>A	CCDS3855.1	.	.	.	.	.	.	.	.	.	.	C	10.50	1.367699	0.24771	.	.	ENSG00000066230	ENST00000264938;ENST00000514375	T;T	0.57595	0.8;0.39	4.0	4.0	0.46444	.	0.280566	0.34628	N	0.003817	T	0.42291	0.1196	L	0.58354	1.805	0.37086	D	0.899204	P;B	0.39748	0.686;0.223	B;B	0.31442	0.13;0.024	T	0.53027	-0.8496	10	0.38643	T	0.18	.	9.9061	0.41377	0.0:0.903:0.0:0.097	.	473;482	E9PF67;P48764	.;SL9A3_HUMAN	H	482;473	ENSP00000264938:R482H;ENSP00000422983:R473H	ENSP00000264938:R482H	R	-	2	0	SLC9A3	535184	0.523000	0.26274	0.720000	0.30636	0.124000	0.20399	2.256000	0.43231	1.942000	0.56320	0.555000	0.69702	CGC		0.692	SLC9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206677.2		NM_004174	Missense_Mutation	3	25	0	0	0	0.014758	0	3	25		
SLC9A3	6550	broad.mit.edu	37	5	484634	484634	+	Splice_Site	SNP	C	C	T	rs144524702		TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr5:484634C>T	ENST00000264938.3	-	5	942		c.e5+1		SLC9A3_ENST00000514375.1_Splice_Site	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3						ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|sodium:proton antiporter activity (GO:0015385)			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			GAGGGACTCACGCGAGGATGG	0.642																																						uc003jbe.2		NaN																	0					0						c.e5+1		solute carrier family 9 (sodium/hydrogen		C		0,4400		0,0,2200	126.0	95.0	106.0			3.4	1.0	5	dbSNP_134	106	1,8597	1.2+/-3.3	0,1,4298	no	splice-5	SLC9A3	NM_004174.2		0,1,6498	TT,TC,CC		0.0116,0.0,0.0077			484634	1,12997	2200	4299	6499	SO:0001630	splice_region_variant	6550					cell surface|integral to membrane	sodium:hydrogen antiporter activity	g.chr5:484634C>T		CCDS3855.1, CCDS64116.1	5p15.3	2013-05-22	2012-03-22		ENSG00000066230	ENSG00000066230		"""Solute carriers"""	11073	protein-coding gene	gene with protein product		182307	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 3"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 3"""	NHE3		8096830	Standard	NM_004174		Approved		uc003jbe.2	P48764	OTTHUMG00000090315	ENST00000264938.3:c.932+1G>A	5.37:g.484634C>T						SLC9A3_uc011clx.1_Splice_Site_p.A311_splice	p.A311_splice	NM_004174	NP_004165	P48764	SL9A3_HUMAN	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)		5	1044	-								B7ZKR2|E9PF67|Q3MIW3	Splice_Site	SNP	ENST00000264938.3	37	c.932_splice	CCDS3855.1	.	.	.	.	.	.	.	.	.	.	C	16.14	3.038462	0.55003	0.0	1.16E-4	ENSG00000066230	ENST00000264938;ENST00000514375	.	.	.	4.31	3.43	0.39272	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.9606	0.58455	0.1636:0.8364:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC9A3	537634	1.000000	0.71417	0.996000	0.52242	0.513000	0.34164	7.456000	0.80751	0.769000	0.33313	0.561000	0.74099	.		0.642	SLC9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206677.2		NM_004174	Intron	17	31	0	0	0	0.010504	0	17	31		
SLC6A18	348932	broad.mit.edu	37	5	1232401	1232401	+	Silent	SNP	C	C	T			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr5:1232401C>T	ENST00000324642.3	+	2	351	c.228C>T	c.(226-228)ctC>ctT	p.L76L	SLC6A18_ENST00000296821.4_Silent_p.L76L	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	76					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			ACGTCGAGCTCGCCATCGGCC	0.667																																						uc003jby.1		NaN																	0				ovary(1)	1						c.(226-228)CTC>CTT		solute carrier family 6, member 18							41.0	41.0	41.0					5																	1232401		2203	4299	6502	SO:0001819	synonymous_variant	348932				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr5:1232401C>T	AK055798	CCDS3860.1	5p15	2013-07-19	2013-07-19		ENSG00000164363	ENSG00000164363		"""Solute carriers"""	26441	protein-coding gene	gene with protein product		610300	"""solute carrier family 6 (neurotransmitter transporter), member 18"", ""solute carrier family 6, member 18"""			19478081	Standard	NM_182632		Approved	FLJ31236, Xtrp2	uc003jby.2	Q96N87	OTTHUMG00000090356	ENST00000324642.3:c.228C>T	5.37:g.1232401C>T							p.L76L	NM_182632	NP_872438	Q96N87	S6A18_HUMAN	Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		2	351	+	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		76			Cytoplasmic (Potential).			Silent	SNP	ENST00000324642.3	37	c.228C>T	CCDS3860.1																																																																																				0.667	SLC6A18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206728.3		NM_182632		3	38	0	0	0	0.014758	0	3	38		
MAP3K1	4214	broad.mit.edu	37	5	56177590	56177590	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr5:56177590C>T	ENST00000399503.3	+	14	2563	c.2563C>T	c.(2563-2565)Cgt>Tgt	p.R855C		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	855					activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		GATGCGTCGCCGTTTGATGGC	0.478																																						uc003jqw.3		NaN																	0				ovary(1)|skin(1)	2						c.(2563-2565)CGT>TGT		mitogen-activated protein kinase kinase kinase							113.0	106.0	108.0					5																	56177590		1955	4156	6111	SO:0001583	missense	4214				cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding	g.chr5:56177590C>T	U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6848	protein-coding gene	gene with protein product		600982	"""mitogen-activated protein kinase kinase kinase 1"""	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.2563C>T	5.37:g.56177590C>T	ENSP00000382423:p.Arg855Cys						p.R855C	NM_005921	NP_005912	Q13233	M3K1_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)	14	3064	+		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)	855						Missense_Mutation	SNP	ENST00000399503.3	37	c.2563C>T	CCDS43318.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.071518	0.76301	.	.	ENSG00000095015	ENST00000399503	T	0.57273	0.41	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.71213	0.3313	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.72261	-0.4345	10	0.87932	D	0	.	19.8805	0.96895	0.0:1.0:0.0:0.0	.	855	Q13233	M3K1_HUMAN	C	855	ENSP00000382423:R855C	ENSP00000382423:R855C	R	+	1	0	MAP3K1	56213347	1.000000	0.71417	0.866000	0.34008	0.987000	0.75469	6.431000	0.73395	2.778000	0.95560	0.655000	0.94253	CGT		0.478	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132309.2		XM_042066		8	80	0	0	0	0.010729	0	8	80		
MEGF10	84466	broad.mit.edu	37	5	126781188	126781188	+	Missense_Mutation	SNP	G	G	T	rs138372925		TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr5:126781188G>T	ENST00000274473.6	+	21	2798	c.2531G>T	c.(2530-2532)cGa>cTa	p.R844L	MEGF10_ENST00000510828.1_Intron|MEGF10_ENST00000503335.2_Missense_Mutation_p.R844L	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	844	Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				homotypic cell-cell adhesion (GO:0034109)|muscle cell development (GO:0055001)|recognition of apoptotic cell (GO:0043654)|regulation of muscle cell differentiation (GO:0051147)|regulation of skeletal muscle tissue development (GO:0048641)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell differentiation (GO:0014816)|skeletal muscle satellite cell proliferation (GO:0014841)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		AGCTTAAGCCGAACCAGTACT	0.438																																						uc003kuh.3		NaN																	0				ovary(4)	4						c.(2530-2532)CGA>CTA		multiple EGF-like-domains 10 precursor							160.0	153.0	156.0					5																	126781188		2203	4300	6503	SO:0001583	missense	84466				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup		g.chr5:126781188G>T	AK021631	CCDS4142.1	5q33	2008-02-05			ENSG00000145794	ENSG00000145794			29634	protein-coding gene	gene with protein product		612453				11347906	Standard	NM_032446		Approved	KIAA1780	uc003kui.4	Q96KG7	OTTHUMG00000128984	ENST00000274473.6:c.2531G>T	5.37:g.126781188G>T	ENSP00000274473:p.Arg844Leu					MEGF10_uc003kui.3_Missense_Mutation_p.R844L	p.R844L	NM_032446	NP_115822	Q96KG7	MEG10_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)	21	2893	+		Prostate(80;0.165)	844			Extracellular (Potential).|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.		Q68DE5|Q8WUL3	Missense_Mutation	SNP	ENST00000274473.6	37	c.2531G>T	CCDS4142.1	.	.	.	.	.	.	.	.	.	.	G	15.61	2.884833	0.51908	.	.	ENSG00000145794	ENST00000503335;ENST00000274473	T;T	0.53640	0.61;0.61	5.68	4.8	0.61643	.	0.129752	0.34314	N	0.004080	T	0.41903	0.1179	L	0.47716	1.5	0.39770	D	0.972157	B	0.27286	0.174	B	0.24155	0.051	T	0.36261	-0.9755	10	0.39692	T	0.17	-14.8769	14.9152	0.70792	0.0699:0.0:0.9301:0.0	.	844	Q96KG7	MEG10_HUMAN	L	844	ENSP00000423354:R844L;ENSP00000274473:R844L	ENSP00000274473:R844L	R	+	2	0	MEGF10	126809087	1.000000	0.71417	0.997000	0.53966	0.761000	0.43186	4.733000	0.62036	2.681000	0.91329	0.563000	0.77884	CGA		0.438	MEGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250973.2		NM_032446		39	45	1	0	1.51926e-22	0.01441	1.68024e-22	39	45		
KDM3B	51780	broad.mit.edu	37	5	137761242	137761242	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr5:137761242A>G	ENST00000314358.5	+	17	4582	c.4382A>G	c.(4381-4383)gAt>gGt	p.D1461G	KDM3B_ENST00000394866.1_Missense_Mutation_p.D1117G|KDM3B_ENST00000542866.1_Missense_Mutation_p.D493G	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	1461					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						AAAGTTCGGGATTTCTGGGAT	0.453																																						uc003lcy.1		NaN																	0				ovary(3)|upper_aerodigestive_tract(2)|lung(2)|kidney(2)|central_nervous_system(1)|skin(1)	11						c.(4381-4383)GAT>GGT		jumonji domain containing 1B							159.0	159.0	159.0					5																	137761242		2203	4300	6503	SO:0001583	missense	51780				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr5:137761242A>G	AF251039	CCDS34242.1	5q31	2011-07-01	2009-04-06	2009-04-06	ENSG00000120733	ENSG00000120733		"""Chromatin-modifying enzymes / K-demethylases"""	1337	protein-coding gene	gene with protein product		609373	"""chromosome 5 open reading frame 7"", ""jumonji domain containing 1B"""	C5orf7, JMJD1B		15138608	Standard	NM_016604		Approved	KIAA1082, NET22	uc003lcy.1	Q7LBC6	OTTHUMG00000163469	ENST00000314358.5:c.4382A>G	5.37:g.137761242A>G	ENSP00000326563:p.Asp1461Gly					KDM3B_uc010jew.1_Missense_Mutation_p.D1117G|KDM3B_uc011cys.1_Missense_Mutation_p.D493G	p.D1461G	NM_016604	NP_057688	Q7LBC6	KDM3B_HUMAN			17	4582	+			1461					A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Missense_Mutation	SNP	ENST00000314358.5	37	c.4382A>G	CCDS34242.1	.	.	.	.	.	.	.	.	.	.	A	26.2	4.714893	0.89112	.	.	ENSG00000120733	ENST00000314358;ENST00000545151;ENST00000394866;ENST00000542866	T;T;T	0.72394	-0.65;-0.65;-0.65	5.17	5.17	0.71159	.	0.094720	0.64402	D	0.000001	T	0.80232	0.4585	L	0.60455	1.87	0.80722	D	1	D;P	0.64830	0.994;0.903	D;P	0.63703	0.917;0.593	T	0.82259	-0.0546	10	0.66056	D	0.02	-26.9961	15.0144	0.71573	1.0:0.0:0.0:0.0	.	1117;1461	Q7LBC6-2;Q7LBC6	.;KDM3B_HUMAN	G	1461;1251;1117;493	ENSP00000326563:D1461G;ENSP00000378335:D1117G;ENSP00000439462:D493G	ENSP00000326563:D1461G	D	+	2	0	KDM3B	137789141	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.339000	0.96797	1.947000	0.56498	0.460000	0.39030	GAT		0.453	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373597.1		NM_016604		51	43	0	0	0	0.01441	0	51	43		
PCDHGA2	56113	broad.mit.edu	37	5	140719540	140719540	+	Silent	SNP	C	C	T	rs149528645		TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr5:140719540C>T	ENST00000394576.2	+	1	1002	c.1002C>T	c.(1000-1002)atC>atT	p.I334I	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	334	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGAAGGTTATCGTCACGGTTC	0.428																																						uc003ljk.1		NaN																	0				skin(2)|ovary(1)	3						c.(1000-1002)ATC>ATT		protocadherin gamma subfamily A, 2 isoform 1							142.0	146.0	145.0					5																	140719540		2203	4300	6503	SO:0001819	synonymous_variant	56113				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140719540C>T	AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"""Cadherins / Protocadherins : Clustered"""	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.1002C>T	5.37:g.140719540C>T						PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc011dao.1_Silent_p.I334I	p.I334I	NM_018915	NP_061738	Q9Y5H1	PCDG2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1187	+			334			Cadherin 3.|Extracellular (Potential).		Q52LL6|Q9Y5D5	Silent	SNP	ENST00000394576.2	37	c.1002C>T	CCDS47289.1																																																																																				0.428	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1		NM_018915		41	135	0	0	0	0.013114	0	41	135		
PCDHGB1	56104	broad.mit.edu	37	5	140730581	140730581	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr5:140730581G>A	ENST00000523390.1	+	1	754	c.754G>A	c.(754-756)Gta>Ata	p.V252I	PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1	252	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAAGAAAACGTACCGTGGGG	0.522																																						uc003ljo.1		NaN																	0					0						c.(754-756)GTA>ATA		protocadherin gamma subfamily B, 1 isoform 1							93.0	99.0	97.0					5																	140730581		2025	4185	6210	SO:0001583	missense	56104				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140730581G>A	AF152517	CCDS54923.1, CCDS75330.1	5q31	2010-01-26				ENSG00000254221		"""Cadherins / Protocadherins : Clustered"""	8708	other	protocadherin	"""protocadherin gamma subfamily B, 1, isoform 2"""	606299				10380929	Standard	NM_018922		Approved	PCDH-GAMMA-B1		Q9Y5G3		ENST00000523390.1:c.754G>A	5.37:g.140730581G>A	ENSP00000429273:p.Val252Ile					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc011daq.1_Missense_Mutation_p.V252I	p.V252I	NM_018922	NP_061745	Q9Y5G3	PCDGD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	754	+			252			Extracellular (Potential).|Cadherin 3.		Q3SY75|Q9Y5C8	Missense_Mutation	SNP	ENST00000523390.1	37	c.754G>A	CCDS54923.1	.	.	.	.	.	.	.	.	.	.	.	5.120	0.207764	0.09704	.	.	ENSG00000254221	ENST00000523390	T	0.52057	0.68	5.58	-1.09	0.09904	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.29524	0.0736	L	0.36672	1.1	0.09310	N	1	B;B	0.25351	0.102;0.124	B;B	0.24269	0.021;0.052	T	0.22347	-1.0219	9	0.32370	T	0.25	.	1.4129	0.02295	0.4027:0.1052:0.313:0.179	.	252;252	Q9Y5G3-2;Q9Y5G3	.;PCDGD_HUMAN	I	252	ENSP00000429273:V252I	ENSP00000429273:V252I	V	+	1	0	PCDHGB1	140710765	0.000000	0.05858	0.628000	0.29241	0.486000	0.33341	-2.299000	0.01139	0.081000	0.16988	0.563000	0.77884	GTA		0.522	PCDHGB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374740.1		NM_018922		17	66	0	0	0	0.007413	0	17	66		
PCDHGA8	9708	broad.mit.edu	37	5	140774130	140774130	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr5:140774130C>T	ENST00000398604.2	+	1	1750	c.1750C>T	c.(1750-1752)Cgt>Tgt	p.R584C	PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_032088.1	NP_114477.1	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8	584	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCCGCAGAGCGTGGCTACCT	0.672																																						uc003lkd.1		NaN																	0					0						c.(1750-1752)CGT>TGT		protocadherin gamma subfamily A, 8 isoform 1							73.0	85.0	81.0					5																	140774130		2202	4299	6501	SO:0001583	missense	9708				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140774130C>T	AF152515	CCDS47291.1, CCDS75338.1	5q31	2010-01-26			ENSG00000253767	ENSG00000253767		"""Cadherins / Protocadherins : Clustered"""	8706	other	protocadherin		606295				10380929	Standard	NM_014004		Approved	KIAA0327, PCDH-GAMMA-A8		Q9Y5G5	OTTHUMG00000164053	ENST00000398604.2:c.1750C>T	5.37:g.140774130C>T	ENSP00000381605:p.Arg584Cys					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkb.3_Missense_Mutation_p.R584C	p.R584C	NM_032088	NP_114477	Q9Y5G5	PCDG8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2648	+			584			Extracellular (Potential).|Cadherin 6.		A7MCZ4|O15039	Missense_Mutation	SNP	ENST00000398604.2	37	c.1750C>T	CCDS47291.1	.	.	.	.	.	.	.	.	.	.	.	10.87	1.472955	0.26423	.	.	ENSG00000253767	ENST00000398604	T	0.15718	2.4	5.06	4.19	0.49359	Cadherin (3);Cadherin-like (1);	0.000000	0.31199	U	0.008076	T	0.13030	0.0316	L	0.41079	1.255	0.26632	N	0.972453	P;P	0.47962	0.903;0.899	B;B	0.32928	0.155;0.085	T	0.07520	-1.0768	10	0.72032	D	0.01	.	14.4951	0.67680	0.0:0.852:0.148:0.0	.	584;584	Q9Y5G5;Q9Y5G5-2	PCDG8_HUMAN;.	C	584	ENSP00000381605:R584C	ENSP00000381605:R584C	R	+	1	0	PCDHGA8	140754314	0.000000	0.05858	0.047000	0.18901	0.530000	0.34684	1.011000	0.29911	1.126000	0.42016	0.655000	0.94253	CGT		0.672	PCDHGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376972.1		NM_032088		47	146	0	0	0	0.01441	0	47	146		
KIAA0319	9856	broad.mit.edu	37	6	24596319	24596319	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr6:24596319A>G	ENST00000378214.3	-	3	1107	c.583T>C	c.(583-585)Ttc>Ctc	p.F195L	KIAA0319_ENST00000537886.1_Missense_Mutation_p.F195L|KIAA0319_ENST00000535378.1_Missense_Mutation_p.F186L|KIAA0319_ENST00000543707.1_Missense_Mutation_p.F195L|KIAA0319_ENST00000430948.2_Missense_Mutation_p.F150L	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN	KIAA0319	195					negative regulation of dendrite development (GO:2000171)|neuron migration (GO:0001764)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						GAGGAGTTGAAGGCCCCCTCG	0.632																																						uc011djo.1		NaN																	0				ovary(1)|skin(1)	2						c.(583-585)TTC>CTC		KIAA0319 precursor							37.0	36.0	36.0					6																	24596319		2203	4300	6503	SO:0001583	missense	9856				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding	g.chr6:24596319A>G	AB002317	CCDS34348.1, CCDS54969.1, CCDS54970.1, CCDS54971.1, CCDS75409.1	6p22.3	2013-12-13			ENSG00000137261	ENSG00000137261			21580	protein-coding gene	gene with protein product	"""neuronal migration"""	609269				9205841, 15514892	Standard	NM_014809		Approved	NMIG	uc003neh.1	Q5VV43	OTTHUMG00000014358	ENST00000378214.3:c.583T>C	6.37:g.24596319A>G	ENSP00000367459:p.Phe195Leu					KIAA0319_uc011djp.1_Missense_Mutation_p.F150L|KIAA0319_uc003neh.1_Missense_Mutation_p.F195L|KIAA0319_uc011djq.1_Missense_Mutation_p.F186L|KIAA0319_uc011djr.1_Missense_Mutation_p.F195L	p.F195L	NM_014809	NP_055624	Q5VV43	K0319_HUMAN			3	820	-			195			Extracellular (Potential).		A7MD37|B2RTU7|B4DHA7|B4DK75|B7ZML3|F5H123|Q9UJC8|Q9Y4G7	Missense_Mutation	SNP	ENST00000378214.3	37	c.583T>C	CCDS34348.1	.	.	.	.	.	.	.	.	.	.	A	12.85	2.061118	0.36373	.	.	ENSG00000137261	ENST00000537886;ENST00000535378;ENST00000430948;ENST00000378214;ENST00000543707	T;T;T;T;T	0.06687	3.27;3.28;3.28;3.28;3.28	4.33	-1.28	0.09318	.	0.512181	0.17921	N	0.157485	T	0.01353	0.0044	L	0.32530	0.975	0.09310	N	1	B;B;B	0.09022	0.002;0.002;0.001	B;B;B	0.09377	0.004;0.003;0.002	T	0.46721	-0.9171	10	0.21540	T	0.41	-0.4295	3.4811	0.07602	0.4243:0.0:0.1699:0.4058	.	195;186;195	F5H123;Q5VV43-2;Q5VV43	.;.;K0319_HUMAN	L	195;186;150;195;195	ENSP00000439700:F195L;ENSP00000442403:F186L;ENSP00000401086:F150L;ENSP00000367459:F195L;ENSP00000437656:F195L	ENSP00000367459:F195L	F	-	1	0	KIAA0319	24704298	0.022000	0.18835	0.014000	0.15608	0.567000	0.35839	0.176000	0.16782	-0.242000	0.09667	0.496000	0.49642	TTC		0.632	KIAA0319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040009.1		NM_014809		13	23	0	0	0	0.006122	0	13	23		
HIST1H1E	3008	broad.mit.edu	37	6	26156830	26156830	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr6:26156830A>G	ENST00000304218.3	+	1	272	c.212A>G	c.(211-213)tAt>tGt	p.Y71C	HIST1H2BD_ENST00000289316.2_5'Flank|HIST1H2BD_ENST00000377777.4_5'Flank	NM_005321.2	NP_005312.1	P10412	H14_HUMAN	histone cluster 1, H1e	71	H15. {ECO:0000255|PROSITE- ProRule:PRU00837}.				nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						GCCGCTGGCTATGACGTGGAG	0.627																																						uc003ngq.2		NaN																	0				large_intestine(1)|ovary(1)	2						c.(211-213)TAT>TGT		histone cluster 1, H1e							40.0	43.0	42.0					6																	26156830		2203	4300	6503	SO:0001583	missense	3008				nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26156830A>G	M60748	CCDS4586.1	6p22.1	2012-05-04	2006-10-11	2003-02-21	ENSG00000168298	ENSG00000168298		"""Histones / Replication-dependent"""	4718	protein-coding gene	gene with protein product		142220	"""H1 histone family, member 4"", ""histone 1, H1e"""	H1F4		1916825, 12408966	Standard	NM_005321		Approved	H1.4, H1e, H1s-4	uc003ngq.3	P10412	OTTHUMG00000014422	ENST00000304218.3:c.212A>G	6.37:g.26156830A>G	ENSP00000307705:p.Tyr71Cys					HIST1H2BD_uc003ngr.2_5'Flank|HIST1H2BD_uc003ngs.2_5'Flank	p.Y71C	NM_005321	NP_005312	P10412	H14_HUMAN			1	272	+			71			H15.		Q4VB25	Missense_Mutation	SNP	ENST00000304218.3	37	c.212A>G	CCDS4586.1	.	.	.	.	.	.	.	.	.	.	.	22.4	4.280225	0.80692	.	.	ENSG00000168298	ENST00000304218	T	0.34859	1.34	5.09	5.09	0.68999	Histone H1/H5 (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.48466	0.1501	M	0.80847	2.515	0.80722	D	1	P	0.50272	0.933	P	0.61132	0.884	T	0.48502	-0.9030	10	0.33940	T	0.23	-0.9708	14.3235	0.66502	1.0:0.0:0.0:0.0	.	71	P10412	H14_HUMAN	C	71	ENSP00000307705:Y71C	ENSP00000307705:Y71C	Y	+	2	0	HIST1H1E	26264809	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.015000	0.64035	2.029000	0.59856	0.459000	0.35465	TAT		0.627	HIST1H1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040084.1		NM_005321		15	30	0	0	0	0.006122	0	15	30		
MUC21	394263	broad.mit.edu	37	6	30954151	30954151	+	Missense_Mutation	SNP	G	G	A	rs368730323		TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr6:30954151G>A	ENST00000376296.3	+	2	440	c.199G>A	c.(199-201)Gtg>Atg	p.V67M	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	67	28 X 15 AA approximate tandem repeats.|Ser-rich.				cellular protein metabolic process (GO:0044267)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-substrate adhesion (GO:0010812)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						AGGGTCCAGCGTGACCTCCAA	0.572																																						uc003nsh.2		NaN																	0				ovary(1)|skin(1)	2						c.(199-201)GTG>ATG		mucin 21 precursor		G	MET/VAL	0,4406		0,0,2203	182.0	157.0	166.0		199	-2.0	0.0	6		166	1,8599	1.2+/-3.3	0,1,4299	no	missense	MUC21	NM_001010909.2	21	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	67/567	30954151	1,13005	2203	4300	6503	SO:0001583	missense	394263					integral to membrane|plasma membrane		g.chr6:30954151G>A	AK056612	CCDS34388.1	6p21.33	2008-05-14	2008-05-14	2008-05-14	ENSG00000204544	ENSG00000204544		"""Mucins"""	21661	protein-coding gene	gene with protein product	"""epiglycanin"""		"""chromosome 6 open reading frame 205"""	C6orf205		17977904	Standard	NM_001010909		Approved	bCX31G15.2	uc003nsh.2	Q5SSG8	OTTHUMG00000031216	ENST00000376296.3:c.199G>A	6.37:g.30954151G>A	ENSP00000365473:p.Val67Met					MUC21_uc003nsi.1_RNA	p.V67M	NM_001010909	NP_001010909	Q5SSG8	MUC21_HUMAN			2	450	+			67			Ser-rich.|3.|28 X 15 AA approximate tandem repeats.|Extracellular (Potential).		B0UZT7|B4DQ55|C9JMK2|D9N007|Q0VGF1|Q3B7T2|Q5SS94|Q6UXC5	Missense_Mutation	SNP	ENST00000376296.3	37	c.199G>A	CCDS34388.1	.	.	.	.	.	.	.	.	.	.	G	7.334	0.619576	0.14193	0.0	1.16E-4	ENSG00000204544	ENST00000450707;ENST00000376296	T	0.02323	4.34	3.06	-2.04	0.07343	.	.	.	.	.	T	0.00580	0.0019	N	0.24115	0.695	0.09310	N	1	B	0.29115	0.233	B	0.14578	0.011	T	0.45264	-0.9273	9	0.38643	T	0.18	8.7269	5.6328	0.17520	0.2276:0.2556:0.5169:0.0	.	67	Q5SSG8	MUC21_HUMAN	M	67	ENSP00000365473:V67M	ENSP00000365473:V67M	V	+	1	0	MUC21	31062130	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.344000	0.00249	-0.310000	0.08766	-0.811000	0.03165	GTG		0.572	MUC21-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000128579.3		NM_001010909		68	180	0	0	0	0.01441	0	68	180		
RNF5	6048	broad.mit.edu	37	6	32146400	32146400	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr6:32146400G>T	ENST00000375094.3	+	1	270	c.112G>T	c.(112-114)Gtg>Ttg	p.V38L	RNF5_ENST00000427134.2_Missense_Mutation_p.V38L|AGPAT1_ENST00000375107.3_5'Flank|AGPAT1_ENST00000395497.1_5'Flank|RNF5_ENST00000487940.1_3'UTR|AGPAT1_ENST00000336984.6_5'Flank|AGPAT1_ENST00000490711.1_5'Flank|AGPAT1_ENST00000375104.2_5'Flank|AGPAT1_ENST00000395499.1_5'Flank|AGPAT1_ENST00000412465.2_5'Flank	NM_006913.3	NP_008844.1	Q99942	RNF5_HUMAN	ring finger protein 5, E3 ubiquitin protein ligase	38					cellular protein catabolic process (GO:0044257)|ER-associated misfolded protein catabolic process (GO:0071712)|negative regulation of autophagy (GO:0010507)|protein destabilization (GO:0031648)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|regulation of autophagic vacuole assembly (GO:2000785)|response to bacterium (GO:0009617)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|lung(7)|urinary_tract(2)	10						TCGGGAAGCTGTGGTCAGTGT	0.612																																						uc003oaj.3		NaN																	0					0						c.(112-114)GTG>TTG		ring finger protein 5							69.0	84.0	79.0					6																	32146400		1509	2708	4217	SO:0001583	missense	6048				ER-associated misfolded protein catabolic process|protein K48-linked ubiquitination|protein K63-linked ubiquitination	endoplasmic reticulum membrane|integral to membrane|mitochondrial membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:32146400G>T	U89336	CCDS4745.1	6p21.31	2013-01-09	2012-02-23			ENSG00000204308		"""RING-type (C3HC4) zinc fingers"""	10068	protein-coding gene	gene with protein product		602677	"""ring finger protein 5"""			9533025	Standard	NM_006913		Approved	NG2, G16, RING5, RMA1	uc031snv.1	Q99942	OTTHUMG00000031093	ENST00000375094.3:c.112G>T	6.37:g.32146400G>T	ENSP00000364235:p.Val38Leu					AGPAT1_uc003oae.2_5'Flank|AGPAT1_uc011dpk.1_5'Flank|AGPAT1_uc003oaf.2_5'Flank|AGPAT1_uc003oag.2_5'Flank|AGPAT1_uc003oah.2_5'Flank|AGPAT1_uc003oai.1_5'Flank|AGPAT1_uc011dpl.1_5'Flank	p.V38L	NM_006913	NP_008844	Q99942	RNF5_HUMAN			1	239	+			38			RING-type.		A2BFI6|B2R4K3|Q0VDB7|Q9UMQ2	Missense_Mutation	SNP	ENST00000375094.3	37	c.112G>T	CCDS4745.1	.	.	.	.	.	.	.	.	.	.	G	34	5.299232	0.95574	.	.	ENSG00000204308	ENST00000375094;ENST00000427134	D;D	0.86030	-2.06;-2.06	4.54	4.54	0.55810	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.157095	0.40064	N	0.001200	D	0.91150	0.7213	M	0.81341	2.54	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92148	0.5726	10	0.87932	D	0	.	15.1505	0.72692	0.0:0.0:1.0:0.0	.	38	Q99942	RNF5_HUMAN	L	38	ENSP00000364235:V38L;ENSP00000407656:V38L	ENSP00000364235:V38L	V	+	1	0	RNF5	32254378	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.781000	0.85668	2.495000	0.84180	0.563000	0.77884	GTG		0.612	RNF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076133.2		NM_006913		29	97	1	0	1.57019e-19	0.007835	1.71387e-19	29	97		
B3GALT4	8705	broad.mit.edu	37	6	33245984	33245984	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr6:33245984C>A	ENST00000451237.1	+	1	1068	c.788C>A	c.(787-789)tCa>tAa	p.S263*		NM_003782.3	NP_003773.1	O96024	B3GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4	263					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	ganglioside galactosyltransferase activity (GO:0047915)|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	13						CCCTATGCCTCAGGCACGGGG	0.637																																						uc003odr.2		NaN																	0				ovary(1)|breast(1)	2						c.(787-789)TCA>TAA		UDP-Gal:betaGlcNAc beta							42.0	45.0	44.0					6																	33245984		2203	4299	6502	SO:0001587	stop_gained	8705				protein glycosylation	Golgi membrane|integral to membrane	ganglioside galactosyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	g.chr6:33245984C>A	Y15061	CCDS34425.1	6p21.3	2013-02-19			ENSG00000235863	ENSG00000235863		"""Beta 3-glycosyltransferases"""	919	protein-coding gene	gene with protein product		603095				9582303	Standard	NM_003782		Approved	beta3Gal-T4, GalT4	uc003odr.3	O96024	OTTHUMG00000031100	ENST00000451237.1:c.788C>A	6.37:g.33245984C>A	ENSP00000390784:p.Ser263*						p.S263*	NM_003782	NP_003773	O96024	B3GT4_HUMAN			1	1068	+			263			Lumenal (Potential).			Nonsense_Mutation	SNP	ENST00000451237.1	37	c.788C>A	CCDS34425.1	.	.	.	.	.	.	.	.	.	.	C	36	5.732704	0.96856	.	.	ENSG00000235863	ENST00000451237	.	.	.	4.49	4.49	0.54785	.	0.172511	0.33854	N	0.004481	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.5611	0.45146	0.0:0.8042:0.1958:0.0	.	.	.	.	X	263	.	ENSP00000390784:S263X	S	+	2	0	B3GALT4	33353962	1.000000	0.71417	0.934000	0.37439	0.494000	0.33585	2.780000	0.47742	2.334000	0.79466	0.643000	0.83706	TCA		0.637	B3GALT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076162.2				30	39	1	0	2.47511e-08	0.008361	2.66673e-08	30	39		
LEMD2	221496	broad.mit.edu	37	6	33740447	33740447	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr6:33740447C>G	ENST00000293760.5	-	9	1489	c.1470G>C	c.(1468-1470)tgG>tgC	p.W490C	LEMD2_ENST00000508327.1_Missense_Mutation_p.W188C	NM_181336.3	NP_851853.1	Q8NC56	LEMD2_HUMAN	LEM domain containing 2	490					negative regulation of MAPK cascade (GO:0043409)|skeletal muscle cell differentiation (GO:0035914)	integral component of nuclear inner membrane (GO:0005639)|membrane (GO:0016020)|nuclear membrane (GO:0031965)				central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)|pancreas(1)	9						TAGTCCATCTCCACACCAGCA	0.622																																						uc011drm.1		NaN																	0				central_nervous_system(1)	1						c.(1468-1470)TGG>TGC		LEM domain containing 2 isoform 1							82.0	64.0	70.0					6																	33740447		2203	4300	6503	SO:0001583	missense	221496					integral to nuclear inner membrane		g.chr6:33740447C>G		CCDS4785.1, CCDS47411.1	6p21.31	2009-11-06			ENSG00000161904	ENSG00000161904			21244	protein-coding gene	gene with protein product						12477932	Standard	NM_001143944		Approved	dJ482C21.1, NET25	uc011drm.2	Q8NC56	OTTHUMG00000014535	ENST00000293760.5:c.1470G>C	6.37:g.33740447C>G	ENSP00000293760:p.Trp490Cys					LEMD2_uc010jvg.2_Missense_Mutation_p.W199C|LEMD2_uc011drl.1_Missense_Mutation_p.W188C|LEMD2_uc003ofe.2_Missense_Mutation_p.W188C	p.W490C	NM_181336	NP_851853	Q8NC56	LEMD2_HUMAN			9	1483	-			490					B4DVH5|E7EVT2|Q5T972|Q5T974	Missense_Mutation	SNP	ENST00000293760.5	37	c.1470G>C	CCDS4785.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.543270	0.86022	.	.	ENSG00000161904	ENST00000506578;ENST00000293760;ENST00000508327	.	.	.	5.35	5.35	0.76521	Inner nuclear membrane protein MAN1 (1);	0.218022	0.33327	N	0.005021	T	0.76730	0.4028	M	0.76170	2.325	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.79548	-0.1758	9	0.87932	D	0	-6.6156	19.064	0.93103	0.0:1.0:0.0:0.0	.	490;451	Q8NC56;A8MS91	LEMD2_HUMAN;.	C	72;490;188	.	ENSP00000293760:W490C	W	-	3	0	LEMD2	33848425	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.876000	0.75556	2.477000	0.83638	0.563000	0.77884	TGG		0.622	LEMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040209.3		XM_166338		35	37	0	0	0	0.027894	0	35	37		
FAM135A	57579	broad.mit.edu	37	6	71234834	71234834	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr6:71234834C>T	ENST00000418814.2	+	15	2661	c.2047C>T	c.(2047-2049)Cga>Tga	p.R683*	FAM135A_ENST00000361499.3_Nonsense_Mutation_p.R487*|FAM135A_ENST00000457062.2_Nonsense_Mutation_p.R470*|FAM135A_ENST00000505769.1_Nonsense_Mutation_p.R487*|FAM135A_ENST00000505868.1_Nonsense_Mutation_p.R683*|FAM135A_ENST00000370479.3_Nonsense_Mutation_p.R470*	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	683										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						GACAGAGCTTCGACAAGAGGA	0.353																																						uc003pfj.2		NaN																	0				central_nervous_system(1)	1						c.(2047-2049)CGA>TGA		hypothetical protein LOC57579 isoform c							68.0	75.0	73.0					6																	71234834		2203	4300	6503	SO:0001587	stop_gained	57579							g.chr6:71234834C>T	AK000183	CCDS34481.1, CCDS47448.1, CCDS55028.1	6q13	2008-10-30	2007-05-11	2007-05-11	ENSG00000082269	ENSG00000082269			21084	protein-coding gene	gene with protein product			"""KIAA1411"""	KIAA1411		10718198	Standard	NM_001105531		Approved	FLJ20176	uc003pfj.3	Q9P2D6	OTTHUMG00000014991	ENST00000418814.2:c.2047C>T	6.37:g.71234834C>T	ENSP00000410768:p.Arg683*					FAM135A_uc003pfi.2_Nonsense_Mutation_p.R487*|FAM135A_uc003pfh.2_Nonsense_Mutation_p.R470*|FAM135A_uc003pfl.2_Nonsense_Mutation_p.R350*|FAM135A_uc003pfn.2_Nonsense_Mutation_p.R113*|FAM135A_uc003pfo.1_Nonsense_Mutation_p.R54*	p.R683*	NM_001162529	NP_001156001	Q9P2D6	F135A_HUMAN			13	2180	+			683					A2RRQ5|Q3C0H3|Q5JXK0|Q5JXK1|Q68DW0|Q6P081|Q9H0F2|Q9NU48|Q9NUQ5|Q9NXL5	Nonsense_Mutation	SNP	ENST00000418814.2	37	c.2047C>T	CCDS55028.1	.	.	.	.	.	.	.	.	.	.	C	34	5.321087	0.95682	.	.	ENSG00000082269	ENST00000418814;ENST00000370479;ENST00000505769;ENST00000457062;ENST00000361499;ENST00000505868	.	.	.	6.07	6.07	0.98685	.	1.108910	0.06534	N	0.741930	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	.	10.8974	0.47031	0.0:0.8615:0.0:0.1385	.	.	.	.	X	683;470;487;470;487;683	.	ENSP00000354913:R487X	R	+	1	2	FAM135A	71291555	0.000000	0.05858	0.791000	0.31998	0.975000	0.68041	1.219000	0.32479	2.885000	0.99019	0.655000	0.94253	CGA		0.353	FAM135A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041137.2		NM_020819		34	42	0	0	0	0.023175	0	34	42		
LAMA2	3908	broad.mit.edu	37	6	129380937	129380937	+	Missense_Mutation	SNP	C	C	T	rs140199131		TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr6:129380937C>T	ENST00000421865.2	+	3	341	c.292C>T	c.(292-294)Ccg>Tcg	p.P98S		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	98	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		AGAGAGACACCCGATTACAAA	0.328																																						uc003qbn.2		NaN																	0				ovary(8)|breast(1)|skin(1)	10						c.(292-294)CCG>TCG		laminin alpha 2 subunit isoform a precursor							97.0	90.0	92.0					6																	129380937		2203	4300	6503	SO:0001583	missense	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129380937C>T	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.292C>T	6.37:g.129380937C>T	ENSP00000400365:p.Pro98Ser					LAMA2_uc003qbo.2_Missense_Mutation_p.P98S	p.P98S	NM_000426	NP_000417	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	3	397	+			98			Laminin N-terminal.		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.292C>T	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.147744	0.77888	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.76578	-1.03	5.6	4.74	0.60224	Laminin, N-terminal (3);	0.000000	0.85682	D	0.000000	D	0.84397	0.5463	M	0.75150	2.29	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.87173	0.2222	10	0.87932	D	0	.	14.5351	0.67955	0.0:0.9295:0.0:0.0705	.	98;98	A6NF00;P24043	.;LAMA2_HUMAN	S	98	ENSP00000400365:P98S	ENSP00000346769:P98S	P	+	1	0	LAMA2	129422630	1.000000	0.71417	0.995000	0.50966	0.881000	0.50899	7.392000	0.79840	1.398000	0.46701	0.580000	0.79431	CCG		0.328	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1				9	44	0	0	0	0.004482	0	9	44		
ALDH8A1	64577	broad.mit.edu	37	6	135263702	135263702	+	Splice_Site	SNP	C	C	T			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr6:135263702C>T	ENST00000265605.2	-	3	355	c.287G>A	c.(286-288)gGg>gAg	p.G96E	ALDH8A1_ENST00000367845.2_Splice_Site_p.G96E|ALDH8A1_ENST00000367847.2_Splice_Site_p.G96E|RP11-349J5.2_ENST00000416448.2_RNA	NM_022568.3	NP_072090.1	Q9H2A2	AL8A1_HUMAN	aldehyde dehydrogenase 8 family, member A1	96					9-cis-retinoic acid biosynthetic process (GO:0042904)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	retinal dehydrogenase activity (GO:0001758)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	36	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)		TAAGGTTTTCCCTGTAAGAAG	0.522																																						uc003qew.2		NaN																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(286-288)GGG>GAG		aldehyde dehydrogenase 8A1 isoform 1							88.0	86.0	87.0					6																	135263702		2203	4300	6503	SO:0001630	splice_region_variant	64577				retinal metabolic process	cytoplasm	retinal dehydrogenase activity	g.chr6:135263702C>T	AL021939	CCDS5171.1, CCDS5172.1, CCDS55057.1	6q24.1-q25.1	2008-07-03			ENSG00000118514	ENSG00000118514		"""Aldehyde dehydrogenases"""	15471	protein-coding gene	gene with protein product		606467				11007799	Standard	NM_001193480		Approved	ALDH12	uc003qew.3	Q9H2A2	OTTHUMG00000015623	ENST00000265605.2:c.287-1G>A	6.37:g.135263702C>T						ALDH8A1_uc003qex.2_Missense_Mutation_p.G96E|ALDH8A1_uc010kgh.2_5'UTR|ALDH8A1_uc011ecx.1_Missense_Mutation_p.G96E	p.G96E	NM_022568	NP_072090	Q9H2A2	AL8A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)	3	340	-	Colorectal(23;0.221)		96					B7Z521|O60793|Q24JS9|Q53GT3|Q5TI80	Missense_Mutation	SNP	ENST00000265605.2	37	c.287G>A	CCDS5171.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.849528	0.91277	.	.	ENSG00000118514	ENST00000265605;ENST00000367845;ENST00000367847	D;D;T	0.88664	-2.41;-2.41;0.74	5.78	5.78	0.91487	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	D	0.96716	0.8928	H	0.96833	3.89	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.97442	1.0022	10	0.87932	D	0	.	20.0203	0.97492	0.0:1.0:0.0:0.0	.	96;96;96	B7Z521;Q9H2A2-2;Q9H2A2	.;.;AL8A1_HUMAN	E	96	ENSP00000265605:G96E;ENSP00000356819:G96E;ENSP00000356821:G96E	ENSP00000265605:G96E	G	-	2	0	ALDH8A1	135305395	1.000000	0.71417	1.000000	0.80357	0.652000	0.38707	7.818000	0.86416	2.730000	0.93505	0.655000	0.94253	GGG		0.522	ALDH8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042334.2			Missense_Mutation	18	573	0	0	0	0.007413	0	18	573		
PLEKHG1	57480	broad.mit.edu	37	6	151055093	151055093	+	Silent	SNP	A	A	G			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr6:151055093A>G	ENST00000358517.2	+	2	487	c.276A>G	c.(274-276)agA>agG	p.R92R	PLEKHG1_ENST00000367328.1_Silent_p.R92R			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	92							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		CGCAGTGGAGAGTGGACTCAA	0.602																																						uc003qny.1		NaN																	0				ovary(2)	2						c.(274-276)AGA>AGG		pleckstrin homology domain containing, family G							45.0	50.0	48.0					6																	151055093		2203	4300	6503	SO:0001819	synonymous_variant	57480				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:151055093A>G	AB033035	CCDS34552.1	6q25.1	2013-01-11			ENSG00000120278	ENSG00000120278		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20884	protein-coding gene	gene with protein product						10574462	Standard	XM_005267064		Approved	KIAA1209, ARHGEF41	uc003qny.1	Q9ULL1	OTTHUMG00000015824	ENST00000358517.2:c.276A>G	6.37:g.151055093A>G						PLEKHG1_uc011eel.1_Silent_p.R132R|PLEKHG1_uc011eem.1_Silent_p.R151R|PLEKHG1_uc003qnz.2_Silent_p.R92R	p.R92R	NM_001029884	NP_001025055	Q9ULL1	PKHG1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)	3	588	+			92					Q5T1F2	Silent	SNP	ENST00000358517.2	37	c.276A>G	CCDS34552.1																																																																																				0.602	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042691.1				5	31	0	0	0	0.001984	0	5	31		
SERAC1	84947	broad.mit.edu	37	6	158564168	158564168	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr6:158564168G>A	ENST00000367104.3	-	8	789	c.658C>T	c.(658-660)Caa>Taa	p.Q220*	SERAC1_ENST00000367102.2_Nonsense_Mutation_p.Q220*|SERAC1_ENST00000367101.1_Nonsense_Mutation_p.Q220*	NM_032861.3	NP_116250.3	Q96JX3	SRAC1_HUMAN	serine active site containing 1	220					extracellular matrix organization (GO:0030198)|GPI anchor metabolic process (GO:0006505)|intracellular protein transport (GO:0006886)|phospholipid biosynthetic process (GO:0008654)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)			endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)		AGCTCTGTTTGAGGTAAGGAA	0.388																																						uc003qrc.2		NaN																	0					0						c.(658-660)CAA>TAA		serine active site containing 1							122.0	120.0	121.0					6																	158564168		2203	4300	6503	SO:0001587	stop_gained	84947				GPI anchor metabolic process|intracellular protein transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	binding|hydrolase activity, acting on ester bonds	g.chr6:158564168G>A	BC001705	CCDS5255.1	6q25.3	2003-05-12			ENSG00000122335	ENSG00000122335			21061	protein-coding gene	gene with protein product		614725					Standard	NM_032861		Approved	FLJ14917	uc003qrc.2	Q96JX3	OTTHUMG00000015905	ENST00000367104.3:c.658C>T	6.37:g.158564168G>A	ENSP00000356071:p.Gln220*					SERAC1_uc003qrb.2_5'UTR	p.Q220*	NM_032861	NP_116250	Q96JX3	SRAC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)	8	800	-		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)	220					Q49AT1|Q5VTX3|Q6PKF3	Nonsense_Mutation	SNP	ENST00000367104.3	37	c.658C>T	CCDS5255.1	.	.	.	.	.	.	.	.	.	.	G	38	6.919657	0.97936	.	.	ENSG00000122335	ENST00000367102;ENST00000367104;ENST00000367101	.	.	.	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	-22.6378	18.7998	0.92011	0.0:0.0:1.0:0.0	.	.	.	.	X	220	.	ENSP00000356068:Q220X	Q	-	1	0	SERAC1	158484156	1.000000	0.71417	0.974000	0.42286	0.948000	0.59901	6.650000	0.74368	-0.519000	0.06444	-0.503000	0.04515	CAA		0.388	SERAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042862.1		NM_032861		27	52	0	0	0	0.015359	0	27	52		
PARK2	5071	broad.mit.edu	37	6	162864342	162864342	+	Splice_Site	SNP	C	C	T			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr6:162864342C>T	ENST00000366898.1	-	2	273	c.171G>A	c.(169-171)caG>caA	p.Q57Q	PARK2_ENST00000366897.1_Splice_Site_p.Q57Q|PARK2_ENST00000366894.1_5'UTR|PARK2_ENST00000338468.3_5'UTR|PARK2_ENST00000366896.1_Splice_Site_p.Q57Q|PARK2_ENST00000366892.1_Splice_Site_p.Q57Q	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase	57	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				adult locomotory behavior (GO:0008344)|aggresome assembly (GO:0070842)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to toxic substance (GO:0097237)|cellular response to unfolded protein (GO:0034620)|central nervous system development (GO:0007417)|dopamine metabolic process (GO:0042417)|dopamine uptake involved in synaptic transmission (GO:0051583)|learning (GO:0007612)|mitochondrion degradation (GO:0000422)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell death (GO:0060548)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of glucokinase activity (GO:0033132)|negative regulation of insulin secretion (GO:0046676)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced cell death (GO:1903202)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|norepinephrine metabolic process (GO:0042415)|positive regulation of DNA binding (GO:0043388)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial fusion (GO:0010636)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein linear polyubiquitination (GO:1902530)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor-mediated signaling pathway (GO:1903265)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K27-linked ubiquitination (GO:0044314)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of autophagy (GO:0010506)|regulation of dopamine secretion (GO:0014059)|regulation of glucose metabolic process (GO:0010906)|regulation of lipid transport (GO:0032368)|regulation of mitochondrion degradation (GO:1903146)|regulation of mitochondrion organization (GO:0010821)|regulation of neurotransmitter secretion (GO:0046928)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of synaptic vesicle transport (GO:1902803)|response to endoplasmic reticulum stress (GO:0034976)|startle response (GO:0001964)|synaptic transmission, glutamatergic (GO:0035249)|transcription, DNA-templated (GO:0006351)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Lewy body (GO:0097413)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|perinuclear region of cytoplasm (GO:0048471)|ubiquitin ligase complex (GO:0000151)	chaperone binding (GO:0051087)|cullin family protein binding (GO:0097602)|F-box domain binding (GO:1990444)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|ligase activity (GO:0016874)|PDZ domain binding (GO:0030165)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)|ubiquitin binding (GO:0043130)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease binding (GO:1990381)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		GGAGACTCACCTGCACAGTCC	0.567																																						uc003qtx.3		NaN																	0				upper_aerodigestive_tract(1)	1						c.(169-171)CAG>CAA		parkin isoform 1							109.0	94.0	99.0					6																	162864342		2203	4300	6503	SO:0001630	splice_region_variant	5071				aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:162864342C>T		CCDS5281.1, CCDS5282.1, CCDS5283.1	6q25.2-q27	2013-10-03	2013-10-03		ENSG00000185345	ENSG00000185345		"""Parkinson disease"""	8607	protein-coding gene	gene with protein product	"""E3 ubiquitin ligase"""	602544	"""Parkinson disease (autosomal recessive, juvenile) 2, parkin"", ""parkinson protein 2, E3 ubiquitin protein ligase (parkin)"""			9560156, 9570960	Standard	NM_004562		Approved	PDJ, AR-JP, parkin	uc003qtx.4	O60260	OTTHUMG00000015970	ENST00000366898.1:c.171+1G>A	6.37:g.162864342C>T						PARK2_uc010kkd.2_5'UTR|PARK2_uc003qtw.3_5'UTR|PARK2_uc003qty.3_Silent_p.Q57Q|PARK2_uc003qtz.3_Silent_p.Q57Q|PARK2_uc010kke.1_Silent_p.Q57Q	p.Q57Q	NM_004562	NP_004553	O60260	PRKN2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)	2	305	-		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)	57			Ubiquitin-like.		A3FG77|A8K975|D3JZW7|D3K2X0|Q5TFV8|Q5VVX4|Q6Q2I6|Q8NI41|Q8NI43|Q8NI44|Q8WW07	Silent	SNP	ENST00000366898.1	37	c.171G>A	CCDS5281.1																																																																																				0.567	PARK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042995.1			Silent	15	53	0	0	0	0.028581	0	15	53		
FZD9	8326	broad.mit.edu	37	7	72850005	72850005	+	Silent	SNP	C	C	T	rs372016463		TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr7:72850005C>T	ENST00000344575.3	+	1	1897	c.1668C>T	c.(1666-1668)cgC>cgT	p.R556R		NM_003508.2	NP_003499.1	O00144	FZD9_HUMAN	frizzled class receptor 9	556					B cell differentiation (GO:0030183)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|gonad development (GO:0008406)|learning or memory (GO:0007611)|nervous system development (GO:0007399)|neuroblast proliferation (GO:0007405)|vasculature development (GO:0001944)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	14		Lung NSC(55;0.0659)|all_lung(88;0.152)				AGGCCTGCCGCGCCCCCGGGA	0.652													C|||	1	0.000199681	0.0	0.0	5008	,	,		14443	0.0		0.0	False		,,,				2504	0.001				Pancreas(144;909 1878 36867 38226 39554)	uc003tyb.2		NaN																	0				central_nervous_system(1)	1						c.(1666-1668)CGC>CGT		frizzled 9 precursor		C		0,4400		0,0,2200	35.0	45.0	41.0		1668	2.0	0.3	7		41	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	FZD9	NM_003508.2		0,1,6498	TT,TC,CC		0.0116,0.0,0.0077		556/592	72850005	1,12997	2200	4299	6499	SO:0001819	synonymous_variant	8326				B cell differentiation|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|neuroblast proliferation|vasculature development	cell surface|filopodium membrane|integral to membrane|perinuclear region of cytoplasm	G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding	g.chr7:72850005C>T	U82169	CCDS5548.1	7q11.23	2014-01-29	2014-01-29		ENSG00000188763	ENSG00000188763		"""GPCR / Class F : Frizzled receptors"", ""CD molecules"""	4047	protein-coding gene	gene with protein product		601766	"""frizzled (Drosophila) homolog 9"", ""frizzled homolog 9 (Drosophila)"", ""frizzled 9, seven transmembrane spanning receptor"", ""frizzled family receptor 9"""			9147651, 10198163	Standard	NM_003508		Approved	FZD3, CD349	uc003tyb.3	O00144	OTTHUMG00000023051	ENST00000344575.3:c.1668C>T	7.37:g.72850005C>T							p.R556R	NM_003508	NP_003499	O00144	FZD9_HUMAN			1	1897	+		Lung NSC(55;0.0659)|all_lung(88;0.152)	556			Cytoplasmic (Potential).			Silent	SNP	ENST00000344575.3	37	c.1668C>T	CCDS5548.1																																																																																				0.652	FZD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252120.1				7	51	0	0	0	0.00308	0	7	51		
CYP3A7	1551	broad.mit.edu	37	7	99314836	99314836	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr7:99314836C>T	ENST00000336374.2	-	6	487	c.485G>A	c.(484-486)cGg>cAg	p.R162Q		NM_000765.3	NP_000756.2	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 7	162					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxygen binding (GO:0019825)			autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Alfentanil(DB00802)|Alprazolam(DB00404)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amlodipine(DB00381)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atorvastatin(DB01076)|Buprenorphine(DB00921)|Buspirone(DB00490)|Caffeine(DB00201)|Carbamazepine(DB00564)|Chloramphenicol(DB00446)|Chlorphenamine(DB01114)|Cilostazol(DB01166)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clotrimazole(DB00257)|Cocaine(DB00907)|Codeine(DB00318)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diltiazem(DB00343)|Docetaxel(DB01248)|Dolutegravir(DB08930)|Domperidone(DB01184)|Eplerenone(DB00700)|Erythromycin(DB00199)|Estradiol(DB00783)|Ethosuximide(DB00593)|Ethylmorphine(DB01466)|Felodipine(DB01023)|Fentanyl(DB00813)|Finasteride(DB01216)|Fluconazole(DB00196)|Fluticasone Propionate(DB00588)|Fluvoxamine(DB00176)|Gestodene(DB06730)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ifosfamide(DB01181)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lercanidipine(DB00528)|Levomethadyl Acetate(DB01227)|Lidocaine(DB00281)|Lovastatin(DB00227)|Methadone(DB00333)|Midazolam(DB00683)|Mifepristone(DB00834)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nifedipine(DB01115)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norfloxacin(DB01059)|Ondansetron(DB00904)|Oxazepam(DB00842)|Oxycodone(DB00497)|Paclitaxel(DB01229)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Praziquantel(DB01058)|Progesterone(DB00396)|Propranolol(DB00571)|Quetiapine(DB01224)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Testosterone(DB00624)|Trazodone(DB00656)|Tretinoin(DB00755)|Triazolam(DB00897)|Verapamil(DB00661)|Vincristine(DB00541)|Voriconazole(DB00582)|Zalcitabine(DB00943)|Zaleplon(DB00962)|Ziprasidone(DB00246)|Zolpidem(DB00425)	CTCTGCTTCCCGCCTCAGATT	0.502																																						uc003uru.2		NaN																	0		p.R162R(1)		ovary(1)	1						c.(484-486)CGG>CAG		cytochrome P450, family 3, subfamily A,							158.0	142.0	147.0					7																	99314836		2203	4300	6503	SO:0001583	missense	1551				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr7:99314836C>T	AF315325	CCDS5673.1	7q21-q22.1	2007-12-14	2003-01-14		ENSG00000160870	ENSG00000160870		"""Cytochrome P450s"""	2640	protein-coding gene	gene with protein product		605340	"""cytochrome P450, subfamily IIIA, polypeptide 7"""			2722762	Standard	NM_000765		Approved	CP37, P450-HFLA		P24462	OTTHUMG00000156726	ENST00000336374.2:c.485G>A	7.37:g.99314836C>T	ENSP00000337450:p.Arg162Gln					ZNF498_uc003urn.2_Intron|CYP3A5_uc003urs.2_Intron|CYP3A5_uc010lgg.2_Intron	p.R162Q	NM_000765	NP_000756	P24462	CP3A7_HUMAN			6	590	-	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)		162					A4D288|Q9H241	Missense_Mutation	SNP	ENST00000336374.2	37	c.485G>A	CCDS5673.1	.	.	.	.	.	.	.	.	.	.	C	5.239	0.229622	0.09916	.	.	ENSG00000160870	ENST00000292414;ENST00000336374	T	0.67523	-0.27	3.98	-3.22	0.05125	.	0.402232	0.29198	N	0.012849	T	0.32912	0.0845	N	0.04746	-0.17	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.16247	-1.0409	10	0.18710	T	0.47	.	4.7819	0.13206	0.1523:0.4101:0.0:0.4376	.	162	P24462	CP3A7_HUMAN	Q	162	ENSP00000337450:R162Q	ENSP00000292414:R162Q	R	-	2	0	CYP3A7	99152772	0.000000	0.05858	0.005000	0.12908	0.168000	0.22595	0.297000	0.19101	-0.597000	0.05813	-0.379000	0.06801	CGG		0.502	CYP3A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345484.1				26	104	0	0	0	0.025465	0	26	104		
MUC17	140453	broad.mit.edu	37	7	100686998	100686998	+	Missense_Mutation	SNP	C	C	T	rs368040615		TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr7:100686998C>T	ENST00000306151.4	+	3	12365	c.12301C>T	c.(12301-12303)Cgg>Tgg	p.R4101W		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4101					cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACCCAGCACACGGACCACTTC	0.562																																						uc003uxp.1		NaN																	0				ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(12301-12303)CGG>TGG		mucin 17 precursor							200.0	188.0	192.0					7																	100686998		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100686998C>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.12301C>T	7.37:g.100686998C>T	ENSP00000302716:p.Arg4101Trp					MUC17_uc010lho.1_RNA	p.R4101W	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	12354	+	Lung NSC(181;0.136)|all_lung(186;0.182)		4101			Extracellular (Potential).		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.12301C>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	1.161	-0.643878	0.03531	.	.	ENSG00000169876	ENST00000306151	T	0.01918	4.56	0.622	0.622	0.17648	.	.	.	.	.	T	0.01254	0.0041	N	0.14661	0.345	0.09310	N	1	P	0.40332	0.713	B	0.26864	0.074	T	0.51156	-0.8741	8	0.66056	D	0.02	.	.	.	.	.	4101	Q685J3	MUC17_HUMAN	W	4101	ENSP00000302716:R4101W	ENSP00000302716:R4101W	R	+	1	2	MUC17	100473718	0.000000	0.05858	0.006000	0.13384	0.012000	0.07955	-1.910000	0.01584	0.669000	0.31146	0.478000	0.44815	CGG		0.562	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1		NM_001040105		28	102	0	0	0	0.007291	0	28	102		
AASS	10157	broad.mit.edu	37	7	121741434	121741434	+	Missense_Mutation	SNP	C	C	T	rs201224904		TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr7:121741434C>T	ENST00000393376.1	-	12	1492	c.1397G>A	c.(1396-1398)cGg>cAg	p.R466Q	AASS_ENST00000417368.2_Missense_Mutation_p.R466Q|AASS_ENST00000473553.1_5'UTR			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	466					cellular nitrogen compound metabolic process (GO:0034641)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity (GO:0047131)|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity (GO:0047130)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54						CCTGCTCTCCCGGAGTGTCTG	0.318																																						uc003vka.2		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(1396-1398)CGG>CAG		aminoadipate-semialdehyde synthase precursor	L-Glutamic Acid(DB00142)|NADH(DB00157)						104.0	111.0	109.0					7																	121741434		2203	4299	6502	SO:0001583	missense	10157				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity	g.chr7:121741434C>T	AF229180	CCDS5783.1	7q31.3	2010-12-14			ENSG00000008311	ENSG00000008311			17366	protein-coding gene	gene with protein product		605113				10775527	Standard	NM_005763		Approved	LORSDH, LKRSDH	uc003vkb.3	Q9UDR5	OTTHUMG00000157058	ENST00000393376.1:c.1397G>A	7.37:g.121741434C>T	ENSP00000377040:p.Arg466Gln					AASS_uc011knu.1_RNA|AASS_uc011knv.1_RNA|AASS_uc003vkb.2_Missense_Mutation_p.R466Q|AASS_uc011knw.1_5'UTR	p.R466Q	NM_005763	NP_005754	Q9UDR5	AASS_HUMAN			12	1493	-			466					O95462	Missense_Mutation	SNP	ENST00000393376.1	37	c.1397G>A	CCDS5783.1	.	.	.	.	.	.	.	.	.	.	C	33	5.274471	0.95459	.	.	ENSG00000008311	ENST00000393376;ENST00000417368	.	.	.	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	D	0.85767	0.5773	M	0.90542	3.125	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.87002	0.2117	9	0.56958	D	0.05	-12.2988	19.7222	0.96147	0.0:1.0:0.0:0.0	.	466	Q9UDR5	AASS_HUMAN	Q	466	.	ENSP00000351834:R466Q	R	-	2	0	AASS	121528670	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.024000	0.70857	2.828000	0.97474	0.655000	0.94253	CGG		0.318	AASS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347300.1		NM_005763		17	59	0	0	0	0.014323	0	17	59		
ZNF786	136051	broad.mit.edu	37	7	148768943	148768943	+	Silent	SNP	T	T	C			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr7:148768943T>C	ENST00000491431.1	-	4	985	c.921A>G	c.(919-921)ccA>ccG	p.P307P	ZNF786_ENST00000451334.3_Silent_p.P270P|ZNF786_ENST00000316286.9_Silent_p.P221P	NM_152411.3	NP_689624.2	Q8N393	ZN786_HUMAN	zinc finger protein 786	307					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			TGCTGTCCACTGGGAGGGAGC	0.697																																						uc003wfh.2		NaN																	0				breast(3)|skin(1)	4						c.(919-921)CCA>CCG		zinc finger protein 786							14.0	16.0	15.0					7																	148768943		2049	4160	6209	SO:0001819	synonymous_variant	136051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:148768943T>C	AK095701, AL834510	CCDS47738.1	7q36.1	2013-01-08			ENSG00000197362	ENSG00000197362		"""Zinc fingers, C2H2-type"", ""-"""	21806	protein-coding gene	gene with protein product							Standard	NM_152411		Approved	DKFZp762I137	uc003wfh.2	Q8N393	OTTHUMG00000158975	ENST00000491431.1:c.921A>G	7.37:g.148768943T>C						ZNF786_uc011kuk.1_Silent_p.P270P|ZNF786_uc003wfi.2_Silent_p.P221P	p.P307P	NM_152411	NP_689624	Q8N393	ZN786_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)		4	1058	-	Melanoma(164;0.15)		307					A1A568|B4DMI1	Silent	SNP	ENST00000491431.1	37	c.921A>G	CCDS47738.1																																																																																				0.697	ZNF786-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352751.1		NM_152411		15	22	0	0	0	0.006122	0	15	22		
DLC1	10395	broad.mit.edu	37	8	12957624	12957624	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr8:12957624C>G	ENST00000276297.4	-	9	2631	c.2222G>C	c.(2221-2223)aGc>aCc	p.S741T	DLC1_ENST00000520226.1_Missense_Mutation_p.S230T|DLC1_ENST00000512044.2_Missense_Mutation_p.S338T|DLC1_ENST00000358919.2_Missense_Mutation_p.S304T	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	741	Focal adhesion-targeting (FAT).|Poly-Ser.				actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						GCTGCTGCTGCTGGTCTGCGT	0.627																																						uc003wwm.2		NaN																	0				ovary(3)|pancreas(2)|lung(1)|kidney(1)	7						c.(2221-2223)AGC>ACC		deleted in liver cancer 1 isoform 1							56.0	47.0	50.0					8																	12957624		2203	4300	6503	SO:0001583	missense	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:12957624C>G	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.2222G>C	8.37:g.12957624C>G	ENSP00000276297:p.Ser741Thr					DLC1_uc003wwk.1_Missense_Mutation_p.S304T|DLC1_uc003wwl.1_Missense_Mutation_p.S338T|DLC1_uc011kxx.1_Missense_Mutation_p.S230T	p.S741T	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN			9	2666	-			741			Poly-Ser.		B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	ENST00000276297.4	37	c.2222G>C	CCDS5989.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.320479	0.81469	.	.	ENSG00000164741	ENST00000276297;ENST00000358919;ENST00000512044;ENST00000520226	T;T;T;T	0.07688	3.42;3.19;3.19;3.17	4.57	4.57	0.56435	.	0.000000	0.85682	D	0.000000	T	0.31979	0.0814	M	0.80422	2.495	0.80722	D	1	D;B;D	0.65815	0.995;0.103;0.99	P;B;D	0.72982	0.795;0.132;0.979	T	0.09975	-1.0650	10	0.66056	D	0.02	.	17.9274	0.88987	0.0:1.0:0.0:0.0	.	741;338;304	Q96QB1;E9PDZ8;Q96QB1-1	RHG07_HUMAN;.;.	T	741;304;338;230	ENSP00000276297:S741T;ENSP00000351797:S304T;ENSP00000422595:S338T;ENSP00000428028:S230T	ENSP00000276297:S741T	S	-	2	0	DLC1	13001995	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.462000	0.80851	2.527000	0.85204	0.561000	0.74099	AGC		0.627	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2		NM_182643, NM_006094		3	90	0	0	0	0.009096	0	3	90		
MTMR7	9108	broad.mit.edu	37	8	17157445	17157445	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr8:17157445C>T	ENST00000180173.5	-	14	1943	c.1909G>A	c.(1909-1911)Ggt>Agt	p.G637S	MTMR7_ENST00000398099.3_Missense_Mutation_p.G228S|VPS37A_ENST00000521162.1_3'UTR	NM_004686.4	NP_004677.3	Q9Y216	MTMR7_HUMAN	myotubularin related protein 7	637					inositol phosphate dephosphorylation (GO:0046855)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32				Colorectal(111;0.112)		TGCTCACCACCACTTGGAGAC	0.498																																						uc003wxm.2		NaN																	0				skin(1)	1						c.(1909-1911)GGT>AGT		myotubularin related protein 7							91.0	80.0	83.0					8																	17157445		2203	4300	6503	SO:0001583	missense	9108						protein tyrosine phosphatase activity	g.chr8:17157445C>T	AF073482	CCDS34851.1	8p22	2011-06-09			ENSG00000003987	ENSG00000003987		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7454	protein-coding gene	gene with protein product		603562				9736772, 12890864	Standard	NM_004686		Approved		uc003wxm.3	Q9Y216	OTTHUMG00000163771	ENST00000180173.5:c.1909G>A	8.37:g.17157445C>T	ENSP00000180173:p.Gly637Ser					MTMR7_uc011kya.1_Missense_Mutation_p.G271S|MTMR7_uc011kyb.1_Missense_Mutation_p.G228S	p.G637S	NM_004686	NP_004677	Q9Y216	MTMR7_HUMAN		Colorectal(111;0.112)	14	2148	-			637					A1L4K9|B4DG87|Q68DX4	Missense_Mutation	SNP	ENST00000180173.5	37	c.1909G>A	CCDS34851.1	.	.	.	.	.	.	.	.	.	.	C	18.45	3.627741	0.66901	.	.	ENSG00000003987	ENST00000180173;ENST00000398099	D;T	0.93712	-3.27;-1.47	5.6	5.6	0.85130	.	0.227380	0.45126	D	0.000392	D	0.89455	0.6720	N	0.24115	0.695	0.48236	D	0.999612	B	0.11235	0.004	B	0.13407	0.009	D	0.83617	0.0137	10	0.45353	T	0.12	.	20.0011	0.97409	0.0:1.0:0.0:0.0	.	637	Q9Y216	MTMR7_HUMAN	S	637;228	ENSP00000180173:G637S;ENSP00000381171:G228S	ENSP00000180173:G637S	G	-	1	0	MTMR7	17201816	0.941000	0.31946	0.835000	0.33067	0.847000	0.48162	4.595000	0.61048	2.818000	0.97014	0.591000	0.81541	GGT		0.498	MTMR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375311.1		NM_004686		70	66	0	0	0	0.01441	0	70	66		
FZD3	7976	broad.mit.edu	37	8	28385479	28385479	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr8:28385479G>T	ENST00000240093.3	+	5	1680	c.1202G>T	c.(1201-1203)cGa>cTa	p.R401L	RNA5SP259_ENST00000365541.1_RNA|FZD3_ENST00000537916.1_Missense_Mutation_p.R401L	NM_017412.3	NP_059108.1	Q9NPG1	FZD3_HUMAN	frizzled class receptor 3	401					canonical Wnt signaling pathway (GO:0060070)|cell proliferation in midbrain (GO:0033278)|commissural neuron axon guidance (GO:0071679)|establishment of planar polarity (GO:0001736)|facial nucleus development (GO:0021754)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hair follicle development (GO:0001942)|inner ear morphogenesis (GO:0042472)|neural tube closure (GO:0001843)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|post-anal tail morphogenesis (GO:0036342)|vasculature development (GO:0001944)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|neuron projection membrane (GO:0032589)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(15)|ovary(1)|prostate(1)|skin(1)	41		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)		AACAGAGTTCGAATTGAGATT	0.403																																						uc003xgx.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(1201-1203)CGA>CTA		frizzled 3 precursor							137.0	137.0	137.0					8																	28385479		2203	4300	6503	SO:0001583	missense	7976				canonical Wnt receptor signaling pathway|cell proliferation in midbrain|commissural neuron axon guidance|establishment of planar polarity|facial nucleus development|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|neural tube closure|vasculature development	apical part of cell|axon|cytoplasm|dendrite|integral to membrane|neuron projection membrane|neuronal cell body|presynaptic active zone	G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding	g.chr8:28385479G>T	AJ272427	CCDS6069.1	8p21	2014-06-27	2014-01-29		ENSG00000104290	ENSG00000104290		"""GPCR / Class F : Frizzled receptors"""	4041	protein-coding gene	gene with protein product		606143	"""frizzled (Drosophila) homolog 3"", ""frizzled homolog 3 (Drosophila)"", ""frizzled 3, seven transmembrane spanning receptor"", ""frizzled family receptor 3"""			10777673, 10873558	Standard	NM_145866		Approved		uc010lvb.3	Q9NPG1	OTTHUMG00000102145	ENST00000240093.3:c.1202G>T	8.37:g.28385479G>T	ENSP00000240093:p.Arg401Leu					FZD3_uc010lvb.2_Missense_Mutation_p.R401L	p.R401L	NM_017412	NP_059108	Q9NPG1	FZD3_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)	5	1680	+		Ovarian(32;2.06e-05)	401			Cytoplasmic (Potential).		A8K615	Missense_Mutation	SNP	ENST00000240093.3	37	c.1202G>T	CCDS6069.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.447709	0.84101	.	.	ENSG00000104290	ENST00000537916;ENST00000240093	D;D	0.85629	-2.01;-2.01	5.45	5.45	0.79879	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	D	0.94719	0.8296	H	0.94542	3.55	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95915	0.8926	10	0.87932	D	0	.	17.8242	0.88660	0.0:0.0:1.0:0.0	.	401	Q9NPG1	FZD3_HUMAN	L	401	ENSP00000437489:R401L;ENSP00000240093:R401L	ENSP00000240093:R401L	R	+	2	0	FZD3	28441398	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.549000	0.85964	0.563000	0.77884	CGA		0.403	FZD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219986.2		NM_145866		82	83	1	0	1.17611e-34	0.01441	1.3094e-34	82	83		
FUT10	84750	broad.mit.edu	37	8	33247281	33247281	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr8:33247281G>A	ENST00000327671.5	-	4	1043	c.412C>T	c.(412-414)Cgg>Tgg	p.R138W	FUT10_ENST00000335589.3_Missense_Mutation_p.R76W|FUT10_ENST00000518672.1_Missense_Mutation_p.R110W|FUT10_ENST00000518076.1_5'UTR|FUT10_ENST00000524021.1_Missense_Mutation_p.R110W	NM_032664.3	NP_116053.3	Q6P4F1	FUT10_HUMAN	fucosyltransferase 10 (alpha (1,3) fucosyltransferase)	138					embryo development (GO:0009790)|fertilization (GO:0009566)|fucosylation (GO:0036065)|hemopoiesis (GO:0030097)|L-fucose catabolic process (GO:0042355)|nervous system development (GO:0007399)|protein folding (GO:0006457)|protein glycosylation (GO:0006486)|protein targeting (GO:0006605)|wound healing (GO:0042060)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)			cervix(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	29				KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154)		TGGGCTTTCCGAGGCAGAGGT	0.388																																						uc003xje.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(412-414)CGG>TGG		fucosyltransferase 10							69.0	66.0	67.0					8																	33247281		2203	4300	6503	SO:0001583	missense	84750				embryo development|fertilization|hemopoiesis|L-fucose catabolic process|nervous system development|protein folding|protein glycosylation|protein targeting|wound healing	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity	g.chr8:33247281G>A	AJ512465	CCDS6088.1	8p12	2013-02-26			ENSG00000172728	ENSG00000172728		"""Fucosyltransferases"""	19234	protein-coding gene	gene with protein product							Standard	NM_032664		Approved		uc003xje.3	Q6P4F1	OTTHUMG00000163954	ENST00000327671.5:c.412C>T	8.37:g.33247281G>A	ENSP00000332757:p.Arg138Trp					FUT10_uc003xjc.2_Missense_Mutation_p.R145W|FUT10_uc003xjd.2_Missense_Mutation_p.R110W|FUT10_uc011lbi.1_Missense_Mutation_p.R188W|FUT10_uc003xjf.2_Missense_Mutation_p.R76W|FUT10_uc003xjg.2_Missense_Mutation_p.R110W|FUT10_uc003xjh.2_Missense_Mutation_p.R138W	p.R138W	NM_032664	NP_116053	Q6P4F1	FUT10_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154)	4	768	-			138			Lumenal (Potential).		A8KAC8|Q70GG3|Q8IVI6|Q8IVI7|Q8IVJ3|Q8TE43|Q9BSR3	Missense_Mutation	SNP	ENST00000327671.5	37	c.412C>T	CCDS6088.1	.	.	.	.	.	.	.	.	.	.	g	18.10	3.549573	0.65311	.	.	ENSG00000172728	ENST00000327671;ENST00000380081;ENST00000518672;ENST00000524021;ENST00000335589	T;T;T;T	0.51325	0.71;0.71;0.71;0.71	5.17	4.29	0.51040	.	0.000000	0.64402	D	0.000001	T	0.77377	0.4121	H	0.96111	3.77	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;0.999;1.0;0.999;1.0;1.0	D	0.84372	0.0544	10	0.87932	D	0	0.0191	13.1358	0.59409	0.0:0.0:0.8384:0.1616	.	188;138;110;76;138;180	B4E056;Q6P4F1-5;Q6P4F1-4;Q6P4F1-3;Q6P4F1;E7EU36	.;.;.;.;FUT10_HUMAN;.	W	138;180;110;110;76	ENSP00000332757:R138W;ENSP00000430428:R110W;ENSP00000429870:R110W;ENSP00000334997:R76W	ENSP00000332757:R138W	R	-	1	2	FUT10	33366823	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	6.397000	0.73239	1.287000	0.44583	-0.328000	0.08392	CGG		0.388	FUT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376540.1		NM_032664		37	71	0	0	0	0.007835	0	37	71		
PXDNL	137902	broad.mit.edu	37	8	52384861	52384861	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr8:52384861C>A	ENST00000356297.4	-	8	798	c.698G>T	c.(697-699)aGc>aTc	p.S233I	PXDNL_ENST00000543296.1_Missense_Mutation_p.S233I	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	233	LRRCT.				hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				AATTCGGGGGCTCTCTGCAAC	0.408																																						uc003xqu.3		NaN																	0				ovary(1)|pancreas(1)	2						c.(697-699)AGC>ATC		peroxidasin homolog-like precursor							85.0	80.0	82.0					8																	52384861		1839	4078	5917	SO:0001583	missense	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52384861C>A		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.698G>T	8.37:g.52384861C>A	ENSP00000348645:p.Ser233Ile						p.S233I	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN			8	799	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	233			LRRCT.		B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	37	c.698G>T	CCDS47855.1	.	.	.	.	.	.	.	.	.	.	C	5.283	0.237536	0.10023	.	.	ENSG00000147485	ENST00000356297;ENST00000543296	T;T	0.39787	1.06;1.06	3.84	1.89	0.25635	Immunoglobulin-like fold (1);	.	.	.	.	T	0.34308	0.0893	L	0.40543	1.245	0.20489	N	0.999896	B	0.25955	0.138	B	0.22601	0.04	T	0.25187	-1.0139	9	0.72032	D	0.01	.	11.1759	0.48598	0.0:0.64:0.36:0.0	.	233	A1KZ92	PXDNL_HUMAN	I	233	ENSP00000348645:S233I;ENSP00000444865:S233I	ENSP00000348645:S233I	S	-	2	0	PXDNL	52547414	0.964000	0.33143	0.030000	0.17652	0.095000	0.18619	2.285000	0.43487	0.106000	0.17784	-0.494000	0.04653	AGC		0.408	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1		NM_144651		17	133	1	0	8.34094e-07	0.008871	8.70585e-07	17	133		
VPS13B	157680	broad.mit.edu	37	8	100865842	100865842	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr8:100865842G>A	ENST00000358544.2	+	56	10411	c.10300G>A	c.(10300-10302)Gag>Aag	p.E3434K	VPS13B_ENST00000357162.2_Missense_Mutation_p.E3409K|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3434					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CCCTGGGGAAGAGCCTGTGGC	0.527																																					Colon(161;2205 2542 7338 31318)	uc003yiv.2		NaN																	0				ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20						c.(10300-10302)GAG>AAG		vacuolar protein sorting 13B isoform 5							65.0	62.0	63.0					8																	100865842		2203	4300	6503	SO:0001583	missense	157680				protein transport			g.chr8:100865842G>A	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.10300G>A	8.37:g.100865842G>A	ENSP00000351346:p.Glu3434Lys					VPS13B_uc003yiw.2_Missense_Mutation_p.E3409K	p.E3434K	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		56	10411	+	Breast(36;3.73e-07)		3434					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.10300G>A	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	G	16.93	3.258548	0.59321	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.68765	-0.35;-0.35	5.43	5.43	0.79202	.	0.324102	0.28815	N	0.014057	T	0.62417	0.2426	L	0.46157	1.445	0.80722	D	1	B;P	0.36282	0.302;0.546	B;B	0.32980	0.116;0.156	T	0.65269	-0.6209	10	0.52906	T	0.07	.	19.2337	0.93850	0.0:0.0:1.0:0.0	.	3409;3434	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	K	3409;3434	ENSP00000349685:E3409K;ENSP00000351346:E3434K	ENSP00000349685:E3409K	E	+	1	0	VPS13B	100935018	1.000000	0.71417	0.989000	0.46669	0.513000	0.34164	6.489000	0.73641	2.517000	0.84864	0.650000	0.86243	GAG		0.527	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1		NM_184042		45	58	0	0	0	0.01441	0	45	58		
PKHD1L1	93035	broad.mit.edu	37	8	110498987	110498987	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr8:110498987G>A	ENST00000378402.5	+	59	9921	c.9817G>A	c.(9817-9819)Gag>Aag	p.E3273K		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3273					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CGGTTGGTCTGAGGACTCTTT	0.423										HNSCC(38;0.096)																												uc003yne.2		NaN																	0				ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14						c.(9817-9819)GAG>AAG		fibrocystin L precursor							234.0	231.0	232.0					8																	110498987		1942	4131	6073	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110498987G>A	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.9817G>A	8.37:g.110498987G>A	ENSP00000367655:p.Glu3273Lys	HNSCC(38;0.096)					p.E3273K	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		59	9921	+			3273			Extracellular (Potential).		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.9817G>A	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.941275	0.00479	.	.	ENSG00000205038	ENST00000378402;ENST00000526472	D;D	0.82619	-1.63;-1.63	5.42	-3.79	0.04320	Pectin lyase fold/virulence factor (1);	0.632492	0.16264	N	0.222087	T	0.52597	0.1744	N	0.03999	-0.3	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.53258	-0.8464	10	0.02654	T	1	.	6.6321	0.22863	0.2916:0.3666:0.3417:0.0	.	3273	Q86WI1	PKHL1_HUMAN	K	3273;201	ENSP00000367655:E3273K;ENSP00000437376:E201K	ENSP00000367655:E3273K	E	+	1	0	PKHD1L1	110568163	0.000000	0.05858	0.015000	0.15790	0.016000	0.09150	-1.128000	0.03247	-0.598000	0.05806	-1.129000	0.01985	GAG		0.423	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1		NM_177531		59	336	0	0	0	0.01441	0	59	336		
CSMD3	114788	broad.mit.edu	37	8	113694839	113694839	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr8:113694839G>A	ENST00000297405.5	-	16	2753	c.2509C>T	c.(2509-2511)Cct>Tct	p.P837S	CSMD3_ENST00000455883.2_Missense_Mutation_p.P733S|CSMD3_ENST00000343508.3_Missense_Mutation_p.P797S|CSMD3_ENST00000352409.3_Missense_Mutation_p.P837S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	837	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GGTATTCCAGGATCAGGGCAT	0.358										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2		NaN																	0				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(2509-2511)CCT>TCT		CUB and Sushi multiple domains 3 isoform 1							89.0	89.0	89.0					8																	113694839		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113694839G>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.2509C>T	8.37:g.113694839G>A	ENSP00000297405:p.Pro837Ser	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.P109S|CSMD3_uc003ynt.2_Missense_Mutation_p.P797S|CSMD3_uc011lhx.1_Missense_Mutation_p.P733S	p.P837S	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			16	2668	-			837			Sushi 4.|Extracellular (Potential).		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.2509C>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.915566	0.92178	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	D;D;D;D;D	0.84516	-1.86;-1.86;-1.86;-1.86;-1.86	5.58	5.58	0.84498	Complement control module (2);Sushi/SCR/CCP (3);	0.076380	0.53938	D	0.000055	D	0.95239	0.8456	H	0.96239	3.79	0.49798	D	0.999822	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.95835	0.8861	10	0.54805	T	0.06	.	19.557	0.95354	0.0:0.0:1.0:0.0	.	733;837;797	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	S	797;837;177;733;837	ENSP00000345799:P797S;ENSP00000297405:P837S;ENSP00000341558:P177S;ENSP00000412263:P733S;ENSP00000343124:P837S	ENSP00000297405:P837S	P	-	1	0	CSMD3	113764015	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.623000	0.88846	0.650000	0.86243	CCT		0.358	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1		NM_052900		15	164	0	0	0	0.007413	0	15	164		
AARD	441376	broad.mit.edu	37	8	117950663	117950663	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr8:117950663C>T	ENST00000378279.3	+	1	226	c.181C>T	c.(181-183)Cga>Tga	p.R61*		NM_001025357.2	NP_001020528.1	Q4LEZ3	AARD_HUMAN	alanine and arginine rich domain containing protein	61	Ala/Arg-rich.				lung development (GO:0030324)												GGACCTCAGACGACGGCTGAC	0.746																																						uc003yof.2		NaN																	0					0						c.(181-183)CGA>TGA		alanine and arginine-rich domain-containing							10.0	12.0	11.0					8																	117950663		2170	4243	6413	SO:0001587	stop_gained	441376							g.chr8:117950663C>T	AB181519, BC140924	CCDS34935.1	8q24.11	2012-04-19	2012-04-19	2012-04-19	ENSG00000205002	ENSG00000205002			33842	protein-coding gene	gene with protein product	"""Alanine and arginine-rich domain-containing protein"""		"""chromosome 8 open reading frame 85"""	C8orf85			Standard	NM_001025357		Approved	LOC441376	uc003yof.3	Q4LEZ3	OTTHUMG00000164961	ENST00000378279.3:c.181C>T	8.37:g.117950663C>T	ENSP00000367528:p.Arg61*						p.R61*	NM_001025357	NP_001020528	Q4LEZ3	AARD_HUMAN			1	200	+			61			Ala/Arg-rich.		A5PKU8	Nonsense_Mutation	SNP	ENST00000378279.3	37	c.181C>T	CCDS34935.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.056405	0.76074	.	.	ENSG00000205002	ENST00000378279	.	.	.	3.49	0.0665	0.14362	.	0.428590	0.17201	N	0.183110	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.6235	5.2783	0.15661	0.4304:0.3753:0.1943:0.0	.	.	.	.	X	61	.	ENSP00000367528:R61X	R	+	1	2	C8orf85	118019844	0.210000	0.23517	0.090000	0.20809	0.005000	0.04900	0.012000	0.13287	0.220000	0.20860	-0.519000	0.04390	CGA		0.746	AARD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381195.1		NM_001025357		4	35	0	0	0	0.014758	0	4	35		
FER1L6	654463	broad.mit.edu	37	8	125082841	125082841	+	Splice_Site	SNP	C	C	T			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr8:125082841C>T	ENST00000522917.1	+	30	4172		c.e30+2		FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Splice_Site	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6							integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			AAATTTAAGGCAGGTTCCATT	0.418																																						uc003yqw.2		NaN																	0				ovary(5)|skin(5)|central_nervous_system(1)	11						c.e30+2		fer-1-like 6							125.0	121.0	122.0					8																	125082841		1827	4083	5910	SO:0001630	splice_region_variant	654463					integral to membrane		g.chr8:125082841C>T	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.3966+2C>T	8.37:g.125082841C>T						uc003yqy.1_Intron	p.K1322_splice	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		30	4172	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)								Splice_Site	SNP	ENST00000522917.1	37	c.3966_splice	CCDS43767.1	.	.	.	.	.	.	.	.	.	.	C	17.49	3.403754	0.62288	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	.	.	.	5.96	3.9	0.45041	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.1556	0.15032	0.0:0.3033:0.0:0.6967	.	.	.	.	.	-1	.	.	.	+	.	.	FER1L6	125152022	1.000000	0.71417	0.971000	0.41717	0.816000	0.46133	4.928000	0.63447	0.717000	0.32145	0.655000	0.94253	.		0.418	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1		NM_001039112	Intron	33	109	0	0	0	0.027894	0	33	109		
MROH5	389690	broad.mit.edu	37	8	142481169	142481169	+	RNA	SNP	C	C	G	rs569045409		TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr8:142481169C>G	ENST00000430863.1	-	0	2072					NM_207414.2	NP_997297.2	Q6ZUA9	MROH5_HUMAN	maestro heat-like repeat family member 5																		TGTGGCACATCAAGAGCTGGT	0.592																																						uc003ywi.2		NaN																	0					0						c.(1990-1992)TTG>TTC		hypothetical protein LOC389690							136.0	145.0	142.0					8																	142481169		2090	4191	6281			389690						binding	g.chr8:142481169C>G			8q24.3	2012-12-20			ENSG00000226807	ENSG00000226807		"""maestro heat-like repeat containing"""	42976	protein-coding gene	gene with protein product							Standard	NM_207414		Approved	FLJ43860	uc003ywi.2	Q6ZUA9	OTTHUMG00000155944		8.37:g.142481169C>G						FLJ43860_uc011ljs.1_RNA|FLJ43860_uc010meu.1_RNA	p.L664F	NM_207414	NP_997297	Q6ZUA9	Q6ZUA9_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0493)		16	2073	-	all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		664						Missense_Mutation	SNP	ENST00000430863.1	37	c.1992G>C																																																																																					0.592	MROH5-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000342412.4		NM_207414		77	338	0	0	0	0.01441	0	77	338		
PLGRKT	55848	broad.mit.edu	37	9	5431965	5431965	+	Missense_Mutation	SNP	A	A	T			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr9:5431965A>T	ENST00000223864.2	-	3	234	c.13T>A	c.(13-15)Ttt>Att	p.F5I	PLGRKT_ENST00000482696.1_5'UTR	NM_018465.3	NP_060935.2	Q9HBL7	PLRKT_HUMAN	plasminogen receptor, C-terminal lysine transmembrane protein	5					chemotaxis (GO:0006935)|inflammatory response (GO:0006954)|positive regulation of plasminogen activation (GO:0010756)	integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)											GATTTTGAAAATATAAACCCC	0.313																																						uc003zjc.2		NaN																	0				ovary(1)	1						c.(13-15)TTT>ATT		hypothetical protein LOC55848							35.0	37.0	36.0					9																	5431965		2201	4296	6497	SO:0001583	missense	55848					integral to membrane		g.chr9:5431965A>T	AF225420	CCDS6463.1	9p24.1	2012-04-12	2012-04-12	2012-04-12	ENSG00000107020	ENSG00000107020			23633	protein-coding gene	gene with protein product	"""uncharacterized hematopoietic stem/progenitor cells protein MDS030"", ""plasminogen receptor with a C-terminal lysine"""		"""chromosome 9 open reading frame 46"""	C9orf46		12477932	Standard	NM_018465		Approved	MDS030, FLJ14688, AD025, Plg-RKT	uc003zjc.3	Q9HBL7	OTTHUMG00000019501	ENST00000223864.2:c.13T>A	9.37:g.5431965A>T	ENSP00000223864:p.Phe5Ile					C9orf46_uc003zjd.2_Missense_Mutation_p.F5I	p.F5I	NM_018465	NP_060935	Q9HBL7	CI046_HUMAN		GBM - Glioblastoma multiforme(50;0.00106)|Lung(218;0.125)	3	217	-	all_hematologic(13;0.158)	Acute lymphoblastic leukemia(23;0.154)	5					B2R6W0|Q9NZ44	Missense_Mutation	SNP	ENST00000223864.2	37	c.13T>A	CCDS6463.1	.	.	.	.	.	.	.	.	.	.	A	11.22	1.574907	0.28092	.	.	ENSG00000107020	ENST00000223864	.	.	.	5.62	3.29	0.37713	.	0.361134	0.29126	N	0.013070	T	0.29652	0.0740	L	0.28344	0.845	0.29890	N	0.825279	B	0.02656	0.0	B	0.04013	0.001	T	0.21143	-1.0254	9	0.16896	T	0.51	.	7.9799	0.30177	0.8409:0.0:0.1591:0.0	.	5	Q9HBL7	CI046_HUMAN	I	5	.	ENSP00000223864:F5I	F	-	1	0	C9orf46	5421965	1.000000	0.71417	0.994000	0.49952	0.963000	0.63663	1.634000	0.37123	0.421000	0.25980	0.528000	0.53228	TTT		0.313	PLGRKT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051626.1		NM_018465		5	5	0	0	0	0.021553	0	5	5		
RUSC2	9853	broad.mit.edu	37	9	35547012	35547012	+	Missense_Mutation	SNP	G	G	A	rs376434474		TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr9:35547012G>A	ENST00000455600.1	+	2	1063	c.494G>A	c.(493-495)cGg>cAg	p.R165Q	RUSC2_ENST00000468041.1_3'UTR	NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	165						cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)	Rab GTPase binding (GO:0017137)			NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			ACACGCAGTCGGGCTGGAGTG	0.622																																						uc003zww.2		NaN																	0				ovary(1)	1						c.(493-495)CGG>CAG		RUN and SH3 domain containing 2		G	GLN/ARG,GLN/ARG	1,4405		0,1,2202	53.0	48.0	50.0		494,494	5.4	1.0	9		50	0,8600		0,0,4300	no	missense,missense	RUSC2	NM_001135999.1,NM_014806.2	43,43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	165/1517,165/1517	35547012	1,13005	2203	4300	6503	SO:0001583	missense	9853					cytosol		g.chr9:35547012G>A	AB002373	CCDS35008.1	9p13.2	2003-12-02			ENSG00000198853	ENSG00000198853			23625	protein-coding gene	gene with protein product		611053				9205841	Standard	NM_001135999		Approved	KIAA0375	uc003zww.3	Q8N2Y8	OTTHUMG00000019861	ENST00000455600.1:c.494G>A	9.37:g.35547012G>A	ENSP00000393922:p.Arg165Gln					RUSC2_uc010mkq.2_RNA|RUSC2_uc003zwx.3_Missense_Mutation_p.R165Q	p.R165Q	NM_014806	NP_055621	Q8N2Y8	RUSC2_HUMAN	Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)		2	749	+			165					A2RU62|A7E2A9|O15080|Q5W134|Q641Q6|Q6P1W7	Missense_Mutation	SNP	ENST00000455600.1	37	c.494G>A	CCDS35008.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.419663	0.83559	2.27E-4	0.0	ENSG00000198853	ENST00000361226;ENST00000455600;ENST00000543478	T;T	0.26067	1.76;1.76	5.36	5.36	0.76844	.	0.244803	0.35903	N	0.002907	T	0.39226	0.1070	L	0.32530	0.975	0.44728	D	0.997727	D	0.76494	0.999	P	0.61275	0.886	T	0.17501	-1.0367	10	0.66056	D	0.02	-15.0994	18.0668	0.89394	0.0:0.0:1.0:0.0	.	165	Q8N2Y8	RUSC2_HUMAN	Q	165	ENSP00000355177:R165Q;ENSP00000393922:R165Q	ENSP00000355177:R165Q	R	+	2	0	RUSC2	35537012	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.200000	0.65158	2.522000	0.85027	0.561000	0.74099	CGG		0.622	RUSC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052309.1		XM_048462		22	69	0	0	0	0.016522	0	22	69		
NOL8	55035	broad.mit.edu	37	9	95081520	95081520	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr9:95081520C>T	ENST00000535387.1	-	4	399	c.400G>A	c.(400-402)Gaa>Aaa	p.E134K	NOL8_ENST00000543985.1_5'Flank|NOL8_ENST00000358855.4_Missense_Mutation_p.E66K|NOL8_ENST00000545558.1_Missense_Mutation_p.E134K|NOL8_ENST00000542053.1_Missense_Mutation_p.E66K|NOL8_ENST00000442668.2_Missense_Mutation_p.E134K					nucleolar protein 8											endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						CCTGGCACTTCTGTCCCTGGC	0.463																																						uc004arv.2		NaN																	0				ovary(1)	1						c.(400-402)GAA>AAA		nucleolar protein 8							167.0	156.0	160.0					9																	95081520		2002	4173	6175	SO:0001583	missense	55035				DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding	g.chr9:95081520C>T	AB109030	CCDS47993.1, CCDS59135.1	9q22.32	2013-02-12	2004-01-12	2004-01-14	ENSG00000198000	ENSG00000198000		"""RNA binding motif (RRM) containing"""	23387	protein-coding gene	gene with protein product		611534	"""chromosome 9 open reading frame 34"""	C9orf34		12477932	Standard	NM_017948		Approved	FLJ20736, Nop132	uc022bjx.1	Q76FK4	OTTHUMG00000020221	ENST00000535387.1:c.400G>A	9.37:g.95081520C>T	ENSP00000441300:p.Glu134Lys					NOL8_uc004arw.2_Intron|NOL8_uc011ltw.1_Missense_Mutation_p.E66K|NOL8_uc004arx.2_Missense_Mutation_p.E134K	p.E134K	NM_017948	NP_060418	Q76FK4	NOL8_HUMAN			5	737	-			134						Missense_Mutation	SNP	ENST00000535387.1	37	c.400G>A	CCDS47993.1	.	.	.	.	.	.	.	.	.	.	C	35	5.491790	0.96339	.	.	ENSG00000198000	ENST00000442668;ENST00000375594;ENST00000358855;ENST00000545558;ENST00000535387;ENST00000542053;ENST00000432670;ENST00000433029;ENST00000421075;ENST00000411621;ENST00000535807;ENST00000536624	T;T;T;T;T;T;T;T;T	0.52526	2.2;2.09;2.2;2.4;2.09;1.95;0.66;0.76;1.28	5.39	5.39	0.77823	.	0.046081	0.85682	D	0.000000	T	0.63414	0.2509	L	0.52011	1.625	0.52501	D	0.999958	D	0.76494	0.999	D	0.63381	0.914	T	0.64732	-0.6338	10	0.72032	D	0.01	-22.1803	19.5227	0.95192	0.0:1.0:0.0:0.0	.	134	Q76FK4	NOL8_HUMAN	K	134;134;66;134;134;66;134;134;134;66;66;134	ENSP00000401177:E134K;ENSP00000351723:E66K;ENSP00000441140:E134K;ENSP00000441300:E134K;ENSP00000440709:E66K;ENSP00000414112:E134K;ENSP00000412471:E134K;ENSP00000390143:E134K;ENSP00000442037:E134K	ENSP00000351723:E66K	E	-	1	0	NOL8	94121341	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.988000	0.70579	2.699000	0.92147	0.650000	0.86243	GAA		0.463	NOL8-010	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053082.2		NM_017948		12	30	0	0	0	0.016723	0	12	30		
NOTCH1	4851	broad.mit.edu	37	9	139399897	139399897	+	Missense_Mutation	SNP	T	T	A			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr9:139399897T>A	ENST00000277541.6	-	25	4526	c.4451A>T	c.(4450-4452)aAt>aTt	p.N1484I		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1484					anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CCAGGGGTCATTGAAGTTGAG	0.622			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												uc004chz.2		NaN		Dom	yes		9	9q34.3	4851	T|Mis|O	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		0				haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856						c.(4450-4452)AAT>ATT		notch1 preproprotein							39.0	47.0	44.0					9																	139399897		2157	4256	6413	SO:0001583	missense	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139399897T>A	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.4451A>T	9.37:g.139399897T>A	ENSP00000277541:p.Asn1484Ile	HNSCC(8;0.001)				NOTCH1_uc004cia.1_Missense_Mutation_p.N714I	p.N1484I	NM_017617	NP_060087	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	25	4451	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	1484			Extracellular (Potential).|LNR 1.		Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.4451A>T	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	T	19.72	3.879684	0.72294	.	.	ENSG00000148400	ENST00000277541	D	0.82433	-1.61	4.18	4.18	0.49190	Notch domain (2);	0.058442	0.64402	U	0.000002	D	0.85792	0.5779	M	0.81497	2.545	0.58432	D	0.999998	P	0.48764	0.915	P	0.47915	0.561	D	0.87282	0.2293	10	0.59425	D	0.04	.	12.402	0.55418	0.0:0.0:0.0:1.0	.	1484	P46531	NOTC1_HUMAN	I	1484	ENSP00000277541:N1484I	ENSP00000277541:N1484I	N	-	2	0	NOTCH1	138519718	1.000000	0.71417	0.999000	0.59377	0.962000	0.63368	5.736000	0.68597	1.517000	0.48917	0.472000	0.43445	AAT		0.622	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1		NM_017617		9	36	0	0	0	0.020292	0	9	36		
CLCN4	1183	broad.mit.edu	37	X	10188760	10188760	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chrX:10188760G>A	ENST00000380833.4	+	12	2426	c.2035G>A	c.(2035-2037)Gaa>Aaa	p.E679K	CLCN4_ENST00000380829.1_Missense_Mutation_p.E648K|CLCN4_ENST00000421085.2_Missense_Mutation_p.E585K	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN	chloride channel, voltage-sensitive 4	679					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CTTCACGGAGGAACCCCCCGA	0.567																																					Melanoma(74;1050 1296 1576 30544 38374)	uc004csy.3		NaN																	0				ovary(2)|lung(2)|upper_aerodigestive_tract(1)	5						c.(2035-2037)GAA>AAA		chloride channel 4							108.0	92.0	97.0					X																	10188760		2203	4300	6503	SO:0001583	missense	1183					early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	g.chrX:10188760G>A	X77197	CCDS14137.1, CCDS59159.1	Xp22.3	2012-09-26	2012-02-23		ENSG00000073464	ENSG00000073464		"""Ion channels / Chloride channels : Voltage-sensitive"""	2022	protein-coding gene	gene with protein product		302910	"""chloride channel 4"""			8069296	Standard	NM_001830		Approved	CLC4, ClC-4	uc004csy.4	P51793	OTTHUMG00000021125	ENST00000380833.4:c.2035G>A	X.37:g.10188760G>A	ENSP00000370213:p.Glu679Lys					CLCN4_uc011mid.1_Missense_Mutation_p.E585K	p.E679K	NM_001830	NP_001821	P51793	CLCN4_HUMAN			12	2465	+			679			Cytoplasmic (By similarity).		A1L3U1|B7Z5Z4|Q9UBU1	Missense_Mutation	SNP	ENST00000380833.4	37	c.2035G>A	CCDS14137.1	.	.	.	.	.	.	.	.	.	.	g	15.50	2.852032	0.51270	.	.	ENSG00000073464	ENST00000380833;ENST00000380829;ENST00000421085	D;D;D	0.88201	-2.35;-2.35;-2.35	5.36	5.36	0.76844	.	0.155915	0.56097	D	0.000037	T	0.79499	0.4456	N	0.14661	0.345	0.50039	D	0.999848	B	0.02656	0.0	B	0.04013	0.001	T	0.74645	-0.3596	10	0.06891	T	0.86	-24.8054	18.267	0.90055	0.0:0.0:1.0:0.0	.	679	P51793	CLCN4_HUMAN	K	679;648;585	ENSP00000370213:E679K;ENSP00000370209:E648K;ENSP00000405754:E585K	ENSP00000370209:E648K	E	+	1	0	CLCN4	10148760	1.000000	0.71417	0.999000	0.59377	0.971000	0.66376	6.485000	0.73625	2.253000	0.74438	0.591000	0.81541	GAA		0.567	CLCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055730.1				109	35	0	0	0	0.01441	0	109	35		
XAGE5	170627	broad.mit.edu	37	X	52844174	52844174	+	Silent	SNP	C	C	T	rs146352090		TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chrX:52844174C>T	ENST00000375501.1	+	3	237	c.237C>T	c.(235-237)tgC>tgT	p.C79C	XAGE5_ENST00000425386.1_Silent_p.C79C|XAGE5_ENST00000351072.1_Silent_p.C79C|XAGE5_ENST00000445860.2_3'UTR|XAGE5_ENST00000375503.3_3'UTR			Q8WWM1	XAGE5_HUMAN	X antigen family, member 5	79										endometrium(1)|large_intestine(1)|lung(5)|ovary(1)	8						GGGATGAATGCGGAGATAGTC	0.438													.|||	22	0.00582781	0.0	0.0	3775	,	,		13398	0.0		0.0	False		,,,				2504	0.0225					uc004drd.1		NaN																	0				ovary(1)	1						c.(235-237)TGC>TGT		X antigen family, member 5		T		0,3835		0,0,1632,571	62.0	53.0	56.0		237	-1.4	0.0	X	dbSNP_134	56	2,6726		0,2,2426,1872	no	coding-synonymous	XAGE5	NM_130775.2		0,2,4058,2443	TT,TC,CC,C		0.0297,0.0,0.0189		79/109	52844174	2,10561	2203	4300	6503	SO:0001819	synonymous_variant	170627							g.chrX:52844174C>T	BC069129	CCDS14346.1	Xp11.23	2010-10-19		2005-01-27	ENSG00000171405	ENSG00000171405			30930	protein-coding gene	gene with protein product	"""cancer/testis antigen family 12, member 5"""		"""G antigen, family D, 5"""	GAGED5		12477932	Standard	NM_130775		Approved	XAGE-5, CT12.5	uc004drd.1	Q8WWM1	OTTHUMG00000021589	ENST00000375501.1:c.237C>T	X.37:g.52844174C>T							p.C79C	NM_130775	NP_570131	Q8WWM1	GAGD5_HUMAN			4	302	+			79					Q5JS81	Silent	SNP	ENST00000375501.1	37	c.237C>T	CCDS14346.1																																																																																				0.438	XAGE5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056689.1		NM_130775		26	47	0	0	0	0.008361	0	26	47		
MCL1	4170	broad.mit.edu	37	1	150551492	150551494	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr1:150551492_150551494delTCC	ENST00000369026.2	-	1	572_574	c.513_515delGGA	c.(511-516)gaggac>gac	p.E171del	MCL1_ENST00000464132.1_5'Flank|MCL1_ENST00000307940.3_In_Frame_Del_p.E171del	NM_001197320.1|NM_021960.4	NP_001184249.1|NP_068779.1	Q07820	MCL1_HUMAN	myeloid cell leukemia 1	171	PEST-like.				apoptotic mitochondrial changes (GO:0008637)|cell fate determination (GO:0001709)|cellular homeostasis (GO:0019725)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organismal development (GO:0007275)|negative regulation of anoikis (GO:2000811)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|protein transmembrane transport (GO:0071806)|regulation of response to DNA damage stimulus (GO:2001020)|response to cytokine (GO:0034097)	Bcl-2 family protein complex (GO:0097136)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	BH3 domain binding (GO:0051434)|protein channel activity (GO:0015266)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(2)|large_intestine(1)|lung(4)|prostate(1)	8	all_cancers(9;1.69e-53)|all_epithelial(9;1.95e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GTACAACTCGTCCTCCTCCTCCT	0.635																																						uc001euz.2		NaN																	0					0						c.(511-516)GAGGAC>GAC		myeloid cell leukemia sequence 1 isoform 1			,,	70,4190		29,12,2089					,,	1.0	1.0			54	109,8145		46,17,4064	no	coding,coding,intron	MCL1	NM_182763.2,NM_021960.4,NM_001197320.1	,,	75,29,6153	A1A1,A1R,RR		1.3206,1.6432,1.4304	,,	,,		179,12335				SO:0001651	inframe_deletion	4170				anti-apoptosis|apoptosis|cell fate determination|cellular homeostasis|multicellular organismal development|response to cytokine stimulus	integral to membrane|mitochondrial outer membrane|nucleoplasm	BH3 domain binding|protein binding|protein channel activity|protein heterodimerization activity	g.chr1:150551492_150551494delTCC	BC017197	CCDS956.1, CCDS957.1, CCDS72909.1	1q21	2014-03-07	2014-03-07		ENSG00000143384	ENSG00000143384			6943	protein-coding gene	gene with protein product		159552	"""myeloid cell leukemia sequence 1 (BCL2-related)"""			7682708, 7835896	Standard	NM_021960		Approved	BCL2L3, Mcl-1	uc001euz.3	Q07820	OTTHUMG00000034867	ENST00000369026.2:c.513_515delGGA	1.37:g.150551501_150551503delTCC	ENSP00000358022:p.Glu171del					MCL1_uc010pch.1_In_Frame_Del_p.E61del|MCL1_uc001eva.2_In_Frame_Del_p.E171del	p.E171del	NM_021960	NP_068779	Q07820	MCL1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		1	643_645	-	all_cancers(9;1.69e-53)|all_epithelial(9;1.95e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		171			PEST-like.		B2R6B2|D3DV03|D3DV04|Q9HD91|Q9NRQ3|Q9NRQ4|Q9UHR7|Q9UHR8|Q9UHR9|Q9UNJ1	In_Frame_Del	DEL	ENST00000369026.2	37	c.513_515delGGA	CCDS957.1																																																																																				0.635	MCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084402.1		NM_021960		7	192	NaN	NaN	NaN	NaN	NaN	7	192	---	---
TNR	7143	broad.mit.edu	37	1	175372615	175372615	+	Frame_Shift_Del	DEL	C	C	-			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr1:175372615delC	ENST00000367674.2	-	4	1345	c.637delG	c.(637-639)gtgfs	p.V213fs	TNR_ENST00000263525.2_Frame_Shift_Del_p.V213fs			Q92752	TENR_HUMAN	tenascin R	213	Cys-rich.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TCCACACACACCCCCCGGCTG	0.607																																						uc001gkp.1		NaN																	0				pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11						c.(637-639)GTGfs		tenascin R precursor							104.0	109.0	107.0					1																	175372615		2203	4300	6503	SO:0001589	frameshift_variant	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175372615delC	X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.637delG	1.37:g.175372615delC	ENSP00000356646:p.Val213fs					TNR_uc009wwu.1_Frame_Shift_Del_p.V213fs|TNR_uc010pmz.1_Frame_Shift_Del_p.V213fs	p.V213fs	NM_003285	NP_003276	Q92752	TENR_HUMAN			2	718	-	Renal(580;0.146)		213			Cys-rich.		C9J563|Q15568|Q5R3G0	Frame_Shift_Del	DEL	ENST00000367674.2	37	c.637delG	CCDS1318.1																																																																																				0.607	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4		NM_003285		7	611	NaN	NaN	NaN	NaN	NaN	7	611	---	---
CACNA1S	779	broad.mit.edu	37	1	201029886	201029886	+	Frame_Shift_Del	DEL	T	T	-			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr1:201029886delT	ENST00000362061.3	-	26	3540	c.3314delA	c.(3313-3315)aacfs	p.N1105fs	CACNA1S_ENST00000367338.3_Frame_Shift_Del_p.N1105fs	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1105					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CTGGTATGGGTTTTTGGGAAT	0.532																																						uc001gvv.2		NaN																	0				ovary(3)|central_nervous_system(1)|skin(1)	5						c.(3313-3315)AACfs		calcium channel, voltage-dependent, L type,	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						291.0	281.0	284.0					1																	201029886		2203	4300	6503	SO:0001589	frameshift_variant	779				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	g.chr1:201029886delT	L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.3314delA	1.37:g.201029886delT	ENSP00000355192:p.Asn1105fs						p.N1105fs	NM_000069	NP_000060	Q13698	CAC1S_HUMAN			26	3541	-			1105			Cytoplasmic (Potential).|IV.		A4IF51|B1ALM2|Q12896|Q13934	Frame_Shift_Del	DEL	ENST00000362061.3	37	c.3314delA	CCDS1407.1																																																																																				0.532	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1		NM_000069		7	785	NaN	NaN	NaN	NaN	NaN	7	785	---	---
ELF3	1999	broad.mit.edu	37	1	201981520	201981521	+	Frame_Shift_Ins	INS	-	-	G			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08			-	G	-	-		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr1:201981520_201981521insG	ENST00000359651.3	+	3	3626_3627	c.434_435insG	c.(433-438)aaggatfs	p.D146fs	RP11-510N19.5_ENST00000504773.1_RNA|ELF3_ENST00000367283.3_Frame_Shift_Ins_p.D146fs|ELF3_ENST00000367284.5_Frame_Shift_Ins_p.D146fs|ELF3_ENST00000495848.1_3'UTR|RP11-465N4.4_ENST00000419190.1_RNA					E74-like factor 3 (ets domain transcription factor, epithelial-specific )											breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						CTGCTGGAGAAGGATGGCATGG	0.579																																						uc001gxg.3		NaN																	0					0						c.(433-435)AAGfs		E74-like factor 3 (ets domain transcription																																				SO:0001589	frameshift_variant	1999				epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr1:201981520_201981521insG	AF016295	CCDS1419.1	1q32.2	2008-02-05			ENSG00000163435	ENSG00000163435			3318	protein-coding gene	gene with protein product		602191		ESX		9395241, 9129154	Standard	NM_001114309		Approved	EPR-1, ESE-1, ERT	uc001gxh.4	P78545	OTTHUMG00000035867	ENST00000359651.3:c.436dupG	1.37:g.201981522_201981522dupG	ENSP00000352673:p.Asp146fs					ELF3_uc001gxi.3_Frame_Shift_Ins_p.K145fs|ELF3_uc001gxh.3_Frame_Shift_Ins_p.K145fs	p.K145fs	NM_004433	NP_004424	P78545	ELF3_HUMAN			3	3626_3627	+			145			9aaTAD.			Frame_Shift_Ins	INS	ENST00000359651.3	37	c.434_435insG	CCDS1419.1																																																																																				0.579	ELF3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087360.1		NM_004433		25	184	NaN	NaN	NaN	NaN	NaN	25	184	---	---
KRT19	3880	broad.mit.edu	37	17	39681230	39681231	+	Frame_Shift_Ins	INS	-	-	AG			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr17:39681230_39681231insAG	ENST00000361566.3	-	3	584_585	c.524_525insCT	c.(523-525)ctgfs	p.L175fs	KRT15_ENST00000254043.3_5'Flank	NM_002276.4	NP_002267.2	P08727	K1C19_HUMAN	keratin 19	175	Coil 1B.|Rod.				cell differentiation involved in embryonic placenta development (GO:0060706)|response to estrogen (GO:0043627)|sarcomere organization (GO:0045214)|viral process (GO:0016032)	cell periphery (GO:0071944)|costamere (GO:0043034)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|sarcolemma (GO:0042383)|Z disc (GO:0030018)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	12		Breast(137;0.00038)				CGCTCATGCGCAGAGCCTGTTC	0.584																																						uc010wfs.1		NaN																	0				ovary(2)|lung(2)|breast(1)	5						c.(1012-1014)CTGfs		junction plakoglobin																																				SO:0001589	frameshift_variant	3728				adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity	g.chr17:39681230_39681231insAG		CCDS11399.1	17q21.2	2013-06-20			ENSG00000171345	ENSG00000171345		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6436	protein-coding gene	gene with protein product	"""keratin, type I cytoskeletal 19"", ""keratin, type I, 40-kd"", ""cytokeratin 19"", ""40-kDa keratin intermediate filament"""	148020				16831889	Standard	NM_002276		Approved	K19, CK19, K1CS, MGC15366		P08727	OTTHUMG00000133422	ENST00000361566.3:c.523_524dupCT	17.37:g.39681233_39681234dupAG	ENSP00000355124:p.Leu175fs					KRT19_uc002hxd.3_Frame_Shift_Ins_p.L175fs	p.L338fs	NM_021991	NP_068831	P14923	PLAK_HUMAN	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)	6	1021_1022	-		Breast(137;0.000162)	Error:Variant_position_missing_in_P14923_after_alignment					B2R874|Q5XG83|Q6NW33|Q7L5M9|Q96A53|Q96FV1|Q9BYF9|Q9P1Y4	Frame_Shift_Ins	INS	ENST00000361566.3	37	c.1013_1014insCT	CCDS11399.1																																																																																				0.584	KRT19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257285.1		NM_002276		77	120	NaN	NaN	NaN	NaN	NaN	77	120	---	---
ST6GALNAC1	55808	broad.mit.edu	37	17	74625715	74625716	+	Frame_Shift_Del	DEL	TG	TG	-	rs8081258	byFrequency	TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr17:74625715_74625716delTG	ENST00000156626.7	-	2	408_409	c.209_210delCA	c.(208-210)gcafs	p.A70fs	ST6GALNAC1_ENST00000590878.1_5'UTR	NM_018414.3	NP_060884.1	Q9NSC7	SIA7A_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1	70					oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						TTGTCCTCCTTGCCCTTGTGGG	0.535																																						uc002jsh.2		NaN																	0					0						c.(208-210)GCAfs		sialyltransferase 7A																																				SO:0001589	frameshift_variant	55808				protein glycosylation	integral to Golgi membrane	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity	g.chr17:74625715_74625716delTG	Y11339	CCDS11748.1	17q25.3	2013-03-01	2005-02-07	2005-02-07	ENSG00000070526	ENSG00000070526		"""Sialyltransferases"""	23614	protein-coding gene	gene with protein product		610138	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) A"""	SIAT7A			Standard	NM_001289107		Approved	ST6GalNAcI	uc002jsh.3	Q9NSC7	OTTHUMG00000180369	ENST00000156626.7:c.209_210delCA	17.37:g.74625715_74625716delTG	ENSP00000156626:p.Ala70fs					ST6GALNAC1_uc002jsi.2_5'UTR|ST6GALNAC1_uc002jsj.2_RNA	p.A70fs	NM_018414	NP_060884	Q9NSC7	SIA7A_HUMAN			2	383_384	-			70			Lumenal (Potential).		Q6UW90|Q9NSC6	Frame_Shift_Del	DEL	ENST00000156626.7	37	c.209_210delCA	CCDS11748.1																																																																																				0.535	ST6GALNAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450974.1		NM_018414		70	141	NaN	NaN	NaN	NaN	NaN	70	141	---	---
ZNF578	147660	broad.mit.edu	37	19	53014654	53014654	+	Frame_Shift_Del	DEL	G	G	-			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr19:53014654delG	ENST00000421239.2	+	6	1264	c.1020delG	c.(1018-1020)gagfs	p.E340fs	CTD-3099C6.5_ENST00000599143.1_RNA	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	340					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		ACACTGGTGAGAAACCTTACA	0.403																																						uc002pzp.3		NaN																	0					0						c.(1018-1020)GAGfs		zinc finger protein 578							100.0	105.0	103.0					19																	53014654		2203	4300	6503	SO:0001589	frameshift_variant	147660				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53014654delG	AK095562	CCDS54310.1	19q13.41	2013-09-20			ENSG00000258405	ENSG00000258405		"""Zinc fingers, C2H2-type"", ""-"""	26449	protein-coding gene	gene with protein product							Standard	NM_001099694		Approved	FLJ31384	uc002pzp.4	Q96N58	OTTHUMG00000156468	ENST00000421239.2:c.1020delG	19.37:g.53014654delG	ENSP00000459216:p.Glu340fs						p.E340fs	NM_001099694	NP_001093164	Q96N58	ZN578_HUMAN		GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)	6	1264	+			115					B4DR51|I3L1Y6	Frame_Shift_Del	DEL	ENST00000421239.2	37	c.1020delG	CCDS54310.1																																																																																				0.403	ZNF578-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344298.3		NM_152472		21	119	NaN	NaN	NaN	NaN	NaN	21	119	---	---
BPIFB4	149954	broad.mit.edu	37	20	31685499	31685501	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr20:31685499_31685501delAGA	ENST00000375483.3	+	11	1475_1477	c.1475_1477delAGA	c.(1474-1479)cagaag>cag	p.K493del		NM_182519.2	NP_872325.2	P59827	BPIB4_HUMAN	BPI fold containing family B, member 4	493						cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)	p.K454Q(1)									GTGATGCTGCAGAAGGACAAAGC	0.576																																						uc010zue.1		NaN																	1	Substitution - Missense(1)		large_intestine(1)		0						c.(1474-1479)CAGAAG>CAG		antimicrobial peptide RY2G5 precursor																																				SO:0001651	inframe_deletion	149954					cytoplasm|extracellular region	lipid binding	g.chr20:31685499_31685501delAGA	AF549190	CCDS13213.2	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186191	ENSG00000186191		"""BPI fold containing"""	16179	protein-coding gene	gene with protein product		615718	"""chromosome 20 open reading frame 186"""	C20orf186		11971875, 21787333	Standard	NM_182519		Approved	dJ726C3.5, LPLUNC4	uc010zue.2	P59827	OTTHUMG00000032235	ENST00000375483.3:c.1475_1477delAGA	20.37:g.31685499_31685501delAGA	ENSP00000364632:p.Lys493del						p.K493del	NM_182519	NP_872325	P59827	LPLC4_HUMAN			11	1490_1492	+			493					Q5TDX6	In_Frame_Del	DEL	ENST00000375483.3	37	c.1475_1477delAGA	CCDS13213.2																																																																																				0.576	BPIFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078655.5		NM_182519		28	140	NaN	NaN	NaN	NaN	NaN	28	140	---	---
FBLN2	2199	broad.mit.edu	37	3	13612699	13612701	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr3:13612699_13612701delGAG	ENST00000295760.7	+	2	913_915	c.844_846delGAG	c.(844-846)gagdel	p.E286del	FBLN2_ENST00000535798.1_In_Frame_Del_p.E312del|FBLN2_ENST00000404922.3_In_Frame_Del_p.E286del|FBLN2_ENST00000492059.1_In_Frame_Del_p.E286del	NM_001998.2	NP_001989.2	P98095	FBLN2_HUMAN	fibulin 2	286	N.|Subdomain NB (Cys-free).				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			ggaggaagaagaggaggaggagg	0.655																																						uc011avb.1		NaN																	0				ovary(1)	1						c.(844-846)GAGdel		fibulin 2 isoform b precursor																																				SO:0001651	inframe_deletion	2199					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr3:13612699_13612701delGAG	X82494	CCDS46761.1, CCDS46762.1	3p25-p24	2010-06-15			ENSG00000163520	ENSG00000163520		"""Fibulins"""	3601	protein-coding gene	gene with protein product		135821				7806230	Standard	NM_001165035		Approved		uc011ava.2	P98095	OTTHUMG00000155437	ENST00000295760.7:c.844_846delGAG	3.37:g.13612708_13612710delGAG	ENSP00000295760:p.Glu286del					FBLN2_uc011auz.1_In_Frame_Del_p.E312del|FBLN2_uc011ava.1_In_Frame_Del_p.E286del|FBLN2_uc011avc.1_In_Frame_Del_p.E286del	p.E286del	NM_001998	NP_001989	P98095	FBLN2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)		2	969_971	+			286			Subdomain NB (Cys-free).|N.		B7Z9C5|Q8IUI0|Q8IUI1	In_Frame_Del	DEL	ENST00000295760.7	37	c.844_846delGAG	CCDS46762.1																																																																																				0.655	FBLN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000340083.3		NM_001004019		7	350	NaN	NaN	NaN	NaN	NaN	7	350	---	---
MAP4	4134	broad.mit.edu	37	3	47913557	47913558	+	In_Frame_Ins	INS	-	-	CCG			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr3:47913557_47913558insCCG	ENST00000360240.6	-	11	2873_2874	c.2355_2356insCGG	c.(2353-2358)cgggcc>cggCGGgcc	p.785_786insR	MAP4_ENST00000383737.4_In_Frame_Ins_p.513_514insR|MAP4_ENST00000441748.2_5'UTR|MAP4_ENST00000395734.3_In_Frame_Ins_p.785_786insR|MAP4_ENST00000420772.2_In_Frame_Ins_p.536_537insR|MAP4_ENST00000426837.2_In_Frame_Ins_p.1930_1931insR|MAP4_ENST00000264724.11_In_Frame_Ins_p.520_521insR|MAP4_ENST00000462206.1_5'UTR	NM_002375.4	NP_002366.2	P27816	MAP4_HUMAN	microtubule-associated protein 4	785					cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|microtubule sliding (GO:0051012)|mitotic spindle organization (GO:0007052)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|mitotic spindle (GO:0072686)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)	Docetaxel(DB01248)|Paclitaxel(DB01229)	GATGGTGAGGCCCGCTTCTCAG	0.55																																						uc003csb.2		NaN																	0				ovary(2)|pancreas(1)	3						c.(2353-2358)insCGG		microtubule-associated protein 4 isoform 1																																				SO:0001652	inframe_insertion	4134				negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr3:47913557_47913558insCCG		CCDS33750.1, CCDS46818.1, CCDS46821.1	3p21	2008-07-18			ENSG00000047849	ENSG00000047849			6862	protein-coding gene	gene with protein product		157132				1905296	Standard	NM_002375		Approved		uc003csb.2	P27816	OTTHUMG00000156828	ENST00000360240.6:c.2353_2355dupCGG	3.37:g.47913558_47913560dupCCG	ENSP00000353375:p.Arg785_Arg785dup					MAP4_uc003csc.3_In_Frame_Ins_p.785_786insR|MAP4_uc003crw.2_5'Flank|MAP4_uc003crx.2_In_Frame_Ins_p.45_46insR|MAP4_uc011bbe.1_In_Frame_Ins_p.536_537insR|MAP4_uc003cry.2_In_Frame_Ins_p.520_521insR|MAP4_uc003csa.3_In_Frame_Ins_p.520_521insR|MAP4_uc003crz.3_RNA|MAP4_uc003csd.2_In_Frame_Ins_p.520_521insR	p.785_786insR	NM_002375	NP_002366	P27816	MAP4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)	11	2881_2882	-			785_786					Q13082|Q59FT2|Q68D74|Q6ZUW9|Q86V26|Q96A76|Q96NS9	In_Frame_Ins	INS	ENST00000360240.6	37	c.2355_2356insCGG	CCDS33750.1																																																																																				0.550	MAP4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346085.1		NM_002375		74	256	NaN	NaN	NaN	NaN	NaN	74	256	---	---
FGFRL1	53834	broad.mit.edu	37	4	1019055	1019056	+	Frame_Shift_Del	DEL	CA	CA	-	rs571486674|rs145808953		TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr4:1019055_1019056delCA	ENST00000398484.2	+	8	2015_2016	c.1435_1436delCA	c.(1435-1437)cacfs	p.H479fs	RP11-460I19.2_ENST00000503095.1_lincRNA|FGFRL1_ENST00000264748.6_Frame_Shift_Del_p.H479fs|FGFRL1_ENST00000510644.1_Frame_Shift_Del_p.H479fs|FGFRL1_ENST00000504138.1_Frame_Shift_Del_p.H479fs			Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1	479	His-rich.				diaphragm development (GO:0060539)|heart valve morphogenesis (GO:0003179)|negative regulation of cell proliferation (GO:0008285)|skeletal system development (GO:0001501)|ventricular septum morphogenesis (GO:0060412)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			cacagacatccacacacacaca	0.584																																						uc003gce.2		NaN																	0					0						c.(1435-1437)CACfs		fibroblast growth factor receptor-like 1																																				SO:0001589	frameshift_variant	53834				regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding	g.chr4:1019055_1019056delCA		CCDS3344.1	4p16	2013-01-11			ENSG00000127418	ENSG00000127418		"""Immunoglobulin superfamily / I-set domain containing"""	3693	protein-coding gene	gene with protein product		605830					Standard	NM_021923		Approved		uc003gcg.3	Q8N441	OTTHUMG00000118998	ENST00000398484.2:c.1435_1436delCA	4.37:g.1019065_1019066delCA	ENSP00000381498:p.His479fs					FGFRL1_uc003gcf.2_Frame_Shift_Del_p.H479fs|FGFRL1_uc003gcg.2_Frame_Shift_Del_p.H479fs|FGFRL1_uc010ibo.2_Frame_Shift_Del_p.H479fs	p.H479fs	NM_021923	NP_068742	Q8N441	FGRL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		7	1596_1597	+			479			His-rich.|Cytoplasmic (Potential).		B2RAU9|Q6PJN1|Q9BXN7|Q9H4D7	Frame_Shift_Del	DEL	ENST00000398484.2	37	c.1435_1436delCA	CCDS3344.1																																																																																				0.584	FGFRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239195.2		NM_021923		5	10	NaN	NaN	NaN	NaN	NaN	5	10	---	---
RRP36	88745	broad.mit.edu	37	6	42989434	42989451	+	In_Frame_Del	DEL	CGGGGCCCGACGTCCCCG	CGGGGCCCGACGTCCCCG	-	rs564567932|rs202053592	byFrequency	TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr6:42989434_42989451delCGGGGCCCGACGTCCCCG	ENST00000244496.5	+	1	52_69	c.42_59delCGGGGCCCGACGTCCCCG	c.(40-60)gccggggcccgacgtccccgc>gcc	p.GARRPR15del		NM_033112.2	NP_149103.1	Q96EU6	RRP36_HUMAN	ribosomal RNA processing 36 homolog (S. cerevisiae)	15					ribosomal small subunit biogenesis (GO:0042274)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1)	11						gggccggggccggggcccgacgtccccgcggggcccgg	0.784														43	0.00858626	0.0	0.0447	5008	,	,		9842	0.0089		0.002	False		,,,				2504	0.001					uc003otp.1		NaN																	0					0						c.(40-60)GCCGGGGCCCGACGTCCCCGC>GCC		hypothetical protein LOC88745				3,1373		1,1,686						3.5	0.0		dbSNP_129	3	28,2930		7,14,1458	no	coding	RRP36	NM_033112.2		8,15,2144	A1A1,A1R,RR		0.9466,0.218,0.7153				31,4303				SO:0001651	inframe_deletion	88745				ribosomal small subunit biogenesis|rRNA processing	nucleolus		g.chr6:42989434_42989451delCGGGGCCCGACGTCCCCG	BC011933	CCDS34453.1	6p21.1	2010-07-06	2010-07-06	2010-07-06	ENSG00000124541	ENSG00000124541			21374	protein-coding gene	gene with protein product		613475	"""chromosome 6 open reading frame 153"""	C6orf153		20038530	Standard	NM_033112		Approved	dJ20C7.4	uc003otp.1	Q96EU6	OTTHUMG00000014715	ENST00000244496.5:c.42_59delCGGGGCCCGACGTCCCCG	6.37:g.42989434_42989451delCGGGGCCCGACGTCCCCG	ENSP00000244496:p.Gly15_Arg20del						p.GARRPR15del	NM_033112	NP_149103	Q96EU6	RRP36_HUMAN	Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)		1	50_67	+			15_20					Q9BRF6|Q9P0C8	In_Frame_Del	DEL	ENST00000244496.5	37	c.42_59delCGGGGCCCGACGTCCCCG	CCDS34453.1																																																																																				0.784	RRP36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040572.1		NM_033112		3	3	NaN	NaN	NaN	NaN	NaN	3	3	---	---
THSD7A	221981	broad.mit.edu	37	7	11871469	11871470	+	In_Frame_Ins	INS	-	-	GCAGCG	rs559389570|rs536177295	byFrequency	TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr7:11871469_11871470insGCAGCG	ENST00000423059.4	-	1	354_355	c.103_104insCGCTGC	c.(103-105)ctc>cCGCTGCtc	p.34_35insPL		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	34					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		cagcagcaggagcagcggcagc	0.772										HNSCC(18;0.044)																												uc003ssf.3		NaN																	0				ovary(3)	3						c.(103-105)CTC>CCGCTGCTC		thrombospondin, type I, domain containing 7A																																				SO:0001652	inframe_insertion	221981					integral to membrane		g.chr7:11871469_11871470insGCAGCG		CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.98_103dupCGCTGC	7.37:g.11871470_11871475dupGCAGCG	ENSP00000406482:p.Pro33_Leu34dup	HNSCC(18;0.044)					p.34_35insPL	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	1	355_356	-			34_35						In_Frame_Ins	INS	ENST00000423059.4	37	c.103_104insCGCTGC	CCDS47543.1																																																																																				0.772	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4		XM_928187.2		4	8	NaN	NaN	NaN	NaN	NaN	4	8	---	---
