#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
ARHGAP33	115703	broad.mit.edu	37	19	36279204	36279204	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr19:36279204G>C	ENST00000007510.4	+	21	3881	c.3737G>C	c.(3736-3738)gGc>gCc	p.G1246A	AC002398.5_ENST00000433059.1_lincRNA|ARHGAP33_ENST00000314737.5_Missense_Mutation_p.G1085A|ARHGAP33_ENST00000378944.5_Missense_Mutation_p.G1082A			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	1246					protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|Rac GTPase activator activity (GO:0030675)			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						GGAAGGGGGGGCGAGCTCCAC	0.692																																						ENST00000007510.4																			0				endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						c.(3736-3738)gGc>gCc		Rho GTPase activating protein 33							10.0	13.0	12.0					19																	36279204		2096	4123	6219	SO:0001583	missense	115703				cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding	g.chr19:36279204G>C	AY044864	CCDS12477.1, CCDS54254.1	19q13.13	2011-06-29	2010-02-19	2010-02-19		ENSG00000004777		"""Rho GTPase activating proteins"""	23085	protein-coding gene	gene with protein product		614902	"""sorting nexin 26"""	SNX26		12297274, 12461558	Standard	NM_052948		Approved	FLJ39019, TCGAP	uc002obs.2	O14559		ENST00000007510.4:c.3737G>C	19.37:g.36279204G>C	ENSP00000007510:p.Gly1246Ala					ARHGAP33_ENST00000314737.5_Missense_Mutation_p.G1085A|ARHGAP33_ENST00000378944.5_Missense_Mutation_p.G1082A	p.G1246A			O14559	RHG33_HUMAN			21	3881	+			1246					O14552|O14560|Q6ZSP6|Q96CP3|Q9NT23	Missense_Mutation	SNP	ENST00000007510.4	37	c.3737G>C		.	.	.	.	.	.	.	.	.	.	g	8.877	0.950691	0.18431	.	.	ENSG00000004777	ENST00000007510;ENST00000314737;ENST00000378944	T;T;T	0.11712	3.21;2.75;2.89	4.41	2.04	0.26737	.	0.000000	0.42548	D	0.000684	T	0.05227	0.0139	N	0.19112	0.55	0.09310	N	1	B;B	0.18741	0.03;0.03	B;B	0.15484	0.013;0.013	T	0.39542	-0.9609	10	0.15952	T	0.53	.	4.7757	0.13178	0.2051:0.2876:0.5073:0.0	.	1082;1085	O14559-10;O14559-11	.;.	A	1246;1085;1082	ENSP00000007510:G1246A;ENSP00000320038:G1085A;ENSP00000368227:G1082A	ENSP00000007510:G1246A	G	+	2	0	ARHGAP33	40971044	0.030000	0.19436	0.470000	0.27216	0.907000	0.53573	1.249000	0.32839	0.983000	0.38602	0.401000	0.26515	GGC		0.692	ARHGAP33-201	KNOWN	basic	protein_coding	protein_coding		NM_052948		3	14	0	0	0	1	0	3	14				
SCRIB	23513	broad.mit.edu	37	8	144891092	144891092	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr8:144891092C>T	ENST00000320476.3	-	15	1808	c.1802G>A	c.(1801-1803)cGg>cAg	p.R601Q	SCRIB_ENST00000377533.3_Missense_Mutation_p.R520Q|SCRIB_ENST00000356994.2_Missense_Mutation_p.R601Q	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	601	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GCGGATGAGCCGCTGCCTCCC	0.647																																					Pancreas(51;966 1133 10533 14576 29674)	ENST00000356994.2																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42						c.(1801-1803)cGg>cAg		scribbled planar cell polarity protein							80.0	82.0	81.0					8																	144891092		2203	4300	6503	SO:0001583	missense	23513				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding	g.chr8:144891092C>T	AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"""scribbled homolog (Drosophila)"""			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.1802G>A	8.37:g.144891092C>T	ENSP00000322938:p.Arg601Gln					SCRIB_ENST00000320476.3_Missense_Mutation_p.R601Q|SCRIB_ENST00000377533.3_Missense_Mutation_p.R520Q	p.R601Q	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)		15	1808	-	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		601			Sufficient for targeting to adherens junction and to inhibit cell proliferation.		Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Missense_Mutation	SNP	ENST00000320476.3	37	c.1802G>A	CCDS6411.1	.	.	.	.	.	.	.	.	.	.	c	35	5.553930	0.96501	.	.	ENSG00000180900	ENST00000356994;ENST00000320476;ENST00000377533	T;T;T	0.49432	1.02;0.99;0.78	4.79	4.79	0.61399	.	.	.	.	.	T	0.67841	0.2936	M	0.71036	2.16	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	T	0.69308	-0.5179	9	0.45353	T	0.12	.	16.8367	0.85958	0.0:1.0:0.0:0.0	.	601;601	Q14160;Q14160-3	SCRIB_HUMAN;.	Q	601;601;520	ENSP00000349486:R601Q;ENSP00000322938:R601Q;ENSP00000366756:R520Q	ENSP00000322938:R601Q	R	-	2	0	SCRIB	144963080	1.000000	0.71417	0.940000	0.37924	0.922000	0.55478	7.434000	0.80377	2.225000	0.72522	0.401000	0.26515	CGG		0.647	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000382215.1	NM_015356		51	66	0	0	0	1	0	51	66				
SPATA31D5P	347127	broad.mit.edu	37	9	84532854	84532854	+	RNA	SNP	C	C	T			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr9:84532854C>T	ENST00000527857.1	+	0	2876					NR_026851.1				SPATA31 subfamily D, member 5, pseudogene																		TTTCTACCTTCCCTCCTCAGC	0.443																																						ENST00000527857.1																			0																																																			347127							g.chr9:84532854C>T			9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000240632	ENSG00000240632			38602	pseudogene	pseudogene			"""family with sequence similarity 75, member D5"", ""family with sequence similarity 75, member D5, pseudogene"""	FAM75D5			Standard	NR_026851		Approved	FLJ43950, FAM75D5P	uc011lst.2		OTTHUMG00000020087		9.37:g.84532854C>T								NR_026851.1						0	2876	+									RNA	SNP	ENST00000527857.1	37																																																																																						0.443	SPATA31D5P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000052810.2	NR_026851		10	7	0	0	0	1	0	10	7				
HELZ	9931	broad.mit.edu	37	17	65116533	65116533	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr17:65116533G>A	ENST00000358691.5	-	27	3992	c.3826C>T	c.(3826-3828)Caa>Taa	p.Q1276*	HELZ_ENST00000580168.1_Nonsense_Mutation_p.Q1277*	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	1276						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					TTTCGATTTTGCTCATGTTGA	0.428																																						ENST00000358691.5																			0				NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(3826-3828)Caa>Taa		helicase with zinc finger							253.0	219.0	230.0					17																	65116533		1995	4186	6181	SO:0001587	stop_gained	9931							g.chr17:65116533G>A	D29677	CCDS42374.1	17q24.2	2013-01-18			ENSG00000198265	ENSG00000198265		"""Zinc fingers, CCCH-type domain containing"""	16878	protein-coding gene	gene with protein product	"""down-regulated in human cancers"""	606699				10471385, 12691822	Standard	NM_014877		Approved	KIAA0054, HUMORF5, DHRC	uc002jfx.4	P42694	OTTHUMG00000179555	ENST00000358691.5:c.3826C>T	17.37:g.65116533G>A	ENSP00000351524:p.Gln1276*					HELZ_ENST00000580168.1_Nonsense_Mutation_p.Q1277*	p.Q1276*	NM_014877.3	NP_055692.2					27	3992	-	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)							I6L9H4	Nonsense_Mutation	SNP	ENST00000358691.5	37	c.3826C>T	CCDS42374.1	.	.	.	.	.	.	.	.	.	.	G	41	8.752160	0.98939	.	.	ENSG00000198265	ENST00000358691	.	.	.	5.78	4.81	0.61882	.	0.213140	0.50627	D	0.000111	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-2.2834	16.3218	0.82953	0.0:0.0:0.8668:0.1332	.	.	.	.	X	1276	.	ENSP00000351524:Q1276X	Q	-	1	0	HELZ	62546995	1.000000	0.71417	0.156000	0.22583	0.225000	0.24961	8.898000	0.92538	1.435000	0.47434	-0.169000	0.13324	CAA		0.428	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000447068.1	NM_014877		19	44	0	0	0	1	0	19	44				
TSC2	7249	broad.mit.edu	37	16	2127694	2127694	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr16:2127694G>A	ENST00000219476.3	+	26	3563	c.2933G>A	c.(2932-2934)cGc>cAc	p.R978H	TSC2_ENST00000350773.4_Missense_Mutation_p.R978H|TSC2_ENST00000382538.6_Intron|TSC2_ENST00000353929.4_Intron|TSC2_ENST00000568454.1_Intron|TSC2_ENST00000439673.2_Intron|TSC2_ENST00000568366.1_3'UTR|TSC2_ENST00000401874.2_Intron	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	978					acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				TTCCGGTGCCGCAGCATCAGT	0.607			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																													ENST00000219476.3			yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	"""D, Mis, N, F, S"""	tuberous sclerosis 2 gene			"""E, O"""		"""hamartoma, renal cell"""			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56						c.(2932-2934)cGc>cAc		tuberous sclerosis 2							68.0	66.0	66.0					16																	2127694		2198	4298	6496	SO:0001583	missense	7249	Tuberous Sclerosis	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity	g.chr16:2127694G>A	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 160"""	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.2933G>A	16.37:g.2127694G>A	ENSP00000219476:p.Arg978His					TSC2_ENST00000401874.2_Intron|TSC2_ENST00000353929.4_Intron|TSC2_ENST00000350773.4_Missense_Mutation_p.R978H|TSC2_ENST00000568366.1_3'UTR|TSC2_ENST00000439673.2_Intron|TSC2_ENST00000568454.1_Intron|TSC2_ENST00000382538.6_Intron	p.R978H	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN			26	3563	+		Hepatocellular(780;0.0202)	978					A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Missense_Mutation	SNP	ENST00000219476.3	37	c.2933G>A	CCDS10458.1	.	.	.	.	.	.	.	.	.	.	G	18.74	3.688032	0.68271	.	.	ENSG00000103197	ENST00000219476;ENST00000350773	D;D	0.93604	-3.25;-3.17	5.02	4.05	0.47172	.	0.056249	0.64402	N	0.000001	D	0.91140	0.7210	L	0.54323	1.7	0.80722	D	1	B;B	0.23442	0.085;0.033	B;B	0.24701	0.055;0.012	D	0.88509	0.3088	10	0.56958	D	0.05	-20.9918	13.802	0.63206	0.0749:0.0:0.9251:0.0	.	978;978	P49815-4;P49815	.;TSC2_HUMAN	H	978	ENSP00000219476:R978H;ENSP00000344383:R978H	ENSP00000219476:R978H	R	+	2	0	TSC2	2067695	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.929000	0.87595	1.103000	0.41568	0.655000	0.94253	CGC		0.607	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	NM_000548		18	83	0	0	0	1	0	18	83				
PCSK5	5125	broad.mit.edu	37	9	78799654	78799654	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr9:78799654G>A	ENST00000545128.1	+	17	2801	c.2263G>A	c.(2263-2265)Gaa>Aaa	p.E755K	PCSK5_ENST00000376752.4_Missense_Mutation_p.E755K	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	755	CRM (Cys-rich motif).				anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						TAACTGTACAGAATGTAGGGA	0.338																																						ENST00000545128.1																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						c.(2263-2265)Gaa>Aaa		proprotein convertase subtilisin/kexin type 5							75.0	73.0	73.0					9																	78799654		2203	4300	6503	SO:0001583	missense	5125				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity	g.chr9:78799654G>A		CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.2263G>A	9.37:g.78799654G>A	ENSP00000446280:p.Glu755Lys					PCSK5_ENST00000376752.4_Missense_Mutation_p.E755K	p.E755K	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN			17	2801	+			755			CRM (Cys-rich motif).		F5H2G7|Q13527|Q96EP4	Missense_Mutation	SNP	ENST00000545128.1	37	c.2263G>A	CCDS55320.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.909841	0.92107	.	.	ENSG00000099139	ENST00000545128;ENST00000376754;ENST00000376752;ENST00000424854	T;T;T	0.62364	0.04;1.59;0.03	5.58	5.58	0.84498	Growth factor, receptor (2);	0.000000	0.85682	D	0.000000	T	0.69842	0.3156	L	0.45051	1.395	0.80722	D	1	D;D	0.54047	0.959;0.964	P;P	0.55713	0.782;0.713	T	0.69146	-0.5222	10	0.48119	T	0.1	-24.6792	19.5751	0.95439	0.0:0.0:1.0:0.0	.	755;755	Q92824;Q92824-2	PCSK5_HUMAN;.	K	755;458;755;428	ENSP00000446280:E755K;ENSP00000365943:E755K;ENSP00000411654:E428K	ENSP00000365943:E755K	E	+	1	0	PCSK5	77989474	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.863000	0.92288	2.642000	0.89623	0.561000	0.74099	GAA		0.338	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				8	31	0	0	0	1	0	8	31				
RAD51AP2	729475	broad.mit.edu	37	2	17696515	17696515	+	Silent	SNP	A	A	G			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr2:17696515A>G	ENST00000399080.2	-	1	3191	c.3168T>C	c.(3166-3168)aaT>aaC	p.N1056N		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	1056										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CCTGTTCTCCATTATTGGGTA	0.353																																						ENST00000399080.2																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(3166-3168)aaT>aaC		RAD51 associated protein 2							107.0	98.0	101.0					2																	17696515		1828	4075	5903	SO:0001819	synonymous_variant	729475							g.chr2:17696515A>G	AK310498	CCDS42656.1	2p24.2	2009-01-13			ENSG00000214842	ENSG00000214842			34417	protein-coding gene	gene with protein product						16990250	Standard	NM_001099218		Approved	FLJ17540	uc002rcl.1	Q09MP3	OTTHUMG00000151761	ENST00000399080.2:c.3168T>C	2.37:g.17696515A>G							p.N1056N	NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN			1	3191	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		1056						Silent	SNP	ENST00000399080.2	37	c.3168T>C	CCDS42656.1																																																																																				0.353	RAD51AP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323801.3	NM_001099218		13	18	0	0	0	1	0	13	18				
S100A4	6275	broad.mit.edu	37	1	153516297	153516297	+	Missense_Mutation	SNP	T	T	C			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr1:153516297T>C	ENST00000368716.4	-	3	391	c.244A>G	c.(244-246)Atc>Gtc	p.I82V	S100A4_ENST00000368714.1_Missense_Mutation_p.I82V|S100A5_ENST00000368718.1_5'Flank|S100A4_ENST00000354332.4_Missense_Mutation_p.I82V|S100A5_ENST00000359215.1_5'Flank|S100A4_ENST00000481009.1_5'UTR|S100A4_ENST00000368715.1_Missense_Mutation_p.I82V	NM_002961.2	NP_002952.1	P26447	S10A4_HUMAN	S100 calcium binding protein A4	82	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				epithelial to mesenchymal transition (GO:0001837)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)|RAGE receptor binding (GO:0050786)			large_intestine(2)|lung(1)|prostate(1)	4	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)		Trifluoperazine(DB00831)	ATCATGGCGATGCAGGACAGG	0.507																																						ENST00000368716.4																			0				large_intestine(2)|lung(1)|prostate(1)	4						c.(244-246)Atc>Gtc		S100 calcium binding protein A4							235.0	214.0	221.0					1																	153516297		2203	4300	6503	SO:0001583	missense	6275				epithelial to mesenchymal transition|positive regulation of I-kappaB kinase/NF-kappaB cascade	nucleus|perinuclear region of cytoplasm	calcium ion binding|RAGE receptor binding	g.chr1:153516297T>C	BC016300	CCDS1042.1	1q12-q22	2013-01-10	2006-09-11		ENSG00000196154	ENSG00000196154		"""S100 calcium binding proteins"", ""EF-hand domain containing"""	10494	protein-coding gene	gene with protein product	"""fibroblast-specific protein-1"""	114210	"""S100 calcium-binding protein A4 (calcium protein, calvasculin, metastasin, murine placental homolog)"", ""S100 calcium binding protein A4 (calcium protein, calvasculin, metastasin, murine placental homolog)"""	MTS1, CAPL		3155863	Standard	NM_019554		Approved	P9KA, 18A2, PEL98, 42A, FSP1	uc001fbz.3	P26447	OTTHUMG00000013546	ENST00000368716.4:c.244A>G	1.37:g.153516297T>C	ENSP00000357705:p.Ile82Val					S100A4_ENST00000481009.1_5'UTR|S100A4_ENST00000368714.1_Missense_Mutation_p.I82V|S100A4_ENST00000354332.4_Missense_Mutation_p.I82V|S100A4_ENST00000368715.1_Missense_Mutation_p.I82V	p.I82V	NM_002961.2	NP_002952.1	P26447	S10A4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		3	391	-	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		82			EF-hand 2.		A8K7R8|D3DV46|Q6ICP8	Missense_Mutation	SNP	ENST00000368716.4	37	c.244A>G	CCDS1042.1	.	.	.	.	.	.	.	.	.	.	T	12.50	1.958076	0.34565	.	.	ENSG00000196154	ENST00000368715;ENST00000354332;ENST00000368716;ENST00000368714;ENST00000545360	T;T;T;T	0.13089	2.62;2.62;2.62;2.62	4.86	2.52	0.30459	EF-hand-like domain (1);	0.216232	0.39544	N	0.001326	T	0.01627	0.0052	N	0.02775	-0.495	0.38795	D	0.95507	B	0.02656	0.0	B	0.04013	0.001	T	0.37079	-0.9721	10	0.37606	T	0.19	.	5.4592	0.16607	0.0:0.2371:0.0:0.7629	.	82	P26447	S10A4_HUMAN	V	82;82;82;82;71	ENSP00000357704:I82V;ENSP00000346294:I82V;ENSP00000357705:I82V;ENSP00000357703:I82V	ENSP00000346294:I82V	I	-	1	0	S100A4	151782921	0.999000	0.42202	1.000000	0.80357	0.988000	0.76386	0.759000	0.26461	0.702000	0.31825	0.459000	0.35465	ATC		0.507	S100A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037714.1	NM_002961		52	133	0	0	0	1	0	52	133				
TRPM5	29850	broad.mit.edu	37	11	2433998	2433998	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr11:2433998C>T	ENST00000155858.6	-	15	2349	c.2341G>A	c.(2341-2343)Gag>Aag	p.E781K	TRPM5_ENST00000533060.1_Missense_Mutation_p.E781K|TRPM5_ENST00000452833.1_Missense_Mutation_p.E783K|TRPM5_ENST00000528453.1_Missense_Mutation_p.E781K	NM_014555.3	NP_055370.1			transient receptor potential cation channel, subfamily M, member 5											breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		CGGATTTCCTCCAGCACCAGC	0.652																																					NSCLC(1;49 61 17205 18850 43201)	ENST00000452833.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23						c.(2347-2349)Gag>Aag		transient receptor potential cation channel, subfamily M, member 5							20.0	19.0	19.0					11																	2433998		2193	4295	6488	SO:0001583	missense	29850					integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity	g.chr11:2433998C>T	AF177473	CCDS31340.1	11p15.5	2011-12-14			ENSG00000070985	ENSG00000070985		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	14323	protein-coding gene	gene with protein product		604600				10607831, 16382100	Standard	NM_014555		Approved	LTRPC5, MTR1	uc001lwm.4	Q9NZQ8	OTTHUMG00000009896	ENST00000155858.6:c.2341G>A	11.37:g.2433998C>T	ENSP00000155858:p.Glu781Lys					TRPM5_ENST00000528453.1_Missense_Mutation_p.E781K|TRPM5_ENST00000533060.1_Missense_Mutation_p.E781K|TRPM5_ENST00000155858.6_Missense_Mutation_p.E781K	p.E783K			Q9NZQ8	TRPM5_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)	15	2355	-		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)	781						Missense_Mutation	SNP	ENST00000155858.6	37	c.2347G>A	CCDS31340.1	.	.	.	.	.	.	.	.	.	.	C	19.23	3.787850	0.70337	.	.	ENSG00000070985	ENST00000533881;ENST00000155858;ENST00000452833;ENST00000533060;ENST00000528453;ENST00000437542	T;T;T;T;T	0.70282	-0.47;-0.47;-0.47;-0.47;-0.47	4.37	4.37	0.52481	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.85708	0.5759	M	0.86864	2.845	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77557	0.986;0.986;0.99	D	0.88930	0.3372	10	0.87932	D	0	-29.9128	16.2634	0.82562	0.0:1.0:0.0:0.0	.	781;783;781	E9PRW0;Q9NZQ8-2;Q9NZQ8	.;.;TRPM5_HUMAN	K	775;781;783;781;781;781	ENSP00000434383:E775K;ENSP00000155858:E781K;ENSP00000387965:E783K;ENSP00000434121:E781K;ENSP00000436809:E781K	ENSP00000155858:E781K	E	-	1	0	TRPM5	2390574	1.000000	0.71417	1.000000	0.80357	0.167000	0.22549	5.621000	0.67743	2.151000	0.67156	0.561000	0.74099	GAG		0.652	TRPM5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000027378.1	NM_014555		9	8	0	0	0	1	0	9	8				
NELL1	4745	broad.mit.edu	37	11	21592399	21592399	+	Silent	SNP	C	C	T			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr11:21592399C>T	ENST00000357134.5	+	18	2222	c.2070C>T	c.(2068-2070)gtC>gtT	p.V690V	NELL1_ENST00000298925.5_Silent_p.V718V|NELL1_ENST00000325319.5_Silent_p.V633V|NELL1_ENST00000529218.1_3'UTR|NELL1_ENST00000532434.1_Silent_p.V643V	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	690					cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|nervous system development (GO:0007399)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						ACACCAGAGTCACAAGTCAAT	0.468																																						ENST00000298925.5																			0				NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						c.(2152-2154)gtC>gtT		NEL-like 1 (chicken)							182.0	165.0	171.0					11																	21592399		2203	4300	6503	SO:0001819	synonymous_variant	4745				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity	g.chr11:21592399C>T	AK127805	CCDS7855.1, CCDS44555.1, CCDS73267.1, CCDS73268.1	11p15.1	2008-02-01	2001-11-28		ENSG00000165973	ENSG00000165973			7750	protein-coding gene	gene with protein product		602319	"""nel (chicken)-like 1"""			8975702	Standard	NM_006157		Approved	IDH3GL, FLJ45906	uc001mqe.3	Q92832	OTTHUMG00000166042	ENST00000357134.5:c.2070C>T	11.37:g.21592399C>T						NELL1_ENST00000357134.5_Silent_p.V690V|NELL1_ENST00000529218.1_3'UTR|NELL1_ENST00000325319.5_Silent_p.V633V|NELL1_ENST00000532434.1_Silent_p.V643V	p.V718V			Q92832	NELL1_HUMAN			19	2307	+			690			VWFC 4.		B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Silent	SNP	ENST00000357134.5	37	c.2154C>T	CCDS7855.1																																																																																				0.468	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387588.1	NM_006157		37	113	0	0	0	1	0	37	113				
CACNG4	27092	broad.mit.edu	37	17	65026799	65026799	+	Silent	SNP	C	C	T			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr17:65026799C>T	ENST00000262138.3	+	4	665	c.663C>T	c.(661-663)ttC>ttT	p.F221F	AC005544.1_ENST00000375684.1_5'Flank|RP11-74H8.1_ENST00000579138.1_RNA	NM_014405.3	NP_055220.1	Q9UBN1	CCG4_HUMAN	calcium channel, voltage-dependent, gamma subunit 4	221					membrane depolarization (GO:0051899)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3)	19	all_cancers(12;9.86e-11)		BRCA - Breast invasive adenocarcinoma(6;1.35e-07)			AACGGGAATTCCTTAAGGCGT	0.532																																						ENST00000262138.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3)	19						c.(661-663)ttC>ttT		calcium channel, voltage-dependent, gamma subunit 4							80.0	84.0	83.0					17																	65026799		2203	4300	6503	SO:0001819	synonymous_variant	27092				membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane	voltage-gated calcium channel activity	g.chr17:65026799C>T	AH008289	CCDS11667.1	17q24	2006-01-23				ENSG00000075461		"""Calcium channel subunits"""	1408	protein-coding gene	gene with protein product		606404				10613843	Standard	NM_014405		Approved	MGC11138, MGC24983	uc002jft.2	Q9UBN1		ENST00000262138.3:c.663C>T	17.37:g.65026799C>T							p.F221F	NM_014405.3	NP_055220.1	Q9UBN1	CCG4_HUMAN	BRCA - Breast invasive adenocarcinoma(6;1.35e-07)		4	665	+	all_cancers(12;9.86e-11)		221					B2RCK0	Silent	SNP	ENST00000262138.3	37	c.663C>T	CCDS11667.1																																																																																				0.532	CACNG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447036.1	NM_014405		54	74	0	0	0	1	0	54	74				
TADA3	10474	broad.mit.edu	37	3	9831513	9831513	+	Silent	SNP	C	C	T			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr3:9831513C>T	ENST00000301964.2	-	3	900	c.342G>A	c.(340-342)ccG>ccA	p.P114P	ARPC4_ENST00000397261.3_5'Flank|ARPC4_ENST00000287613.7_5'Flank|TADA3_ENST00000492635.1_5'UTR|ARPC4_ENST00000498623.2_5'Flank|TADA3_ENST00000440161.1_Silent_p.P114P|TADA3_ENST00000343450.2_Silent_p.P114P	NM_006354.2	NP_006345.1	O75528	TADA3_HUMAN	transcriptional adaptor 3	114					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|intracellular estrogen receptor signaling pathway (GO:0030520)|mitotic nuclear division (GO:0007067)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of histone deacetylation (GO:0031063)|regulation of protein phosphorylation (GO:0001932)|regulation of protein stability (GO:0031647)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of tubulin deacetylation (GO:0090043)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|intracellular (GO:0005622)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	16						GGCCAGGGCCCGGCCCATGTC	0.557																																						ENST00000343450.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	16						c.(340-342)ccG>ccA		transcriptional adaptor 3							100.0	87.0	91.0					3																	9831513		2203	4300	6503	SO:0001819	synonymous_variant	10474				estrogen receptor signaling pathway|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	ligand-dependent nuclear receptor binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity	g.chr3:9831513C>T	AF069733	CCDS2583.1, CCDS2584.1	3p25.3	2010-08-13	2009-10-02	2009-10-02	ENSG00000171148	ENSG00000171148			19422	protein-coding gene	gene with protein product		602945	"""transcriptional adaptor 3 (NGG1 homolog, yeast)-like"""	TADA3L		9674425, 11707411	Standard	NM_006354		Approved	FLJ20221, FLJ21329, ADA3, hADA3, NGG1	uc010hcn.2	O75528	OTTHUMG00000128440	ENST00000301964.2:c.342G>A	3.37:g.9831513C>T						TADA3_ENST00000301964.2_Silent_p.P114P|TADA3_ENST00000492635.1_5'UTR|TADA3_ENST00000440161.1_Silent_p.P114P	p.P114P	NM_133480.1	NP_597814.1	O75528	TADA3_HUMAN			3	889	-			114					Q6FI83|Q9UFS2	Silent	SNP	ENST00000301964.2	37	c.342G>A	CCDS2583.1																																																																																				0.557	TADA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250236.1			32	43	0	0	0	1	0	32	43				
EXT2	2132	broad.mit.edu	37	11	44151597	44151597	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr11:44151597C>T	ENST00000343631.3	+	7	1211	c.1082C>T	c.(1081-1083)gCa>gTa	p.A361V	EXT2_ENST00000395673.3_Missense_Mutation_p.A394V|EXT2_ENST00000358681.4_Missense_Mutation_p.A361V|EXT2_ENST00000533608.1_Missense_Mutation_p.A361V			Q93063	EXT2_HUMAN	exostosin glycosyltransferase 2	361					carbohydrate metabolic process (GO:0005975)|cell differentiation (GO:0030154)|cellular polysaccharide biosynthetic process (GO:0033692)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|mesoderm formation (GO:0001707)|ossification (GO:0001503)|protein glycosylation (GO:0006486)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)|glucuronosyltransferase activity (GO:0015020)|heparan sulfate N-acetylglucosaminyltransferase activity (GO:0042328)|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity (GO:0050509)|protein heterodimerization activity (GO:0046982)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						GTCTCCAGAGCATCTGTGGTT	0.423			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Hereditary Multiple Exostoses																													ENST00000395673.3			yes	Rec		Multiple Exostoses Type 2	11	11p12-p11	2132	"""Mis, N, F, S"""	multiple exostoses type 2 gene			M		"""exostoses, osteosarcoma"""			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						c.(1180-1182)gCa>gTa		exostosin glycosyltransferase 2							195.0	176.0	182.0					11																	44151597		2203	4299	6502	SO:0001583	missense	2132	Hereditary Multiple Exostoses	Familial Cancer Database	HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses	glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity	g.chr11:44151597C>T		CCDS7908.1, CCDS53618.1, CCDS53619.1	11p12-p11	2014-09-17	2013-03-01		ENSG00000151348	ENSG00000151348	2.4.1.224, 2.4.1.225	"""Exostosin glycosyltransferase family"""	3513	protein-coding gene	gene with protein product	"""Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase"", ""N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"""	608210	"""exostoses (multiple) 2"", ""exostosin 2"""			8162019, 9576285	Standard	NM_000401		Approved	SOTV	uc001mya.3	Q93063	OTTHUMG00000166498	ENST00000343631.3:c.1082C>T	11.37:g.44151597C>T	ENSP00000342656:p.Ala361Val					EXT2_ENST00000343631.3_Missense_Mutation_p.A361V|EXT2_ENST00000533608.1_Missense_Mutation_p.A361V|EXT2_ENST00000358681.4_Missense_Mutation_p.A361V	p.A394V	NM_000401.3	NP_000392.3	Q93063	EXT2_HUMAN			7	1237	+			361					B2R5Z6|C9JU51|J3KPT2|O15288	Missense_Mutation	SNP	ENST00000343631.3	37	c.1181C>T	CCDS7908.1	.	.	.	.	.	.	.	.	.	.	C	35	5.573793	0.96553	.	.	ENSG00000151348	ENST00000533608;ENST00000358681;ENST00000395673;ENST00000343631	D;D;D;D	0.97850	-4.57;-4.57;-4.57;-4.57	5.66	5.66	0.87406	.	0.102055	0.64402	D	0.000003	D	0.98792	0.9593	M	0.82323	2.585	0.80722	D	1	D;P;P;D;D	0.89917	1.0;0.94;0.926;0.966;0.966	D;P;P;P;P	0.87578	0.998;0.838;0.749;0.796;0.796	D	0.99104	1.0844	10	0.49607	T	0.09	-22.9801	19.7559	0.96291	0.0:1.0:0.0:0.0	.	361;361;361;361;374	Q6NUL1;C9JU51;Q93063-2;Q93063;D3DR24	.;.;.;EXT2_HUMAN;.	V	361;361;394;361	ENSP00000431173:A361V;ENSP00000351509:A361V;ENSP00000379032:A394V;ENSP00000342656:A361V	ENSP00000342656:A361V	A	+	2	0	EXT2	44108173	1.000000	0.71417	0.984000	0.44739	0.990000	0.78478	7.711000	0.84669	2.656000	0.90262	0.655000	0.94253	GCA		0.423	EXT2-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390074.1	NM_000401		23	35	0	0	0	1	0	23	35				
DRD3	1814	broad.mit.edu	37	3	113878602	113878602	+	Splice_Site	SNP	C	C	T			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr3:113878602C>T	ENST00000460779.1	-	4	672	c.383G>A	c.(382-384)aGg>aAg	p.R128K	DRD3_ENST00000467632.1_Splice_Site_p.R128K|DRD3_ENST00000295881.7_Splice_Site_p.R128K|DRD3_ENST00000383673.2_Splice_Site_p.R128K	NM_001282563.1	NP_001269492.1	P35462	DRD3_HUMAN	dopamine receptor D3	128					acid secretion (GO:0046717)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|arachidonic acid secretion (GO:0050482)|behavioral response to cocaine (GO:0048148)|cellular calcium ion homeostasis (GO:0006874)|circadian regulation of gene expression (GO:0032922)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway (GO:0007186)|gastric emptying (GO:0035483)|learning (GO:0007612)|learning or memory (GO:0007611)|locomotory behavior (GO:0007626)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein secretion (GO:0050709)|negative regulation of sodium:proton antiporter activity (GO:0032416)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of mitosis (GO:0045840)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prepulse inhibition (GO:0060134)|regulation of blood volume by renin-angiotensin (GO:0002016)|regulation of cAMP metabolic process (GO:0030814)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|regulation of dopamine secretion (GO:0014059)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of lipid metabolic process (GO:0019216)|regulation of locomotion involved in locomotory behavior (GO:0090325)|regulation of multicellular organism growth (GO:0040014)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to histamine (GO:0034776)|response to morphine (GO:0043278)|social behavior (GO:0035176)|synaptic transmission, dopaminergic (GO:0001963)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|cell projection (GO:0042995)|endocytic vesicle (GO:0030139)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Amisulpride(DB06288)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Domperidone(DB01184)|Dopamine(DB00988)|Haloperidol(DB00502)|Iloperidone(DB04946)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pimozide(DB01100)|Pramipexole(DB00413)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sulpiride(DB00391)|Yohimbine(DB01392)|Ziprasidone(DB00246)	GCAGCCCTACCTGTCTATGCT	0.512																																						ENST00000383673.2																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36						c.e3+1		dopamine receptor D3	Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)						105.0	94.0	98.0					3																	113878602		2203	4300	6503	SO:0001630	splice_region_variant	1814				activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding	g.chr3:113878602C>T		CCDS2978.1, CCDS33829.1	3q13.3	2012-08-08			ENSG00000151577	ENSG00000151577		"""GPCR / Class A : Dopamine receptors"""	3024	protein-coding gene	gene with protein product		126451				1916765	Standard	XM_005247171		Approved		uc003ebc.1	P35462	OTTHUMG00000159334	ENST00000460779.1:c.383+1G>A	3.37:g.113878602C>T						DRD3_ENST00000295881.7_Splice_Site_p.R128_splice|DRD3_ENST00000460779.1_Splice_Site_p.R128_splice|DRD3_ENST00000467632.1_Splice_Site_p.R128_splice	p.R128_splice	NM_000796.3	NP_000787.2	P35462	DRD3_HUMAN			3	813	-			128					A1A4V5|Q4VBM8	Splice_Site	SNP	ENST00000460779.1	37	c.383_splice	CCDS2978.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.031987	0.93575	.	.	ENSG00000151577	ENST00000460779;ENST00000467632;ENST00000383673;ENST00000281274;ENST00000295881	D;D;D;D	0.97114	-4.25;-4.25;-4.25;-4.25	4.58	4.58	0.56647	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.99080	0.9684	H	0.98155	4.16	0.80722	D	1	D;D;D;D	0.89917	0.994;0.994;0.994;1.0	D;D;D;D	0.97110	0.977;0.977;0.969;1.0	D	0.99019	1.0817	9	.	.	.	.	16.2952	0.82767	0.0:1.0:0.0:0.0	.	128;128;128;128	A1A4V4;A8K8E4;P35462;E9PCM4	.;.;DRD3_HUMAN;.	K	128	ENSP00000419402:R128K;ENSP00000420662:R128K;ENSP00000373169:R128K;ENSP00000295881:R128K	.	R	-	2	0	DRD3	115361292	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.301000	0.78850	2.384000	0.81235	0.555000	0.69702	AGG		0.512	DRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354699.1	NM_000796.3	Missense_Mutation	23	34	0	0	0	1	0	23	34				
USP11	8237	broad.mit.edu	37	X	47100675	47100675	+	Splice_Site	SNP	G	G	T			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chrX:47100675G>T	ENST00000218348.3	+	8	975		c.e8-1		USP11_ENST00000377107.2_Splice_Site	NM_004651.3	NP_004642.2	P51784	UBP11_HUMAN	ubiquitin specific peptidase 11						protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						GGCCTCTGCAGTGCCTCAGCA	0.527																																						ENST00000377107.2																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						c.e8-1		ubiquitin specific peptidase 11							84.0	59.0	67.0					X																	47100675		2203	4300	6503	SO:0001630	splice_region_variant	8237				protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chrX:47100675G>T	U44839	CCDS14277.1	Xp11.23	2008-02-05	2005-08-08		ENSG00000102226	ENSG00000102226		"""Ubiquitin-specific peptidases"""	12609	protein-coding gene	gene with protein product		300050	"""ubiquitin specific protease 11"""			12838346	Standard	XM_005272674		Approved	UHX1	uc004dhp.3	P51784	OTTHUMG00000021437	ENST00000218348.3:c.976-1G>T	X.37:g.47100675G>T						USP11_ENST00000218348.3_Splice_Site				P51784	UBP11_HUMAN			8	1200	+								B2RTX1|Q8IUG6|Q9BWE1	Splice_Site	SNP	ENST00000218348.3	37		CCDS14277.1	.	.	.	.	.	.	.	.	.	.	.	18.44	3.623603	0.66901	.	.	ENSG00000102226	ENST00000377107;ENST00000218348;ENST00000377078	.	.	.	5.73	5.73	0.89815	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5647	0.87916	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	USP11	46985619	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	9.751000	0.98889	2.419000	0.82065	0.600000	0.82982	.		0.527	USP11-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_004651	Intron	13	9	1	0	2.31682e-05	1	2.42056e-05	13	9				
TRIT1	54802	broad.mit.edu	37	1	40349133	40349133	+	Missense_Mutation	SNP	G	G	T			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr1:40349133G>T	ENST00000316891.5	-	1	45	c.31C>A	c.(31-33)Ccc>Acc	p.P11T	TRIT1_ENST00000545233.1_5'Flank|TRIT1_ENST00000491865.1_5'UTR|Y_RNA_ENST00000365352.1_RNA|TRIT1_ENST00000541099.1_5'Flank|TRIT1_ENST00000372818.1_Missense_Mutation_p.P11T|TRIT1_ENST00000537223.1_5'Flank|TRIT1_ENST00000537440.1_5'Flank|TRIT1_ENST00000441669.2_Missense_Mutation_p.P11T|TRIT1_ENST00000544981.1_Missense_Mutation_p.P11T	NM_017646.4	NP_060116.2	Q9H3H1	MOD5_HUMAN	tRNA isopentenyltransferase 1	11					tRNA processing (GO:0008033)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|tRNA dimethylallyltransferase activity (GO:0052381)			breast(1)|large_intestine(5)|liver(1)|lung(3)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(1)	15	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CTGCCCACGGGAACTGCTCGT	0.657																																						ENST00000316891.5																			0				breast(1)|large_intestine(5)|liver(1)|lung(3)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(1)	15						c.(31-33)Ccc>Acc		tRNA isopentenyltransferase 1							22.0	27.0	25.0					1																	40349133		2203	4299	6502	SO:0001583	missense	54802				tRNA processing	mitochondrion	ATP binding|metal ion binding|tRNA dimethylallyltransferase activity	g.chr1:40349133G>T	AF074918	CCDS30681.1	1p34.2	2012-10-05			ENSG00000043514	ENSG00000043514	2.5.1.8		20286	protein-coding gene	gene with protein product						11111046, 15870694	Standard	NM_017646		Approved	FLJ20061, IPT	uc021olz.1	Q9H3H1	OTTHUMG00000009245	ENST00000316891.5:c.31C>A	1.37:g.40349133G>T	ENSP00000321810:p.Pro11Thr					TRIT1_ENST00000441669.2_Missense_Mutation_p.P11T|TRIT1_ENST00000544981.1_Missense_Mutation_p.P11T|TRIT1_ENST00000372818.1_Missense_Mutation_p.P11T|TRIT1_ENST00000491865.1_5'UTR	p.P11T	NM_017646.4	NP_060116.2	Q9H3H1	MOD5_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		1	45	-	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	11					A1A4X7|Q3T7B5|Q5QPK5|Q5QPK6|Q6IAC9|Q96FJ3|Q96L45|Q9NXT7	Missense_Mutation	SNP	ENST00000316891.5	37	c.31C>A	CCDS30681.1	.	.	.	.	.	.	.	.	.	.	G	0.228	-1.022978	0.02061	.	.	ENSG00000043514	ENST00000046894;ENST00000372825;ENST00000441669;ENST00000316891;ENST00000372818;ENST00000544981	T;T	0.40756	1.02;1.02	5.42	-0.791	0.10929	.	0.555506	0.18991	N	0.125592	T	0.18635	0.0447	N	0.14661	0.345	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.002	T	0.10917	-1.0609	10	0.62326	D	0.03	-3.5956	0.7828	0.01043	0.3379:0.1595:0.3409:0.1617	.	11;11	Q9H3H1;Q9H3H1-5	MOD5_HUMAN;.	T	11;11;5;11;11;11	ENSP00000321810:P11T;ENSP00000361905:P11T	ENSP00000046894:P11T	P	-	1	0	TRIT1	40121720	0.000000	0.05858	0.009000	0.14445	0.302000	0.27658	-0.101000	0.10973	-0.023000	0.13963	0.455000	0.32223	CCC		0.657	TRIT1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025627.2	NM_017646		6	27	1	0	0.0293803	1	0.0300237	6	27				
AMACR	23600	broad.mit.edu	37	5	34005991	34005991	+	Silent	SNP	T	T	C			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr5:34005991T>C	ENST00000335606.6	-	2	349	c.261A>G	c.(259-261)aaA>aaG	p.K87K	AMACR_ENST00000382085.3_Silent_p.K87K|AMACR_ENST00000426255.2_Silent_p.K87K|AMACR_ENST00000502637.1_Silent_p.K87K|RP11-1084J3.4_ENST00000382079.3_Missense_Mutation_p.T235A|AMACR_ENST00000441713.2_Silent_p.K87K|AMACR_ENST00000512079.1_Silent_p.K87K|AMACR_ENST00000382072.2_Silent_p.K87K|AMACR_ENST00000382068.3_Silent_p.K87K|AMACR_ENST00000514195.1_5'UTR	NM_001167595.1|NM_014324.5	NP_001161067.1|NP_055139.4	Q9UHK6	AMACR_HUMAN	alpha-methylacyl-CoA racemase	87					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	alpha-methylacyl-CoA racemase activity (GO:0008111)|receptor binding (GO:0005102)			endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	19						CCAGCTGGAGTTTCTCCATGA	0.458																																						ENST00000335606.6																			0				endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	19						c.(259-261)aaA>aaG		alpha-methylacyl-CoA racemase							56.0	61.0	59.0					5																	34005991		2203	4300	6503	SO:0001819	synonymous_variant	23600				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	mitochondrion|peroxisomal matrix	alpha-methylacyl-CoA racemase activity	g.chr5:34005991T>C	AF047020	CCDS3902.1, CCDS3903.1, CCDS54836.1	5p13.2	2012-05-16			ENSG00000242110	ENSG00000242110	5.1.99.4		451	protein-coding gene	gene with protein product		604489				9307041	Standard	NM_014324		Approved	RACE	uc003jij.3	Q9UHK6	OTTHUMG00000090734	ENST00000335606.6:c.261A>G	5.37:g.34005991T>C						AMACR_ENST00000441713.2_Silent_p.K87K|AMACR_ENST00000502637.1_Silent_p.K87K|AMACR_ENST00000382085.3_Silent_p.K87K|AMACR_ENST00000382072.2_Silent_p.K87K|AMACR_ENST00000514195.1_5'UTR	p.K87K	NM_001167595.1|NM_014324.5	NP_001161067.1|NP_055139.4	Q9UHK6	AMACR_HUMAN			2	349	-			87					A5YM47|B8Y916|B8Y918|F8W9N1|O43673|Q3KT79|Q96GH1|Q9Y3Q1	Silent	SNP	ENST00000335606.6	37	c.261A>G	CCDS3902.1																																																																																				0.458	AMACR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207467.1	NM_014324		17	36	0	0	0	1	0	17	36				
THSD7A	221981	broad.mit.edu	37	7	11676205	11676205	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr7:11676205G>C	ENST00000423059.4	-	2	825	c.574C>G	c.(574-576)Cag>Gag	p.Q192E	THSD7A_ENST00000480061.1_5'Flank	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	192					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)		CAATCTTGCTGGCAAGGAATG	0.572										HNSCC(18;0.044)																												ENST00000423059.3																			0				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						c.(574-576)Cag>Gag		thrombospondin, type I, domain containing 7A							70.0	67.0	68.0					7																	11676205		2005	4183	6188	SO:0001583	missense	221981					integral to membrane		g.chr7:11676205G>C		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.574C>G	7.37:g.11676205G>C	ENSP00000406482:p.Gln192Glu	HNSCC(18;0.044)					p.Q192E	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	2	825	-			192						Missense_Mutation	SNP	ENST00000423059.4	37	c.574C>G	CCDS47543.1	.	.	.	.	.	.	.	.	.	.	G	19.21	3.782985	0.70222	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.57907	0.37	5.72	5.72	0.89469	.	0.143869	0.64402	D	0.000006	T	0.48259	0.1490	L	0.36672	1.1	0.43593	D	0.995949	B	0.11235	0.004	B	0.17098	0.017	T	0.29088	-1.0023	10	0.38643	T	0.18	.	20.2406	0.98372	0.0:0.0:1.0:0.0	.	192	Q9UPZ6	THS7A_HUMAN	E	192	ENSP00000406482:Q192E	ENSP00000262042:Q192E	Q	-	1	0	THSD7A	11642730	1.000000	0.71417	0.996000	0.52242	0.991000	0.79684	7.963000	0.87922	2.857000	0.98124	0.650000	0.86243	CAG		0.572	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		12	26	0	0	0	1	0	12	26				
FGD5	152273	broad.mit.edu	37	3	14939513	14939513	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr3:14939513C>T	ENST00000285046.5	+	6	3087	c.2977C>T	c.(2977-2979)Cac>Tac	p.H993Y	FGD5_ENST00000543601.1_Missense_Mutation_p.H752Y|FGD5_ENST00000476851.1_3'UTR	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	993	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						CCACGCCACTCACATCCTGCA	0.592																																						ENST00000285046.5																			0				NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						c.(2977-2979)Cac>Tac		FYVE, RhoGEF and PH domain containing 5							84.0	91.0	88.0					3																	14939513		2164	4270	6434	SO:0001583	missense	152273				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr3:14939513C>T	AK097276	CCDS46767.1	3p25.1	2013-01-10			ENSG00000154783	ENSG00000154783		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19117	protein-coding gene	gene with protein product		614788					Standard	NM_152536		Approved	ZFYVE23, FLJ39957, FLJ00274	uc003bzc.3	Q6ZNL6	OTTHUMG00000155556	ENST00000285046.5:c.2977C>T	3.37:g.14939513C>T	ENSP00000285046:p.His993Tyr					FGD5_ENST00000543601.1_Missense_Mutation_p.H752Y|FGD5_ENST00000476851.1_3'UTR	p.H993Y	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN			6	3087	+			993			DH.		B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Missense_Mutation	SNP	ENST00000285046.5	37	c.2977C>T	CCDS46767.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.138|3.138	-0.176895|-0.176895	0.06380|0.06380	.|.	.|.	ENSG00000154783|ENSG00000154783	ENST00000285046;ENST00000543601|ENST00000457774	T;T|.	0.29655|.	1.56;1.56|.	5.0|5.0	3.99|3.99	0.46301|0.46301	Dbl homology (DH) domain (5);|.	0.114347|.	0.39407|.	N|.	0.001377|.	T|T	0.08447|0.08447	0.0210|0.0210	N|N	0.00991|0.00991	-1.07|-1.07	0.27348|0.27348	N|N	0.956313|0.956313	B;B|.	0.12013|.	0.003;0.005|.	B;B|.	0.12837|.	0.001;0.008|.	T|T	0.18587|0.18587	-1.0332|-1.0332	10|5	0.02654|.	T|.	1|.	-17.497|-17.497	5.4623|5.4623	0.16624|0.16624	0.0:0.8239:0.0:0.1761|0.0:0.8239:0.0:0.1761	.|.	752;993|.	B7ZM68;Q6ZNL6|.	.;FGD5_HUMAN|.	Y|L	993;752|176	ENSP00000285046:H993Y;ENSP00000445949:H752Y|.	ENSP00000285046:H993Y|.	H|S	+|+	1|2	0|0	FGD5|FGD5	14914517|14914517	0.993000|0.993000	0.37304|0.37304	0.892000|0.892000	0.35008|0.35008	0.995000|0.995000	0.86356|0.86356	3.471000|3.471000	0.53107|0.53107	2.310000|2.310000	0.77875|0.77875	0.591000|0.591000	0.81541|0.81541	CAC|TCA		0.592	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340628.1	NM_152536		36	34	0	0	0	1	0	36	34				
KIAA1755	85449	broad.mit.edu	37	20	36841655	36841655	+	Missense_Mutation	SNP	C	C	A			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr20:36841655C>A	ENST00000279024.4	-	14	3663	c.3392G>T	c.(3391-3393)gGc>gTc	p.G1131V		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	1131										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				TGCAGCCTGGCCAGCTTCCTG	0.632																																						ENST00000279024.4																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54						c.(3391-3393)gGc>gTc		KIAA1755							33.0	34.0	33.0					20																	36841655		2203	4300	6503	SO:0001583	missense	85449							g.chr20:36841655C>A	AB051542	CCDS33467.1	20q11.23	2007-12-07			ENSG00000149633	ENSG00000149633			29372	protein-coding gene	gene with protein product						11214970	Standard	NM_001029864		Approved	RP5-1054A22.3	uc002xhy.1	Q5JYT7	OTTHUMG00000032436	ENST00000279024.4:c.3392G>T	20.37:g.36841655C>A	ENSP00000279024:p.Gly1131Val						p.G1131V	NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN			14	3663	-		Myeloproliferative disorder(115;0.00874)	1131					Q9C0A8	Missense_Mutation	SNP	ENST00000279024.4	37	c.3392G>T	CCDS33467.1	.	.	.	.	.	.	.	.	.	.	C	17.42	3.386086	0.61956	.	.	ENSG00000149633	ENST00000279024	T	0.08370	3.1	4.9	3.94	0.45596	.	0.156845	0.30003	N	0.010657	T	0.16938	0.0407	L	0.52573	1.65	0.54753	D	0.999987	D	0.63880	0.993	P	0.59643	0.861	T	0.00090	-1.2086	10	0.66056	D	0.02	.	9.2557	0.37581	0.0:0.8998:0.0:0.1002	.	1131	Q5JYT7	K1755_HUMAN	V	1131	ENSP00000279024:G1131V	ENSP00000279024:G1131V	G	-	2	0	KIAA1755	36275069	0.357000	0.24938	1.000000	0.80357	0.027000	0.11550	0.424000	0.21330	2.560000	0.86352	0.561000	0.74099	GGC		0.632	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079144.3	NM_001029864		12	29	1	0	3.07112e-06	1	3.23276e-06	12	29				
SPANXN2	494119	broad.mit.edu	37	X	142795488	142795488	+	Missense_Mutation	SNP	T	T	G			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chrX:142795488T>G	ENST00000370498.1	-	2	943	c.190A>C	c.(190-192)Aat>Cat	p.N64H		NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN	SPANX family, member N2	64										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TGATTTGAATTTATTTTCGTA	0.433																																						ENST00000370498.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(190-192)Aat>Cat		SPANX family, member N2							264.0	231.0	242.0					X																	142795488		2203	4300	6503	SO:0001583	missense	494119							g.chrX:142795488T>G		CCDS35419.1	Xq27.3	2012-06-12			ENSG00000203924	ENSG00000268988			33175	protein-coding gene	gene with protein product	"""cancer/testis antigen family 11, member 7"""	300665				14973187, 17012309	Standard	NM_001009615		Approved	SPANX-N2, CT11.7	uc004fbz.3	Q5MJ10	OTTHUMG00000022583	ENST00000370498.1:c.190A>C	X.37:g.142795488T>G	ENSP00000359529:p.Asn64His						p.N64H	NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN			2	943	-	Acute lymphoblastic leukemia(192;6.56e-05)		64					Q0ZNM2	Missense_Mutation	SNP	ENST00000370498.1	37	c.190A>C	CCDS35419.1	.	.	.	.	.	.	.	.	.	.	T	1.697	-0.502437	0.04261	.	.	ENSG00000203924	ENST00000370498	T	0.06608	3.28	0.645	-1.19	0.09585	.	.	.	.	.	T	0.02929	0.0087	N	0.17474	0.49	0.09310	N	1	B	0.29232	0.238	B	0.29267	0.1	T	0.45396	-0.9264	8	0.07030	T	0.85	.	.	.	.	.	64	Q5MJ10	SPXN2_HUMAN	H	64	ENSP00000359529:N64H	ENSP00000359529:N64H	N	-	1	0	SPANXN2	142623154	0.000000	0.05858	0.000000	0.03702	0.042000	0.13812	-0.157000	0.10085	-0.445000	0.07159	0.242000	0.17961	AAT		0.433	SPANXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058621.2	NM_001009615		64	46	0	0	0	1	0	64	46				
HYDIN	54768	broad.mit.edu	37	16	70902541	70902541	+	Missense_Mutation	SNP	G	G	A	rs12102644	byFrequency	TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr16:70902541G>A	ENST00000393567.2	-	66	11392	c.11242C>T	c.(11242-11244)Cgc>Tgc	p.R3748C	SNORD112_ENST00000515891.1_RNA	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3748					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GTGTGCATGCGGTCATCCCAG	0.507																																						ENST00000393567.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43						c.(11242-11244)Cgc>Tgc		HYDIN, axonemal central pair apparatus protein							76.0	73.0	74.0					16																	70902541		1968	4144	6112	SO:0001583	missense	54768							g.chr16:70902541G>A	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.11242C>T	16.37:g.70902541G>A	ENSP00000377197:p.Arg3748Cys						p.R3748C	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN			66	11392	-		Ovarian(137;0.0654)	3748					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	c.11242C>T	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	G	18.00	3.525387	0.64747	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.01126	5.3	5.03	3.06	0.35304	.	0.000000	0.33834	U	0.004514	T	0.05686	0.0149	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.72338	0.977	T	0.08310	-1.0728	10	0.87932	D	0	.	10.4855	0.44719	0.1607:0.0:0.8393:0.0	rs12102644	3747	F8WD23	.	C	3748;3747	ENSP00000377197:R3748C	ENSP00000313052:R3747C	R	-	1	0	HYDIN	69460042	1.000000	0.71417	1.000000	0.80357	0.726000	0.41606	1.554000	0.36266	1.111000	0.41721	-0.350000	0.07774	CGC		0.507	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			13	15	0	0	0	1	0	13	15				
SYNE2	23224	broad.mit.edu	37	14	64493338	64493338	+	Silent	SNP	G	G	A	rs372331503		TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr14:64493338G>A	ENST00000344113.4	+	42	6506	c.6294G>A	c.(6292-6294)gaG>gaA	p.E2098E	SYNE2_ENST00000554584.1_Silent_p.E2098E|SYNE2_ENST00000358025.3_Silent_p.E2098E|SYNE2_ENST00000357395.3_5'UTR	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2098					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CCAGAATAGAGACCATCATGA	0.443																																						ENST00000358025.3																			0				NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.(6292-6294)gaG>gaA		spectrin repeat containing, nuclear envelope 2		G	,	0,3920		0,0,1960	68.0	67.0	68.0		6294,6294	2.8	0.5	14		68	1,8277		0,1,4138	no	coding-synonymous,coding-synonymous	SYNE2	NM_015180.4,NM_182914.2	,	0,1,6098	AA,AG,GG		0.0121,0.0,0.0082	,	2098/6886,2098/6908	64493338	1,12197	1960	4139	6099	SO:0001819	synonymous_variant	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64493338G>A	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.6294G>A	14.37:g.64493338G>A						SYNE2_ENST00000554584.1_Silent_p.E2098E|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Silent_p.E2098E	p.E2098E	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	42	6524	+			2098					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Silent	SNP	ENST00000344113.4	37	c.6294G>A	CCDS41963.1																																																																																				0.443	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		5	12	0	0	0	1	0	5	12				
PPEF1	5475	broad.mit.edu	37	X	18748380	18748380	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chrX:18748380C>T	ENST00000361511.4	+	5	622	c.128C>T	c.(127-129)aCc>aTc	p.T43I	PPEF1_ENST00000544635.1_Intron|PPEF1_ENST00000349874.5_Missense_Mutation_p.T43I|PPEF1_ENST00000543630.1_Missense_Mutation_p.T43I|PPEF1_ENST00000471570.1_3'UTR|PPEF1_ENST00000359763.6_Missense_Mutation_p.T43I	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN	protein phosphatase, EF-hand calcium binding domain 1	43	IQ. {ECO:0000255|PROSITE- ProRule:PRU00116}.				detection of stimulus involved in sensory perception (GO:0050906)|phototransduction, visible light (GO:0007603)|protein dephosphorylation (GO:0006470)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|protein serine/threonine phosphatase activity (GO:0004722)			breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					TATGCCCTCACCATCTTCCAG	0.453																																						ENST00000361511.4																			0				breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43						c.(127-129)aCc>aTc		protein phosphatase, EF-hand calcium binding domain 1							255.0	186.0	209.0					X																	18748380		2203	4300	6503	SO:0001583	missense	5475				detection of stimulus involved in sensory perception|protein dephosphorylation		calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity	g.chrX:18748380C>T	BC036026	CCDS14188.1, CCDS43920.1	Xp22	2013-01-10			ENSG00000086717	ENSG00000086717		"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"", ""EF-hand domain containing"""	9243	protein-coding gene	gene with protein product	"""protein phosphatase 7, catalytic subunit, alpha isozyme"""	300109		PPEF		9215685, 9326663	Standard	NM_152224		Approved	PPP7CA	uc004cyq.3	O14829	OTTHUMG00000021219	ENST00000361511.4:c.128C>T	X.37:g.18748380C>T	ENSP00000354871:p.Thr43Ile					PPEF1_ENST00000544635.1_Intron|PPEF1_ENST00000543630.1_Missense_Mutation_p.T43I|PPEF1_ENST00000359763.6_Missense_Mutation_p.T43I|PPEF1_ENST00000471570.1_3'UTR|PPEF1_ENST00000349874.5_Missense_Mutation_p.T43I	p.T43I	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN			5	622	+	Hepatocellular(33;0.183)		43			IQ.		A6NHP4|A8K348|O15253|Q9NU21|Q9UJH0	Missense_Mutation	SNP	ENST00000361511.4	37	c.128C>T	CCDS14188.1	.	.	.	.	.	.	.	.	.	.	C	12.95	2.090595	0.36855	.	.	ENSG00000086717	ENST00000361511;ENST00000359763;ENST00000349874;ENST00000543630	T;T;T;T	0.23754	3.23;3.08;3.08;1.89	5.85	3.91	0.45181	.	0.542116	0.16898	N	0.195028	T	0.23806	0.0576	L	0.53249	1.67	0.80722	D	1	P;P;P	0.51791	0.589;0.948;0.763	B;B;B	0.42555	0.211;0.391;0.293	T	0.01464	-1.1348	10	0.38643	T	0.18	-3.1064	8.2668	0.31819	0.3229:0.5517:0.1253:0.0	.	43;43;43	O14829-5;O14829;O14829-3	.;PPE1_HUMAN;.	I	43	ENSP00000354871:T43I;ENSP00000352806:T43I;ENSP00000341892:T43I;ENSP00000437785:T43I	ENSP00000341892:T43I	T	+	2	0	PPEF1	18658301	0.995000	0.38212	0.982000	0.44146	0.020000	0.10135	0.431000	0.21444	2.467000	0.83353	0.594000	0.82650	ACC		0.453	PPEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055953.3	NM_006240		51	22	0	0	0	1	0	51	22				
FABP2	2169	broad.mit.edu	37	4	120241875	120241875	+	Missense_Mutation	SNP	C	C	G			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr4:120241875C>G	ENST00000274024.3	-	2	477	c.190G>C	c.(190-192)Gaa>Caa	p.E64Q		NM_000134.3	NP_000125.2	P12104	FABPI_HUMAN	fatty acid binding protein 2, intestinal	64					digestion (GO:0007586)	cytoplasm (GO:0005737)	fatty acid binding (GO:0005504)|transporter activity (GO:0005215)			breast(1)|large_intestine(4)|lung(1)|ovary(1)|pancreas(1)	8					Estradiol(DB00783)|Ibuprofen(DB01050)|Sulfinpyrazone(DB01138)	ACACCAAGTTCAAAAACAACT	0.343																																						ENST00000274024.3																			0				breast(1)|large_intestine(4)|lung(1)|ovary(1)|pancreas(1)	8						c.(190-192)Gaa>Caa		fatty acid binding protein 2, intestinal							105.0	113.0	110.0					4																	120241875		2201	4300	6501	SO:0001583	missense	2169						fatty acid binding	g.chr4:120241875C>G	J03465	CCDS3712.1	4q28-q31	2013-03-01			ENSG00000145384	ENSG00000145384		"""Fatty acid binding protein family"""	3556	protein-coding gene	gene with protein product		134640					Standard	NM_000134		Approved	I-FABP	uc003icw.3	P12104	OTTHUMG00000132972	ENST00000274024.3:c.190G>C	4.37:g.120241875C>G	ENSP00000274024:p.Glu64Gln						p.E64Q	NM_000134.3	NP_000125.2	P12104	FABPI_HUMAN			2	477	-			64					Q2NKJ1	Missense_Mutation	SNP	ENST00000274024.3	37	c.190G>C	CCDS3712.1	.	.	.	.	.	.	.	.	.	.	C	11.47	1.648167	0.29336	.	.	ENSG00000145384	ENST00000274024	T	0.08634	3.07	5.35	4.51	0.55191	Calycin-like (1);Cytosolic fatty-acid binding (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.200656	0.50627	D	0.000117	T	0.04363	0.0120	N	0.11064	0.09	0.33013	D	0.527737	P	0.36660	0.564	B	0.34873	0.191	T	0.24621	-1.0155	10	0.46703	T	0.11	.	6.8214	0.23859	0.0:0.6962:0.0:0.3038	.	64	P12104	FABPI_HUMAN	Q	64	ENSP00000274024:E64Q	ENSP00000274024:E64Q	E	-	1	0	FABP2	120461323	1.000000	0.71417	0.994000	0.49952	0.644000	0.38419	5.649000	0.67936	1.247000	0.43917	0.650000	0.86243	GAA		0.343	FABP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256531.1	NM_000134		22	43	0	0	0	1	0	22	43				
ADCY2	108	broad.mit.edu	37	5	7709416	7709416	+	Silent	SNP	G	G	A			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr5:7709416G>A	ENST00000338316.4	+	10	1583	c.1494G>A	c.(1492-1494)ttG>ttA	p.L498L	ADCY2_ENST00000537121.1_Silent_p.L318L|RP11-711G10.1_ENST00000514105.2_RNA	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	498					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						CCCGGTACTTGGAGTCCTGGG	0.612																																						ENST00000338316.4																			0				NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						c.(1492-1494)ttG>ttA		adenylate cyclase 2 (brain)							80.0	64.0	69.0					5																	7709416		2203	4300	6503	SO:0001819	synonymous_variant	108				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	g.chr5:7709416G>A	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.1494G>A	5.37:g.7709416G>A						ADCY2_ENST00000537121.1_Silent_p.L318L|RP11-711G10.1_ENST00000514105.2_RNA	p.L498L	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN			10	1583	+			498					B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Silent	SNP	ENST00000338316.4	37	c.1494G>A	CCDS3872.2																																																																																				0.612	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		9	21	0	0	0	1	0	9	21				
PDZRN3	23024	broad.mit.edu	37	3	73440229	73440229	+	Silent	SNP	C	C	T			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr3:73440229C>T	ENST00000263666.4	-	6	1407	c.1293G>A	c.(1291-1293)ctG>ctA	p.L431L	PDZRN3_ENST00000462146.2_Silent_p.L88L|PDZRN3_ENST00000466780.1_Silent_p.L88L|PDZRN3_ENST00000466348.1_5'UTR|PDZRN3_ENST00000535920.1_Silent_p.L153L|PDZRN3_ENST00000479530.1_Silent_p.L148L	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	431	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		CAGTGAGGCCCAGCTTGTCCT	0.478																																						ENST00000263666.4																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(1291-1293)ctG>ctA		PDZ domain containing ring finger 3							266.0	246.0	253.0					3																	73440229		2203	4300	6503	SO:0001819	synonymous_variant	23024						ubiquitin-protein ligase activity|zinc ion binding	g.chr3:73440229C>T	AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"""RING-type (C3HC4) zinc fingers"""	17704	protein-coding gene	gene with protein product	"""likely ortholog of mouse semaF cytoplasmic domain associated protein 3"""	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.1293G>A	3.37:g.73440229C>T						PDZRN3_ENST00000535920.1_Silent_p.L153L|PDZRN3_ENST00000466780.1_Silent_p.L88L|PDZRN3_ENST00000462146.2_Silent_p.L88L|PDZRN3_ENST00000479530.1_Silent_p.L148L|PDZRN3_ENST00000466348.1_5'UTR	p.L431L	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)	6	1407	-		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)	431			PDZ 2.		A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Silent	SNP	ENST00000263666.4	37	c.1293G>A	CCDS33789.1	.	.	.	.	.	.	.	.	.	.	C	9.266	1.044461	0.19748	.	.	ENSG00000121440	ENST00000494559	.	.	.	5.18	0.853	0.19001	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.3523	0.16042	0.2042:0.604:0.1079:0.0839	.	.	.	.	X	28	.	.	W	-	2	0	PDZRN3	73522919	0.121000	0.22262	1.000000	0.80357	0.996000	0.88848	-0.527000	0.06200	0.564000	0.29238	-0.122000	0.15005	TGG		0.478	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	XM_041363		35	61	0	0	0	1	0	35	61				
KDSR	2531	broad.mit.edu	37	18	61022460	61022460	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr18:61022460C>T	ENST00000406396.3	-	5	785	c.394G>A	c.(394-396)Gat>Aat	p.D132N	KDSR_ENST00000326575.5_Missense_Mutation_p.D132N	NM_002035.2	NP_002026.1	Q06136	KDSR_HUMAN	3-ketodihydrosphingosine reductase	132					3-keto-sphinganine metabolic process (GO:0006666)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3-dehydrosphinganine reductase activity (GO:0047560)			endometrium(2)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	9						ACTTCAAGATCTTCAAATTTT	0.408																																						ENST00000406396.3																			0				endometrium(2)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	9						c.(394-396)Gat>Aat		3-ketodihydrosphingosine reductase							133.0	129.0	131.0					18																	61022460		2203	4300	6503	SO:0001583	missense	2531				3-keto-sphinganine metabolic process	endoplasmic reticulum membrane|extracellular space|integral to membrane	3-dehydrosphinganine reductase activity|binding	g.chr18:61022460C>T		CCDS11982.1	18q21	2011-09-20	2008-02-20	2008-02-20	ENSG00000119537	ENSG00000119537	1.1.1.102	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	4021	protein-coding gene	gene with protein product	"""3-dehydrosphinganine reductase"", ""short chain dehydrogenase/reductase family 35C, member 1"""	136440	"""follicular lymphoma variant translocation 1"""	FVT1		8417785, 15328338, 17420465, 19027726	Standard	NM_002035		Approved	DHSR, SDR35C1	uc010dpw.3	Q06136	OTTHUMG00000132792	ENST00000406396.3:c.394G>A	18.37:g.61022460C>T	ENSP00000385083:p.Asp132Asn					KDSR_ENST00000326575.5_Missense_Mutation_p.D132N	p.D132N	NM_002035.2	NP_002026.1	Q06136	KDSR_HUMAN			5	785	-			132					B2R5Y1|B4DMX0	Missense_Mutation	SNP	ENST00000406396.3	37	c.394G>A	CCDS11982.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.730449	0.89390	.	.	ENSG00000119537	ENST00000406396;ENST00000326575	D;T	0.90504	-2.68;0.53	5.73	5.73	0.89815	NAD(P)-binding domain (1);	0.289314	0.43416	D	0.000561	D	0.89399	0.6704	L	0.41415	1.275	0.39422	D	0.966932	P;B	0.38745	0.645;0.105	B;B	0.43155	0.41;0.125	D	0.87694	0.2556	10	0.30078	T	0.28	.	19.8998	0.96981	0.0:1.0:0.0:0.0	.	132;132	B4DMX0;Q06136	.;KDSR_HUMAN	N	132	ENSP00000385083:D132N;ENSP00000312939:D132N	ENSP00000312939:D132N	D	-	1	0	KDSR	59173440	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.787000	0.85759	2.708000	0.92522	0.655000	0.94253	GAT		0.408	KDSR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256200.2			51	82	0	0	0	1	0	51	82				
SPATA31D5P	347127	broad.mit.edu	37	9	84531209	84531209	+	RNA	SNP	C	C	T			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr9:84531209C>T	ENST00000527857.1	+	0	1231					NR_026851.1				SPATA31 subfamily D, member 5, pseudogene																		ACTCTGTGGTCAACCTCACAG	0.423																																						ENST00000527857.1																			0																																																			347127							g.chr9:84531209C>T			9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000240632	ENSG00000240632			38602	pseudogene	pseudogene			"""family with sequence similarity 75, member D5"", ""family with sequence similarity 75, member D5, pseudogene"""	FAM75D5			Standard	NR_026851		Approved	FLJ43950, FAM75D5P	uc011lst.2		OTTHUMG00000020087		9.37:g.84531209C>T								NR_026851.1						0	1231	+									RNA	SNP	ENST00000527857.1	37																																																																																						0.423	SPATA31D5P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000052810.2	NR_026851		3	11	0	0	0	1	0	3	11				
ITIH6	347365	broad.mit.edu	37	X	54784569	54784569	+	Silent	SNP	G	G	A			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chrX:54784569G>A	ENST00000218436.6	-	8	1967	c.1938C>T	c.(1936-1938)agC>agT	p.S646S		NM_198510.2	NP_940912.1	Q6UXX5	ITIH6_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	646					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)										GCTGAGCTGTGCTTACCCCTA	0.552																																						ENST00000218436.6																			0											c.(1936-1938)agC>agT		inter-alpha-trypsin inhibitor heavy chain family, member 6							72.0	55.0	61.0					X																	54784569		2203	4300	6503	SO:0001819	synonymous_variant	347365				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chrX:54784569G>A	AY358170	CCDS14361.1	Xp11.22-p11.21	2011-10-26	2011-10-26	2011-10-26	ENSG00000102313	ENSG00000102313			28907	protein-coding gene	gene with protein product			"""inter-alpha (globulin) inhibitor H5-like"""	ITIH5L		12975309	Standard	NM_198510		Approved	UNQ6369	uc004dtj.2	Q6UXX5	OTTHUMG00000021634	ENST00000218436.6:c.1938C>T	X.37:g.54784569G>A							p.S646S	NM_198510.2	NP_940912.1	Q6UXX5	ITH5L_HUMAN			8	1967	-			646					A6NN03	Silent	SNP	ENST00000218436.6	37	c.1938C>T	CCDS14361.1																																																																																				0.552	ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056814.2	NM_198510		24	15	0	0	0	1	0	24	15				
SYNJ1	8867	broad.mit.edu	37	21	34067440	34067440	+	Missense_Mutation	SNP	C	C	A			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr21:34067440C>A	ENST00000322229.7	-	4	631	c.632G>T	c.(631-633)cGa>cTa	p.R211L	SYNJ1_ENST00000357345.3_Missense_Mutation_p.R211L|SYNJ1_ENST00000382499.2_Missense_Mutation_p.R250L|SYNJ1_ENST00000433931.2_Missense_Mutation_p.R250L|SYNJ1_ENST00000382491.3_Missense_Mutation_p.R211L			O43426	SYNJ1_HUMAN	synaptojanin 1	211	SAC. {ECO:0000255|PROSITE- ProRule:PRU00183}.				cell death (GO:0008219)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of synaptic vesicle uncoating (GO:1903390)|regulation of synaptic vesicle membrane organization (GO:1901632)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)	cytosol (GO:0005829)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						GGTCCCAGCTCGTTCACAGCT	0.383																																						ENST00000382499.2																			0				breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						c.(748-750)cGa>cTa		synaptojanin 1							148.0	131.0	137.0					21																	34067440		2203	4300	6503	SO:0001583	missense	8867						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	g.chr21:34067440C>A	AF009040	CCDS33539.1, CCDS33540.1, CCDS33539.2, CCDS33540.2, CCDS54483.1	21q22.2	2008-06-23			ENSG00000159082	ENSG00000159082			11503	protein-coding gene	gene with protein product		604297				9428629, 10773674	Standard	NM_203446		Approved	INPP5G	uc002yqh.2	O43426	OTTHUMG00000064926	ENST00000322229.7:c.632G>T	21.37:g.34067440C>A	ENSP00000322234:p.Arg211Leu					SYNJ1_ENST00000433931.2_Missense_Mutation_p.R250L|SYNJ1_ENST00000382491.3_Missense_Mutation_p.R211L|SYNJ1_ENST00000357345.3_Missense_Mutation_p.R211L|SYNJ1_ENST00000322229.7_Missense_Mutation_p.R211L	p.R250L	NM_203446.2	NP_982271.2	O43426	SYNJ1_HUMAN			5	748	-			211			SAC.		O43425|O94984|Q4KMR1	Missense_Mutation	SNP	ENST00000322229.7	37	c.749G>T	CCDS54484.1	.	.	.	.	.	.	.	.	.	.	C	34	5.349549	0.95830	.	.	ENSG00000159082	ENST00000382491;ENST00000357345;ENST00000382499;ENST00000433931;ENST00000322229;ENST00000429236	T;T;T;T;T;T	0.61627	0.09;0.09;0.09;0.09;0.09;0.09	4.96	4.96	0.65561	Synaptojanin, N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.83225	0.5208	H	0.94345	3.525	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.998;1.0;0.999;0.998	D	0.88326	0.2965	10	0.87932	D	0	.	18.6311	0.91360	0.0:1.0:0.0:0.0	.	211;250;211;211;211	B9EGN3;C9JFZ1;O43426-2;O43426;O43426-4	.;.;.;SYNJ1_HUMAN;.	L	211;211;250;250;211;211	ENSP00000371931:R211L;ENSP00000349903:R211L;ENSP00000371939:R250L;ENSP00000409667:R250L;ENSP00000322234:R211L;ENSP00000413649:R211L	ENSP00000322234:R211L	R	-	2	0	SYNJ1	32989311	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.214000	0.77958	2.486000	0.83907	0.558000	0.71614	CGA		0.383	SYNJ1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				49	105	1	0	4.04843e-08	1	4.49826e-08	49	105				
AKAP13	11214	broad.mit.edu	37	15	86273794	86273794	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr15:86273794G>C	ENST00000394518.2	+	30	7233	c.7138G>C	c.(7138-7140)Gag>Cag	p.E2380Q	AKAP13_ENST00000394510.2_Missense_Mutation_p.E625Q|AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000361243.2_Missense_Mutation_p.E2384Q	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	2380	Interaction with ESR1.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						GGAAGAGAAGGAGATGATTTT	0.463											OREG0023425	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Melanoma(94;603 1453 3280 32295 32951)	ENST00000394518.2																			0				NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						c.(7138-7140)Gag>Cag		A kinase (PRKA) anchor protein 13							137.0	129.0	132.0					15																	86273794		2202	4299	6501	SO:0001583	missense	11214				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|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr15:86273794G>C	M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.7138G>C	15.37:g.86273794G>C	ENSP00000378026:p.Glu2380Gln		OREG0023425	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1243	AKAP13_ENST00000394510.2_Missense_Mutation_p.E625Q|AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000361243.2_Missense_Mutation_p.E2384Q	p.E2380Q	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN			30	7233	+			2380			Interaction with ESR1.		Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	ENST00000394518.2	37	c.7138G>C	CCDS32319.1	.	.	.	.	.	.	.	.	.	.	G	16.74	3.207909	0.58343	.	.	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540;ENST00000394510	T;T;T	0.09445	2.98;3.0;3.07	5.73	4.81	0.61882	.	.	.	.	.	T	0.11623	0.0283	N	0.17474	0.49	0.27541	N	0.950805	D;D	0.59357	0.974;0.985	P;P	0.54460	0.571;0.753	T	0.12041	-1.0563	9	0.14656	T	0.56	.	11.5622	0.50782	0.1385:0.0:0.8615:0.0	.	2380;2384	Q12802;Q12802-2	AKP13_HUMAN;.	Q	2384;2380;2383;2359;625	ENSP00000354718:E2384Q;ENSP00000378026:E2380Q;ENSP00000378018:E625Q	ENSP00000354718:E2384Q	E	+	1	0	AKAP13	84074798	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.628000	0.37060	2.712000	0.92718	0.650000	0.86243	GAG		0.463	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200		31	73	0	0	0	1	0	31	73				
LZTS1	11178	broad.mit.edu	37	8	20107284	20107284	+	Missense_Mutation	SNP	G	G	T			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr8:20107284G>T	ENST00000381569.1	-	4	2097	c.1740C>A	c.(1738-1740)gaC>gaA	p.D580E	LZTS1_ENST00000265801.6_Missense_Mutation_p.D580E|LZTS1_ENST00000522290.1_Missense_Mutation_p.D521E			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	580					cell cycle (GO:0007049)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of macroautophagy (GO:0016242)|positive regulation of type I interferon production (GO:0032481)|regulation of dendrite morphogenesis (GO:0048814)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|nucleoplasm (GO:0005654)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		CCCCTTCCAGGTCAACCTCCA	0.657																																						ENST00000381569.1																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29						c.(1738-1740)gaC>gaA		leucine zipper, putative tumor suppressor 1							79.0	75.0	76.0					8																	20107284		2203	4300	6503	SO:0001583	missense	11178				cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr8:20107284G>T	AF123659	CCDS6015.1	8p22	2012-10-05			ENSG00000061337	ENSG00000061337			13861	protein-coding gene	gene with protein product		606551	"""F37/Esophageal cancer-related gene-coding leucine-zipper motif"""			10097140, 17349584	Standard	NM_021020		Approved	FEZ1	uc003wzr.3	Q9Y250	OTTHUMG00000097027	ENST00000381569.1:c.1740C>A	8.37:g.20107284G>T	ENSP00000370981:p.Asp580Glu					LZTS1_ENST00000265801.6_Missense_Mutation_p.D580E|LZTS1_ENST00000522290.1_Missense_Mutation_p.D521E	p.D580E			Q9Y250	LZTS1_HUMAN		Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)	4	2097	-			580					D3DSQ6|Q9Y5V7|Q9Y5V8|Q9Y5V9|Q9Y5W0|Q9Y5W1|Q9Y5W2	Missense_Mutation	SNP	ENST00000381569.1	37	c.1740C>A	CCDS6015.1	.	.	.	.	.	.	.	.	.	.	g	9.321	1.058158	0.19987	.	.	ENSG00000061337	ENST00000381569;ENST00000265801;ENST00000522290;ENST00000360248	T;T;T	0.22945	2.25;2.25;1.93	5.12	3.33	0.38152	.	0.436100	0.25789	N	0.028293	T	0.10594	0.0259	N	0.08118	0	0.40721	D	0.982664	B;P	0.34864	0.42;0.473	B;B	0.30782	0.12;0.056	T	0.18650	-1.0330	10	0.13108	T	0.6	-40.4059	9.6221	0.39727	0.0788:0.1423:0.7789:0.0	.	521;580	Q9Y250-4;Q9Y250	.;LZTS1_HUMAN	E	580;580;521;557	ENSP00000370981:D580E;ENSP00000265801:D580E;ENSP00000429263:D521E	ENSP00000265801:D580E	D	-	3	2	LZTS1	20151564	1.000000	0.71417	0.990000	0.47175	0.155000	0.21991	1.266000	0.33039	0.549000	0.28973	-0.271000	0.10264	GAC		0.657	LZTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214122.1	NM_021020		28	66	1	0	3.73148e-12	1	4.24721e-12	28	66				
PCDHB2	56133	broad.mit.edu	37	5	140474771	140474771	+	Missense_Mutation	SNP	C	C	A			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr5:140474771C>A	ENST00000194155.4	+	1	545	c.397C>A	c.(397-399)Cca>Aca	p.P133T		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	133	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGATCATTCCCCAGTTTTCCT	0.438																																						ENST00000194155.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71						c.(397-399)Cca>Aca									34.0	37.0	36.0					5																	140474771		2202	4300	6502	SO:0001583	missense	56133				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140474771C>A	AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"""Cadherins / Protocadherins : Clustered"""	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.397C>A	5.37:g.140474771C>A	ENSP00000194155:p.Pro133Thr						p.P133T	NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	545	+			133			Cadherin 1.		Q4KMU1	Missense_Mutation	SNP	ENST00000194155.4	37	c.397C>A	CCDS4244.1	.	.	.	.	.	.	.	.	.	.	C	11.82	1.752945	0.31046	.	.	ENSG00000112852	ENST00000194155	D	0.88124	-2.34	5.0	4.13	0.48395	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	D	0.96396	0.8824	H	0.99555	4.625	0.41812	D	0.989979	D	0.89917	1.0	D	0.91635	0.999	D	0.97606	1.0126	9	0.87932	D	0	.	13.5121	0.61519	0.0:0.9225:0.0:0.0775	.	133	Q9Y5E7	PCDB2_HUMAN	T	133	ENSP00000194155:P133T	ENSP00000194155:P133T	P	+	1	0	PCDHB2	140454955	0.243000	0.23878	0.099000	0.21106	0.006000	0.05464	3.252000	0.51461	1.236000	0.43740	-0.150000	0.13652	CCA		0.438	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251801.2	NM_018936		29	39	1	0	5.61819e-17	1	6.55455e-17	29	39				
FZD5	7855	broad.mit.edu	37	2	208632054	208632054	+	Silent	SNP	G	G	A			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr2:208632054G>A	ENST00000295417.3	-	2	1963	c.1410C>T	c.(1408-1410)taC>taT	p.Y470Y		NM_003468.3	NP_003459.2	Q13467	FZD5_HUMAN	frizzled class receptor 5	470					angiogenesis (GO:0001525)|anterior/posterior axis specification, embryo (GO:0008595)|apoptotic process (GO:0006915)|apoptotic process involved in morphogenesis (GO:0060561)|axonogenesis (GO:0007409)|brain development (GO:0007420)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|canonical Wnt signaling pathway (GO:0060070)|cell maturation (GO:0048469)|cellular response to molecule of bacterial origin (GO:0071219)|chorionic trophoblast cell differentiation (GO:0060718)|embryonic axis specification (GO:0000578)|embryonic camera-type eye development (GO:0031076)|gonad development (GO:0008406)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of cell proliferation (GO:0008285)|neuron differentiation (GO:0030182)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic camera-type eye development (GO:0031077)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of chorionic trophoblast cell proliferation (GO:1901382)|regulation of tight junction assembly (GO:2000810)|Spemann organizer formation (GO:0060061)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell differentiation in thymus (GO:0033077)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	cell projection (GO:0042995)|cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			NS(1)|kidney(1)|lung(1)|ovary(2)|prostate(1)|skin(1)	7				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.13)|Lung(261;0.134)		AGTGCTGCTCGTACAGGTAGC	0.667																																						ENST00000295417.3																			0				NS(1)|kidney(1)|lung(1)|ovary(2)|prostate(1)|skin(1)	7						c.(1408-1410)taC>taT		frizzled family receptor 5							26.0	23.0	24.0					2																	208632054		2133	4181	6314	SO:0001819	synonymous_variant	7855				angiogenesis|anterior/posterior axis specification, embryo|axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to molecule of bacterial origin|embryonic camera-type eye development|gonad development|labyrinthine layer blood vessel development|positive regulation of interferon-gamma production|positive regulation of transcription from RNA polymerase II promoter|post-embryonic camera-type eye development|Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell projection|cell surface|Golgi membrane|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|protein kinase binding|Wnt-protein binding	g.chr2:208632054G>A	U43318	CCDS33366.1	2q33.3	2014-01-29	2014-01-29		ENSG00000163251	ENSG00000163251		"""GPCR / Class F : Frizzled receptors"""	4043	protein-coding gene	gene with protein product		601723	"""frizzled (Drosophila) homolog 5"", ""chromosome 2 open reading frame 31"", ""frizzled homolog 5 (Drosophila)"", ""frizzled 5, seven transmembrane spanning receptor"", ""frizzled family receptor 5"""	C2orf31		8626800, 11408929	Standard	NM_003468		Approved	HFZ5, DKFZP434E2135	uc002vcj.3	Q13467	OTTHUMG00000154790	ENST00000295417.3:c.1410C>T	2.37:g.208632054G>A							p.Y470Y	NM_003468.3	NP_003459.2	Q13467	FZD5_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.13)|Lung(261;0.134)	2	1963	-			470					A8K2X1|B2RCZ1|Q53R22	Silent	SNP	ENST00000295417.3	37	c.1410C>T	CCDS33366.1																																																																																				0.667	FZD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337060.1	NM_003468		11	29	0	0	0	1	0	11	29				
UTP18	51096	broad.mit.edu	37	17	49365466	49365466	+	Missense_Mutation	SNP	A	A	G			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr17:49365466A>G	ENST00000225298.7	+	11	1462	c.1405A>G	c.(1405-1407)Ata>Gta	p.I469V		NM_016001.2	NP_057085.2	Q9Y5J1	UTP18_HUMAN	UTP18 small subunit (SSU) processome component homolog (yeast)	469					rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(3)|kidney(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16			BRCA - Breast invasive adenocarcinoma(22;2.09e-07)			AATAAAAGCTATAATGAACTT	0.338																																						ENST00000225298.7																			0				breast(2)|endometrium(3)|kidney(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						c.(1405-1407)Ata>Gta		UTP18 small subunit (SSU) processome component homolog (yeast)							80.0	73.0	75.0					17																	49365466		1806	4075	5881	SO:0001583	missense	51096				rRNA processing	nucleolus		g.chr17:49365466A>G	AF151806	CCDS42362.1	17q21.33	2013-05-21	2011-12-09	2006-05-16	ENSG00000011260	ENSG00000011260		"""WD repeat domain containing"""	24274	protein-coding gene	gene with protein product		612816	"""WD repeat domain 50"""	WDR50		10810093, 8619474, 15590835	Standard	NM_016001		Approved	CGI-48	uc002its.3	Q9Y5J1	OTTHUMG00000162370	ENST00000225298.7:c.1405A>G	17.37:g.49365466A>G	ENSP00000225298:p.Ile469Val						p.I469V	NM_016001.2	NP_057085.2	Q9Y5J1	UTP18_HUMAN	BRCA - Breast invasive adenocarcinoma(22;2.09e-07)		11	1462	+			469					Q9H4N6	Missense_Mutation	SNP	ENST00000225298.7	37	c.1405A>G	CCDS42362.1	.	.	.	.	.	.	.	.	.	.	A	10.40	1.339254	0.24339	.	.	ENSG00000011260	ENST00000225298;ENST00000508506;ENST00000506849	T	0.18657	2.2	5.34	1.93	0.25924	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.171178	0.51477	N	0.000081	T	0.13114	0.0318	L	0.28649	0.875	0.31643	N	0.647818	B	0.15930	0.015	B	0.18871	0.023	T	0.24476	-1.0159	10	0.18710	T	0.47	-12.6368	8.7767	0.34767	0.775:0.0:0.225:0.0	.	469	Q9Y5J1	UTP18_HUMAN	V	469;445;60	ENSP00000225298:I469V	ENSP00000225298:I469V	I	+	1	0	UTP18	46720465	0.335000	0.24748	0.969000	0.41365	0.975000	0.68041	0.920000	0.28705	0.101000	0.17610	-0.410000	0.06199	ATA		0.338	UTP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368654.1	NM_016001		9	44	0	0	0	1	0	9	44				
NUF2	83540	broad.mit.edu	37	1	163295850	163295850	+	Silent	SNP	T	T	A			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr1:163295850T>A	ENST00000271452.3	+	2	288	c.9T>A	c.(7-9)acT>acA	p.T3T	NUF2_ENST00000367900.3_Silent_p.T3T|NUF2_ENST00000490881.1_Intron|NUF2_ENST00000524800.1_Silent_p.T3T	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component	3	Interaction with the N-terminus of NDC80.				chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|membrane (GO:0016020)|Ndc80 complex (GO:0031262)|nucleus (GO:0005634)				breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					AGATGGAAACTTTGTCTTTCC	0.338																																						ENST00000271452.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						c.(7-9)acT>acA		NUF2, NDC80 kinetochore complex component							111.0	114.0	113.0					1																	163295850		2203	4300	6503	SO:0001819	synonymous_variant	83540				cell division|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding	g.chr1:163295850T>A	BG354574	CCDS1245.1	1q23.3	2013-07-03	2013-07-03	2006-11-07	ENSG00000143228	ENSG00000143228			14621	protein-coding gene	gene with protein product	"""cancer/testis antigen 106"""	611772	"""cell division cycle associated 1"", ""NUF2, NDC80 kinetochore complex component, homolog (S. cerevisiae)"""	CDCA1		11266451, 11685532	Standard	NM_031423		Approved	NUF2R, CT106	uc001gcr.1	Q9BZD4	OTTHUMG00000034275	ENST00000271452.3:c.9T>A	1.37:g.163295850T>A						NUF2_ENST00000524800.1_Silent_p.T3T|NUF2_ENST00000490881.1_Intron|NUF2_ENST00000367900.3_Silent_p.T3T	p.T3T	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN			2	288	+	all_hematologic(923;0.101)		3			Interaction with the N-terminus of NDC80.		Q8WU69|Q96HJ4|Q96Q78	Silent	SNP	ENST00000271452.3	37	c.9T>A	CCDS1245.1																																																																																				0.338	NUF2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000082812.1	NM_145697		31	91	0	0	0	1	0	31	91				
COL22A1	169044	broad.mit.edu	37	8	139601575	139601575	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr8:139601575G>A	ENST00000303045.6	-	65	5248	c.4802C>T	c.(4801-4803)cCc>cTc	p.P1601L	COL22A1_ENST00000435777.1_Missense_Mutation_p.P1581L|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1601	Collagen-like 16.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TTGGCCTGGGGGACCGGGAGG	0.617										HNSCC(7;0.00092)																												ENST00000303045.6																			0				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211						c.(4801-4803)cCc>cTc		collagen, type XXII, alpha 1							50.0	47.0	48.0					8																	139601575		2203	4300	6503	SO:0001583	missense	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139601575G>A	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.4802C>T	8.37:g.139601575G>A	ENSP00000303153:p.Pro1601Leu	HNSCC(7;0.00092)				COL22A1_ENST00000435777.1_Missense_Mutation_p.P1581L|COL22A1_ENST00000341807.4_5'UTR	p.P1601L	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		65	5248	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		1601			Collagen-like 16.|Gly-rich.|Pro-rich.		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	c.4802C>T	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	G	14.07	2.426623	0.43020	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.93366	-3.21;-3.21	5.52	5.52	0.82312	.	0.136311	0.33534	N	0.004812	D	0.94918	0.8357	M	0.62016	1.91	0.58432	D	0.999999	B;D	0.71674	0.196;0.998	B;D	0.69824	0.21;0.966	D	0.92027	0.5630	10	0.12103	T	0.63	.	13.7236	0.62745	0.0:0.0:0.8462:0.1538	.	1581;1601	Q8NFW1-2;Q8NFW1	.;COMA1_HUMAN	L	1601;1581;1294	ENSP00000303153:P1601L;ENSP00000387655:P1581L	ENSP00000303153:P1601L	P	-	2	0	COL22A1	139670757	1.000000	0.71417	0.997000	0.53966	0.193000	0.23685	5.890000	0.69774	2.752000	0.94435	0.655000	0.94253	CCC		0.617	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		3	31	0	0	0	1	0	3	31				
CSNK1D	1453	broad.mit.edu	37	17	80206813	80206813	+	Missense_Mutation	SNP	C	C	T	rs571020217		TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr17:80206813C>T	ENST00000314028.6	-	8	1484	c.1135G>A	c.(1135-1137)Gtc>Atc	p.V379I	CSNK1D_ENST00000392334.2_Missense_Mutation_p.V379I|CSNK1D_ENST00000578904.1_5'Flank|CSNK1D_ENST00000398519.5_Missense_Mutation_p.V379I	NM_001893.4	NP_001884.2	P48730	KC1D_HUMAN	casein kinase 1, delta	379					circadian regulation of gene expression (GO:0032922)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein phosphorylation (GO:0001934)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|signal transduction (GO:0007165)|spindle assembly (GO:0051225)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|spindle (GO:0005819)|spindle microtubule (GO:0005876)	ATP binding (GO:0005524)|peptide binding (GO:0042277)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			breast(2)|large_intestine(2)|lung(7)	11	Breast(20;0.00136)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0155)			GAGATGTTGACGGGGGCCCCG	0.662													C|||	1	0.000199681	0.0	0.0	5008	,	,		14542	0.001		0.0	False		,,,				2504	0.0					ENST00000314028.6																			0				breast(2)|large_intestine(2)|lung(7)	11						c.(1135-1137)Gtc>Atc		casein kinase 1, delta							50.0	46.0	47.0					17																	80206813		2199	4299	6498	SO:0001583	missense	1453				circadian regulation of gene expression|DNA repair|G2/M transition of mitotic cell cycle|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|regulation of circadian rhythm|Wnt receptor signaling pathway	centrosome|cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr17:80206813C>T		CCDS11805.1, CCDS11806.1	17q25	2013-01-17				ENSG00000141551			2452	protein-coding gene	gene with protein product		600864				7797465	Standard	NM_001893		Approved	HCKID, CKID, CKIdelta	uc002kej.3	P48730		ENST00000314028.6:c.1135G>A	17.37:g.80206813C>T	ENSP00000324464:p.Val379Ile					CSNK1D_ENST00000398519.5_Missense_Mutation_p.V379I|CSNK1D_ENST00000392334.2_Missense_Mutation_p.V379I	p.V379I	NM_001893.4	NP_001884.2	P48730	KC1D_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0155)		8	1484	-	Breast(20;0.00136)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		379					A2I2P2|Q96KZ6|Q9BTN5	Missense_Mutation	SNP	ENST00000314028.6	37	c.1135G>A	CCDS11805.1	.	.	.	.	.	.	.	.	.	.	C	16.29	3.082225	0.55861	.	.	ENSG00000141551	ENST00000314028;ENST00000392334;ENST00000398519;ENST00000269361	T;T	0.52295	0.67;0.67	5.69	5.69	0.88448	.	0.124659	0.53938	D	0.000054	T	0.27663	0.0680	N	0.08118	0	0.43841	D	0.996421	B;P;P	0.38167	0.348;0.621;0.619	B;B;B	0.27500	0.051;0.05;0.08	T	0.12293	-1.0553	10	0.35671	T	0.21	.	18.8709	0.92313	0.0:1.0:0.0:0.0	.	379;379;322	P48730;P48730-2;B4E0G1	KC1D_HUMAN;.;.	I	379;379;322;271	ENSP00000324464:V379I;ENSP00000376146:V379I	ENSP00000269361:V271I	V	-	1	0	CSNK1D	77800102	1.000000	0.71417	0.962000	0.40283	0.852000	0.48524	4.561000	0.60809	2.718000	0.92993	0.650000	0.86243	GTC		0.662	CSNK1D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442632.1	NM_139062		9	5	0	0	0	1	0	9	5				
OXCT1	5019	broad.mit.edu	37	5	41862853	41862853	+	Splice_Site	SNP	C	C	A			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr5:41862853C>A	ENST00000196371.5	-	2	239		c.e2-1			NM_000436.3	NP_000427.1	P55809	SCOT1_HUMAN	3-oxoacid CoA transferase 1						adipose tissue development (GO:0060612)|brain development (GO:0007420)|cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|cellular response to acid chemical (GO:0071229)|cellular response to glucose stimulus (GO:0071333)|heart development (GO:0007507)|ketone body catabolic process (GO:0046952)|ketone catabolic process (GO:0042182)|positive regulation of insulin secretion (GO:0032024)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to hormone (GO:0009725)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-oxoacid CoA-transferase activity (GO:0008260)|protein homodimerization activity (GO:0042803)	p.?(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(2)	28					Succinic acid(DB00139)	AAACACATCCCTGaaatatta	0.338																																						ENST00000196371.5																			1	Unknown(1)	p.?(1)	lung(1)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(2)	28						c.e2-1		3-oxoacid CoA transferase 1	Succinic acid(DB00139)						62.0	61.0	62.0					5																	41862853		2203	4300	6503	SO:0001630	splice_region_variant	5019				cellular lipid metabolic process|ketone body catabolic process	mitochondrial matrix	3-oxoacid CoA-transferase activity|protein homodimerization activity	g.chr5:41862853C>A	U62961	CCDS3937.1	5p13	2008-02-05		2004-05-12	ENSG00000083720	ENSG00000083720			8527	protein-coding gene	gene with protein product		601424	"""3-oxoacid CoA transferase"""	OXCT		8751852	Standard	NM_000436		Approved	SCOT	uc003jmn.3	P55809	OTTHUMG00000094783	ENST00000196371.5:c.79-1G>T	5.37:g.41862853C>A								NM_000436.3	NP_000427.1	P55809	SCOT1_HUMAN			2	239	-								B2R5V2|B7Z528	Splice_Site	SNP	ENST00000196371.5	37		CCDS3937.1	.	.	.	.	.	.	.	.	.	.	C	14.71	2.616675	0.46736	.	.	ENSG00000083720	ENST00000196371	.	.	.	5.56	5.56	0.83823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2966	0.90148	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	OXCT1	41898610	1.000000	0.71417	1.000000	0.80357	0.451000	0.32288	6.648000	0.74359	2.615000	0.88500	0.591000	0.81541	.		0.338	OXCT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211594.2	NM_000436	Intron	17	17	1	0	3.41278e-10	1	3.85314e-10	17	17				
SUFU	51684	broad.mit.edu	37	10	104359238	104359238	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr10:104359238G>A	ENST00000369902.3	+	8	1125	c.959G>A	c.(958-960)aGc>aAc	p.S320N	SUFU_ENST00000471000.1_3'UTR|SUFU_ENST00000369899.2_Missense_Mutation_p.S320N|SUFU_ENST00000423559.2_Missense_Mutation_p.S320N	NM_016169.3	NP_057253.2	Q9UMX1	SUFU_HUMAN	suppressor of fused homolog (Drosophila)	320					cytoplasmic sequestering of transcription factor (GO:0042994)|heart looping (GO:0001947)|multicellular organismal development (GO:0007275)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|negative regulation of transcription factor import into nucleus (GO:0042992)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|proteolysis (GO:0006508)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|skin development (GO:0043588)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|primary cilium (GO:0072372)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	24		Colorectal(252;0.207)		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)		GAGATCAACAGCAAACCTGTC	0.602			"""D, F, S"""		medulloblastoma	medulloblastoma			Medulloblastoma, associated with Germline SUFU Mutation																													ENST00000369902.3			yes	Rec	yes	Medulloblastoma predisposition	10	10q24.32	51684	"""D, F, S"""	suppressor of fused homolog (Drosophila)			O		medulloblastoma	medulloblastoma		0				breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	24						c.(958-960)aGc>aAc		suppressor of fused homolog (Drosophila)							128.0	117.0	121.0					10																	104359238		2203	4300	6503	SO:0001583	missense	51684	Medulloblastoma, associated with Germline SUFU Mutation	Familial Cancer Database		negative regulation of transcription from RNA polymerase II promoter|proteolysis|skeletal system development	cytoplasm|nucleus	identical protein binding|protein binding|signal transducer activity|transcription corepressor activity|transcription factor binding	g.chr10:104359238G>A	AF175770	CCDS7537.1, CCDS53571.1	10q24.32	2014-09-17			ENSG00000107882	ENSG00000107882			16466	protein-coding gene	gene with protein product		607035				15367681	Standard	NM_016169		Approved	SUFUH, SUFUXL, PRO1280	uc001kvy.2	Q9UMX1	OTTHUMG00000018966	ENST00000369902.3:c.959G>A	10.37:g.104359238G>A	ENSP00000358918:p.Ser320Asn					SUFU_ENST00000369899.2_Missense_Mutation_p.S320N|SUFU_ENST00000471000.1_3'UTR|SUFU_ENST00000423559.2_Missense_Mutation_p.S320N	p.S320N	NM_016169.3	NP_057253.2	Q9UMX1	SUFU_HUMAN		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)	8	1125	+		Colorectal(252;0.207)	320					Q7LCP7|Q9NT90|Q9NZ07|Q9UHK2|Q9UHM8|Q9UMY0	Missense_Mutation	SNP	ENST00000369902.3	37	c.959G>A	CCDS7537.1	.	.	.	.	.	.	.	.	.	.	G	17.15	3.315120	0.60524	.	.	ENSG00000107882	ENST00000369902;ENST00000369899;ENST00000423559	T;T;T	0.44083	0.93;0.93;0.93	6.07	6.07	0.98685	Suppressor of fused C-terminal (1);	0.068238	0.85682	D	0.000000	T	0.36717	0.0977	L	0.36672	1.1	0.47737	D	0.999508	B;B;B	0.25772	0.003;0.003;0.134	B;B;B	0.19946	0.002;0.001;0.027	T	0.10474	-1.0628	10	0.18276	T	0.48	-25.4689	20.6439	0.99570	0.0:0.0:1.0:0.0	.	320;320;320	Q9UMX1;Q9UMX1-2;Q9UMX1-3	SUFU_HUMAN;.;.	N	320	ENSP00000358918:S320N;ENSP00000358915:S320N;ENSP00000411597:S320N	ENSP00000358915:S320N	S	+	2	0	SUFU	104349228	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.277000	0.58939	2.884000	0.98904	0.655000	0.94253	AGC		0.602	SUFU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050089.1	NM_016169		29	67	0	0	0	1	0	29	67				
TRAM1L1	133022	broad.mit.edu	37	4	118006319	118006319	+	Silent	SNP	G	G	C			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr4:118006319G>C	ENST00000310754.4	-	1	417	c.231C>G	c.(229-231)gtC>gtG	p.V77V		NM_152402.2	NP_689615.2	Q8N609	TR1L1_HUMAN	translocation associated membrane protein 1-like 1	77					protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						CCAAATCTTTGACACCATAAT	0.438																																						ENST00000310754.4																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(229-231)gtC>gtG		translocation associated membrane protein 1-like 1							72.0	72.0	72.0					4																	118006319		2203	4300	6503	SO:0001819	synonymous_variant	133022				protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane		g.chr4:118006319G>C	AK074617	CCDS3707.1	4q26	2008-02-05			ENSG00000174599	ENSG00000174599			28371	protein-coding gene	gene with protein product						12477932	Standard	NM_152402		Approved	MGC26568	uc003ibv.4	Q8N609	OTTHUMG00000132956	ENST00000310754.4:c.231C>G	4.37:g.118006319G>C							p.V77V	NM_152402.2	NP_689615.2	Q8N609	TR1L1_HUMAN			1	417	-			77					Q8N2L7	Silent	SNP	ENST00000310754.4	37	c.231C>G	CCDS3707.1																																																																																				0.438	TRAM1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256513.1	NM_152402		13	17	0	0	0	1	0	13	17				
FAM49A	81553	broad.mit.edu	37	2	16769350	16769350	+	Missense_Mutation	SNP	T	T	G			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr2:16769350T>G	ENST00000381323.3	-	3	258	c.38A>C	c.(37-39)gAa>gCa	p.E13A	FAM49A_ENST00000406434.1_Missense_Mutation_p.E13A|FAM49A_ENST00000355549.2_Missense_Mutation_p.E13A	NM_030797.3	NP_110424.1	Q9H0Q0	FA49A_HUMAN	family with sequence similarity 49, member A	13						intracellular (GO:0005622)				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088)		GBM - Glioblastoma multiforme(3;0.00969)			TGGATAGTTTTCAATTTCCCT	0.328																																						ENST00000381323.3																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	23						c.(37-39)gAa>gCa		family with sequence similarity 49, member A							48.0	50.0	49.0					2																	16769350		2203	4299	6502	SO:0001583	missense	81553					intracellular		g.chr2:16769350T>G	AK001942	CCDS1688.1	2p24.3	2008-02-05			ENSG00000197872	ENSG00000197872			25373	protein-coding gene	gene with protein product							Standard	NM_030797		Approved	DKFZP566A1524, FLJ11080	uc002rck.2	Q9H0Q0	OTTHUMG00000090615	ENST00000381323.3:c.38A>C	2.37:g.16769350T>G	ENSP00000370724:p.Glu13Ala					FAM49A_ENST00000355549.2_Missense_Mutation_p.E13A|FAM49A_ENST00000406434.1_Missense_Mutation_p.E13A	p.E13A	NM_030797.3	NP_110424.1	Q9H0Q0	FA49A_HUMAN	GBM - Glioblastoma multiforme(3;0.00969)		3	258	-	Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088)		13					B3KNZ1|Q53QW2	Missense_Mutation	SNP	ENST00000381323.3	37	c.38A>C	CCDS1688.1	.	.	.	.	.	.	.	.	.	.	T	15.42	2.828182	0.50845	.	.	ENSG00000197872	ENST00000381323;ENST00000406434;ENST00000355549;ENST00000445605;ENST00000451689	T;T;T	0.46819	0.86;0.86;0.86	5.54	5.54	0.83059	.	0.090297	0.85682	D	0.000000	T	0.42675	0.1213	L	0.46741	1.465	0.80722	D	1	B	0.11235	0.004	B	0.12156	0.007	T	0.23119	-1.0197	10	0.30078	T	0.28	-16.9578	14.8052	0.69948	0.0:0.0:0.0:1.0	.	13	Q9H0Q0	FA49A_HUMAN	A	13	ENSP00000370724:E13A;ENSP00000384771:E13A;ENSP00000347744:E13A	ENSP00000347744:E13A	E	-	2	0	FAM49A	16632831	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.178000	0.77657	2.242000	0.73789	0.482000	0.46254	GAA		0.328	FAM49A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207203.2	NM_030797		10	28	0	0	0	1	0	10	28				
C1R	715	broad.mit.edu	37	12	7188366	7188366	+	Missense_Mutation	SNP	T	T	A			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr12:7188366T>A	ENST00000542285.1	-	11	1581	c.1432A>T	c.(1432-1434)Atg>Ttg	p.M478L				P00736	C1R_HUMAN	complement component 1, r subcomponent	530	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16					Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CCTAGCTTCATGAGCTCTTCC	0.562																																						ENST00000542285.1																			0				endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16						c.(1432-1434)Atg>Ttg		complement component 1, r subcomponent	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						122.0	130.0	127.0					12																	7188366		2199	4298	6497	SO:0001583	missense	715				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity	g.chr12:7188366T>A	M14058		12p13.31	2014-05-14			ENSG00000159403	ENSG00000159403	3.4.21.41	"""Complement system"""	1246	protein-coding gene	gene with protein product		613785					Standard	NM_001733		Approved		uc010sfy.2	P00736	OTTHUMG00000168149	ENST00000542285.1:c.1432A>T	12.37:g.7188366T>A	ENSP00000438615:p.Met478Leu						p.M478L			P00736	C1R_HUMAN			11	1581	-			530			Peptidase S1.		A6NJQ8|Q68D77|Q8J012	Missense_Mutation	SNP	ENST00000542285.1	37	c.1432A>T		.	.	.	.	.	.	.	.	.	.	T	1.330	-0.596966	0.03771	.	.	ENSG00000159403	ENST00000290575;ENST00000542285	D	0.88046	-2.33	5.18	2.86	0.33363	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	1.278400	0.05190	N	0.502986	T	0.75451	0.3851	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.59862	-0.7374	9	0.25106	T	0.35	.	0.8253	0.01119	0.2399:0.155:0.1292:0.4759	.	530	P00736	C1R_HUMAN	L	493;478	ENSP00000438615:M478L	ENSP00000290575:M493L	M	-	1	0	C1R	7058621	0.000000	0.05858	0.049000	0.19019	0.034000	0.12701	-0.455000	0.06762	0.814000	0.34374	0.482000	0.46254	ATG		0.562	C1R-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_001733		29	71	0	0	0	1	0	29	71				
LOC645166	645166	broad.mit.edu	37	1	148933289	148933289	+	lincRNA	SNP	A	A	G	rs9729175	byFrequency	TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr1:148933289A>G	ENST00000539543.1	+	0	176					NR_027355.2																						TGCTGCCCGCAGGATATTGTG	0.562													.|||	630	0.125799	0.112	0.1282	5008	,	,		27649	0.1796		0.0656	False		,,,				2504	0.1493					ENST00000539543.1																			0																																																			645166							g.chr1:148933289A>G																													1.37:g.148933289A>G								NR_027355.1						0	176	+									RNA	SNP	ENST00000539543.1	37																																																																																						0.562	RP11-14N7.2-201	KNOWN	basic	lincRNA	lincRNA				4	11	0	0	0	1	0	4	11				
TNR	7143	broad.mit.edu	37	1	175372390	175372390	+	Missense_Mutation	SNP	C	C	T	rs545876617		TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr1:175372390C>T	ENST00000367674.2	-	4	1570	c.862G>A	c.(862-864)Gtt>Att	p.V288I	TNR_ENST00000263525.2_Missense_Mutation_p.V288I			Q92752	TENR_HUMAN	tenascin R	288	Cys-rich.|EGF-like 4.				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)					TCCTCACCAACGTAGCCCTCC	0.632													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19633	0.0		0.0	False		,,,				2504	0.0					ENST00000367674.1																			0				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						c.(862-864)Gtt>Att		tenascin R							130.0	87.0	102.0					1																	175372390		2203	4300	6503	SO:0001583	missense	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175372390C>T	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.862G>A	1.37:g.175372390C>T	ENSP00000356646:p.Val288Ile					TNR_ENST00000263525.2_Missense_Mutation_p.V288I	p.V288I	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN			4	1570	-	Renal(580;0.146)		288			Cys-rich.|EGF-like 4.		C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	c.862G>A	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	C	8.963	0.971164	0.18659	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.11169	2.8;2.8	6.04	5.13	0.70059	EGF-like region, conserved site (2);	0.397332	0.25156	N	0.032701	T	0.05593	0.0147	N	0.03903	-0.33	0.09310	N	1	B;B	0.13594	0.008;0.001	B;B	0.06405	0.002;0.001	T	0.35773	-0.9775	10	0.21014	T	0.42	.	15.1299	0.72514	0.0:0.9318:0.0:0.0682	.	288;288	B4DIX8;Q92752	.;TENR_HUMAN	I	288	ENSP00000356646:V288I;ENSP00000263525:V288I	ENSP00000263525:V288I	V	-	1	0	TNR	173639013	0.000000	0.05858	0.099000	0.21106	0.447000	0.32167	0.613000	0.24299	1.568000	0.49683	0.561000	0.74099	GTT		0.632	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		22	36	0	0	0	1	0	22	36				
HLA-A	3105	broad.mit.edu	37	6	29910693	29910693	+	Missense_Mutation	SNP	A	A	G	rs41559716	byFrequency	TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr6:29910693A>G	ENST00000396634.1	+	4	574	c.233A>G	c.(232-234)cAg>cGg	p.Q78R	HLA-A_ENST00000376806.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376809.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376802.2_Missense_Mutation_p.Q78R			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	78	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)	p.Q78R(2)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TGGATAGAGCAGGAGGGGCCG	0.657									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																												ENST00000396634.1																			2	Substitution - Missense(2)	p.Q78R(2)	lung(1)|endometrium(1)	central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						c.(232-234)cAg>cGg		major histocompatibility complex, class I, A							54.0	57.0	56.0					6																	29910693		2203	4299	6502	SO:0001583	missense	3105	Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29910693A>G	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.233A>G	6.37:g.29910693A>G	ENSP00000379873:p.Gln78Arg	Multiple Myeloma(9;0.094)				HLA-A_ENST00000376809.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376806.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376802.2_Missense_Mutation_p.Q78R	p.Q78R			P30443	1A01_HUMAN			4	574	+			78			Alpha-1.		O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Missense_Mutation	SNP	ENST00000396634.1	37	c.233A>G	CCDS34373.1	.	.	.	.	.	.	.	.	.	.	.	9.798	1.179669	0.21787	.	.	ENSG00000206503	ENST00000396634;ENST00000376806;ENST00000376809;ENST00000355767;ENST00000376802	T;T;T;T	0.00784	5.7;5.7;5.7;5.7	3.72	-4.39	0.03611	MHC class I, alpha chain, alpha1/alpha2 (3);MHC classes I/II-like antigen recognition protein (3);MHC class I-like antigen recognition (3);	1.398580	0.06189	N	0.681068	T	0.00815	0.0027	L	0.56280	1.765	0.09310	N	1	B;P;B;P;B	0.42483	0.0;0.781;0.0;0.781;0.0	B;D;B;D;B	0.71184	0.006;0.972;0.01;0.972;0.01	T	0.44952	-0.9294	10	0.87932	D	0	.	0.9552	0.01384	0.3504:0.1689:0.3159:0.1647	rs41559716	78;78;78;78;78	P13746;Q5SRN7;P16188;Q5SRN5;P04439	1A11_HUMAN;.;1A30_HUMAN;.;1A03_HUMAN	R	78	ENSP00000379873:Q78R;ENSP00000366002:Q78R;ENSP00000366005:Q78R;ENSP00000365998:Q78R	ENSP00000348012:Q78R	Q	+	2	0	HLA-A	30018672	0.000000	0.05858	0.000000	0.03702	0.093000	0.18481	-0.990000	0.03732	-0.910000	0.03847	-0.450000	0.05554	CAG		0.657	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116		4	25	0	0	0	1	0	4	25				
RELN	5649	broad.mit.edu	37	7	103341355	103341355	+	Splice_Site	SNP	A	A	G			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr7:103341355A>G	ENST00000428762.1	-	9	1062		c.e9+1		RELN_ENST00000343529.5_Splice_Site|RELN_ENST00000424685.2_Splice_Site	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin						associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ATTACAACAAACCTAATTTTC	0.368																																					NSCLC(146;835 1944 15585 22231 52158)	ENST00000428762.1																			0				NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.e9+1		reelin							91.0	93.0	92.0					7																	103341355		2203	4300	6503	SO:0001630	splice_region_variant	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103341355A>G		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.902+1T>C	7.37:g.103341355A>G						RELN_ENST00000343529.5_Splice_Site|RELN_ENST00000424685.2_Splice_Site		NM_005045.3	NP_005036.2	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	9	1062	-								A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Splice_Site	SNP	ENST00000428762.1	37		CCDS47680.1	.	.	.	.	.	.	.	.	.	.	A	27.1	4.795792	0.90453	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	.	.	.	5.75	5.75	0.90469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0581	0.80820	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RELN	103128591	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	8.462000	0.90374	2.200000	0.70718	0.477000	0.44152	.		0.368	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045	Intron	18	57	0	0	0	1	0	18	57				
SH3TC1	54436	broad.mit.edu	37	4	8229851	8229851	+	Silent	SNP	G	G	T			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr4:8229851G>T	ENST00000245105.3	+	12	2497	c.2430G>T	c.(2428-2430)acG>acT	p.T810T	SH3TC1_ENST00000539824.1_Silent_p.T734T	NM_018986.3	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	810										NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						CCTTCATGACGCAGGCAGTGG	0.692																																					NSCLC(145;2298 2623 35616 37297)	ENST00000539824.1																			0				NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(2200-2202)acG>acT		SH3 domain and tetratricopeptide repeats 1							41.0	37.0	39.0					4																	8229851		2201	4298	6499	SO:0001819	synonymous_variant	54436						binding	g.chr4:8229851G>T	AK074093	CCDS3399.1	4p16.1	2013-01-11			ENSG00000125089	ENSG00000125089		"""Tetratricopeptide (TTC) repeat domain containing"""	26009	protein-coding gene	gene with protein product							Standard	NM_018986		Approved	FLJ20356	uc003gkv.4	Q8TE82	OTTHUMG00000160934	ENST00000245105.3:c.2430G>T	4.37:g.8229851G>T						SH3TC1_ENST00000245105.3_Silent_p.T810T	p.T734T			Q8TE82	S3TC1_HUMAN			12	2576	+			810					Q4W5G5	Silent	SNP	ENST00000245105.3	37	c.2202G>T	CCDS3399.1																																																																																				0.692	SH3TC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206991.2	NM_018986		14	17	1	0	4.3838e-07	1	4.72102e-07	14	17				
IPP	3652	broad.mit.edu	37	1	46206944	46206944	+	Missense_Mutation	SNP	T	T	A			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr1:46206944T>A	ENST00000396478.3	-	3	455	c.353A>T	c.(352-354)cAg>cTg	p.Q118L		NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	118						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	actin binding (GO:0003779)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					TTCAGTCAACTGTAGCATGTC	0.373																																						ENST00000396478.3																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20						c.(352-354)cAg>cTg		intracisternal A particle-promoted polypeptide							59.0	59.0	59.0					1																	46206944		2203	4300	6503	SO:0001583	missense	3652					actin cytoskeleton|cytoplasm	actin binding	g.chr1:46206944T>A	BC032544	CCDS30702.1, CCDS44132.1	1p34-p32	2013-01-30			ENSG00000197429	ENSG00000197429		"""Kelch-like"", ""BTB/POZ domain containing"""	6108	protein-coding gene	gene with protein product	"""kelch-like family member 27"""	147485				1905535, 8432546	Standard	NM_005897		Approved	KLHL27	uc001cou.3	Q9Y573	OTTHUMG00000008004	ENST00000396478.3:c.353A>T	1.37:g.46206944T>A	ENSP00000379739:p.Gln118Leu						p.Q118L	NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN			3	455	-	Acute lymphoblastic leukemia(166;0.155)		118					A2A6V4|D3DQ11|Q8N5C3	Missense_Mutation	SNP	ENST00000396478.3	37	c.353A>T	CCDS30702.1	.	.	.	.	.	.	.	.	.	.	T	17.46	3.394146	0.62066	.	.	ENSG00000197429	ENST00000359942;ENST00000396478	T;T	0.69040	-0.37;-0.37	5.41	5.41	0.78517	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.163303	0.56097	D	0.000031	T	0.65302	0.2678	L	0.59912	1.85	0.80722	D	1	B;B	0.17667	0.006;0.023	B;B	0.18263	0.019;0.021	T	0.64723	-0.6340	10	0.87932	D	0	.	15.7362	0.77846	0.0:0.0:0.0:1.0	.	118;118	Q9Y573;A2A6V3	IPP_HUMAN;.	L	118	ENSP00000353024:Q118L;ENSP00000379739:Q118L	ENSP00000353024:Q118L	Q	-	2	0	IPP	45979531	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.606000	0.82863	2.183000	0.69458	0.533000	0.62120	CAG		0.373	IPP-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021974.3	NM_005897		23	59	0	0	0	1	0	23	59				
RASGRP3	25780	broad.mit.edu	37	2	33774797	33774797	+	Silent	SNP	C	C	T			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr2:33774797C>T	ENST00000403687.3	+	14	2261	c.1521C>T	c.(1519-1521)ttC>ttT	p.F507F	RASGRP3_ENST00000407811.1_Silent_p.F506F|RASGRP3_ENST00000402538.3_Silent_p.F507F	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	507					MAPK cascade (GO:0000165)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)	guanyl-nucleotide exchange factor complex (GO:0032045)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|guanyl-nucleotide exchange factor activity (GO:0005085)|Rap GTPase activator activity (GO:0046582)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					AGCCAACCTTCTGCGAACACT	0.393																																						ENST00000403687.3																			0				large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11						c.(1519-1521)ttC>ttT		RAS guanyl releasing protein 3 (calcium and DAG-regulated)							175.0	155.0	161.0					2																	33774797		1879	4107	5986	SO:0001819	synonymous_variant	25780				MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity	g.chr2:33774797C>T	AB020653	CCDS46256.1, CCDS54346.1	2p25.1-p24.1	2013-01-10			ENSG00000152689	ENSG00000152689		"""EF-hand domain containing"""	14545	protein-coding gene	gene with protein product		609531				10048485, 10934204	Standard	NM_170672		Approved	KIAA0846, GRP3	uc002roy.3	Q8IV61	OTTHUMG00000152124	ENST00000403687.3:c.1521C>T	2.37:g.33774797C>T						RASGRP3_ENST00000407811.1_Silent_p.F506F|RASGRP3_ENST00000402538.3_Silent_p.F507F	p.F507F	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN			14	2261	+	all_hematologic(175;0.115)		507					D6W583|O94931|Q53SD7	Silent	SNP	ENST00000403687.3	37	c.1521C>T	CCDS46256.1																																																																																				0.393	RASGRP3-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325462.2	NM_015376		9	21	0	0	0	1	0	9	21				
AHNAK	79026	broad.mit.edu	37	11	62289209	62289209	+	Missense_Mutation	SNP	T	T	C			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr11:62289209T>C	ENST00000378024.4	-	5	12954	c.12680A>G	c.(12679-12681)gAt>gGt	p.D4227G	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4227					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ATCAGGAACATCAATGTCCAC	0.512																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(12679-12681)gAt>gGt		AHNAK nucleoprotein							233.0	238.0	236.0					11																	62289209		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62289209T>C	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.12680A>G	11.37:g.62289209T>C	ENSP00000367263:p.Asp4227Gly					AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	p.D4227G	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	12954	-		Melanoma(852;0.155)	4227					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.12680A>G	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	t	7.467	0.645915	0.14451	.	.	ENSG00000124942	ENST00000378024	T	0.00882	5.58	4.73	4.73	0.59995	.	1.531070	0.04277	N	0.343205	T	0.02380	0.0073	M	0.80982	2.52	0.21841	N	0.999517	P	0.35272	0.493	B	0.35971	0.215	T	0.55742	-0.8093	10	0.21540	T	0.41	.	8.6803	0.34205	0.0:0.087:0.0:0.913	.	4227	Q09666	AHNK_HUMAN	G	4227	ENSP00000367263:D4227G	ENSP00000367263:D4227G	D	-	2	0	AHNAK	62045785	0.000000	0.05858	0.814000	0.32528	0.024000	0.10985	0.894000	0.28350	1.785000	0.52413	0.444000	0.29173	GAT		0.512	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		161	224	0	0	0	1	0	161	224				
GTF3C4	9329	broad.mit.edu	37	9	135553821	135553821	+	Missense_Mutation	SNP	G	G	T			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr9:135553821G>T	ENST00000372146.4	+	2	1379	c.815G>T	c.(814-816)gGc>gTc	p.G272V	GTF3C4_ENST00000483873.2_Intron	NM_012204.2	NP_036336.2	Q9UKN8	TF3C4_HUMAN	general transcription factor IIIC, polypeptide 4, 90kDa	272					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|positive regulation of catalytic activity (GO:0043085)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)|enzyme activator activity (GO:0008047)|histone acetyltransferase activity (GO:0004402)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)		CGGGACGTTGGCAGTGTGCTC	0.517																																					Pancreas(142;417 1875 11086 31973 47667)	ENST00000372146.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	20						c.(814-816)gGc>gTc		general transcription factor IIIC, polypeptide 4, 90kDa							131.0	125.0	127.0					9																	135553821		2203	4300	6503	SO:0001583	missense	9329				transcription initiation from RNA polymerase III promoter	transcription factor TFIIIC complex	DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding	g.chr9:135553821G>T	AF142328	CCDS6953.1	9q34.3	2011-07-01	2002-08-29		ENSG00000125484	ENSG00000125484		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""General transcription factors"""	4667	protein-coding gene	gene with protein product		604892	"""general transcription factor IIIC, polypeptide 4 (90kD)"""			10523658	Standard	NM_012204		Approved	TFIIIC90, KAT12	uc010mzv.3	Q9UKN8	OTTHUMG00000020842	ENST00000372146.4:c.815G>T	9.37:g.135553821G>T	ENSP00000361219:p.Gly272Val					GTF3C4_ENST00000483873.2_Intron	p.G272V	NM_012204.2	NP_036336.2	Q9UKN8	TF3C4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)	2	1379	+			272					Q5VZJ7	Missense_Mutation	SNP	ENST00000372146.4	37	c.815G>T	CCDS6953.1	.	.	.	.	.	.	.	.	.	.	G	15.80	2.941388	0.53079	.	.	ENSG00000125484	ENST00000372146	T	0.63744	-0.06	5.82	4.92	0.64577	Transcription factor IIIC, 90kDa subunit, N-terminal (1);	0.254262	0.46758	D	0.000272	T	0.44030	0.1274	N	0.08118	0	0.47737	D	0.999509	B	0.18166	0.026	B	0.20577	0.03	T	0.39840	-0.9594	10	0.62326	D	0.03	-23.7336	13.7589	0.62954	0.0744:0.0:0.9256:0.0	.	272	Q9UKN8	TF3C4_HUMAN	V	272	ENSP00000361219:G272V	ENSP00000361219:G272V	G	+	2	0	GTF3C4	134543642	1.000000	0.71417	0.982000	0.44146	0.826000	0.46750	5.788000	0.69020	1.471000	0.48121	0.561000	0.74099	GGC		0.517	GTF3C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054792.1			65	90	1	0	6.52717e-41	1	7.7441e-41	65	90				
GNRHR	2798	broad.mit.edu	37	4	68619758	68619758	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr4:68619758C>T	ENST00000226413.4	-	1	320	c.296G>A	c.(295-297)gGg>gAg	p.G99E	GNRHR_ENST00000420975.2_Missense_Mutation_p.G99E|UBA6-AS1_ENST00000502758.1_RNA|UBA6-AS1_ENST00000500538.2_RNA	NM_000406.2	NP_000397.1	P30968	GNRHR_HUMAN	gonadotropin-releasing hormone receptor	99					cellular response to gonadotropin-releasing hormone (GO:0097211)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	gonadotropin-releasing hormone receptor activity (GO:0004968)			endometrium(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	13					Abarelix(DB00106)|Buserelin(DB06719)|Cetrorelix(DB00050)|Danazol(DB01406)|Degarelix(DB06699)|Gonadorelin(DB00644)|Goserelin(DB00014)|Leuprolide(DB00007)|Nafarelin(DB00666)	GTTCCACATCCCATCCAGTGG	0.433																																						ENST00000226413.4																			0				endometrium(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	13						c.(295-297)gGg>gAg		gonadotropin-releasing hormone receptor	Abarelix(DB00106)|Cetrorelix(DB00050)|Danazol(DB01406)|Gonadorelin(DB00644)|Leuprolide(DB00007)|Nafarelin(DB00666)						114.0	107.0	109.0					4																	68619758		2203	4300	6503	SO:0001583	missense	2798				multicellular organismal development	integral to plasma membrane	gonadotropin-releasing hormone receptor activity	g.chr4:68619758C>T		CCDS3517.1, CCDS47064.1	4q21.2	2012-08-08			ENSG00000109163	ENSG00000109163		"""GPCR / Class A : Gonadotropin-releasing hormone receptors"""	4421	protein-coding gene	gene with protein product		138850		GRHR		8386108	Standard	NM_000406		Approved	LHRHR	uc003hdn.3	P30968	OTTHUMG00000129302	ENST00000226413.4:c.296G>A	4.37:g.68619758C>T	ENSP00000226413:p.Gly99Glu					RP11-453E17.1_ENST00000502758.1_RNA|GNRHR_ENST00000420975.2_Missense_Mutation_p.G99E|RP11-453E17.1_ENST00000500538.2_RNA	p.G99E	NM_000406.2	NP_000397.1	P30968	GNRHR_HUMAN			1	320	-			99					O75793|Q14D13|Q92644	Missense_Mutation	SNP	ENST00000226413.4	37	c.296G>A	CCDS3517.1	.	.	.	.	.	.	.	.	.	.	C	13.84	2.356753	0.41801	.	.	ENSG00000109163	ENST00000226413;ENST00000420975	T;T	0.37915	1.17;1.17	6.17	5.33	0.75918	GPCR, rhodopsin-like superfamily (1);	0.090164	0.48767	D	0.000163	T	0.57227	0.2039	M	0.63843	1.955	0.44771	D	0.997771	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.60662	-0.7219	10	0.72032	D	0.01	-10.1603	13.8285	0.63366	0.0:0.7077:0.2923:0.0	.	99;99	P30968;P30968-2	GNRHR_HUMAN;.	E	99	ENSP00000226413:G99E;ENSP00000397561:G99E	ENSP00000226413:G99E	G	-	2	0	GNRHR	68302353	1.000000	0.71417	0.702000	0.30337	0.151000	0.21798	4.457000	0.60088	1.608000	0.50180	-0.176000	0.13171	GGG		0.433	GNRHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251432.2			33	63	0	0	0	1	0	33	63				
CTSD	1509	broad.mit.edu	37	11	1782670	1782670	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr11:1782670G>A	ENST00000236671.2	-	2	229	c.97C>T	c.(97-99)Cgc>Tgc	p.R33C	AC068580.1_ENST00000580120.1_RNA|AC068580.6_ENST00000449248.1_RNA|AC068580.5_ENST00000446489.1_RNA|RP11-295K3.1_ENST00000427721.1_5'Flank	NM_001909.4	NP_001900.1	P07339	CATD_HUMAN	cathepsin D	33					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|autophagic vacuole assembly (GO:0000045)|cell death (GO:0008219)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|mitochondrion (GO:0005739)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(1)|large_intestine(4)|lung(8)	13		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	ATGGTCCGGCGGATGGACGTG	0.662																																						ENST00000236671.2																			0				endometrium(1)|large_intestine(4)|lung(8)	13						c.(97-99)Cgc>Tgc		cathepsin D	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						48.0	47.0	48.0					11																	1782670		2200	4299	6499	SO:0001583	missense	1509				cell death|proteolysis	extracellular space|lysosome|melanosome	aspartic-type endopeptidase activity	g.chr11:1782670G>A	M11233	CCDS7725.1	11p15.5	2009-06-26	2006-12-05		ENSG00000117984	ENSG00000117984	3.4.23.5	"""Cathepsins"""	2529	protein-coding gene	gene with protein product	"""ceroid-lipofuscinosis, neuronal 10"""	116840	"""cathepsin D (lysosomal aspartyl protease)"""	CPSD		3927292	Standard	NM_001909		Approved	CLN10	uc001luc.2	P07339	OTTHUMG00000044760	ENST00000236671.2:c.97C>T	11.37:g.1782670G>A	ENSP00000236671:p.Arg33Cys					AC068580.6_ENST00000449248.1_RNA	p.R33C	NM_001909.4	NP_001900.1	P07339	CATD_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	2	229	-		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	33					Q6IB57	Missense_Mutation	SNP	ENST00000236671.2	37	c.97C>T	CCDS7725.1	.	.	.	.	.	.	.	.	.	.	g	15.57	2.873977	0.51695	.	.	ENSG00000117984	ENST00000236671;ENST00000438213	D;D	0.85556	-2.0;-2.0	3.82	3.82	0.43975	Peptidase aspartic (1);Propeptide, peptidase A1 (1);	0.000000	0.64402	D	0.000001	D	0.91717	0.7381	M	0.79343	2.45	0.58432	D	0.999998	D	0.89917	1.0	D	0.83275	0.996	D	0.92960	0.6388	10	0.87932	D	0	.	14.8531	0.70313	0.0:0.0:1.0:0.0	.	33	P07339	CATD_HUMAN	C	33;18	ENSP00000236671:R33C;ENSP00000415036:R18C	ENSP00000236671:R33C	R	-	1	0	CTSD	1739246	0.998000	0.40836	0.290000	0.24890	0.179000	0.23085	0.845000	0.27668	2.156000	0.67533	0.561000	0.74099	CGC		0.662	CTSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104272.5	NM_001909		8	32	0	0	0	1	0	8	32				
PCK2	5106	broad.mit.edu	37	14	24572812	24572812	+	Missense_Mutation	SNP	G	G	A	rs35618680	byFrequency	TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr14:24572812G>A	ENST00000216780.4	+	10	1830	c.1562G>A	c.(1561-1563)cGc>cAc	p.R521H	PCK2_ENST00000545054.2_Missense_Mutation_p.R387H|PCK2_ENST00000561286.1_Missense_Mutation_p.R387H|PCK2_ENST00000559250.1_Intron|PCK2_ENST00000558096.1_Missense_Mutation_p.R355H|NRL_ENST00000561028.1_Intron	NM_004563.2	NP_004554.2	Q16822	PCKGM_HUMAN	phosphoenolpyruvate carboxykinase 2 (mitochondrial)	521			R -> H (in dbSNP:rs35618680).		carbohydrate metabolic process (GO:0005975)|cellular response to glucose stimulus (GO:0071333)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|NADH oxidation (GO:0006116)|oxaloacetate metabolic process (GO:0006107)|positive regulation of insulin secretion (GO:0032024)|pyruvate metabolic process (GO:0006090)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613)|phosphoenolpyruvate carboxykinase activity (GO:0004611)	p.R521H(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(265;0.0184)		ATGGAAGGGCGCAAGGGGGCC	0.607													G|||	429	0.0856629	0.0961	0.049	5008	,	,		20502	0.0476		0.0855	False		,,,				2504	0.137					ENST00000545054.2																			1	Substitution - Missense(1)	p.R521H(1)	ovary(1)	breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18						c.(1159-1161)cGc>cAc		phosphoenolpyruvate carboxykinase 2 (mitochondrial)		G	HIS/ARG	387,4019	195.0+/-219.7	24,339,1840	73.0	74.0	74.0		1562	0.5	1.0	14	dbSNP_126	74	784,7816	185.9+/-233.5	35,714,3551	yes	missense	PCK2	NM_004563.2	29	59,1053,5391	AA,AG,GG		9.1163,8.7835,9.0035	benign	521/641	24572812	1171,11835	2203	4300	6503	SO:0001583	missense	5106				gluconeogenesis	mitochondrial matrix	GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity	g.chr14:24572812G>A	AK129934	CCDS9609.1, CCDS41928.1	14q12	2006-06-09			ENSG00000100889	ENSG00000100889	4.1.1.32		8725	protein-coding gene	gene with protein product		614095				8645161, 9657976	Standard	XM_005267726		Approved	PEPCK, PEPCK2	uc001wlt.3	Q16822	OTTHUMG00000028791	ENST00000216780.4:c.1562G>A	14.37:g.24572812G>A	ENSP00000216780:p.Arg521His					PCK2_ENST00000561286.1_Missense_Mutation_p.R387H|NRL_ENST00000561028.1_Intron|PCK2_ENST00000216780.4_Missense_Mutation_p.R521H|PCK2_ENST00000558096.1_Missense_Mutation_p.R355H|PCK2_ENST00000559250.1_Intron	p.R387H			Q16822	PCKGM_HUMAN		GBM - Glioblastoma multiforme(265;0.0184)	10	2078	+			521					O43253|Q86U01|Q9BV62	Missense_Mutation	SNP	ENST00000216780.4	37	c.1160G>A	CCDS9609.1	156	0.07142857142857142	39	0.07926829268292683	18	0.049723756906077346	28	0.04895104895104895	71	0.09366754617414248	G	14.74	2.624796	0.46840	0.087835	0.091163	ENSG00000100889	ENST00000216780;ENST00000545054	T;T	0.04758	3.56;3.56	5.57	0.531	0.17108	Phosphoenolpyruvate carboxykinase, C-terminal (1);	0.164213	0.53938	N	0.000058	T	0.00210	0.0006	L	0.57536	1.79	0.22017	P	0.999418817	B;B	0.17465	0.022;0.005	B;B	0.10450	0.005;0.003	T	0.19031	-1.0318	9	0.44086	T	0.13	-17.8654	5.7305	0.18036	0.282:0.0:0.591:0.1269	rs35618680;rs62000829	387;521	B4DW73;Q16822	.;PCKGM_HUMAN	H	521;387	ENSP00000216780:R521H;ENSP00000441826:R387H	ENSP00000216780:R521H	R	+	2	0	PCK2	23642652	0.992000	0.36948	0.993000	0.49108	0.981000	0.71138	2.017000	0.40981	-0.089000	0.12484	-0.140000	0.14226	CGC		0.607	PCK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071900.3	NM_001018073		5	61	0	0	0	1	0	5	61				
PLCL2	23228	broad.mit.edu	37	3	17131382	17131382	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr3:17131382C>T	ENST00000418129.2	+	6	3449	c.2984C>T	c.(2983-2985)gCa>gTa	p.A995V	PLCL2_ENST00000432376.1_Missense_Mutation_p.A995V	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	1121					B cell proliferation involved in immune response (GO:0002322)|B-1a B cell differentiation (GO:0002337)|gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|negative regulation of B cell receptor signaling pathway (GO:0050859)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GABA receptor binding (GO:0050811)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						CCCGAAAAAGCAAACGATGAA	0.428																																						ENST00000418129.2																			0				breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						c.(2983-2985)gCa>gTa		phospholipase C-like 2							63.0	61.0	62.0					3																	17131382		2203	4300	6503	SO:0001583	missense	23228				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:17131382C>T	AB029015	CCDS33713.1, CCDS74911.1	3p25.3-p25.1	2008-03-18	2002-02-18	2002-02-22	ENSG00000154822	ENSG00000154822			9064	protein-coding gene	gene with protein product		614276	"""phospholipase C, epsilon 2"""	PLCE2		10470851	Standard	NM_015184		Approved	KIAA1092	uc011awd.2	Q9UPR0	OTTHUMG00000155467	ENST00000418129.2:c.2984C>T	3.37:g.17131382C>T	ENSP00000409637:p.Ala995Val					PLCL2_ENST00000432376.1_Missense_Mutation_p.A995V	p.A995V	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN			6	3449	+			1121					A8K5V4|Q8N498|Q9H8L0|Q9UFP9	Missense_Mutation	SNP	ENST00000418129.2	37	c.2984C>T	CCDS33713.1	.	.	.	.	.	.	.	.	.	.	C	15.95	2.984701	0.53934	.	.	ENSG00000154822	ENST00000418129;ENST00000285094;ENST00000432376	T;T	0.17213	2.29;2.29	5.91	4.08	0.47627	.	0.058802	0.64402	D	0.000003	T	0.20495	0.0493	.	.	.	0.80722	D	1	D	0.54772	0.968	P	0.45428	0.48	T	0.01121	-1.1445	9	0.62326	D	0.03	.	10.8956	0.47021	0.1308:0.8022:0.0:0.0671	.	1121	Q9UPR0	PLCL2_HUMAN	V	995;1122;995	ENSP00000409637:A995V;ENSP00000412836:A995V	ENSP00000285094:A1122V	A	+	2	0	PLCL2	17106386	0.972000	0.33761	0.122000	0.21767	0.597000	0.36814	2.357000	0.44125	0.789000	0.33779	0.650000	0.86243	GCA		0.428	PLCL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340250.3			13	19	0	0	0	1	0	13	19				
CYLD	1540	broad.mit.edu	37	16	50811745	50811745	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr16:50811745C>G	ENST00000427738.3	+	7	1236	c.1031C>G	c.(1030-1032)tCa>tGa	p.S344*	CYLD_ENST00000311559.9_Nonsense_Mutation_p.S344*|CYLD_ENST00000566206.1_Nonsense_Mutation_p.S341*|CYLD_ENST00000569418.1_Nonsense_Mutation_p.S341*|CYLD_ENST00000398568.2_Nonsense_Mutation_p.S341*|CYLD_ENST00000568704.2_Nonsense_Mutation_p.S341*|CYLD_ENST00000564326.1_Nonsense_Mutation_p.S341*|CYLD_ENST00000540145.1_Nonsense_Mutation_p.S344*			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	344	Interaction with TRIP.				cell cycle (GO:0007049)|innate immune response (GO:0045087)|necroptotic process (GO:0070266)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|protein K63-linked deubiquitination (GO:0070536)|regulation of intrinsic apoptotic signaling pathway (GO:2001242)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of mitotic cell cycle (GO:0007346)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|microtubule (GO:0005874)|nucleus (GO:0005634)	Lys63-specific deubiquitinase activity (GO:0061578)|proline-rich region binding (GO:0070064)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				GGATCTACCTCAGACCCTGGA	0.284			"""Mis, N, F, S"""		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis																													ENST00000540145.1			yes	Rec	yes	Familial cylindromatosis	16	16q12-q13	1540	"""Mis, N, F, S"""	familial cylindromatosis gene			E		cylindroma	cylindroma		0				central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62						c.(1030-1032)tCa>tGa		cylindromatosis (turban tumor syndrome)							96.0	91.0	92.0					16																	50811745		1792	4047	5839	SO:0001587	stop_gained	1540	Multiple Trichoepithelioma, Familial;Familial Cylindromatosis	Familial Cancer Database	;FADC, Turban Tumor syndrome, Epithelioma Adenoides Cysticum of Brooke, Hereditary Multiple Benign Cystic Epithelioma, Dermal Eccrine Cylindromatosis, Brooke-Spiegler s.	cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr16:50811745C>G	AB020656	CCDS42164.1, CCDS45482.1	16q12-q13	2014-09-17							2584	protein-coding gene	gene with protein product	"""ubiquitin specific peptidase like 2"""	605018		CYLD1		7493027	Standard	NM_015247		Approved	KIAA0849, USPL2	uc002egq.1	Q9NQC7		ENST00000427738.3:c.1031C>G	16.37:g.50811745C>G	ENSP00000392025:p.Ser344*					CYLD_ENST00000569418.1_Nonsense_Mutation_p.S341*|CYLD_ENST00000568704.2_Nonsense_Mutation_p.S341*|CYLD_ENST00000566206.1_Nonsense_Mutation_p.S341*|CYLD_ENST00000564326.1_Nonsense_Mutation_p.S341*|CYLD_ENST00000311559.9_Nonsense_Mutation_p.S344*|CYLD_ENST00000427738.3_Nonsense_Mutation_p.S344*|CYLD_ENST00000398568.2_Nonsense_Mutation_p.S341*	p.S344*			Q9NQC7	CYLD_HUMAN			8	1446	+		all_cancers(37;0.0156)	344			Interaction with TRIP.		O94934|Q7L3N6|Q96EH0|Q9NZX9	Nonsense_Mutation	SNP	ENST00000427738.3	37	c.1031C>G	CCDS45482.1	.	.	.	.	.	.	.	.	.	.	C	37	6.508269	0.97624	.	.	ENSG00000083799	ENST00000540145;ENST00000311559;ENST00000427738;ENST00000398568	.	.	.	5.57	5.57	0.84162	.	0.193674	0.43260	D	0.000591	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	-7.5685	19.9074	0.97013	0.0:1.0:0.0:0.0	.	.	.	.	X	344;344;341;341	.	ENSP00000308928:S344X	S	+	2	0	CYLD	49369246	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.916000	0.75776	2.768000	0.95171	0.650000	0.86243	TCA		0.284	CYLD-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422998.2			22	43	0	0	0	1	0	22	43				
PLTP	5360	broad.mit.edu	37	20	44531153	44531153	+	Missense_Mutation	SNP	A	A	G			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr20:44531153A>G	ENST00000477313.1	-	10	1627	c.1033T>C	c.(1033-1035)Tct>Cct	p.S345P	PLTP_ENST00000420868.2_Missense_Mutation_p.S250P|PLTP_ENST00000372420.1_Missense_Mutation_p.S257P|PLTP_ENST00000354050.4_Missense_Mutation_p.S293P|PLTP_ENST00000372431.3_Missense_Mutation_p.S345P|PLTP_ENST00000542937.1_Missense_Mutation_p.S365P			P55058	PLTP_HUMAN	phospholipid transfer protein	345					lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|sperm motility (GO:0030317)|vitamin E biosynthetic process (GO:0010189)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	lipid binding (GO:0008289)			endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)	21		Myeloproliferative disorder(115;0.0122)				GCAGTGACAGAGATGGTGGTG	0.632																																						ENST00000542937.1																			0				endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)	21						c.(1093-1095)Tct>Cct		phospholipid transfer protein							64.0	59.0	60.0					20																	44531153		2203	4300	6503	SO:0001583	missense	5360				cellular lipid metabolic process|lipid transport	extracellular region	lipid binding	g.chr20:44531153A>G	L26232	CCDS13386.1, CCDS13387.1, CCDS56196.1, CCDS56197.1	20q13.12	2011-08-16			ENSG00000100979	ENSG00000100979		"""BPI fold containing"""	9093	protein-coding gene	gene with protein product	"""BPI fold containing family E"""	172425					Standard	NM_006227		Approved	BPIFE	uc002xqn.2	P55058	OTTHUMG00000033047	ENST00000477313.1:c.1033T>C	20.37:g.44531153A>G	ENSP00000417138:p.Ser345Pro					PLTP_ENST00000354050.4_Missense_Mutation_p.S293P|PLTP_ENST00000372420.1_Missense_Mutation_p.S257P|PLTP_ENST00000372431.3_Missense_Mutation_p.S345P|PLTP_ENST00000477313.1_Missense_Mutation_p.S345P|PLTP_ENST00000420868.2_Missense_Mutation_p.S250P	p.S365P			P55058	PLTP_HUMAN			10	1627	-		Myeloproliferative disorder(115;0.0122)	345					A8K006|B4DDD5|B4DRB4|E1P5N8|E7EV16|Q8WTT1|Q9BR07|Q9BSH8	Missense_Mutation	SNP	ENST00000477313.1	37	c.1093T>C	CCDS13386.1	.	.	.	.	.	.	.	.	.	.	A	16.06	3.016694	0.54468	.	.	ENSG00000100979	ENST00000372420;ENST00000372431;ENST00000354050;ENST00000477313;ENST00000542937;ENST00000420868	T;T;T;T;T;T	0.08008	3.14;3.14;3.14;3.14;3.14;3.14	5.28	1.66	0.24008	Lipid-binding serum glycoprotein, C-terminal (2);Bactericidal permeability-increasing protein, alpha/beta domain (1);	0.356949	0.32884	N	0.005528	T	0.18841	0.0452	L	0.60455	1.87	0.44417	D	0.997332	D;D;D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999;0.999;0.999	D;D;D;D;D;D;D	0.71184	0.969;0.969;0.972;0.969;0.953;0.969;0.969	T	0.00523	-1.1690	10	0.39692	T	0.17	-12.2367	7.9489	0.30003	0.6064:0.2663:0.0:0.1274	.	250;250;257;345;293;345;365	E7EV16;B4DRB4;B4DDD5;Q53H91;P55058-2;P55058;B3KUE5	.;.;.;.;.;PLTP_HUMAN;.	P	257;345;293;345;365;250	ENSP00000361497:S257P;ENSP00000361508:S345P;ENSP00000335290:S293P;ENSP00000417138:S345P;ENSP00000440296:S365P;ENSP00000411671:S250P	ENSP00000335290:S293P	S	-	1	0	PLTP	43964560	1.000000	0.71417	0.131000	0.22000	0.664000	0.39144	1.802000	0.38853	0.096000	0.17463	0.533000	0.62120	TCT		0.632	PLTP-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354633.1	NM_006227		20	46	0	0	0	1	0	20	46				
GCDH	2639	broad.mit.edu	37	19	13007751	13007751	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr19:13007751C>T	ENST00000222214.5	+	9	1091	c.880C>T	c.(880-882)Cgg>Tgg	p.R294W	GCDH_ENST00000457854.1_Missense_Mutation_p.R294W|GCDH_ENST00000591470.1_Missense_Mutation_p.R294W|GCDH_ENST00000422947.2_Missense_Mutation_p.R250W			Q92947	GCDH_HUMAN	glutaryl-CoA dehydrogenase	294	Substrate binding.		R -> W (in GA1).		cellular nitrogen compound metabolic process (GO:0034641)|fatty acid oxidation (GO:0019395)|fatty-acyl-CoA biosynthetic process (GO:0046949)|lysine catabolic process (GO:0006554)|small molecule metabolic process (GO:0044281)|tryptophan metabolic process (GO:0006568)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	fatty-acyl-CoA binding (GO:0000062)|flavin adenine dinucleotide binding (GO:0050660)|glutaryl-CoA dehydrogenase activity (GO:0004361)			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)	19					Flavin adenine dinucleotide(DB03147)	GAACAACGCCCGGTACGGCAT	0.617																																					GBM(123;875 1636 7726 16444 26754)	ENST00000222214.5																			0				autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)	19	GRCh37	CM980866	GCDH	M		c.(880-882)Cgg>Tgg		glutaryl-CoA dehydrogenase							50.0	44.0	46.0					19																	13007751		2203	4300	6503	SO:0001583	missense	2639				lysine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|glutaryl-CoA dehydrogenase activity|protein binding	g.chr19:13007751C>T	AF012342	CCDS12286.1	19p13.2	2010-04-30	2010-04-30			ENSG00000105607	1.3.99.7		4189	protein-coding gene	gene with protein product		608801	"""glutaryl-Coenzyme A dehydrogenase"""			1438360, 8088809	Standard	NM_000159		Approved	ACAD5	uc002mvq.4	Q92947		ENST00000222214.5:c.880C>T	19.37:g.13007751C>T	ENSP00000222214:p.Arg294Trp					GCDH_ENST00000422947.2_Missense_Mutation_p.R250W|GCDH_ENST00000457854.1_Missense_Mutation_p.R294W|GCDH_ENST00000591470.1_Missense_Mutation_p.R294W	p.R294W			Q92947	GCDH_HUMAN			9	1091	+			294		R -> W (in GA1).	Substrate binding.		A8K2Z2|O14719	Missense_Mutation	SNP	ENST00000222214.5	37	c.880C>T	CCDS12286.1	.	.	.	.	.	.	.	.	.	.	C	33	5.275542	0.95459	.	.	ENSG00000105607	ENST00000457854;ENST00000222214;ENST00000421816;ENST00000422947	D;D;D	0.99737	-6.59;-6.59;-6.59	5.39	5.39	0.77823	Acyl-CoA dehydrogenase/oxidase C-terminal (2);Acyl-CoA oxidase/dehydrogenase, type 1 (1);	0.000000	0.85682	D	0.000000	D	0.99878	0.9942	H	0.99516	4.605	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.96364	0.9268	10	0.87932	D	0	.	17.0114	0.86407	0.0:1.0:0.0:0.0	.	250;130;261;294;294	B4DK85;B4DUY0;B4DQF2;Q92947;Q92947-2	.;.;.;GCDH_HUMAN;.	W	294;294;261;250	ENSP00000394872:R294W;ENSP00000222214:R294W;ENSP00000394821:R250W	ENSP00000222214:R294W	R	+	1	2	GCDH	12868751	1.000000	0.71417	0.989000	0.46669	0.818000	0.46254	4.735000	0.62051	2.691000	0.91804	0.655000	0.94253	CGG		0.617	GCDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451897.1			10	27	0	0	0	1	0	10	27				
MS4A1	931	broad.mit.edu	37	11	60230543	60230543	+	Silent	SNP	C	C	T			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr11:60230543C>T	ENST00000534668.1	+	3	517	c.228C>T	c.(226-228)atC>atT	p.I76I	MS4A1_ENST00000534503.1_3'UTR|MS4A1_ENST00000345732.4_Silent_p.I76I|MS4A1_ENST00000528313.1_Intron|MS4A1_ENST00000389939.2_Silent_p.I76I|MS4A1_ENST00000532073.1_Silent_p.I76I	NM_152866.2	NP_690605.1	P11836	CD20_HUMAN	membrane-spanning 4-domains, subfamily A, member 1	76	Epitope 1.				B cell proliferation (GO:0042100)|humoral immune response (GO:0006959)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	MHC class II protein complex binding (GO:0023026)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					Ibritumomab(DB00078)|Obinutuzumab(DB08935)|Rituximab(DB00073)|Tositumomab(DB00081)	CAGCAGGGATCTATGCACCCA	0.512																																						ENST00000534668.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(226-228)atC>atT		membrane-spanning 4-domains, subfamily A, member 1	Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081)						117.0	115.0	116.0					11																	60230543		2203	4300	6503	SO:0001819	synonymous_variant	931				B cell activation|immune response	integral to plasma membrane		g.chr11:60230543C>T	M27394	CCDS31570.1	11q12-q13.1	2014-09-17				ENSG00000156738		"""CD molecules"""	7315	protein-coding gene	gene with protein product		112210		CD20		2448768	Standard	NM_152866		Approved	B1, Bp35, MS4A2	uc001npq.3	P11836		ENST00000534668.1:c.228C>T	11.37:g.60230543C>T						MS4A1_ENST00000345732.4_Silent_p.I76I|MS4A1_ENST00000528313.1_Intron|MS4A1_ENST00000534503.1_3'UTR|MS4A1_ENST00000532073.1_Silent_p.I76I|MS4A1_ENST00000389939.2_Silent_p.I76I	p.I76I	NM_152866.2	NP_690605.1	P11836	CD20_HUMAN			3	517	+			76			Epitope 1.		A6NMS4|B4DT24|P08984|Q13963	Silent	SNP	ENST00000534668.1	37	c.228C>T	CCDS31570.1																																																																																				0.512	MS4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395402.1			54	77	0	0	0	1	0	54	77				
TTN	7273	broad.mit.edu	37	2	179569383	179569383	+	Missense_Mutation	SNP	T	T	A			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr2:179569383T>A	ENST00000591111.1	-	103	29089	c.28865A>T	c.(28864-28866)gAa>gTa	p.E9622V	TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.E8695V|TTN_ENST00000589042.1_Missense_Mutation_p.E9939V|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13698					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCCAGTTTTTCAGTTCCTTT	0.338																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(29815-29817)gAa>gTa		titin							72.0	63.0	66.0					2																	179569383		1827	4086	5913	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179569383T>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.28865A>T	2.37:g.179569383T>A	ENSP00000465570:p.Glu9622Val					TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E9622V|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E8695V|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000592630.1_RNA	p.E9939V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		105	30040	-			9622			Pro-rich.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.29816A>T		.	.	.	.	.	.	.	.	.	.	T	12.44	1.940106	0.34283	.	.	ENSG00000155657	ENST00000342992	T	0.68765	-0.35	5.82	3.37	0.38596	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.52092	0.1713	N	0.25201	0.72	0.80722	D	1	B	0.06786	0.001	B	0.14578	0.011	T	0.46062	-0.9218	9	0.87932	D	0	.	11.1309	0.48347	0.2663:0.0:0.0:0.7336	.	9622	Q8WZ42	TITIN_HUMAN	V	8695	ENSP00000343764:E8695V	ENSP00000343764:E8695V	E	-	2	0	TTN	179277628	1.000000	0.71417	1.000000	0.80357	0.778000	0.44026	3.500000	0.53318	0.420000	0.25954	-0.301000	0.09380	GAA		0.338	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		4	18	0	0	0	1	0	4	18				
OR8I2	120586	broad.mit.edu	37	11	55860982	55860982	+	Missense_Mutation	SNP	G	G	T			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr11:55860982G>T	ENST00000302124.2	+	1	230	c.199G>T	c.(199-201)Gca>Tca	p.A67S		NM_001003750.1	NP_001003750.1	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	67						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					GAGCAATTTAGCATTTATTGA	0.393																																						ENST00000302124.2																			0				NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53						c.(199-201)Gca>Tca		olfactory receptor, family 8, subfamily I, member 2							227.0	217.0	220.0					11																	55860982		2201	4296	6497	SO:0001583	missense	120586				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55860982G>T	AB065656	CCDS31517.1	11q11	2012-08-09			ENSG00000172154	ENSG00000172154		"""GPCR / Class A : Olfactory receptors"""	15310	protein-coding gene	gene with protein product							Standard	NM_001003750		Approved		uc010rix.2	Q8N0Y5	OTTHUMG00000166831	ENST00000302124.2:c.199G>T	11.37:g.55860982G>T	ENSP00000303864:p.Ala67Ser					OR8I2_ENST00000560768.1_Missense_Mutation_p.A67S	p.A67S			Q8N0Y5	OR8I2_HUMAN			1	230	+	Esophageal squamous(21;0.00693)		67					B2RNN4|Q6IFC0|Q96RC5	Missense_Mutation	SNP	ENST00000302124.2	37	c.199G>T	CCDS31517.1	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.296646	0.00245	.	.	ENSG00000172154	ENST00000302124	T	0.01043	5.41	4.5	1.1	0.20463	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40144	U	0.001173	T	0.00328	0.0010	N	0.00131	-2.04	0.09310	N	1	B	0.21520	0.057	B	0.16289	0.015	T	0.48647	-0.9017	10	0.02654	T	1	-12.4278	13.1232	0.59338	0.0:0.0:0.3903:0.6097	.	67	Q8N0Y5	OR8I2_HUMAN	S	67	ENSP00000303864:A67S	ENSP00000303864:A67S	A	+	1	0	OR8I2	55617558	0.000000	0.05858	0.407000	0.26434	0.002000	0.02628	-0.244000	0.08903	0.390000	0.25115	0.440000	0.28878	GCA		0.393	OR8I2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001003750		90	142	1	0	1.92282e-43	1	2.30081e-43	90	142				
WDR19	57728	broad.mit.edu	37	4	39246165	39246165	+	Missense_Mutation	SNP	A	A	G			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr4:39246165A>G	ENST00000399820.3	+	23	2792	c.2638A>G	c.(2638-2640)Aag>Gag	p.K880E	WDR19_ENST00000288634.7_Missense_Mutation_p.K720E	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	880					ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium assembly (GO:0042384)|digestive system development (GO:0055123)|ear morphogenesis (GO:0042471)|embryonic camera-type eye development (GO:0031076)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|in utero embryonic development (GO:0001701)|intraciliary retrograde transport (GO:0035721)|myotome development (GO:0061055)|neurological system process (GO:0050877)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|motile cilium (GO:0031514)|nonmotile primary cilium (GO:0031513)|photoreceptor connecting cilium (GO:0032391)				large_intestine(1)	1						CATCCGCTCTAAGAATTGGTA	0.433																																						ENST00000399820.3																			0				large_intestine(1)	1						c.(2638-2640)Aag>Gag		WD repeat domain 19							93.0	91.0	92.0					4																	39246165		1903	4110	6013	SO:0001583	missense	57728				cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding	g.chr4:39246165A>G	AB046858, AY029257	CCDS47042.1	4p14	2014-02-21			ENSG00000157796	ENSG00000157796		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	18340	protein-coding gene	gene with protein product	"""intraflagellar transport 144 homolog (Chlamydomonas)"""	608151				12906858, 22019273	Standard	XM_005262658		Approved	Pwdmp, KIAA1638, FLJ23127, ORF26, DYF-2, Oseg6, IFT144, NPHP13	uc003gtv.3	Q8NEZ3	OTTHUMG00000160466	ENST00000399820.3:c.2638A>G	4.37:g.39246165A>G	ENSP00000382717:p.Lys880Glu					WDR19_ENST00000288634.7_Missense_Mutation_p.K720E	p.K880E	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN			23	2792	+			880					B5MEF2|Q8N5B4|Q9H5S0|Q9HCD4	Missense_Mutation	SNP	ENST00000399820.3	37	c.2638A>G	CCDS47042.1	.	.	.	.	.	.	.	.	.	.	A	26.5	4.742432	0.89573	.	.	ENSG00000157796	ENST00000399820;ENST00000288634	T;T	0.76186	-1.0;-1.0	5.5	5.5	0.81552	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	D	0.87293	0.6141	M	0.90252	3.1	0.80722	D	1	D	0.64830	0.994	D	0.66497	0.944	D	0.87270	0.2285	10	0.28530	T	0.3	-22.2923	15.6078	0.76689	1.0:0.0:0.0:0.0	.	880	Q8NEZ3	WDR19_HUMAN	E	880;720	ENSP00000382717:K880E;ENSP00000288634:K720E	ENSP00000288634:K720E	K	+	1	0	WDR19	38922560	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	9.242000	0.95408	2.080000	0.62538	0.477000	0.44152	AAG		0.433	WDR19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360689.1			14	37	0	0	0	1	0	14	37				
PRELP	5549	broad.mit.edu	37	1	203453090	203453090	+	Missense_Mutation	SNP	G	G	A	rs137872837		TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr1:203453090G>A	ENST00000343110.2	+	2	905	c.778G>A	c.(778-780)Gga>Aga	p.G260R		NM_002725.3|NM_201348.1	NP_002716.1|NP_958505.1	P51888	PRELP_HUMAN	proline/arginine-rich end leucine-rich repeat protein	260					carbohydrate metabolic process (GO:0005975)|cell aging (GO:0007569)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			BRCA - Breast invasive adenocarcinoma(75;0.109)			CATCCCTAACGGATACTTCAA	0.507																																						ENST00000343110.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(778-780)Gga>Aga		proline/arginine-rich end leucine-rich repeat protein		G	ARG/GLY,ARG/GLY	0,4406		0,0,2203	118.0	120.0	119.0		778,778	3.8	0.1	1	dbSNP_134	119	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	PRELP	NM_002725.3,NM_201348.1	125,125	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	260/383,260/383	203453090	1,13005	2203	4300	6503	SO:0001583	missense	5549				skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent	g.chr1:203453090G>A	BC032498	CCDS1438.1	1q32	2008-02-05	2005-07-24		ENSG00000188783	ENSG00000188783		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	9357	protein-coding gene	gene with protein product	"""prolargin proteoglycan"""	601914	"""proline arginine-rich end leucine-rich repeat protein"""				Standard	NM_002725		Approved	SLRR2A, prolargin	uc001gzt.3	P51888	OTTHUMG00000035911	ENST00000343110.2:c.778G>A	1.37:g.203453090G>A	ENSP00000343924:p.Gly260Arg						p.G260R	NM_002725.3|NM_201348.1	NP_002716.1|NP_958505.1	P51888	PRELP_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		2	905	+			260					Q6FG38	Missense_Mutation	SNP	ENST00000343110.2	37	c.778G>A	CCDS1438.1	.	.	.	.	.	.	.	.	.	.	G	11.38	1.621779	0.28889	0.0	1.16E-4	ENSG00000188783	ENST00000343110	T	0.58060	0.36	4.77	3.85	0.44370	.	0.129707	0.49916	D	0.000137	T	0.46054	0.1373	L	0.43598	1.365	0.23869	N	0.996611	P	0.44260	0.83	B	0.44315	0.446	T	0.33929	-0.9849	10	0.27785	T	0.31	-11.342	11.1095	0.48223	0.0911:0.0:0.9089:0.0	.	260	P51888	PRELP_HUMAN	R	260	ENSP00000343924:G260R	ENSP00000343924:G260R	G	+	1	0	PRELP	201719713	0.996000	0.38824	0.056000	0.19401	0.065000	0.16274	6.572000	0.74005	2.214000	0.71695	0.462000	0.41574	GGA		0.507	PRELP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087474.1	NM_002725		30	91	0	0	0	1	0	30	91				
OR2B2	81697	broad.mit.edu	37	6	27879751	27879751	+	Missense_Mutation	SNP	G	G	T			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr6:27879751G>T	ENST00000303324.2	-	1	423	c.347C>A	c.(346-348)gCc>gAc	p.A116D		NM_033057.2	NP_149046.2	Q9GZK3	OR2B2_HUMAN	olfactory receptor, family 2, subfamily B, member 2	116						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						GCACATGACGGCCAGGAGAAG	0.483																																						ENST00000303324.2																			0				cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						c.(346-348)gCc>gAc		olfactory receptor, family 2, subfamily B, member 2							105.0	95.0	99.0					6																	27879751		2203	4300	6503	SO:0001583	missense	81697				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:27879751G>T	Z98744	CCDS4641.1	6p22.3-p21.3	2014-02-19	2002-02-28		ENSG00000168131	ENSG00000168131		"""GPCR / Class A : Olfactory receptors"""	13966	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily B, member 9"""	OR2B9			Standard	NM_033057		Approved	hs6M1-10, OR6-1, OR2B2Q	uc011dkw.2	Q9GZK3	OTTHUMG00000014495	ENST00000303324.2:c.347C>A	6.37:g.27879751G>T	ENSP00000304419:p.Ala116Asp						p.A116D	NM_033057.2	NP_149046.2	Q9GZK3	OR2B2_HUMAN			1	423	-			116					B2RNH2|Q9GZL2|Q9Y299	Missense_Mutation	SNP	ENST00000303324.2	37	c.347C>A	CCDS4641.1	.	.	.	.	.	.	.	.	.	.	G	13.72	2.322479	0.41096	.	.	ENSG00000168131	ENST00000303324	T	0.02067	4.47	4.52	2.68	0.31781	GPCR, rhodopsin-like superfamily (1);	0.190802	0.24433	U	0.038568	T	0.09949	0.0244	H	0.98738	4.315	0.24296	N	0.995143	D	0.56287	0.975	P	0.55455	0.776	T	0.22661	-1.0210	10	0.87932	D	0	.	13.5907	0.61959	0.0:0.2436:0.7564:0.0	.	116	Q9GZK3	OR2B2_HUMAN	D	116	ENSP00000304419:A116D	ENSP00000304419:A116D	A	-	2	0	OR2B2	27987730	0.000000	0.05858	0.617000	0.29091	0.235000	0.25334	0.913000	0.28611	0.549000	0.28973	0.563000	0.77884	GCC		0.483	OR2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040163.1			23	63	1	0	4.54149e-19	1	5.34292e-19	23	63				
DENND4A	10260	broad.mit.edu	37	15	65995210	65995210	+	Splice_Site	SNP	C	C	T			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr15:65995210C>T	ENST00000431932.2	-	16	2432		c.e16+1		DENND4A_ENST00000443035.3_Splice_Site	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A						positive regulation of Rab GTPase activity (GO:0032851)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						TGATAAAGTACCTGTTTTGTT	0.313																																						ENST00000443035.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						c.e16+1		DENN/MADD domain containing 4A							184.0	173.0	176.0					15																	65995210		1821	4075	5896	SO:0001630	splice_region_variant	10260				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr15:65995210C>T	AF534403	CCDS45285.1, CCDS53949.1	15q22.31	2012-10-03	2006-01-27	2006-01-27				"""DENN/MADD domain containing"""	24321	protein-coding gene	gene with protein product		600382	"""c-myc promoter binding protein"""	MYCPBP		8056341, 12906859	Standard	NM_005848		Approved	IRLB	uc002api.3	Q7Z401		ENST00000431932.2:c.2223+1G>A	15.37:g.65995210C>T						DENND4A_ENST00000431932.2_Splice_Site		NM_001144823.1	NP_001138295.1	Q7Z401	MYCPP_HUMAN			16	2439	-								E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93	Splice_Site	SNP	ENST00000431932.2	37		CCDS45285.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.770782	0.90108	.	.	ENSG00000174485	ENST00000443035;ENST00000431932	.	.	.	5.78	5.78	0.91487	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2021	0.89842	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DENND4A	63782264	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	6.453000	0.73488	2.735000	0.93741	0.650000	0.86243	.		0.313	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419611.1	NM_005848	Intron	28	71	0	0	0	1	0	28	71				
TMEM8A	58986	broad.mit.edu	37	16	425405	425405	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr16:425405C>T	ENST00000431232.2	-	7	1415	c.1255G>A	c.(1255-1257)Gcc>Acc	p.A419T	TMEM8A_ENST00000250930.3_Missense_Mutation_p.A226T|TMEM8A_ENST00000476735.1_5'Flank	NM_021259.2	NP_067082.2	Q9HCN3	TMM8A_HUMAN	transmembrane protein 8A	419					cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						TTCACGCAGGCCACTACGACG	0.647																																						ENST00000431232.2																			0				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						c.(1255-1257)Gcc>Acc		transmembrane protein 8A							108.0	90.0	96.0					16																	425405		2202	4299	6501	SO:0001583	missense	58986				cell adhesion	integral to plasma membrane		g.chr16:425405C>T	AB045292	CCDS10407.1	16p13.3	2009-06-12	2009-06-12	2009-06-12	ENSG00000129925	ENSG00000129925			17205	protein-coding gene	gene with protein product			"""transmembrane protein 6"", ""transmembrane protein 8 (five membrane-spanning domains)"""	TMEM6, TMEM8		11006113	Standard	NM_021259		Approved	M83	uc002cgu.4	Q9HCN3	OTTHUMG00000047996	ENST00000431232.2:c.1255G>A	16.37:g.425405C>T	ENSP00000401338:p.Ala419Thr					TMEM8A_ENST00000250930.3_Missense_Mutation_p.A226T	p.A419T	NM_021259.2	NP_067082.2	Q9HCN3	TMM8A_HUMAN			7	1415	-			419					D3DU49|Q4TT35|Q8WU24|Q96S25|Q9BR03|Q9BT97|Q9H7B9	Missense_Mutation	SNP	ENST00000431232.2	37	c.1255G>A	CCDS10407.1	.	.	.	.	.	.	.	.	.	.	C	19.19	3.779684	0.70107	.	.	ENSG00000129925	ENST00000431232;ENST00000250930	T;T	0.34472	1.78;1.36	4.6	4.6	0.57074	.	0.284415	0.28996	N	0.013465	T	0.52837	0.1759	M	0.69823	2.125	0.52501	D	0.999951	D	0.61080	0.989	P	0.54174	0.744	T	0.59532	-0.7437	10	0.62326	D	0.03	-0.5634	17.6111	0.88053	0.0:1.0:0.0:0.0	.	419	Q9HCN3	TMM8A_HUMAN	T	419;226	ENSP00000401338:A419T;ENSP00000250930:A226T	ENSP00000250930:A226T	A	-	1	0	TMEM8A	365406	0.993000	0.37304	0.652000	0.29579	0.051000	0.14879	3.941000	0.56607	2.390000	0.81377	0.655000	0.94253	GCC		0.647	TMEM8A-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000109257.2	NM_021259		18	52	0	0	0	1	0	18	52				
RASGRP3	25780	broad.mit.edu	37	2	33774785	33774785	+	Silent	SNP	C	C	G			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr2:33774785C>G	ENST00000403687.3	+	14	2249	c.1509C>G	c.(1507-1509)ctC>ctG	p.L503L	RASGRP3_ENST00000407811.1_Silent_p.L502L|RASGRP3_ENST00000402538.3_Silent_p.L503L	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	503					MAPK cascade (GO:0000165)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)	guanyl-nucleotide exchange factor complex (GO:0032045)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|guanyl-nucleotide exchange factor activity (GO:0005085)|Rap GTPase activator activity (GO:0046582)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					TGACCTATCTCAAGCCAACCT	0.393																																						ENST00000403687.3																			0				large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11						c.(1507-1509)ctC>ctG		RAS guanyl releasing protein 3 (calcium and DAG-regulated)							173.0	154.0	160.0					2																	33774785		1881	4110	5991	SO:0001819	synonymous_variant	25780				MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity	g.chr2:33774785C>G	AB020653	CCDS46256.1, CCDS54346.1	2p25.1-p24.1	2013-01-10			ENSG00000152689	ENSG00000152689		"""EF-hand domain containing"""	14545	protein-coding gene	gene with protein product		609531				10048485, 10934204	Standard	NM_170672		Approved	KIAA0846, GRP3	uc002roy.3	Q8IV61	OTTHUMG00000152124	ENST00000403687.3:c.1509C>G	2.37:g.33774785C>G						RASGRP3_ENST00000407811.1_Silent_p.L502L|RASGRP3_ENST00000402538.3_Silent_p.L503L	p.L503L	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN			14	2249	+	all_hematologic(175;0.115)		503					D6W583|O94931|Q53SD7	Silent	SNP	ENST00000403687.3	37	c.1509C>G	CCDS46256.1																																																																																				0.393	RASGRP3-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325462.2	NM_015376		7	25	0	0	0	1	0	7	25				
OBSL1	23363	broad.mit.edu	37	2	220435066	220435066	+	Missense_Mutation	SNP	C	C	G			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr2:220435066C>G	ENST00000404537.1	-	1	945	c.889G>C	c.(889-891)Gac>Cac	p.D297H	OBSL1_ENST00000373873.4_Missense_Mutation_p.D297H|OBSL1_ENST00000265318.4_Missense_Mutation_p.D297H|INHA_ENST00000489456.1_Intron|OBSL1_ENST00000491370.1_5'Flank|OBSL1_ENST00000373876.1_Missense_Mutation_p.D297H|OBSL1_ENST00000603926.1_Missense_Mutation_p.D297H|OBSL1_ENST00000289656.3_Intron|INHA_ENST00000243786.2_5'Flank	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	297	Ig-like 3.				cardiac myofibril assembly (GO:0055003)|cytoskeleton organization (GO:0007010)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of dendrite morphogenesis (GO:0050775)|protein localization to Golgi apparatus (GO:0034067)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|M band (GO:0031430)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		CCGTCGCGGTCGCGGTACATG	0.692																																						ENST00000404537.1																			0											c.(889-891)Gac>Cac		obscurin-like 1							23.0	29.0	27.0					2																	220435066		2025	4161	6186	SO:0001583	missense	23363				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity	g.chr2:220435066C>G	BC007201	CCDS46520.1, CCDS54433.1, CCDS63134.1	2q35	2013-01-29			ENSG00000124006	ENSG00000124006		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29092	protein-coding gene	gene with protein product		610991				9734811	Standard	NM_015311		Approved	KIAA0657	uc010fwk.3	O75147	OTTHUMG00000059157	ENST00000404537.1:c.889G>C	2.37:g.220435066C>G	ENSP00000385636:p.Asp297His					OBSL1_ENST00000373873.4_Missense_Mutation_p.D297H|INHA_ENST00000489456.1_Intron|OBSL1_ENST00000373876.1_Missense_Mutation_p.D297H|OBSL1_ENST00000265318.4_Missense_Mutation_p.D297H|OBSL1_ENST00000289656.3_Intron|OBSL1_ENST00000603926.1_Missense_Mutation_p.D297H	p.D297H	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)	1	945	-		Renal(207;0.0376)	297			Ig-like 3.		A4KVA4|A4KVA5|Q96IW3|S4R3M6	Missense_Mutation	SNP	ENST00000404537.1	37	c.889G>C	CCDS46520.1	.	.	.	.	.	.	.	.	.	.	C	32	5.108267	0.94292	.	.	ENSG00000124006	ENST00000265318;ENST00000404537;ENST00000373876;ENST00000373873	T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33	4.5	4.5	0.54988	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.80717	0.4676	M	0.66560	2.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.83045	-0.0155	9	0.72032	D	0.01	.	17.7228	0.88357	0.0:1.0:0.0:0.0	.	297;297	O75147;O75147-2	OBSL1_HUMAN;.	H	297	ENSP00000265318:D297H;ENSP00000385636:D297H;ENSP00000362983:D297H;ENSP00000362980:D297H	ENSP00000265318:D297H	D	-	1	0	OBSL1	220143310	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.507000	0.81676	2.491000	0.84063	0.407000	0.27541	GAC		0.692	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322012.1			6	21	0	0	0	1	0	6	21				
C3orf30	152405	broad.mit.edu	37	3	118865871	118865871	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr3:118865871G>A	ENST00000295622.1	+	1	875	c.835G>A	c.(835-837)Gct>Act	p.A279T	IGSF11_ENST00000441144.2_5'Flank|IGSF11_ENST00000354673.2_5'Flank|IGSF11_ENST00000425327.2_5'Flank|RP11-484M3.5_ENST00000490594.1_5'Flank	NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	279										NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		CTACAGATTGGCTGGCCTGGC	0.493																																						ENST00000295622.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34						c.(835-837)Gct>Act		chromosome 3 open reading frame 30							74.0	74.0	74.0					3																	118865871		2203	4300	6503	SO:0001583	missense	152405							g.chr3:118865871G>A	AK057421	CCDS2984.1	3q13.32	2011-08-09			ENSG00000163424	ENSG00000163424			26553	protein-coding gene	gene with protein product							Standard	NM_152539		Approved	FLJ32859	uc003ecb.1	Q96M34	OTTHUMG00000159349	ENST00000295622.1:c.835G>A	3.37:g.118865871G>A	ENSP00000295622:p.Ala279Thr						p.A279T	NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN		GBM - Glioblastoma multiforme(114;0.222)	1	875	+			279					A1L4B7	Missense_Mutation	SNP	ENST00000295622.1	37	c.835G>A	CCDS2984.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.35|11.35	1.613234|1.613234	0.28712|0.28712	.|.	.|.	ENSG00000163424|ENSG00000163424	ENST00000295622;ENST00000470341|ENST00000460150;ENST00000473121;ENST00000492792	T|.	0.12465|.	2.68|.	2.28|2.28	1.12|1.12	0.20585|0.20585	.|.	.|.	.|.	.|.	.|.	T|T	0.33030|0.33030	0.0849|0.0849	L|L	0.36672|0.36672	1.1|1.1	0.09310|0.09310	N|N	1|1	B;P|.	0.50528|.	0.009;0.936|.	B;P|.	0.47573|.	0.005;0.55|.	T|T	0.24835|0.24835	-1.0149|-1.0149	9|5	0.23302|.	T|.	0.38|.	-2.2039|-2.2039	6.8154|6.8154	0.23826|0.23826	0.0:0.0:0.5352:0.4648|0.0:0.0:0.5352:0.4648	.|.	279;279|.	E9PFE5;Q96M34|.	.;CC030_HUMAN|.	T|D	279|242;71;13	ENSP00000295622:A279T|.	ENSP00000295622:A279T|.	A|G	+|+	1|2	0|0	C3orf30|C3orf30	120348561|120348561	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.001000|0.001000	0.01503|0.01503	-0.084000|-0.084000	0.11268|0.11268	0.320000|0.320000	0.23234|0.23234	-0.518000|-0.518000	0.04402|0.04402	GCT|GGC		0.493	C3orf30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354838.1	NM_152539		30	59	0	0	0	1	0	30	59				
TRIM67	440730	broad.mit.edu	37	1	231344819	231344819	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr1:231344819G>A	ENST00000366653.5	+	8	1946	c.1946G>A	c.(1945-1947)gGc>gAc	p.G649D	TRIM67_ENST00000366652.2_Missense_Mutation_p.G649D|TRIM67_ENST00000444294.3_Missense_Mutation_p.G647D|TRIM67_ENST00000449018.3_Missense_Mutation_p.G587D			Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	649	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				TTCTCCAAGGGCGTGCACTAC	0.622																																						ENST00000444294.3																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						c.(1939-1941)gGc>gAc		tripartite motif containing 67							92.0	101.0	98.0					1																	231344819		2182	4284	6466	SO:0001583	missense	440730					cytoplasm|cytoskeleton	zinc ion binding	g.chr1:231344819G>A	AK126782	CCDS44333.1, CCDS73048.1	1q42.2	2014-02-17	2011-01-25		ENSG00000119283	ENSG00000119283		"""Tripartite motif containing / Tripartite motif containing"", ""Fibronectin type III domain containing"", ""RING-type (C3HC4) zinc fingers"""	31859	protein-coding gene	gene with protein product		610584	"""tripartite motif-containing 67"""				Standard	NM_001004342		Approved	TNL	uc009xfn.1	Q6ZTA4	OTTHUMG00000037958	ENST00000366653.5:c.1946G>A	1.37:g.231344819G>A	ENSP00000355613:p.Gly649Asp					TRIM67_ENST00000449018.3_Missense_Mutation_p.G587D|TRIM67_ENST00000366653.5_Missense_Mutation_p.G649D|TRIM67_ENST00000366652.2_Missense_Mutation_p.G649D	p.G647D	NM_001004342.3	NP_001004342.3	Q6ZTA4	TRI67_HUMAN			8	2798	+	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)	649			B30.2/SPRY.		Q5TER7|Q5TER8|Q7Z4K7	Missense_Mutation	SNP	ENST00000366653.5	37	c.1940G>A	CCDS44333.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.373225	0.82573	.	.	ENSG00000119283	ENST00000444294;ENST00000366652;ENST00000449018;ENST00000366653	D;D;D;D	0.88431	-2.38;-2.38;-2.38;-2.38	5.73	5.73	0.89815	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.85682	D	0.000000	D	0.96300	0.8793	M	0.94101	3.495	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96569	0.9421	10	0.87932	D	0	.	20.2699	0.98469	0.0:0.0:1.0:0.0	.	649	Q6ZTA4	TRI67_HUMAN	D	647;649;587;649	ENSP00000412124:G647D;ENSP00000355612:G649D;ENSP00000400163:G587D;ENSP00000355613:G649D	ENSP00000355612:G649D	G	+	2	0	TRIM67	229411442	1.000000	0.71417	0.971000	0.41717	0.202000	0.24057	9.760000	0.98935	2.854000	0.98071	0.655000	0.94253	GGC		0.622	TRIM67-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092649.3	NM_001004342		29	63	0	0	0	1	0	29	63				
PRDM9	56979	broad.mit.edu	37	5	23526949	23526949	+	Silent	SNP	G	G	A			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr5:23526949G>A	ENST00000296682.3	+	11	1934	c.1752G>A	c.(1750-1752)gaG>gaA	p.E584E		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	584					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						TCTGCAGGGAGTGTGGGCGGG	0.592										HNSCC(3;0.000094)																												ENST00000296682.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						c.(1750-1752)gaG>gaA		PR domain containing 9							49.0	55.0	53.0					5																	23526949		2182	4288	6470	SO:0001819	synonymous_variant	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23526949G>A	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.1752G>A	5.37:g.23526949G>A		HNSCC(3;0.000094)					p.E584E	NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN			11	1934	+			584					B4DX22|Q27Q50	Silent	SNP	ENST00000296682.3	37	c.1752G>A	CCDS43307.1																																																																																				0.592	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		20	73	0	0	0	1	0	20	73				
RPL31P11	641311	broad.mit.edu	37	1	161654748	161654748	+	RNA	SNP	C	C	T			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr1:161654748C>T	ENST00000426558.1	-	0	294					NR_002595.1				ribosomal protein L31 pseudogene 11																		CAGCCGCACACGGATTCGGTA	0.448																																						ENST00000426558.1																			0																																																			641311							g.chr1:161654748C>T			1q23.3	2010-06-16			ENSG00000213075	ENSG00000213075			35849	pseudogene	pseudogene						19123937	Standard	NR_002595		Approved		uc001gbc.3		OTTHUMG00000034536		1.37:g.161654748C>T								NR_002595.1						0	294	-									RNA	SNP	ENST00000426558.1	37																																																																																						0.448	RPL31P11-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347090.2	NR_002595		14	23	0	0	0	1	0	14	23				
TBC1D9	23158	broad.mit.edu	37	4	141543760	141543760	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr4:141543760C>T	ENST00000442267.2	-	21	3464	c.3390G>A	c.(3388-3390)atG>atA	p.M1130I		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	1130							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				TGATGTCCTCCATTTGTCCTC	0.632																																						ENST00000442267.2																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31						c.(3388-3390)atG>atA		TBC1 domain family, member 9 (with GRAM domain)							62.0	68.0	66.0					4																	141543760		1990	4155	6145	SO:0001583	missense	23158					intracellular	calcium ion binding|Rab GTPase activator activity	g.chr4:141543760C>T	AB020689	CCDS47136.1	4q31.1	2013-01-10	2006-07-12		ENSG00000109436	ENSG00000109436		"""EF-hand domain containing"""	21710	protein-coding gene	gene with protein product			"""TBC1 domain family, member 9"""			12970790	Standard	NM_015130		Approved	KIAA0882, MDR1	uc010ioj.3	Q6ZT07	OTTHUMG00000161405	ENST00000442267.2:c.3390G>A	4.37:g.141543760C>T	ENSP00000411197:p.Met1130Ile						p.M1130I	NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN			21	3464	-	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)	1130					A6H8U8|D3DNZ1|O94958	Missense_Mutation	SNP	ENST00000442267.2	37	c.3390G>A	CCDS47136.1	.	.	.	.	.	.	.	.	.	.	C	13.27	2.188058	0.38609	.	.	ENSG00000109436	ENST00000442267	T	0.51325	0.71	5.29	5.29	0.74685	.	.	.	.	.	T	0.44159	0.1280	L	0.44542	1.39	0.48236	D	0.999618	B	0.23058	0.079	B	0.25987	0.065	T	0.26815	-1.0092	9	0.22109	T	0.4	.	18.9312	0.92566	0.0:1.0:0.0:0.0	.	1130	Q6ZT07	TBCD9_HUMAN	I	1130	ENSP00000411197:M1130I	ENSP00000411197:M1130I	M	-	3	0	TBC1D9	141763210	1.000000	0.71417	1.000000	0.80357	0.678000	0.39670	4.021000	0.57196	2.461000	0.83175	0.655000	0.94253	ATG		0.632	TBC1D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364806.1	NM_015130		22	66	0	0	0	1	0	22	66				
TLCD1	116238	broad.mit.edu	37	17	27051812	27051812	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr17:27051812G>A	ENST00000292090.3	-	4	570	c.460C>T	c.(460-462)Cgc>Tgc	p.R154C	AC010761.14_ENST00000587898.1_RNA|TLCD1_ENST00000394933.3_Missense_Mutation_p.R107C|SNORD42A_ENST00000459584.1_RNA|AC010761.8_ENST00000582718.1_RNA|SNORD4A_ENST00000459174.1_RNA|SNORD4B_ENST00000459083.1_RNA	NM_138463.3	NP_612472.1	Q96CP7	TLCD1_HUMAN	TLC domain containing 1	154	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|endometrium(1)|kidney(2)|lung(2)	7	Lung NSC(42;0.00431)					ATCATCATGCGAATGGTGAGG	0.507																																						ENST00000292090.3																			0				breast(2)|endometrium(1)|kidney(2)|lung(2)	7						c.(460-462)Cgc>Tgc		TLC domain containing 1							122.0	115.0	117.0					17																	27051812		2203	4300	6503	SO:0001583	missense	116238					integral to membrane		g.chr17:27051812G>A	BC014072	CCDS11242.1, CCDS54102.1	17q11.2	2007-03-23			ENSG00000160606	ENSG00000160606			25177	protein-coding gene	gene with protein product						12151215	Standard	NM_138463		Approved		uc002hco.3	Q96CP7	OTTHUMG00000132683	ENST00000292090.3:c.460C>T	17.37:g.27051812G>A	ENSP00000292090:p.Arg154Cys					TLCD1_ENST00000394933.3_Missense_Mutation_p.R107C	p.R154C	NM_138463.3	NP_612472.1	Q96CP7	TLCD1_HUMAN			4	570	-	Lung NSC(42;0.00431)		154			TLC.		A8MYP9	Missense_Mutation	SNP	ENST00000292090.3	37	c.460C>T	CCDS11242.1	.	.	.	.	.	.	.	.	.	.	G	17.42	3.385399	0.61956	.	.	ENSG00000160606	ENST00000292090;ENST00000394933	D;D	0.86694	-2.16;-2.16	5.91	2.36	0.29203	TRAM/LAG1/CLN8 homology domain (3);	0.000000	0.85682	D	0.000000	D	0.92603	0.7650	M	0.78456	2.415	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93112	0.6517	10	0.87932	D	0	2.3915	14.1149	0.65146	0.0:0.0:0.59:0.41	.	107;154	A8MYP9;Q96CP7	.;TLCD1_HUMAN	C	154;107	ENSP00000292090:R154C;ENSP00000378391:R107C	ENSP00000292090:R154C	R	-	1	0	TLCD1	24075939	0.962000	0.33011	0.471000	0.27229	0.812000	0.45895	1.534000	0.36051	0.751000	0.32900	0.462000	0.41574	CGC		0.507	TLCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255973.1	NM_138463		73	103	0	0	0	1	0	73	103				
SLFN11	91607	broad.mit.edu	37	17	33690703	33690703	+	Missense_Mutation	SNP	C	C	G			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr17:33690703C>G	ENST00000394566.1	-	4	396	c.124G>C	c.(124-126)Gag>Cag	p.E42Q	SLFN11_ENST00000308377.4_Missense_Mutation_p.E42Q	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	42					defense response to virus (GO:0051607)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|tRNA binding (GO:0000049)			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CTCTCCTTCTCTTGGTCTCTC	0.468																																						ENST00000394566.1																			0				autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50						c.(124-126)Gag>Cag		schlafen family member 11							117.0	122.0	120.0					17																	33690703		2203	4300	6503	SO:0001583	missense	91607					nucleus	ATP binding	g.chr17:33690703C>G	AK074184	CCDS11294.1	17q12	2006-04-05			ENSG00000172716	ENSG00000172716			26633	protein-coding gene	gene with protein product		614953				12477932	Standard	NM_001104587		Approved	FLJ34922	uc010ctr.3	Q7Z7L1	OTTHUMG00000132948	ENST00000394566.1:c.124G>C	17.37:g.33690703C>G	ENSP00000378067:p.Glu42Gln					SLFN11_ENST00000308377.4_Missense_Mutation_p.E42Q	p.E42Q	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	4	396	-		Ovarian(249;0.17)	42					E1P643|Q8N3S8|Q8N762|Q8TEE0	Missense_Mutation	SNP	ENST00000394566.1	37	c.124G>C	CCDS11294.1	.	.	.	.	.	.	.	.	.	.	C	5.324	0.245066	0.10077	.	.	ENSG00000172716	ENST00000308377;ENST00000394566;ENST00000430814;ENST00000441608;ENST00000427966	T;T;T;T;T	0.27557	4.31;4.31;1.66;2.01;1.66	4.0	3.03	0.35002	.	0.000000	0.36034	N	0.002823	T	0.20210	0.0486	L	0.41124	1.26	0.09310	N	1	B	0.29612	0.251	B	0.25987	0.065	T	0.14337	-1.0476	10	0.20519	T	0.43	.	7.2368	0.26074	0.0:0.8784:0.0:0.1216	.	42	Q7Z7L1	SLN11_HUMAN	Q	42	ENSP00000312402:E42Q;ENSP00000378067:E42Q;ENSP00000397454:E42Q;ENSP00000393615:E42Q;ENSP00000395140:E42Q	ENSP00000312402:E42Q	E	-	1	0	SLFN11	30714816	0.920000	0.31207	0.009000	0.14445	0.030000	0.12068	1.088000	0.30877	0.896000	0.36366	0.655000	0.94253	GAG		0.468	SLFN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256480.1	NM_152270		95	103	0	0	0	1	0	95	103				
OR2G6	391211	broad.mit.edu	37	1	248685628	248685628	+	Silent	SNP	G	G	A			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr1:248685628G>A	ENST00000343414.4	+	1	713	c.681G>A	c.(679-681)agG>agA	p.R227R		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	227						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	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)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTGTGTTAAGGATAAAATCAG	0.463																																						ENST00000343414.4																			0				NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(679-681)agG>agA		olfactory receptor, family 2, subfamily G, member 6							108.0	112.0	111.0					1																	248685628		2203	4300	6503	SO:0001819	synonymous_variant	391211				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248685628G>A		CCDS31119.1	1q44	2012-08-09			ENSG00000188558	ENSG00000188558		"""GPCR / Class A : Olfactory receptors"""	27019	protein-coding gene	gene with protein product							Standard	NM_001013355		Approved		uc001ien.1	Q5TZ20	OTTHUMG00000040462	ENST00000343414.4:c.681G>A	1.37:g.248685628G>A							p.R227R	NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	713	+	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)	all_cancers(173;0.0156)	227					B2RP33	Silent	SNP	ENST00000343414.4	37	c.681G>A	CCDS31119.1																																																																																				0.463	OR2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097358.1	XM_372842		24	57	0	0	0	1	0	24	57				
SALL3	27164	broad.mit.edu	37	18	76753497	76753497	+	Silent	SNP	G	G	T			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr18:76753497G>T	ENST00000537592.2	+	2	1506	c.1506G>T	c.(1504-1506)tcG>tcT	p.S502S	SALL3_ENST00000536229.3_Silent_p.S369S|SALL3_ENST00000575389.2_Silent_p.S502S	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	502					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|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(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		ACGGCATGTCGCTGCCCCCCG	0.672																																						ENST00000536229.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74						c.(1105-1107)tcG>tcT		spalt-like transcription factor 3							35.0	31.0	33.0					18																	76753497		2202	4299	6501	SO:0001819	synonymous_variant	27164				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:76753497G>T	AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"""Zinc fingers, C2H2-type"""	10527	protein-coding gene	gene with protein product		605079	"""sal (Drosophila)-like 3"", ""sal-like 3 (Drosophila)"""			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.1506G>T	18.37:g.76753497G>T						SALL3_ENST00000575389.2_Silent_p.S502S|SALL3_ENST00000537592.2_Silent_p.S502S	p.S369S			Q9BXA9	SALL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)	1	1816	+		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)	502					Q9UGH1	Silent	SNP	ENST00000537592.2	37	c.1107G>T	CCDS12013.1																																																																																				0.672	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1	NM_171999		5	11	1	0	0.014758	1	0.015192	5	11				
HYKK	123688	broad.mit.edu	37	15	78807440	78807440	+	Silent	SNP	G	G	A			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr15:78807440G>A	ENST00000569878.1	+	2	468	c.468G>A	c.(466-468)aaG>aaA	p.K156K	HYKK_ENST00000360519.3_Silent_p.K156K|HYKK_ENST00000408962.2_Silent_p.K156K|HYKK_ENST00000566332.1_Silent_p.K156K|HYKK_ENST00000388988.4_Silent_p.K156K|HYKK_ENST00000563233.1_Silent_p.K156K			A2RU49	HYKK_HUMAN	hydroxylysine kinase	156						cytoplasm (GO:0005737)	hydroxylysine kinase activity (GO:0047992)										AATTGGATAAGACACTGCAGG	0.393																																						ENST00000566332.1																			0											c.(466-468)aaG>aaA		hydroxylysine kinase							57.0	56.0	56.0					15																	78807440		1829	4079	5908	SO:0001819	synonymous_variant	123688							g.chr15:78807440G>A	BC132753, BC144383, BM045979	CCDS42063.1, CCDS45318.1	15q25.1	2013-06-11	2013-06-11	2013-06-11	ENSG00000188266	ENSG00000188266	2.7.1.81		34403	protein-coding gene	gene with protein product	"""5-hydroxylysine kinase"""	614681	"""aminoglycoside phosphotransferase domain containing 1"""	AGPHD1		18780872, 22241472	Standard	NM_001013619		Approved	LOC123688	uc010unc.2	A2RU49		ENST00000569878.1:c.468G>A	15.37:g.78807440G>A						HYKK_ENST00000563233.1_Silent_p.K156K|HYKK_ENST00000569878.1_Silent_p.K156K|HYKK_ENST00000408962.2_Silent_p.K156K|HYKK_ENST00000360519.3_Silent_p.K156K|HYKK_ENST00000388988.4_Silent_p.K156K	p.K156K							3	528	+								B7ZMA5|F8W6X5|Q6ZTN0	Silent	SNP	ENST00000569878.1	37	c.468G>A	CCDS42063.1																																																																																				0.393	HYKK-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435834.1	NM_001013619		10	34	0	0	0	1	0	10	34				
METTL15	196074	broad.mit.edu	37	11	28311783	28311783	+	Silent	SNP	C	C	T			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr11:28311783C>T	ENST00000407364.3	+	5	790	c.438C>T	c.(436-438)ttC>ttT	p.F146F	METTL15_ENST00000406787.3_Silent_p.F146F|METTL15_ENST00000342303.5_Silent_p.F146F|METTL15_ENST00000303459.6_Silent_p.F146F			A6NJ78	MET15_HUMAN	methyltransferase like 15	146							methyltransferase activity (GO:0008168)			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	14						TGGGCCAGTTCAGCCAGGCAG	0.428																																						ENST00000342303.5																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	14						c.(436-438)ttC>ttT		methyltransferase like 15							45.0	44.0	44.0					11																	28311783		2202	4299	6501	SO:0001819	synonymous_variant	196074						methyltransferase activity	g.chr11:28311783C>T	AL832668	CCDS31450.1, CCDS44559.1, CCDS73269.1	11p14.1	2011-03-02	2011-03-02	2011-03-02	ENSG00000169519	ENSG00000169519			26606	protein-coding gene	gene with protein product			"""methyltransferase 5 domain containing 1"""	METT5D1		12477932	Standard	NM_152636		Approved	FLJ33979	uc001msh.2	A6NJ78	OTTHUMG00000150448	ENST00000407364.3:c.438C>T	11.37:g.28311783C>T						METTL15_ENST00000407364.3_Silent_p.F146F|METTL15_ENST00000303459.6_Silent_p.F146F|METTL15_ENST00000406787.3_Silent_p.F146F	p.F146F	NM_152636.2	NP_689849.2	A6NJ78	MET15_HUMAN			5	893	+			146					A8MRS5|B7WNU2|Q3MHD3|Q8N601|Q8NBA7	Silent	SNP	ENST00000407364.3	37	c.438C>T	CCDS44559.1																																																																																				0.428	METTL15-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318135.2	NM_152636		17	22	0	0	0	1	0	17	22				
HEPACAM	220296	broad.mit.edu	37	11	124794777	124794777	+	Missense_Mutation	SNP	G	G	A	rs387907055		TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr11:124794777G>A	ENST00000298251.4	-	2	679	c.274C>T	c.(274-276)Cgg>Tgg	p.R92W		NM_152722.4	NP_689935.2			hepatic and glial cell adhesion molecule											breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.54e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		TAGTCAGGCCGCAGGGTGCCG	0.592																																						ENST00000298251.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22						c.(274-276)Cgg>Tgg		hepatic and glial cell adhesion molecule							137.0	118.0	125.0					11																	124794777		2201	4299	6500	SO:0001583	missense	220296				cell adhesion|cell cycle arrest|regulation of growth	cytoplasm|integral to membrane		g.chr11:124794777G>A	AK098396	CCDS8456.1	11q24.2	2013-01-29	2011-02-11		ENSG00000165478	ENSG00000165478		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26361	protein-coding gene	gene with protein product	"""glial cell adhesion molecule"""	611642	"""hepatocyte cell adhesion molecule"""			15885354, 15917256	Standard	NM_152722		Approved	FLJ25530, hepaCAM, GLIALCAM	uc001qbk.3	Q14CZ8	OTTHUMG00000165938	ENST00000298251.4:c.274C>T	11.37:g.124794777G>A	ENSP00000298251:p.Arg92Trp						p.R92W	NM_152722.4	NP_689935.2	Q14CZ8	HECAM_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.54e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)	2	679	-	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	92			Ig-like V-type.			Missense_Mutation	SNP	ENST00000298251.4	37	c.274C>T	CCDS8456.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.035792	0.75617	.	.	ENSG00000165478	ENST00000298251;ENST00000374961	T	0.65549	-0.16	5.84	2.53	0.30540	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.76709	0.4025	M	0.68317	2.08	0.52501	D	0.999954	D;D	0.89917	1.0;1.0	D;D	0.97110	0.995;1.0	T	0.80353	-0.1418	10	0.72032	D	0.01	-24.1252	16.1716	0.81820	0.0:0.0:0.6421:0.3579	.	92;92	Q14CZ8-2;Q14CZ8	.;HECAM_HUMAN	W	92	ENSP00000298251:R92W	ENSP00000298251:R92W	R	-	1	2	HEPACAM	124299987	1.000000	0.71417	0.994000	0.49952	0.939000	0.58152	1.467000	0.35321	0.768000	0.33290	-0.311000	0.09066	CGG		0.592	HEPACAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387125.1	NM_152722		53	49	0	0	0	1	0	53	49				
TP53	7157	broad.mit.edu	37	17	7577082	7577082	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr17:7577082C>A	ENST00000269305.4	-	8	1045	c.856G>T	c.(856-858)Gaa>Taa	p.E286*	TP53_ENST00000420246.2_Nonsense_Mutation_p.E286*|TP53_ENST00000445888.2_Nonsense_Mutation_p.E286*|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Nonsense_Mutation_p.E286*|TP53_ENST00000359597.4_Nonsense_Mutation_p.E286*	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	286	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		E -> A (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:11023613, ECO:0000269|PubMed:8316628}.|E -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> Q (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:8829627}.|E -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.E286K(58)|p.E286*(22)|p.0?(8)|p.E286Q(5)|p.?(2)|p.E286fs*59(2)|p.E286fs*17(2)|p.R283fs*16(2)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.T284_G293del10(1)|p.E285_L289delEEENL(1)|p.R283fs*56(1)|p.E285fs*13(1)|p.G279fs*59(1)|p.R283fs*59(1)|p.V272_K292del21(1)|p.E285_N288delEEEN(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	AGATTCTCTTCCTCTGTGCGC	0.557		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		112	Substitution - Missense(63)|Substitution - Nonsense(22)|Deletion - Frameshift(11)|Whole gene deletion(8)|Deletion - In frame(6)|Unknown(2)	p.E286K(58)|p.E286*(22)|p.0?(8)|p.E286Q(5)|p.?(2)|p.E286fs*59(2)|p.E286fs*17(2)|p.R283fs*16(2)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.T284_G293del10(1)|p.E285_L289delEEENL(1)|p.R283fs*56(1)|p.E285fs*13(1)|p.G279fs*59(1)|p.R283fs*59(1)|p.V272_K292del21(1)|p.E285_N288delEEEN(1)	lung(18)|upper_aerodigestive_tract(13)|breast(10)|large_intestine(9)|urinary_tract(9)|skin(9)|oesophagus(9)|haematopoietic_and_lymphoid_tissue(8)|liver(7)|central_nervous_system(6)|bone(4)|ovary(3)|stomach(2)|vulva(1)|soft_tissue(1)|eye(1)|biliary_tract(1)|endometrium(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM076567	TP53	M		c.(856-858)Gaa>Taa	Other conserved DNA damage response genes	tumor protein p53							95.0	81.0	86.0					17																	7577082		2203	4300	6503	SO:0001587	stop_gained	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577082C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.856G>T	17.37:g.7577082C>A	ENSP00000269305:p.Glu286*	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000269305.4_Nonsense_Mutation_p.E286*|TP53_ENST00000445888.2_Nonsense_Mutation_p.E286*|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Nonsense_Mutation_p.E286*|TP53_ENST00000455263.2_Nonsense_Mutation_p.E286*	p.E286*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	988	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	286		E -> A (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> Q (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.856G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	31	5.072281	0.93950	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	.	.	.	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-23.2961	15.807	0.78520	0.0:1.0:0.0:0.0	.	.	.	.	X	286;286;286;286;286;275;154	.	ENSP00000269305:E286X	E	-	1	0	TP53	7517807	1.000000	0.71417	0.972000	0.41901	0.455000	0.32408	7.587000	0.82613	2.579000	0.87056	0.462000	0.41574	GAA		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		17	17	1	0	1.99824e-07	1	2.18557e-07	17	17				
OTOGL	283310	broad.mit.edu	37	12	80746082	80746082	+	Missense_Mutation	SNP	C	C	T	rs372958953		TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr12:80746082C>T	ENST00000547103.1	+	44	5216	c.5210C>T	c.(5209-5211)cCg>cTg	p.P1737L	OTOGL_ENST00000458043.2_Missense_Mutation_p.P1749L			Q3ZCN5	OTOGL_HUMAN	otogelin-like	1737					L-arabinose metabolic process (GO:0046373)	extracellular region (GO:0005576)	alpha-L-arabinofuranosidase activity (GO:0046556)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TAGGTTTCACCGGAAGACTTT	0.343													C|||	1	0.000199681	0.0	0.0	5008	,	,		17073	0.001		0.0	False		,,,				2504	0.0					ENST00000458043.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						c.(5245-5247)cCg>cTg		otogelin-like		C	LEU/PRO	1,3643		0,1,1821	90.0	81.0	84.0		5246	5.8	1.0	12		84	0,8168		0,0,4084	no	missense	OTOGL	NM_173591.3	98	0,1,5905	TT,TC,CC		0.0,0.0274,0.0085		1749/2345	80746082	1,11811	1822	4084	5906	SO:0001583	missense	283310							g.chr12:80746082C>T	AK096852		12q21.31	2011-02-11	2011-02-11	2011-02-11	ENSG00000165899	ENSG00000165899			26901	protein-coding gene	gene with protein product		614925	"""chromosome 12 open reading frame 64"""	C12orf64			Standard	NM_173591		Approved	FLJ90579	uc001szd.3	Q3ZCN5	OTTHUMG00000150509	ENST00000547103.1:c.5210C>T	12.37:g.80746082C>T	ENSP00000447211:p.Pro1737Leu					OTOGL_ENST00000547103.1_Missense_Mutation_p.P1737L	p.P1749L	NM_173591.3	NP_775862.3					44	5252	+								F8W0C3|Q495U8|Q8N8G5|Q8NC28	Missense_Mutation	SNP	ENST00000547103.1	37	c.5246C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.69|19.69	3.874012|3.874012	0.72180|0.72180	2.74E-4|2.74E-4	0.0|0.0	ENSG00000165899|ENSG00000165899	ENST00000547103;ENST00000458043|ENST00000298820	D;D|.	0.89681|.	-2.55;-2.55|.	5.85|5.85	5.85|5.85	0.93711|0.93711	.|.	.|.	.|.	.|.	.|.	D|D	0.88224|0.88224	0.6379|0.6379	H|H	0.95574|0.95574	3.69|3.69	0.58432|0.58432	D|D	0.999997|0.999997	.|.	.|.	.|.	.|.	.|.	.|.	D|D	0.90823|0.90823	0.4710|0.4710	7|5	0.87932|.	D|.	0|.	.|.	20.1542|20.1542	0.98100|0.98100	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	L|W	1737;1749|192	ENSP00000447211:P1737L;ENSP00000400895:P1749L|.	ENSP00000400895:P1749L|.	P|R	+|+	2|1	0|2	OTOGL|OTOGL	79270213|79270213	1.000000|1.000000	0.71417|0.71417	0.990000|0.990000	0.47175|0.47175	0.404000|0.404000	0.30871|0.30871	7.226000|7.226000	0.78060|0.78060	2.767000|2.767000	0.95098|0.95098	0.563000|0.563000	0.77884|0.77884	CCG|CGG		0.343	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000407438.1	NM_173591		6	20	0	0	0	1	0	6	20				
LOC645752	645752	broad.mit.edu	37	15	78214075	78214075	+	lincRNA	SNP	T	T	C	rs4886971	byFrequency	TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr15:78214075T>C	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							CTAACTGCTCTGTTTGTGCTT	0.493													N|||	724	0.144569	0.1051	0.1744	5008	,	,		21642	0.1091		0.2406	False		,,,				2504	0.1145					ENST00000565869.1																			0																																																			645752							g.chr15:78214075T>C																													15.37:g.78214075T>C						RP11-114H24.2_ENST00000567226.1_RNA								0	111	+									RNA	SNP	ENST00000565869.1	37																																																																																						0.493	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			6	84	0	0	0	1	0	6	84				
ZNF436	80818	broad.mit.edu	37	1	23689182	23689182	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr1:23689182G>C	ENST00000314011.4	-	4	829	c.693C>G	c.(691-693)ttC>ttG	p.F231L	ZNF436_ENST00000374608.3_Missense_Mutation_p.F231L	NM_001077195.1	NP_001070663.1	Q9C0F3	ZN436_HUMAN	zinc finger protein 436	231					regulation of transcription, DNA-templated (GO:0006355)|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)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;5.97e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000977)|KIRC - Kidney renal clear cell carcinoma(1967;0.00336)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		AGAGACGGCAGAAACTTTTTC	0.478																																						ENST00000314011.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						c.(691-693)ttC>ttG		zinc finger protein 436							93.0	100.0	98.0					1																	23689182		2203	4300	6503	SO:0001583	missense	80818				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:23689182G>C	AB051497	CCDS233.1	1p36	2013-01-08			ENSG00000125945	ENSG00000125945		"""Zinc fingers, C2H2-type"", ""-"""	20814	protein-coding gene	gene with protein product		611703				11214970	Standard	NM_001077195		Approved	KIAA1710, Zfp46	uc001bgt.3	Q9C0F3	OTTHUMG00000003232	ENST00000314011.4:c.693C>G	1.37:g.23689182G>C	ENSP00000313582:p.Phe231Leu					ZNF436_ENST00000374608.3_Missense_Mutation_p.F231L|ZNF436_ENST00000374609.1_Missense_Mutation_p.F231L	p.F231L	NM_001077195.1	NP_001070663.1	Q9C0F3	ZN436_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;5.97e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000977)|KIRC - Kidney renal clear cell carcinoma(1967;0.00336)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)	4	829	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	231					Q658I9	Missense_Mutation	SNP	ENST00000314011.4	37	c.693C>G	CCDS233.1	.	.	.	.	.	.	.	.	.	.	G	15.47	2.842703	0.51057	.	.	ENSG00000125945	ENST00000314011;ENST00000374609;ENST00000374608	T;T;T	0.46063	0.88;0.88;0.88	5.33	0.189	0.15119	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000008	T	0.61085	0.2319	M	0.83774	2.66	0.36326	D	0.858565	D	0.71674	0.998	D	0.79784	0.993	T	0.67260	-0.5715	10	0.87932	D	0	-23.3733	9.1418	0.36908	0.4784:0.0:0.5216:0.0	.	231	Q9C0F3	ZN436_HUMAN	L	231	ENSP00000313582:F231L;ENSP00000363737:F231L;ENSP00000363736:F231L	ENSP00000313582:F231L	F	-	3	2	ZNF436	23561769	0.959000	0.32827	0.999000	0.59377	0.910000	0.53928	1.013000	0.29937	0.074000	0.16767	-1.069000	0.02264	TTC		0.478	ZNF436-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008908.1	NM_030634		53	68	0	0	0	1	0	53	68				
OR5L1	219437	broad.mit.edu	37	11	55579091	55579091	+	Missense_Mutation	SNP	A	A	T			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr11:55579091A>T	ENST00000333973.2	+	1	238	c.149A>T	c.(148-150)cAg>cTg	p.Q50L		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	50						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				GCACTGATTCAGGTCAGCTCT	0.483																																						ENST00000333973.2																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78						c.(148-150)cAg>cTg		olfactory receptor, family 5, subfamily L, member 1							324.0	284.0	298.0					11																	55579091		2200	4296	6496	SO:0001583	missense	219437				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55579091A>T	AB065780	CCDS31509.1	11q11	2012-08-09			ENSG00000186117	ENSG00000186117		"""GPCR / Class A : Olfactory receptors"""	8350	protein-coding gene	gene with protein product							Standard	NM_001004738		Approved	OST262	uc001nhw.1	Q8NGL2	OTTHUMG00000166810	ENST00000333973.2:c.149A>T	11.37:g.55579091A>T	ENSP00000335529:p.Gln50Leu						p.Q50L	NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN			1	238	+		all_epithelial(135;0.208)	50					B2RNK6|Q6IFD0	Missense_Mutation	SNP	ENST00000333973.2	37	c.149A>T	CCDS31509.1	.	.	.	.	.	.	.	.	.	.	a	12.33	1.905494	0.33628	.	.	ENSG00000186117	ENST00000333973	T	0.01051	5.4	4.32	-1.38	0.09027	GPCR, rhodopsin-like superfamily (1);	0.459701	0.18541	N	0.138183	T	0.00666	0.0022	N	0.15975	0.35	0.09310	N	1	P	0.41313	0.745	B	0.41988	0.372	T	0.41360	-0.9513	10	0.08381	T	0.77	-2.0947	1.8705	0.03207	0.3832:0.139:0.3423:0.1355	.	50	Q8NGL2	OR5L1_HUMAN	L	50	ENSP00000335529:Q50L	ENSP00000335529:Q50L	Q	+	2	0	OR5L1	55335667	0.000000	0.05858	0.000000	0.03702	0.070000	0.16714	-2.952000	0.00677	-0.223000	0.09943	0.358000	0.22013	CAG		0.483	OR5L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391514.1	NM_001004738		67	259	0	0	0	1	0	67	259				
APOB	338	broad.mit.edu	37	2	21246459	21246459	+	Missense_Mutation	SNP	T	T	A			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr2:21246459T>A	ENST00000233242.1	-	17	2669	c.2542A>T	c.(2542-2544)Ata>Tta	p.I848L		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	848					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GATGAAGATATTTGCAACTGT	0.428																																						ENST00000233242.1																			0				NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(2542-2544)Ata>Tta		apolipoprotein B	Atorvastatin(DB01076)						104.0	98.0	100.0					2																	21246459		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21246459T>A	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.2542A>T	2.37:g.21246459T>A	ENSP00000233242:p.Ile848Leu						p.I848L	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			17	2669	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		848					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.2542A>T	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	t	5.952	0.359642	0.11239	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.13778	2.56	5.35	-0.0714	0.13743	Lipid transport protein, beta-sheet shell (1);Vitellinogen, open beta-sheet (1);Vitellinogen, open beta-sheet, subdomain 2 (1);	0.825197	0.10485	N	0.669050	T	0.04227	0.0117	N	0.02011	-0.69	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.37619	-0.9698	10	0.25751	T	0.34	.	4.5835	0.12271	0.1252:0.5504:0.0923:0.2321	.	848	P04114	APOB_HUMAN	L	848	ENSP00000233242:I848L	ENSP00000233242:I848L	I	-	1	0	APOB	21099964	0.002000	0.14202	0.556000	0.28293	0.098000	0.18820	-0.095000	0.11077	0.047000	0.15862	-0.253000	0.11424	ATA		0.428	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			30	63	0	0	0	1	0	30	63				
RNPS1	10921	broad.mit.edu	37	16	2312322	2312322	+	Missense_Mutation	SNP	C	C	G			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr16:2312322C>G	ENST00000565678.1	-	6	1178	c.633G>C	c.(631-633)gaG>gaC	p.E211D	RNPS1_ENST00000301730.8_Missense_Mutation_p.E211D|RNPS1_ENST00000397086.2_Missense_Mutation_p.E211D|RNPS1_ENST00000561718.1_Missense_Mutation_p.E34D|RNPS1_ENST00000566458.1_Missense_Mutation_p.E188D|RNPS1_ENST00000568631.1_Missense_Mutation_p.E211D|RNPS1_ENST00000320225.5_Missense_Mutation_p.E211D|RNPS1_ENST00000569598.2_Missense_Mutation_p.E117D|RNPS1_ENST00000567147.1_Missense_Mutation_p.E188D|RNPS1_ENST00000566397.1_Missense_Mutation_p.E34D|AC009065.1_ENST00000454671.1_Missense_Mutation_p.F172L			Q15287	RNPS1_HUMAN	RNA binding protein S1, serine-rich domain	211	Interaction with SAP18 and ACIN1.|Necessary for interaction with PNN and exon-skipping.|Necessary for interaction with the cleaved p110 isoform of CDC2L1.|RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of apoptotic process (GO:0043065)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|large_intestine(1)|lung(4)|ovary(2)|urinary_tract(1)	9						CATCTGGATTCTCAAACTCTA	0.527																																						ENST00000565678.1																			0				endometrium(1)|large_intestine(1)|lung(4)|ovary(2)|urinary_tract(1)	9						c.(631-633)gaG>gaC		RNA binding protein S1, serine-rich domain							115.0	106.0	109.0					16																	2312322		2198	4300	6498	SO:0001583	missense	10921				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|termination of RNA polymerase II transcription	cytosol|nuclear speck	mRNA 3'-UTR binding|nucleotide binding|protein binding	g.chr16:2312322C>G	AF015608	CCDS10465.1, CCDS66907.1, CCDS73811.1	16p13.3	2013-02-12	2001-11-28		ENSG00000205937	ENSG00000205937		"""RNA binding motif (RRM) containing"""	10080	protein-coding gene	gene with protein product		606447	"""RNA-binding protein S1, serine-rich domain"""			9580558, 8543184	Standard	XM_005255048		Approved		uc002cpu.3	Q15287	OTTHUMG00000128828	ENST00000565678.1:c.633G>C	16.37:g.2312322C>G	ENSP00000457723:p.Glu211Asp					RNPS1_ENST00000561718.1_Missense_Mutation_p.E34D|RNPS1_ENST00000568631.1_Missense_Mutation_p.E211D|RNPS1_ENST00000320225.5_Missense_Mutation_p.E211D|AC009065.1_ENST00000454671.1_Missense_Mutation_p.F172L|RNPS1_ENST00000569598.2_Missense_Mutation_p.E117D|RNPS1_ENST00000566458.1_Missense_Mutation_p.E188D|RNPS1_ENST00000397086.2_Missense_Mutation_p.E211D|RNPS1_ENST00000301730.8_Missense_Mutation_p.E211D|RNPS1_ENST00000566397.1_Missense_Mutation_p.E34D|RNPS1_ENST00000567147.1_Missense_Mutation_p.E188D	p.E211D			Q15287	RNPS1_HUMAN			6	1178	-			211			Necessary for interaction with PNN and exon-skipping.|Necessary for interaction with the cleaved p110 isoform of CDC2L1.|RRM.		A8K1P0|B4DDU8|B4DZU7|B7ZA17|O75308|Q32P25|Q8WY42|Q9NYG3	Missense_Mutation	SNP	ENST00000565678.1	37	c.633G>C	CCDS10465.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.06|16.06	3.015784|3.015784	0.54468|0.54468	.|.	.|.	ENSG00000205937|ENSG00000167970	ENST00000320225;ENST00000397086;ENST00000301730|ENST00000454671	T;T;T|.	0.17370|.	2.28;2.28;2.28|.	5.12|5.12	4.15|4.15	0.48705|0.48705	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.54759|0.54759	0.1878|0.1878	L|L	0.38838|0.38838	1.175|1.175	0.58432|0.58432	D|D	0.999993|0.999993	B;B|.	0.32753|.	0.383;0.127|.	B;B|.	0.40982|.	0.316;0.345|.	T|T	0.57100|0.57100	-0.7869|-0.7869	10|6	0.24483|0.87932	T|D	0.36|0	.|.	8.0949|8.0949	0.30822|0.30822	0.0:0.8235:0.0:0.1765|0.0:0.8235:0.0:0.1765	.|.	188;211|.	Q15287-2;Q15287|.	.;RNPS1_HUMAN|.	D|L	211|172	ENSP00000315859:E211D;ENSP00000380275:E211D;ENSP00000301730:E211D|.	ENSP00000301730:E211D|ENSP00000402058:F172L	E|F	-|+	3|3	2|2	RNPS1|AC009065.1	2252323|2252323	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.860000|0.860000	0.49131|0.49131	2.751000|2.751000	0.47508|0.47508	2.680000|2.680000	0.91292|0.91292	0.446000|0.446000	0.29264|0.29264	GAG|TTC		0.527	RNPS1-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435415.1	NM_080594		27	78	0	0	0	1	0	27	78				
ZNF436	80818	broad.mit.edu	37	1	23688749	23688749	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr1:23688749G>A	ENST00000314011.4	-	4	1262	c.1126C>T	c.(1126-1128)Cat>Tat	p.H376Y	ZNF436_ENST00000374608.3_Missense_Mutation_p.H376Y	NM_001077195.1	NP_001070663.1	Q9C0F3	ZN436_HUMAN	zinc finger protein 436	376					regulation of transcription, DNA-templated (GO:0006355)|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)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;5.97e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000977)|KIRC - Kidney renal clear cell carcinoma(1967;0.00336)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		GTGATGAGATGAGAGCTCCGG	0.453																																						ENST00000314011.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						c.(1126-1128)Cat>Tat		zinc finger protein 436							99.0	99.0	99.0					1																	23688749		2203	4300	6503	SO:0001583	missense	80818				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:23688749G>A	AB051497	CCDS233.1	1p36	2013-01-08			ENSG00000125945	ENSG00000125945		"""Zinc fingers, C2H2-type"", ""-"""	20814	protein-coding gene	gene with protein product		611703				11214970	Standard	NM_001077195		Approved	KIAA1710, Zfp46	uc001bgt.3	Q9C0F3	OTTHUMG00000003232	ENST00000314011.4:c.1126C>T	1.37:g.23688749G>A	ENSP00000313582:p.His376Tyr					ZNF436_ENST00000374608.3_Missense_Mutation_p.H376Y|ZNF436_ENST00000374609.1_Intron	p.H376Y	NM_001077195.1	NP_001070663.1	Q9C0F3	ZN436_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;5.97e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000977)|KIRC - Kidney renal clear cell carcinoma(1967;0.00336)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)	4	1262	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	376					Q658I9	Missense_Mutation	SNP	ENST00000314011.4	37	c.1126C>T	CCDS233.1	.	.	.	.	.	.	.	.	.	.	G	8.699	0.909312	0.17833	.	.	ENSG00000125945	ENST00000314011;ENST00000374608	T;T	0.07444	3.19;3.19	5.93	5.93	0.95920	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000011	T	0.06462	0.0166	L	0.33753	1.03	0.35461	D	0.79655	B	0.30542	0.284	B	0.14023	0.01	T	0.09684	-1.0663	10	0.02654	T	1	-22.5754	17.8477	0.88736	0.0:0.0:1.0:0.0	.	376	Q9C0F3	ZN436_HUMAN	Y	376	ENSP00000313582:H376Y;ENSP00000363736:H376Y	ENSP00000313582:H376Y	H	-	1	0	ZNF436	23561336	0.000000	0.05858	1.000000	0.80357	0.998000	0.95712	0.065000	0.14466	2.826000	0.97356	0.655000	0.94253	CAT		0.453	ZNF436-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008908.1	NM_030634		29	63	0	0	0	1	0	29	63				
PDE4DIP	9659	broad.mit.edu	37	1	144854605	144854605	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr1:144854605G>A	ENST00000369354.3	-	42	7054	c.6865C>T	c.(6865-6867)Cag>Tag	p.Q2289*	PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369359.4_Nonsense_Mutation_p.Q2425*|PDE4DIP_ENST00000313382.9_Nonsense_Mutation_p.Q2183*|PDE4DIP_ENST00000530740.1_Nonsense_Mutation_p.Q2374*|PDE4DIP_ENST00000369356.4_Nonsense_Mutation_p.Q2289*			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2289					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		AGTCGCTCCTGTTTGGATACT	0.493			T	PDGFRB	MPD																																	ENST00000369359.4				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176						c.(7273-7275)Cag>Tag		phosphodiesterase 4D interacting protein							274.0	232.0	246.0					1																	144854605		2203	4300	6503	SO:0001587	stop_gained	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144854605G>A	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.6865C>T	1.37:g.144854605G>A	ENSP00000358360:p.Gln2289*					PDE4DIP_ENST00000530740.1_Nonsense_Mutation_p.Q2374*|PDE4DIP_ENST00000369356.4_Nonsense_Mutation_p.Q2289*|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369354.3_Nonsense_Mutation_p.Q2289*|PDE4DIP_ENST00000313382.9_Nonsense_Mutation_p.Q2183*	p.Q2425*			Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	45	7311	-			2289					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Nonsense_Mutation	SNP	ENST00000369354.3	37	c.7273C>T	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	.	48	14.002330	0.99774	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359	.	.	.	4.0	4.0	0.46444	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	14.1326	0.65266	0.0:0.0:1.0:0.0	.	.	.	.	X	2183;2289;2289;2374;2425	.	ENSP00000327209:Q2183X	Q	-	1	0	PDE4DIP	143565962	1.000000	0.71417	0.089000	0.20774	0.186000	0.23388	4.117000	0.57877	1.997000	0.58415	0.442000	0.29010	CAG		0.493	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		22	137	0	0	0	1	0	22	137				
PCSK1	5122	broad.mit.edu	37	5	95734729	95734729	+	Missense_Mutation	SNP	G	G	T			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr5:95734729G>T	ENST00000311106.3	-	11	1679	c.1442C>A	c.(1441-1443)gCt>gAt	p.A481D	PCSK1_ENST00000513085.1_5'UTR|PCSK1_ENST00000508626.1_Missense_Mutation_p.A434D|CTD-2337A12.1_ENST00000502645.2_RNA	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	481					cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|metabolic process (GO:0008152)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of insulin secretion (GO:0050796)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	TTCTCCATTAGCTTTCAGGGC	0.348																																						ENST00000311106.3																			0				NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36						c.(1441-1443)gCt>gAt		proprotein convertase subtilisin/kexin type 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						84.0	76.0	78.0					5																	95734729		2202	4300	6502	SO:0001583	missense	5122				cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity	g.chr5:95734729G>T		CCDS4081.1, CCDS54881.1	5q15-q21	2008-07-18			ENSG00000175426	ENSG00000175426			8743	protein-coding gene	gene with protein product	"""prohormone convertase 3"", ""prohormone convertase 1"", ""neuroendocrine convertase 1"", ""proprotein convertase 1"""	162150		NEC1		1765368	Standard	NM_000439		Approved	PC1, PC3, SPC3	uc003kls.2	P29120	OTTHUMG00000122089	ENST00000311106.3:c.1442C>A	5.37:g.95734729G>T	ENSP00000308024:p.Ala481Asp					CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000513085.1_5'UTR|PCSK1_ENST00000508626.1_Missense_Mutation_p.A434D	p.A481D	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN		all cancers(79;3.44e-16)	11	1679	-		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)	481					B7Z8T7|E9PHA1|P78478|Q92532	Missense_Mutation	SNP	ENST00000311106.3	37	c.1442C>A	CCDS4081.1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.978120	0.53720	.	.	ENSG00000175426	ENST00000311106;ENST00000508626	T;T	0.63580	-0.05;-0.05	5.83	4.96	0.65561	Galactose-binding domain-like (1);	0.154755	0.64402	D	0.000017	T	0.62405	0.2425	M	0.67953	2.075	0.47009	D	0.999282	B;B	0.11235	0.003;0.004	B;B	0.12156	0.007;0.005	T	0.59490	-0.7445	10	0.39692	T	0.17	-3.0271	16.4967	0.84247	0.0:0.1386:0.8614:0.0	.	434;481	E9PHA1;P29120	.;NEC1_HUMAN	D	481;434	ENSP00000308024:A481D;ENSP00000421600:A434D	ENSP00000308024:A481D	A	-	2	0	PCSK1	95760485	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	6.353000	0.73032	1.467000	0.48044	0.650000	0.86243	GCT		0.348	PCSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242851.1	NM_000439		4	24	1	0	0.00909568	1	0.00943256	4	24				
MUC5B	727897	broad.mit.edu	37	11	1268938	1268938	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr11:1268938G>A	ENST00000529681.1	+	31	10886	c.10828G>A	c.(10828-10830)Gag>Aag	p.E3610K	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.E3613K	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3610	7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GGCAGTCTGTGAGCAGCCCCT	0.677																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(10837-10839)Gag>Aag		mucin 5B, oligomeric mucus/gel-forming							35.0	38.0	37.0					11																	1268938		1853	4020	5873	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1268938G>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.10828G>A	11.37:g.1268938G>A	ENSP00000436812:p.Glu3610Lys					RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Missense_Mutation_p.E3610K	p.E3613K			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	10895	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	3610	Missing (in Ref. 6; AAB61398).		7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.10837G>A	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	g	10.57	1.387903	0.25031	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.18174	2.23;2.23	4.0	-7.99	0.01131	.	.	.	.	.	T	0.29749	0.0743	L	0.46819	1.47	0.09310	N	1	P;B	0.52842	0.956;0.136	D;B	0.69654	0.965;0.048	T	0.46762	-0.9168	9	0.87932	D	0	.	15.3029	0.73969	0.1486:0.2308:0.6206:0.0	.	4138;3613	A7Y9J9;E9PBJ0	.;.	K	3610;3613;3582;3515	ENSP00000436812:E3610K;ENSP00000415793:E3613K	ENSP00000343037:E3582K	E	+	1	0	MUC5B	1225514	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-7.913000	0.00027	-1.459000	0.01914	-0.531000	0.04308	GAG		0.677	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		10	58	0	0	0	1	0	10	58				
TNKS1BP1	85456	broad.mit.edu	37	11	57070019	57070019	+	Missense_Mutation	SNP	T	T	C			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr11:57070019T>C	ENST00000532437.1	-	6	4908	c.4597A>G	c.(4597-4599)Agc>Ggc	p.S1533G	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.S1533G			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1533	Acidic.|Tankyrase-binding.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|RNA metabolic process (GO:0016070)|telomere maintenance via telomerase (GO:0007004)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear telomeric heterochromatin (GO:0005724)|nucleus (GO:0005634)	ankyrin binding (GO:0030506)|enzyme binding (GO:0019899)			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				CCCTGATCGCTCCACCTGGCT	0.642																																						ENST00000532437.1																			0				breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(4597-4599)Agc>Ggc		tankyrase 1 binding protein 1, 182kDa							33.0	35.0	35.0					11																	57070019		2201	4296	6497	SO:0001583	missense	85456				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding	g.chr11:57070019T>C	AB051528	CCDS7951.1	11q12.2	2008-07-21			ENSG00000149115	ENSG00000149115			19081	protein-coding gene	gene with protein product		607104				11854288	Standard	NM_033396		Approved	TAB182, KIAA1741, FLJ45975	uc001njs.3	Q9C0C2	OTTHUMG00000167022	ENST00000532437.1:c.4597A>G	11.37:g.57070019T>C	ENSP00000437271:p.Ser1533Gly					TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.S1533G	p.S1533G			Q9C0C2	TB182_HUMAN			6	4908	-		all_epithelial(135;0.21)	1533			Acidic.|Tankyrase-binding.		A7E2F8|Q6PJ35|Q6ZV74	Missense_Mutation	SNP	ENST00000532437.1	37	c.4597A>G	CCDS7951.1	.	.	.	.	.	.	.	.	.	.	T	0.040	-1.288773	0.01387	.	.	ENSG00000149115	ENST00000358252;ENST00000532437	T;T	0.27402	1.67;1.67	3.98	-0.732	0.11147	.	1.669710	0.03405	N	0.203887	T	0.07818	0.0196	N	0.00436	-1.5	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.23084	-1.0198	10	0.12430	T	0.62	-1.0747	3.7359	0.08510	0.0:0.4594:0.1867:0.3539	.	1533;114	Q9C0C2;Q86TK2	TB182_HUMAN;.	G	1533	ENSP00000350990:S1533G;ENSP00000437271:S1533G	ENSP00000350990:S1533G	S	-	1	0	TNKS1BP1	56826595	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.126000	0.10563	0.060000	0.16281	-0.366000	0.07423	AGC		0.642	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392455.1	NM_033396		5	20	0	0	0	1	0	5	20				
CYR61	3491	broad.mit.edu	37	1	86047778	86047778	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr1:86047778C>T	ENST00000451137.2	+	3	669	c.445C>T	c.(445-447)Cgg>Tgg	p.R149W	CYR61_ENST00000480413.1_3'UTR	NM_001554.4	NP_001545.2	O00622	CYR61_HUMAN	cysteine-rich, angiogenic inducer, 61	149	VWFC. {ECO:0000255|PROSITE- ProRule:PRU00220}.				anatomical structure morphogenesis (GO:0009653)|apoptotic process involved in heart morphogenesis (GO:0003278)|atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|cell proliferation (GO:0008283)|chemotaxis (GO:0006935)|chondroblast differentiation (GO:0060591)|chorio-allantoic fusion (GO:0060710)|extracellular matrix organization (GO:0030198)|intussusceptive angiogenesis (GO:0002041)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of apoptotic process (GO:0043066)|osteoblast differentiation (GO:0001649)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|reactive oxygen species metabolic process (GO:0072593)|regulation of cell growth (GO:0001558)|regulation of ERK1 and ERK2 cascade (GO:0070372)|ventricular septum development (GO:0003281)|wound healing, spreading of cells (GO:0044319)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|prostate(1)	5				all cancers(265;0.0216)|Epithelial(280;0.0441)		TCCCAACCCTCGGCTGGTCAA	0.567											OREG0013583	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000451137.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|prostate(1)	5						c.(445-447)Cgg>Tgg		cysteine-rich, angiogenic inducer, 61							99.0	98.0	98.0					1																	86047778		2203	4300	6503	SO:0001583	missense	3491				cell proliferation|chemotaxis|positive regulation of BMP signaling pathway|positive regulation of cell migration|positive regulation of osteoblast differentiation|positive regulation of osteoblast proliferation|positive regulation of protein kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell growth|regulation of ERK1 and ERK2 cascade|wound healing, spreading of cells	extracellular region	heparin binding|insulin-like growth factor binding	g.chr1:86047778C>T	AF031385	CCDS706.1	1p22.3	2008-02-05			ENSG00000142871	ENSG00000142871			2654	protein-coding gene	gene with protein product		602369		IGFBP10		9135077	Standard	NM_001554		Approved	GIG1, CCN1	uc001dle.3	O00622	OTTHUMG00000010577	ENST00000451137.2:c.445C>T	1.37:g.86047778C>T	ENSP00000398736:p.Arg149Trp		OREG0013583	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1241	CYR61_ENST00000480413.1_3'UTR	p.R149W	NM_001554.4	NP_001545.2	O00622	CYR61_HUMAN		all cancers(265;0.0216)|Epithelial(280;0.0441)	3	669	+			149			VWFC.		O14934|O43775|Q9BZL7	Missense_Mutation	SNP	ENST00000451137.2	37	c.445C>T	CCDS706.1	.	.	.	.	.	.	.	.	.	.	C	17.57	3.422569	0.62622	.	.	ENSG00000142871	ENST00000451137;ENST00000536321;ENST00000360431	T	0.73469	-0.75	6.08	5.14	0.70334	von Willebrand factor, type C (4);	0.000000	0.85682	D	0.000000	D	0.85566	0.5726	M	0.85777	2.775	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86814	0.2000	10	0.87932	D	0	-15.0018	15.4666	0.75406	0.3005:0.6995:0.0:0.0	.	149	O00622	CYR61_HUMAN	W	149;125;149	ENSP00000398736:R149W	ENSP00000353612:R149W	R	+	1	2	CYR61	85820366	0.800000	0.28916	1.000000	0.80357	0.997000	0.91878	1.462000	0.35266	2.894000	0.99253	0.655000	0.94253	CGG		0.567	CYR61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029187.1	NM_001554		37	82	0	0	0	1	0	37	82				
IL17RD	54756	broad.mit.edu	37	3	57136546	57136546	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr3:57136546C>T	ENST00000296318.7	-	10	1028	c.940G>A	c.(940-942)Gcg>Acg	p.A314T	IL17RD_ENST00000320057.5_Missense_Mutation_p.A170T|IL17RD_ENST00000463523.1_Missense_Mutation_p.A170T|IL17RD_ENST00000427856.2_Missense_Mutation_p.A290T	NM_017563.3	NP_060033.3	Q8NFM7	I17RD_HUMAN	interleukin 17 receptor D	314					signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.A170T(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)	16				KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)		AAGAGCGTCGCGAATGCCGAT	0.557																																						ENST00000296318.7																			1	Substitution - Missense(1)	p.A170T(1)	large_intestine(1)	breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)	16						c.(940-942)Gcg>Acg		interleukin 17 receptor D							70.0	69.0	69.0					3																	57136546		2203	4300	6503	SO:0001583	missense	54756					Golgi membrane|integral to membrane|plasma membrane	receptor activity	g.chr3:57136546C>T	AF494208	CCDS2880.2	3p21.1	2008-02-05			ENSG00000144730	ENSG00000144730		"""Interleukins and interleukin receptors"""	17616	protein-coding gene	gene with protein product		606807				11802164, 12604616	Standard	NM_017563		Approved	SEF, IL17RLM, FLJ35755, IL-17RD	uc003dil.3	Q8NFM7	OTTHUMG00000150171	ENST00000296318.7:c.940G>A	3.37:g.57136546C>T	ENSP00000296318:p.Ala314Thr					IL17RD_ENST00000463523.1_Missense_Mutation_p.A170T|IL17RD_ENST00000427856.2_Missense_Mutation_p.A290T|IL17RD_ENST00000320057.5_Missense_Mutation_p.A170T	p.A314T	NM_017563.3	NP_060033.3	Q8NFM7	I17RD_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)	10	1028	-			314					Q2NKP7|Q58EZ7|Q6RVF4|Q6UWI5|Q8N113|Q8NFS0|Q9UFA0	Missense_Mutation	SNP	ENST00000296318.7	37	c.940G>A	CCDS2880.2	.	.	.	.	.	.	.	.	.	.	C	25.4	4.629876	0.87660	.	.	ENSG00000144730	ENST00000296318;ENST00000320057;ENST00000427856;ENST00000463523	T;T;T;T	0.13778	2.56;2.58;2.57;2.58	5.48	5.48	0.80851	.	0.052258	0.85682	D	0.000000	T	0.17365	0.0417	L	0.29908	0.895	0.80722	D	1	D;D;D	0.62365	0.976;0.991;0.974	B;P;P	0.47251	0.432;0.532;0.542	T	0.00426	-1.1746	10	0.66056	D	0.02	-14.5417	19.5489	0.95310	0.0:1.0:0.0:0.0	.	170;314;290	B4DXM5;Q8NFM7;Q8NFM7-3	.;I17RD_HUMAN;.	T	314;170;290;170	ENSP00000296318:A314T;ENSP00000322250:A170T;ENSP00000399209:A290T;ENSP00000417516:A170T	ENSP00000296318:A314T	A	-	1	0	IL17RD	57111586	1.000000	0.71417	0.853000	0.33588	0.420000	0.31355	7.273000	0.78527	2.850000	0.98022	0.655000	0.94253	GCG		0.557	IL17RD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316680.1	NM_017563		15	25	0	0	0	1	0	15	25				
SPATA16	83893	broad.mit.edu	37	3	172835116	172835116	+	Missense_Mutation	SNP	G	G	A	rs144595913		TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr3:172835116G>A	ENST00000351008.3	-	2	589	c.406C>T	c.(406-408)Cgc>Tgc	p.R136C		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	136					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)				breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			AACTCATAGCGAACACCCATT	0.418													G|||	1	0.000199681	0.0008	0.0	5008	,	,		22137	0.0		0.0	False		,,,				2504	0.0					ENST00000351008.3																			0				breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43						c.(406-408)Cgc>Tgc		spermatogenesis associated 16		G	CYS/ARG	0,4406		0,0,2203	270.0	247.0	255.0		406	4.5	1.0	3	dbSNP_134	255	2,8598	2.2+/-6.3	0,2,4298	yes	missense	SPATA16	NM_031955.5	180	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	136/570	172835116	2,13004	2203	4300	6503	SO:0001583	missense	83893				cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding	g.chr3:172835116G>A	AF345909	CCDS3221.1	3q26.31	2009-01-05			ENSG00000144962	ENSG00000144962			29935	protein-coding gene	gene with protein product		609856				12529416, 17847006	Standard	NM_031955		Approved	NYD-SP12	uc003fin.4	Q9BXB7	OTTHUMG00000156865	ENST00000351008.3:c.406C>T	3.37:g.172835116G>A	ENSP00000341765:p.Arg136Cys						p.R136C	NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)		2	589	-	Ovarian(172;0.00319)|Breast(254;0.197)		136					Q0R0N4|Q0R0S0|Q0R0W2|Q0R129|Q0R131|Q0R140|Q0R1B8|Q0R1G5|Q0R1I2|Q0R1J6|Q0R1S4|Q0R202|Q0R280|Q0R2F8|Q0R2N6|Q0R2N7|Q0R2R0|Q0R2R1|Q0R2S3|Q0R2S4|Q0R2S5|Q0R2T4|Q0R2T7|Q0R2U2|Q0R2U8|Q0R2U9|Q0R2V5|Q0R2V7|Q8NE67	Missense_Mutation	SNP	ENST00000351008.3	37	c.406C>T	CCDS3221.1	.	.	.	.	.	.	.	.	.	.	G	10.72	1.430401	0.25726	0.0	2.33E-4	ENSG00000144962	ENST00000351008	T	0.16743	2.32	5.67	4.52	0.55395	.	0.613130	0.16268	N	0.221889	T	0.09024	0.0223	N	0.14661	0.345	0.30376	N	0.782396	P	0.48407	0.91	B	0.37780	0.258	T	0.06862	-1.0803	10	0.59425	D	0.04	-0.0848	6.9099	0.24329	0.0:0.079:0.1599:0.7612	.	136	Q9BXB7	SPT16_HUMAN	C	136	ENSP00000341765:R136C	ENSP00000341765:R136C	R	-	1	0	SPATA16	174317810	0.990000	0.36364	1.000000	0.80357	0.155000	0.21991	1.843000	0.39259	0.981000	0.38548	-0.410000	0.06199	CGC		0.418	SPATA16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346322.1	NM_031955		45	101	0	0	0	1	0	45	101				
SYNGAP1	8831	broad.mit.edu	37	6	33405967	33405967	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr6:33405967C>T	ENST00000418600.2	+	8	1386	c.1285C>T	c.(1285-1287)Cgg>Tgg	p.R429W	SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000293748.5_Missense_Mutation_p.R429W|SYNGAP1_ENST00000428982.2_Missense_Mutation_p.R370W|MIR5004_ENST00000579078.1_RNA	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	429					dendrite development (GO:0016358)|negative regulation of axonogenesis (GO:0050771)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|pattern specification process (GO:0007389)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|receptor clustering (GO:0043113)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of MAPK cascade (GO:0043408)|regulation of synapse structure and activity (GO:0050803)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Rab GTPase activator activity (GO:0005097)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						CAACCATTATCGGATGCTGTG	0.522																																						ENST00000418600.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						c.(1285-1287)Cgg>Tgg		synaptic Ras GTPase activating protein 1							158.0	157.0	157.0					6																	33405967		2203	4300	6503	SO:0001583	missense	8831				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding	g.chr6:33405967C>T	AB067525	CCDS34434.2	6p21.3	2010-06-25	2010-06-25		ENSG00000197283	ENSG00000197283			11497	protein-coding gene	gene with protein product		603384	"""synaptic Ras GTPase activating protein 1 homolog (rat)"""			9581761, 18323856	Standard	NM_006772		Approved	SYNGAP, RASA5, KIAA1938	uc011dri.2	Q96PV0	OTTHUMG00000031096	ENST00000418600.2:c.1285C>T	6.37:g.33405967C>T	ENSP00000403636:p.Arg429Trp					SYNGAP1_ENST00000293748.5_Missense_Mutation_p.R429W|SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000428982.2_Missense_Mutation_p.R370W	p.R429W	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN			8	1386	+			429					A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	Missense_Mutation	SNP	ENST00000418600.2	37	c.1285C>T	CCDS34434.2	.	.	.	.	.	.	.	.	.	.	C	19.50	3.839315	0.71488	.	.	ENSG00000197283	ENST00000293748;ENST00000418600;ENST00000449372;ENST00000428982	T;T;T	0.17528	2.27;2.27;2.27	4.86	3.99	0.46301	Rho GTPase activation protein (1);Ras GTPase-activating protein (1);	0.000000	0.64402	D	0.000001	T	0.22704	0.0548	L	0.48642	1.525	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.995;0.998;0.998;0.955	T	0.01635	-1.1307	10	0.62326	D	0.03	.	12.3482	0.55132	0.1698:0.8302:0.0:0.0	.	429;429;429;429	Q96PV0;Q96PV0-2;Q96PV0-4;B7ZCA0	SYGP1_HUMAN;.;.;.	W	429;429;429;370	ENSP00000293748:R429W;ENSP00000403636:R429W;ENSP00000412475:R370W	ENSP00000293748:R429W	R	+	1	2	SYNGAP1	33513945	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	2.010000	0.40913	1.243000	0.43853	0.650000	0.86243	CGG		0.522	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076151.4	XM_166407		50	115	0	0	0	1	0	50	115				
PTCD3	55037	broad.mit.edu	37	2	86338237	86338237	+	Splice_Site	SNP	G	G	T			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr2:86338237G>T	ENST00000254630.7	+	4	262	c.196G>T	c.(196-198)Gat>Tat	p.D66Y	PTCD3_ENST00000409277.3_Splice_Site_p.D66Y|PTCD3_ENST00000465560.1_3'UTR	NM_017952.5	NP_060422.4	Q96EY7	PTCD3_HUMAN	pentatricopeptide repeat domain 3	66					mitochondrial translation (GO:0032543)|regulation of translation (GO:0006417)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|rRNA binding (GO:0019843)			NS(1)|breast(2)|endometrium(3)|kidney(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	22						TATTTTTAGGGATAAAGTAGC	0.383																																						ENST00000254630.7																			0				NS(1)|breast(2)|endometrium(3)|kidney(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	22						c.e4-1		pentatricopeptide repeat domain 3							111.0	113.0	112.0					2																	86338237		2203	4300	6503	SO:0001630	splice_region_variant	55037					mitochondrion	protein binding	g.chr2:86338237G>T		CCDS33235.1	2p11.2	2014-02-12	2012-02-24		ENSG00000132300	ENSG00000132300			24717	protein-coding gene	gene with protein product		614918				8889548	Standard	NM_017952		Approved	FLJ20758, DKFZp666K071	uc002sqw.2	Q96EY7	OTTHUMG00000153168	ENST00000254630.7:c.195-1G>T	2.37:g.86338237G>T						PTCD3_ENST00000465560.1_3'UTR|PTCD3_ENST00000409277.3_Splice_Site_p.D66_splice	p.D66_splice	NM_017952.5	NP_060422.4	Q96EY7	PTCD3_HUMAN			4	262	+			66					A6NHD2|D6W5M1|Q597H0|Q658Y9|Q9BUZ8|Q9NWL0	Splice_Site	SNP	ENST00000254630.7	37	c.194_splice	CCDS33235.1	.	.	.	.	.	.	.	.	.	.	G	18.59	3.655948	0.67586	.	.	ENSG00000132300	ENST00000254630;ENST00000409783;ENST00000409277	T;T;T	0.37235	1.21;1.21;1.21	5.17	5.17	0.71159	.	0.138974	0.64402	D	0.000005	T	0.61223	0.2330	M	0.76002	2.32	0.48762	D	0.999709	D	0.89917	1.0	D	0.80764	0.994	T	0.64803	-0.6321	10	0.72032	D	0.01	-22.647	16.8008	0.85614	0.0:0.0:1.0:0.0	.	66	Q96EY7	PTCD3_HUMAN	Y	66	ENSP00000254630:D66Y;ENSP00000386922:D66Y;ENSP00000386462:D66Y	ENSP00000254630:D66Y	D	+	1	0	PTCD3	86191748	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	4.122000	0.57910	2.572000	0.86782	0.655000	0.94253	GAT		0.383	PTCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329854.1	NM_017952	Missense_Mutation	9	26	1	0	3.09899e-07	1	3.36324e-07	9	26				
ZNF404	342908	broad.mit.edu	37	19	44377478	44377478	+	Silent	SNP	C	C	T			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr19:44377478C>T	ENST00000587539.1	-	3	887	c.888G>A	c.(886-888)gaG>gaA	p.E296E	ZNF404_ENST00000324394.6_Silent_p.E294E	NM_001033719.2	NP_001028891.2	Q494X3	ZN404_HUMAN	zinc finger protein 404	296					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)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1)	17		Prostate(69;0.0352)				TATATGGTTTCTCACCAGAAT	0.363																																						ENST00000587539.1																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1)	17						c.(886-888)gaG>gaA		zinc finger protein 404							35.0	37.0	36.0					19																	44377478		2012	4193	6205	SO:0001819	synonymous_variant	342908				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44377478C>T	XM_092027	CCDS59394.1	19q13.31	2013-01-08				ENSG00000176222		"""Zinc fingers, C2H2-type"", ""-"""	19417	protein-coding gene	gene with protein product							Standard	NM_001033719		Approved		uc002oxs.5	Q494X3		ENST00000587539.1:c.888G>A	19.37:g.44377478C>T						ZNF404_ENST00000324394.6_Silent_p.E294E	p.E296E	NM_001033719.2	NP_001028891.2	Q494X3	ZN404_HUMAN			3	887	-		Prostate(69;0.0352)	296					A4FU30|K7ELF2	Silent	SNP	ENST00000587539.1	37	c.888G>A	CCDS59394.1																																																																																				0.363	ZNF404-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460019.1	NM_001033719		11	17	0	0	0	1	0	11	17				
NUDT4	11163	broad.mit.edu	37	12	93789270	93789270	+	Silent	SNP	A	A	G			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr12:93789270A>G	ENST00000415493.2	+	3	643	c.216A>G	c.(214-216)ggA>ggG	p.G72G	NUDT4_ENST00000549992.1_Silent_p.G20G|NUDT4_ENST00000547014.1_Silent_p.G20G|NUDT4_ENST00000548662.1_Silent_p.G20G|NUDT4_ENST00000337179.5_Silent_p.G72G	NM_019094.4	NP_061967.3	Q9NZJ9	NUDT4_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 4	72	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				calcium-mediated signaling (GO:0019722)|cyclic nucleotide metabolic process (GO:0009187)|cyclic-nucleotide-mediated signaling (GO:0019935)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|regulation of RNA export from nucleus (GO:0046831)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)	diphosphoinositol-polyphosphate diphosphatase activity (GO:0008486)|inositol diphosphate tetrakisphosphate diphosphatase activity (GO:0052840)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 1-diphosphatase activity (GO:0052846)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052847)|inositol-1-diphosphate-2,3,4,5,6-pentakisphosphate diphosphatase activity (GO:0052843)|inositol-3,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052848)|inositol-3-diphosphate-1,2,4,5,6-pentakisphosphate diphosphatase activity (GO:0052844)|inositol-5-diphosphate-1,2,3,4,6-pentakisphosphate diphosphatase activity (GO:0052845)|metal ion binding (GO:0046872)|snoRNA binding (GO:0030515)			endometrium(2)|kidney(1)|lung(2)	5						AATAGGCTGGAGTCAAAGGAA	0.279																																						ENST00000337179.5																			0				endometrium(2)|kidney(1)|lung(2)	5						c.(214-216)ggA>ggG		nudix (nucleoside diphosphate linked moiety X)-type motif 4							80.0	84.0	83.0					12																	93789270		2203	4300	6503	SO:0001819	synonymous_variant	11163				calcium-mediated signaling|cyclic nucleotide metabolic process|cyclic-nucleotide-mediated signaling|intracellular transport|regulation of RNA export from nucleus	cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	g.chr12:93789270A>G	AF067803	CCDS9044.1, CCDS44952.1, CCDS73504.1	12q21	2008-09-04			ENSG00000173598	ENSG00000173598		"""Nudix motif containing"""	8051	protein-coding gene	gene with protein product	"""diphosphoinositol polyphosphate phosphohydrolase type 2"""	609229				10777568, 11376937	Standard	XM_005268595		Approved	DIPP2, HDCMB47P, KIAA0487, DIPP2alpha, DIPP2beta	uc001tcm.3	Q9NZJ9	OTTHUMG00000170155	ENST00000415493.2:c.216A>G	12.37:g.93789270A>G						NUDT4_ENST00000548662.1_Silent_p.G20G|NUDT4_ENST00000547014.1_Silent_p.G20G|NUDT4_ENST00000549992.1_Silent_p.G20G|NUDT4_ENST00000415493.2_Silent_p.G72G	p.G72G	NM_199040.2	NP_950241.1	Q9NZJ9	NUDT4_HUMAN			3	656	+			72			Nudix hydrolase.		B7Z916|Q4AEJ6|Q53EZ2|Q68DD7|Q9NPC5|Q9NS30|Q9NZK0|Q9NZK1	Silent	SNP	ENST00000415493.2	37	c.216A>G	CCDS44952.1																																																																																				0.279	NUDT4-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000407702.1	NM_019094		4	34	0	0	0	1	0	4	34				
GCK	2645	broad.mit.edu	37	7	44185127	44185127	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr7:44185127C>T	ENST00000403799.3	-	9	1691	c.1222G>A	c.(1222-1224)Gtg>Atg	p.V408M	GCK_ENST00000437084.1_Missense_Mutation_p.V391M|GCK_ENST00000345378.2_Missense_Mutation_p.V409M|GCK_ENST00000395796.3_Missense_Mutation_p.V407M	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN	glucokinase (hexokinase 4)	408	Hexokinase type-2.				calcium ion import (GO:0070509)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|cellular response to glucose starvation (GO:0042149)|cellular response to insulin stimulus (GO:0032869)|cellular response to leptin stimulus (GO:0044320)|detection of glucose (GO:0051594)|endocrine pancreas development (GO:0031018)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|NADP metabolic process (GO:0006739)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of gluconeogenesis (GO:0045721)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of insulin secretion (GO:0032024)|positive regulation of phosphorylation (GO:0042327)|regulation of glucose transport (GO:0010827)|regulation of glycolytic process (GO:0006110)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transport (GO:0043266)|second-messenger-mediated signaling (GO:0019932)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|secretory granule (GO:0030141)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|magnesium ion binding (GO:0000287)			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						GAGCCATCCACGCCCACAGTG	0.672																																						ENST00000403799.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						c.(1222-1224)Gtg>Atg		glucokinase (hexokinase 4)							31.0	31.0	31.0					7																	44185127		2203	4300	6503	SO:0001583	missense	2645				cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding	g.chr7:44185127C>T	AF041014	CCDS5479.1, CCDS5480.1, CCDS5481.1	7p15.3-p15.1	2008-02-07	2008-02-07		ENSG00000106633	ENSG00000106633	2.7.1.2, 2.7.1.1		4195	protein-coding gene	gene with protein product		138079	"""maturity onset diabetes of the young 2"""	MODY2		1740341, 1502186	Standard	NM_033507		Approved	HK4	uc003tkk.1	P35557	OTTHUMG00000022903	ENST00000403799.3:c.1222G>A	7.37:g.44185127C>T	ENSP00000384247:p.Val408Met					GCK_ENST00000437084.1_Missense_Mutation_p.V391M|GCK_ENST00000395796.3_Missense_Mutation_p.V407M|GCK_ENST00000345378.2_Missense_Mutation_p.V409M	p.V408M	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN			9	1691	-			408					A4D2J2|A4D2J3|Q05810	Missense_Mutation	SNP	ENST00000403799.3	37	c.1222G>A	CCDS5479.1	.	.	.	.	.	.	.	.	.	.	C	33	5.200459	0.94997	.	.	ENSG00000106633	ENST00000336642;ENST00000403799;ENST00000395796;ENST00000345378;ENST00000437084	D;D;D;D;D	0.97256	-4.31;-4.31;-4.31;-4.31;-4.31	5.57	5.57	0.84162	Hexokinase, C-terminal (1);	0.117022	0.56097	D	0.000026	D	0.98021	0.9348	L	0.60067	1.865	0.80722	D	1	D;D;D;D;D	0.89917	0.998;1.0;0.998;1.0;0.998	P;D;P;D;P	0.78314	0.88;0.984;0.809;0.991;0.88	D	0.98802	1.0740	10	0.66056	D	0.02	-44.5372	19.1429	0.93452	0.0:1.0:0.0:0.0	.	408;409;407;391;408	P35557;P35557-2;P35557-3;C9JQD1;A7LFL1	HXK4_HUMAN;.;.;.;.	M	92;408;407;409;391	ENSP00000338009:V92M;ENSP00000384247:V408M;ENSP00000379142:V407M;ENSP00000223366:V409M;ENSP00000402840:V391M	ENSP00000338009:V92M	V	-	1	0	GCK	44151652	0.983000	0.35010	1.000000	0.80357	0.989000	0.77384	2.683000	0.46943	2.627000	0.88993	0.561000	0.74099	GTG		0.672	GCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251069.2			4	13	0	0	0	1	0	4	13				
GPATCH4	54865	broad.mit.edu	37	1	156566266	156566266	+	Missense_Mutation	SNP	G	G	T			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr1:156566266G>T	ENST00000438976.2	-	6	383	c.353C>A	c.(352-354)gCt>gAt	p.A118D	GPATCH4_ENST00000368232.4_Missense_Mutation_p.A113D|GPATCH4_ENST00000497287.1_5'UTR			Q5T3I0	GPTC4_HUMAN	G patch domain containing 4	113							poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(3)|stomach(1)	17	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AGTCAATGTAGCCATCTAGGA	0.502																																						ENST00000368232.4																			0				autonomic_ganglia(1)|breast(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(3)|stomach(1)	17						c.(337-339)gCt>gAt		G patch domain containing 4							165.0	146.0	153.0					1																	156566266		2203	4300	6503	SO:0001583	missense	54865					intracellular	nucleic acid binding	g.chr1:156566266G>T	BC056904	CCDS1146.1, CCDS44245.1	1q22	2013-01-28		2006-12-13	ENSG00000160818	ENSG00000160818		"""G patch domain containing"""	25982	protein-coding gene	gene with protein product				GPATC4		12477932	Standard	NM_015590		Approved	FLJ20249, DKFZP434F1735	uc001fpl.3	Q5T3I0	OTTHUMG00000033203	ENST00000438976.2:c.353C>A	1.37:g.156566266G>T	ENSP00000396441:p.Ala118Asp					GPATCH4_ENST00000438976.2_Missense_Mutation_p.A118D|GPATCH4_ENST00000497287.1_5'UTR	p.A113D	NM_015590.3|NM_182679.2	NP_056405.2|NP_872620.1	Q5T3I0	GPTC4_HUMAN			6	470	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		113					Q5T3I1|Q6ZUE7|Q8IWG8|Q9NXH4	Missense_Mutation	SNP	ENST00000438976.2	37	c.338C>A	CCDS44245.1	.	.	.	.	.	.	.	.	.	.	G	12.97	2.097513	0.37048	.	.	ENSG00000160818	ENST00000368232;ENST00000368229;ENST00000438976;ENST00000415314	.	.	.	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.46737	0.1408	M	0.71296	2.17	0.80722	D	1	P;P	0.42409	0.779;0.779	B;B	0.37480	0.251;0.251	T	0.56792	-0.7920	9	0.56958	D	0.05	-1.4824	14.8575	0.70351	0.0:0.0:1.0:0.0	.	118;113	E9PAV9;Q5T3I0	.;GPTC4_HUMAN	D	113;113;118;84	.	ENSP00000357212:A113D	A	-	2	0	GPATCH4	154832890	1.000000	0.71417	0.984000	0.44739	0.052000	0.14988	4.519000	0.60517	2.884000	0.98904	0.655000	0.94253	GCT		0.502	GPATCH4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386947.1	NM_017725		32	73	1	0	3.1745e-13	1	3.64286e-13	32	73				
GGTLC2	91227	broad.mit.edu	37	22	22989341	22989341	+	Silent	SNP	C	C	T			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr22:22989341C>T	ENST00000480559.1	+	2	294	c.294C>T	c.(292-294)ttC>ttT	p.F98F	GGTLC2_ENST00000448514.1_Silent_p.F98F|POM121L1P_ENST00000402027.1_RNA	NM_199127.2	NP_954578.2	Q14390	GGTL2_HUMAN	gamma-glutamyltransferase light chain 2	98					glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|extracellular vesicular exosome (GO:0070062)	gamma-glutamyltransferase activity (GO:0003840)			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	11	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.3e-31)|Acute lymphoblastic leukemia(6;5.54e-23)		READ - Rectum adenocarcinoma(21;0.145)		CTGCCAATTTCATCCAGCCAG	0.612																																						ENST00000448514.1																			0				endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	11						c.(292-294)ttC>ttT		gamma-glutamyltransferase light chain 2							95.0	102.0	100.0					22																	22989341		2203	4298	6501	SO:0001819	synonymous_variant	91227				glutathione biosynthetic process		gamma-glutamyltransferase activity	g.chr22:22989341C>T	X98922	CCDS13802.2	22q11.21	2008-03-25	2008-03-10	2008-03-10	ENSG00000100121	ENSG00000100121		"""Gamma-glutamyltransferases"""	18596	protein-coding gene	gene with protein product		612339	"""gamma-glutamyltransferase-like 4"""	GGTL4		9074928, 18357469	Standard	NM_199127		Approved		uc010gtt.2	Q14390	OTTHUMG00000151177	ENST00000480559.1:c.294C>T	22.37:g.22989341C>T						GGTLC2_ENST00000480559.1_Silent_p.F98F	p.F98F			Q14390	GGTL2_HUMAN		READ - Rectum adenocarcinoma(21;0.145)	2	294	+	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.3e-31)|Acute lymphoblastic leukemia(6;5.54e-23)	98					A1A516|A2VCM9|Q5NV76|Q6ISH0	Silent	SNP	ENST00000480559.1	37	c.294C>T	CCDS13802.2																																																																																				0.612	GGTLC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321662.1	NM_199127		64	75	0	0	0	1	0	64	75				
PLA2G7	7941	broad.mit.edu	37	6	46678285	46678285	+	Silent	SNP	C	C	A	rs200351797		TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr6:46678285C>A	ENST00000274793.7	-	8	970	c.774G>T	c.(772-774)ctG>ctT	p.L258L	PLA2G7_ENST00000538237.1_Silent_p.L213L|PLA2G7_ENST00000537365.1_Silent_p.L258L|PLA2G7_ENST00000541026.1_Silent_p.L131L	NM_005084.3	NP_005075.3	Q13093	PAFA_HUMAN	phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)	258					cellular protein metabolic process (GO:0044267)|lipid catabolic process (GO:0016042)|lipid oxidation (GO:0034440)|low-density lipoprotein particle remodeling (GO:0034374)|plasma lipoprotein particle oxidation (GO:0034441)|positive regulation of inflammatory response (GO:0050729)|positive regulation of monocyte chemotaxis (GO:0090026)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|low-density lipoprotein particle (GO:0034362)	1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)|calcium-independent phospholipase A2 activity (GO:0047499)|phospholipid binding (GO:0005543)			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14			Lung(136;0.192)			AGCTTACCTTCAGTTGTTCCA	0.318																																						ENST00000274793.7																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14						c.(772-774)ctG>ctT		phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)							91.0	90.0	91.0					6																	46678285		2203	4300	6503	SO:0001819	synonymous_variant	7941				inflammatory response|lipid catabolic process	extracellular space	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding	g.chr6:46678285C>A	U20157	CCDS4917.1	6p21.2-p12	2008-09-19			ENSG00000146070	ENSG00000146070	3.1.1.4		9040	protein-coding gene	gene with protein product		601690				7700381, 8624782	Standard	NM_005084		Approved	PAFAH, LDL-PLA2	uc021zae.1	Q13093	OTTHUMG00000014789	ENST00000274793.7:c.774G>T	6.37:g.46678285C>A						PLA2G7_ENST00000538237.1_Silent_p.L213L|PLA2G7_ENST00000541026.1_Silent_p.L131L|PLA2G7_ENST00000537365.1_Silent_p.L258L	p.L258L	NM_005084.3	NP_005075.3	Q13093	PAFA_HUMAN	Lung(136;0.192)		8	970	-			258					A5HTT5|Q15692|Q5VTT1|Q8IVA2	Silent	SNP	ENST00000274793.7	37	c.774G>T	CCDS4917.1																																																																																				0.318	PLA2G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040802.1			14	37	1	0	4.36969e-10	1	4.89405e-10	14	37				
PMS2P4	5382	broad.mit.edu	37	7	66767786	66767786	+	RNA	SNP	C	C	T			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr7:66767786C>T	ENST00000414507.1	-	0	0				STAG3L4_ENST00000416602.2_RNA					postmeiotic segregation increased 2 pseudogene 4																		CGCGCCTCTCCGTGTGGAGCT	0.647																																						ENST00000416602.2																			0				endometrium(2)|lung(5)	7																																														64940							g.chr7:66767786C>T	D38438		7q11.22	2010-10-26	2010-10-26	2010-10-26	ENSG00000067601	ENSG00000067601			9129	pseudogene	pseudogene	"""PMS2 pseudogene"""		"""postmeiotic segregation increased 2-like 4"", ""postmeiotic segregation increased 2-like 4 pseudogene"""	PMS2L4		8586419	Standard	NR_046297		Approved	PMS6	uc003tvo.3		OTTHUMG00000156923		7.37:g.66767786C>T								NR_040586.1		Q8TBR4	STG34_HUMAN			0	179	+		Lung NSC(55;0.0839)|all_lung(88;0.181)							RNA	SNP	ENST00000414507.1	37																																																																																						0.647	PMS2P4-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000346632.1	NR_022007		6	12	0	0	0	1	0	6	12				
HIVEP1	3096	broad.mit.edu	37	6	12164516	12164516	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr6:12164516C>T	ENST00000379388.2	+	9	8311	c.7979C>T	c.(7978-7980)aCg>aTg	p.T2660M	HIVEP1_ENST00000541134.1_Missense_Mutation_p.T525M	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	2660					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				CCAGCGTCCACGTCACAACCT	0.537																																						ENST00000379388.2																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90						c.(7978-7980)aCg>aTg		human immunodeficiency virus type I enhancer binding protein 1							46.0	50.0	49.0					6																	12164516		2139	4249	6388	SO:0001583	missense	3096				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:12164516C>T	J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"""Zinc fingers, C2H2-type"""	4920	protein-coding gene	gene with protein product		194540	"""human immunodeficiency virus type I enhancer-binding protein 1"", ""zinc finger protein 40"""	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.7979C>T	6.37:g.12164516C>T	ENSP00000368698:p.Thr2660Met					HIVEP1_ENST00000541134.1_Missense_Mutation_p.T525M	p.T2660M	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN			9	8311	+	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)	2660					B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	ENST00000379388.2	37	c.7979C>T	CCDS43426.1	.	.	.	.	.	.	.	.	.	.	C	10.43	1.349424	0.24426	.	.	ENSG00000095951	ENST00000379388;ENST00000541134;ENST00000542327	T;T	0.32988	2.95;1.43	3.81	-0.546	0.11840	.	2.116220	0.02610	N	0.102004	T	0.07683	0.0193	L	0.34521	1.04	0.09310	N	1	P	0.46220	0.874	B	0.33521	0.165	T	0.19063	-1.0317	10	0.59425	D	0.04	3.1615	5.607	0.17385	0.0:0.5193:0.303:0.1777	.	2660	P15822	ZEP1_HUMAN	M	2660;525;642	ENSP00000368698:T2660M;ENSP00000445617:T525M	ENSP00000368698:T2660M	T	+	2	0	HIVEP1	12272502	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.057000	0.14279	-0.130000	0.11599	0.585000	0.79938	ACG		0.537	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	NM_002114		18	29	0	0	0	1	0	18	29				
ZNF486	90649	broad.mit.edu	37	19	20296808	20296808	+	Missense_Mutation	SNP	C	C	G			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr19:20296808C>G	ENST00000335117.8	+	3	227	c.170C>G	c.(169-171)tCt>tGt	p.S57C	CTC-260E6.6_ENST00000593655.1_RNA|ZNF486_ENST00000597083.1_Missense_Mutation_p.S57C|CTC-260E6.6_ENST00000586657.1_RNA|CTC-260E6.6_ENST00000585498.1_RNA	NM_052852.3	NP_443084.2	Q96H40	ZN486_HUMAN	zinc finger protein 486	57	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11						ATTATTGTCTCTAAGCCAGAC	0.363																																						ENST00000335117.8																			0				endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11						c.(169-171)tCt>tGt		zinc finger protein 486							69.0	73.0	71.0					19																	20296808		2166	4289	6455	SO:0001583	missense	90649				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:20296808C>G	BC008936	CCDS46029.1	19p12	2014-02-13	2003-12-16	2003-12-17	ENSG00000256229	ENSG00000256229		"""Zinc fingers, C2H2-type"", ""-"""	20807	protein-coding gene	gene with protein product			"""KRAB domain only 2"""	KRBO2			Standard	NM_052852		Approved	MGC2396	uc002nou.3	Q96H40	OTTHUMG00000179731	ENST00000335117.8:c.170C>G	19.37:g.20296808C>G	ENSP00000335042:p.Ser57Cys					CTC-260E6.6_ENST00000585498.1_RNA|CTC-260E6.6_ENST00000593655.1_RNA|CTC-260E6.6_ENST00000586657.1_RNA|ZNF486_ENST00000597083.1_Missense_Mutation_p.S57C	p.S57C	NM_052852.3	NP_443084.2	Q96H40	ZN486_HUMAN			3	227	+			57			KRAB.		Q0VG00	Missense_Mutation	SNP	ENST00000335117.8	37	c.170C>G	CCDS46029.1	.	.	.	.	.	.	.	.	.	.	c	8.158	0.788796	0.16258	.	.	ENSG00000256229	ENST00000545779;ENST00000335117	T	0.00882	5.58	0.109	0.109	0.14578	Krueppel-associated box (3);	.	.	.	.	T	0.02888	0.0086	L	0.55213	1.73	0.09310	N	1	D	0.76494	0.999	D	0.70227	0.968	T	0.44667	-0.9313	8	0.62326	D	0.03	.	.	.	.	.	57	Q96H40	ZN486_HUMAN	C	96;57	ENSP00000335042:S57C	ENSP00000335042:S57C	S	+	2	0	ZNF486	20157808	0.111000	0.22076	0.071000	0.20095	0.071000	0.16799	-0.118000	0.10692	0.181000	0.19994	0.184000	0.17185	TCT		0.363	ZNF486-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447843.2	NM_052852		7	43	0	0	0	1	0	7	43				
DUSP6	1848	broad.mit.edu	37	12	89744605	89744605	+	Missense_Mutation	SNP	A	A	T			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr12:89744605A>T	ENST00000279488.7	-	2	1829	c.598T>A	c.(598-600)Tcc>Acc	p.S200T	DUSP6_ENST00000547291.1_Missense_Mutation_p.S75T|DUSP6_ENST00000308385.6_Intron|DUSP6_ENST00000547140.1_5'UTR	NM_001946.2	NP_001937.2	Q16828	DUS6_HUMAN	dual specificity phosphatase 6	200					cell differentiation (GO:0030154)|dorsal/ventral pattern formation (GO:0009953)|inactivation of MAPK activity (GO:0000188)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of apoptotic process (GO:0043065)|regulation of endodermal cell fate specification (GO:0042663)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of heart growth (GO:0060420)|response to drug (GO:0042493)|response to nitrosative stress (GO:0051409)|response to organic cyclic compound (GO:0014070)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)			large_intestine(5)|lung(8)|skin(2)|urinary_tract(1)	16						TGGCTGTTGGACAGCGGACTA	0.572																																					Colon(132;3456 5224)	ENST00000279488.7																			0				large_intestine(5)|lung(8)|skin(2)|urinary_tract(1)	16						c.(598-600)Tcc>Acc		dual specificity phosphatase 6							119.0	115.0	116.0					12																	89744605		2203	4300	6503	SO:0001583	missense	1848				dorsal/ventral pattern formation|inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|nerve growth factor receptor signaling pathway|positive regulation of apoptosis|regulation of endodermal cell fate specification|regulation of fibroblast growth factor receptor signaling pathway|regulation of heart growth|response to nitrosative stress|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	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr12:89744605A>T	BC037236	CCDS9033.1, CCDS9034.1	12q22-q23	2011-06-09				ENSG00000139318		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3072	protein-coding gene	gene with protein product		602748				8626780, 9205128	Standard	NM_001946		Approved	MKP-3, PYST1	uc001tay.3	Q16828		ENST00000279488.7:c.598T>A	12.37:g.89744605A>T	ENSP00000279488:p.Ser200Thr					DUSP6_ENST00000308385.6_Intron|DUSP6_ENST00000547291.1_Missense_Mutation_p.S75T|DUSP6_ENST00000547140.1_5'UTR	p.S200T	NM_001946.2	NP_001937.2	Q16828	DUS6_HUMAN			2	1829	-			200					O75109|Q53Y75|Q9BSH6	Missense_Mutation	SNP	ENST00000279488.7	37	c.598T>A	CCDS9033.1	.	.	.	.	.	.	.	.	.	.	A	14.00	2.404220	0.42613	.	.	ENSG00000139318	ENST00000279488;ENST00000547291	T;T	0.03004	4.3;4.08	5.64	1.69	0.24217	.	0.098333	0.64402	N	0.000001	T	0.03053	0.0090	L	0.44542	1.39	0.58432	D	0.999991	B	0.12630	0.006	B	0.12156	0.007	T	0.47636	-0.9102	10	0.20046	T	0.44	.	4.2091	0.10503	0.6762:0.1304:0.0684:0.1249	.	200	Q16828	DUS6_HUMAN	T	200;75	ENSP00000279488:S200T;ENSP00000449838:S75T	ENSP00000279488:S200T	S	-	1	0	DUSP6	88268736	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	3.072000	0.50049	0.387000	0.25024	0.533000	0.62120	TCC		0.572	DUSP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406534.2	NM_001946, NM_022652		20	83	0	0	0	1	0	20	83				
LDOC1	23641	broad.mit.edu	37	X	140271160	140271160	+	Missense_Mutation	SNP	T	T	C			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chrX:140271160T>C	ENST00000370526.2	-	1	150	c.47A>G	c.(46-48)cAc>cGc	p.H16R	LDOC1_ENST00000460721.1_5'UTR	NM_012317.2	NP_036449.1	O95751	LDOC1_HUMAN	leucine zipper, down-regulated in cancer 1	16					negative regulation of cell proliferation (GO:0008285)	nucleus (GO:0005634)				endometrium(6)|large_intestine(1)|lung(6)|ovary(1)	14	Acute lymphoblastic leukemia(192;7.65e-05)					CAGGGCGCGGTGCCGCATCAG	0.672																																						ENST00000370526.2																			0				endometrium(6)|large_intestine(1)|lung(6)|ovary(1)	14						c.(46-48)cAc>cGc		leucine zipper, down-regulated in cancer 1							27.0	22.0	23.0					X																	140271160		2201	4296	6497	SO:0001583	missense	23641				negative regulation of cell proliferation	nucleus	protein binding	g.chrX:140271160T>C	AB019527	CCDS14672.1	Xq27	2008-02-05			ENSG00000182195	ENSG00000182195			6548	protein-coding gene	gene with protein product		300402		BCUR1		10403563, 15716091, 16093683	Standard	NM_012317		Approved	Mar7, Mart7	uc004fbj.3	O95751	OTTHUMG00000022558	ENST00000370526.2:c.47A>G	X.37:g.140271160T>C	ENSP00000359557:p.His16Arg					LDOC1_ENST00000460721.1_5'UTR	p.H16R	NM_012317.2	NP_036449.1	O95751	LDOC1_HUMAN			1	150	-	Acute lymphoblastic leukemia(192;7.65e-05)		16					Q6IAR6	Missense_Mutation	SNP	ENST00000370526.2	37	c.47A>G	CCDS14672.1	.	.	.	.	.	.	.	.	.	.	.	14.97	2.695737	0.48202	.	.	ENSG00000182195	ENST00000370526	T	0.22945	1.93	3.61	3.61	0.41365	.	0.000000	0.44285	D	0.000464	T	0.17323	0.0416	L	0.36672	1.1	0.25776	N	0.984787	B	0.23540	0.087	B	0.20384	0.029	T	0.11941	-1.0567	10	0.25106	T	0.35	-14.3056	7.7835	0.29078	0.0:0.0:0.0:1.0	.	16	O95751	LDOC1_HUMAN	R	16	ENSP00000359557:H16R	ENSP00000359557:H16R	H	-	2	0	LDOC1	140098826	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	1.882000	0.39648	1.652000	0.50683	0.237000	0.17872	CAC		0.672	LDOC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058592.1	NM_012317		12	6	0	0	0	1	0	12	6				
CNTNAP5	129684	broad.mit.edu	37	2	125262112	125262112	+	Missense_Mutation	SNP	C	C	G			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr2:125262112C>G	ENST00000431078.1	+	8	1667	c.1303C>G	c.(1303-1305)Cgc>Ggc	p.R435G		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	435	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		AATGACAGAACGCGTAGCTGA	0.507																																						ENST00000431078.1																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176						c.(1303-1305)Cgc>Ggc		contactin associated protein-like 5							60.0	62.0	62.0					2																	125262112		1955	4159	6114	SO:0001583	missense	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125262112C>G	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.1303C>G	2.37:g.125262112C>G	ENSP00000399013:p.Arg435Gly						p.R435G	NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	8	1667	+			435			Laminin G-like 2.		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	c.1303C>G	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	C	0.232	-1.019979	0.02078	.	.	ENSG00000155052	ENST00000431078	T	0.74002	-0.8	5.54	3.64	0.41730	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	1.248430	0.05738	N	0.600904	T	0.55673	0.1935	N	0.11427	0.14	0.09310	N	1	B	0.19706	0.038	B	0.25140	0.058	T	0.48043	-0.9069	10	0.21540	T	0.41	.	4.929	0.13907	0.2313:0.5652:0.1258:0.0777	.	435	Q8WYK1	CNTP5_HUMAN	G	435	ENSP00000399013:R435G	ENSP00000399013:R435G	R	+	1	0	CNTNAP5	124978582	0.002000	0.14202	0.002000	0.10522	0.018000	0.09664	0.302000	0.19192	1.330000	0.45394	0.650000	0.86243	CGC		0.507	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			12	14	0	0	0	1	0	12	14				
ZMIZ1	57178	broad.mit.edu	37	10	81058892	81058892	+	Silent	SNP	G	G	A	rs199797525		TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr10:81058892G>A	ENST00000334512.5	+	16	2324	c.1752G>A	c.(1750-1752)gcG>gcA	p.A584A		NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	584					artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			ACAACCTGGCGGTCAGCAACC	0.667													T|||	1	0.000199681	0.0	0.0	5008	,	,		19305	0.001		0.0	False		,,,				2504	0.0					ENST00000334512.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30						c.(1750-1752)gcG>gcA		zinc finger, MIZ-type containing 1							84.0	66.0	72.0					10																	81058892		2203	4300	6503	SO:0001819	synonymous_variant	57178				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding	g.chr10:81058892G>A	AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"""Zinc fingers, MIZ-type"""	16493	protein-coding gene	gene with protein product		607159	"""retinoic acid induced 17"""	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.1752G>A	10.37:g.81058892G>A							p.A584A	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)		16	2324	+	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		584					Q5JSH9|Q7Z7E6	Silent	SNP	ENST00000334512.5	37	c.1752G>A	CCDS7357.1																																																																																				0.667	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048944.2	NM_020338		11	29	0	0	0	1	0	11	29				
ASTN1	460	broad.mit.edu	37	1	177133672	177133672	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr1:177133672G>C	ENST00000367654.3	-	1	352	c.141C>G	c.(139-141)ttC>ttG	p.F47L	ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_Missense_Mutation_p.F47L|ASTN1_ENST00000361833.2_Missense_Mutation_p.F47L|ASTN1_ENST00000424564.2_Missense_Mutation_p.F47L	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	47					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TCTCGCGCAGGAAGGGCAGTG	0.667																																						ENST00000367654.2																			0				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						c.(139-141)ttC>ttG		astrotactin 1							81.0	68.0	72.0					1																	177133672		2203	4300	6503	SO:0001583	missense	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:177133672G>C	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.141C>G	1.37:g.177133672G>C	ENSP00000356626:p.Phe47Leu					ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_Missense_Mutation_p.F47L|ASTN1_ENST00000424564.2_Missense_Mutation_p.F47L|ASTN1_ENST00000361833.2_Missense_Mutation_p.F47L	p.F47L			O14525	ASTN1_HUMAN			1	154	-			47					A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	37	c.141C>G		.	.	.	.	.	.	.	.	.	.	G	18.15	3.560354	0.65538	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.13420	2.59;3.0;3.0;2.59	2.94	2.94	0.34122	.	0.000000	0.64402	U	0.000004	T	0.22282	0.0537	L	0.47716	1.5	0.58432	D	0.999996	P;P;P	0.52577	0.877;0.877;0.954	D;D;D	0.63597	0.916;0.916;0.916	T	0.01977	-1.1236	10	0.23891	T	0.37	-21.5698	8.1497	0.31132	0.1178:0.0:0.8822:0.0	.	47;47;47	O14525;O14525-2;B1AJS1	ASTN1_HUMAN;.;.	L	47	ENSP00000356629:F47L;ENSP00000354536:F47L;ENSP00000356626:F47L;ENSP00000395041:F47L	ENSP00000354536:F47L	F	-	3	2	ASTN1	175400295	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.741000	0.47426	1.659000	0.50751	0.385000	0.25706	TTC		0.667	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		3	20	0	0	0	1	0	3	20				
TRBV30	28557	broad.mit.edu	37	7	142510484	142510484	+	RNA	SNP	G	G	T			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr7:142510484G>T	ENST00000417977.2	-	0	233									T cell receptor beta variable 30 (gene/pseudogene)																		TCCCTCCACAGTGCACTCCAG	0.572																																						ENST00000417977.2																			0																				37.0	39.0	39.0					7																	142510484		1971	4150	6121			28557							g.chr7:142510484G>T	L36092		7q34	2012-02-07	2008-09-12		ENSG00000237254	ENSG00000237254		"""T cell receptors / TRB locus"""	12214	other	T cell receptor gene			"""T cell receptor beta variable 30"""			8650574	Standard	NG_001333		Approved	TCRBV20S1A1N2, TCRBV30S1			OTTHUMG00000158907		7.37:g.142510484G>T														0	233	-									RNA	SNP	ENST00000417977.2	37																																																																																						0.572	TRBV30-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000352519.1	NG_001333		3	7	1	0	1	1	1	3	7				
HIST1H1E	3008	broad.mit.edu	37	6	26157199	26157199	+	Missense_Mutation	SNP	T	T	C			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr6:26157199T>C	ENST00000304218.3	+	1	641	c.581T>C	c.(580-582)gTt>gCt	p.V194A	HIST1H2BD_ENST00000377777.4_5'Flank|HIST1H2BD_ENST00000289316.2_5'Flank	NM_005321.2	NP_005312.1	P10412	H14_HUMAN	histone cluster 1, H1e	194					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						GCCAAAGCAGTTAAACCCAAG	0.552																																						ENST00000304218.3																			0				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						c.(580-582)gTt>gCt		histone cluster 1, H1e							30.0	32.0	31.0					6																	26157199		2201	4299	6500	SO:0001583	missense	3008				nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26157199T>C	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.581T>C	6.37:g.26157199T>C	ENSP00000307705:p.Val194Ala						p.V194A	NM_005321.2	NP_005312.1	P10412	H14_HUMAN			1	641	+			194					Q4VB25	Missense_Mutation	SNP	ENST00000304218.3	37	c.581T>C	CCDS4586.1	.	.	.	.	.	.	.	.	.	.	.	8.053	0.766344	0.15983	.	.	ENSG00000168298	ENST00000304218	T	0.15952	2.38	5.48	4.31	0.51392	.	0.234861	0.29015	N	0.013402	T	0.02267	0.0070	N	0.16233	0.39	0.32824	D	0.503182	B	0.02656	0.0	B	0.01281	0.0	T	0.41805	-0.9488	10	0.02654	T	1	-9.7654	8.2876	0.31939	0.0:0.1535:0.0:0.8465	.	194	P10412	H14_HUMAN	A	194	ENSP00000307705:V194A	ENSP00000307705:V194A	V	+	2	0	HIST1H1E	26265178	1.000000	0.71417	0.764000	0.31436	0.968000	0.65278	0.998000	0.29744	1.001000	0.39076	0.533000	0.62120	GTT		0.552	HIST1H1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040084.1	NM_005321		13	23	0	0	0	1	0	13	23				
PUM1	9698	broad.mit.edu	37	1	31478756	31478774	+	Frame_Shift_Del	DEL	CCATGCTAACGCCTAGTCC	CCATGCTAACGCCTAGTCC	-			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr1:31478756_31478774delCCATGCTAACGCCTAGTCC	ENST00000257075.5	-	5	739_757	c.646_664delGGACTAGGCGTTAGCATGG	c.(646-666)ggactaggcgttagcatggtgfs	p.GLGVSMV216fs	PUM1_ENST00000423018.2_Intron|PUM1_ENST00000373747.3_Frame_Shift_Del_p.GLGVSMV216fs|PUM1_ENST00000373741.4_Frame_Shift_Del_p.GLGVSMV252fs|PUM1_ENST00000440538.2_Frame_Shift_Del_p.GLGVSMV216fs|PUM1_ENST00000424085.2_Intron|PUM1_ENST00000373742.2_Intron|PUM1_ENST00000426105.2_Frame_Shift_Del_p.GLGVSMV216fs	NM_014676.2	NP_055491.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	216				G -> E (in Ref. 4; BAD96325). {ECO:0000305}.	membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		ACATACTCCACCATGCTAACGCCTAGTCCCCCACTCTCC	0.498																																						ENST00000373747.3																			0				breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(646-666)tgfs		pumilio RNA-binding family member 1																																				SO:0001589	frameshift_variant	9698				cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding	g.chr1:31478756_31478774delCCATGCTAACGCCTAGTCC	AF315592	CCDS338.1, CCDS44099.1	1p35.2	2013-09-02	2013-09-02		ENSG00000134644	ENSG00000134644			14957	protein-coding gene	gene with protein product		607204	"""pumilio (Drosophila) homolog 1"", ""pumilio homolog 1 (Drosophila)"""				Standard	NM_001020658		Approved	PUMH1, KIAA0099	uc001bsh.1	Q14671	OTTHUMG00000003795	ENST00000257075.5:c.646_664delGGACTAGGCGTTAGCATGG	1.37:g.31478756_31478774delCCATGCTAACGCCTAGTCC	ENSP00000257075:p.Gly216fs					PUM1_ENST00000257075.5_Frame_Shift_Del_p.GLGVSMV216fs|PUM1_ENST00000426105.2_Frame_Shift_Del_p.GLGVSMV216fs|PUM1_ENST00000373742.2_Intron|PUM1_ENST00000424085.2_Intron|PUM1_ENST00000440538.2_Frame_Shift_Del_p.GLGVSMV216fs|PUM1_ENST00000423018.2_Intron|PUM1_ENST00000373741.4_Frame_Shift_Del_p.GLGVSMV252fs	p.GLGVSMV216fs	NM_001020658.1	NP_001018494.1	Q14671	PUM1_HUMAN		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)	5	745_763	-		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)	216					A8K6W4|B4DG92|D3DPN3|E9PCJ0|Q53HH5|Q5VXY7|Q9HAN1	Frame_Shift_Del	DEL	ENST00000257075.5	37	c.646_664delGGACTAGGCGTTAGCATGG	CCDS338.1																																																																																				0.498	PUM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000010671.1			10	60						10	60	---	---	---	---
NOTCH2	4853	broad.mit.edu	37	1	120464983	120464983	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr1:120464983delC	ENST00000256646.2	-	28	5308	c.5089delG	c.(5089-5091)gtafs	p.V1697fs	NOTCH2_ENST00000493703.1_5'Flank	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1697					apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)	p.V1697fs*9(1)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCCATGATTACCCCCAGCAGA	0.498			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																													ENST00000256646.2				Dom	yes		1	1p13-p11	4853	"""N, F, Mis"""	Notch homolog 2			L			"""marginal zone lymphoma, DLBCL"""		1	Insertion - Frameshift(1)	p.V1697fs*9(1)	large_intestine(1)	breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158						c.(5089-5091)tafs		notch 2							65.0	63.0	64.0					1																	120464983		2203	4300	6503	SO:0001589	frameshift_variant	4853	Alagille Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	g.chr1:120464983delC	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.5089delG	1.37:g.120464983delC	ENSP00000256646:p.Val1697fs						p.V1697fs	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	28	5308	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	1697					Q5T3X7|Q99734|Q9H240	Frame_Shift_Del	DEL	ENST00000256646.2	37	c.5089delG	CCDS908.1																																																																																				0.498	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		12	31						12	31	---	---	---	---
GPR110	266977	broad.mit.edu	37	6	46993670	46993686	+	Frame_Shift_Del	DEL	CTCAAATCTCTTTTCTC	CTCAAATCTCTTTTCTC	-	rs374642613		TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr6:46993670_46993686delCTCAAATCTCTTTTCTC	ENST00000371253.2	-	4	396_412	c.181_197delGAGAAAAGAGATTTGAG	c.(181-198)gagaaaagagatttgagafs	p.EKRDLR61fs	GPR110_ENST00000449332.2_5'UTR|GPR110_ENST00000371243.2_Frame_Shift_Del_p.EKRDLR61fs	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	61					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						CAGAAAATTTCTCAAATCTCTTTTCTCCTTGGAATCT	0.433																																						ENST00000371253.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						c.(181-198)afs		G protein-coupled receptor 110																																				SO:0001589	frameshift_variant	266977				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:46993670_46993686delCTCAAATCTCTTTTCTC	AB083618	CCDS4920.1, CCDS34471.1	6p21.1	2014-08-08			ENSG00000153292	ENSG00000153292		"""-"", ""GPCR / Class B : Orphans"""	18990	protein-coding gene	gene with protein product						12435584, 14623098	Standard	XM_005249006		Approved	hGPCR36, PGR19	uc003oyt.3	Q5T601	OTTHUMG00000014795	ENST00000371253.2:c.181_197delGAGAAAAGAGATTTGAG	6.37:g.46993670_46993686delCTCAAATCTCTTTTCTC	ENSP00000360299:p.Glu61fs					GPR110_ENST00000449332.2_5'UTR|GPR110_ENST00000371243.2_Frame_Shift_Del_p.EKRDLR61fs	p.EKRDLR61fs	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN			4	396_412	-			61					Q5KU15|Q5T5Z9|Q5T600|Q86SM1|Q8IXE3|Q8IZF8|Q96DQ1|Q9H615	Frame_Shift_Del	DEL	ENST00000371253.2	37	c.181_197delGAGAAAAGAGATTTGAG	CCDS34471.1																																																																																				0.433	GPR110-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040810.2	NM_153840		17	37						17	37	---	---	---	---
BHLHE22	27319	broad.mit.edu	37	8	65494021	65494023	+	In_Frame_Del	DEL	GCA	GCA	-	rs62519837		TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr8:65494021_65494023delGCA	ENST00000321870.1	+	1	1208_1210	c.674_676delGCA	c.(673-678)ggcagc>ggc	p.S234del	RP11-21C4.1_ENST00000517909.1_RNA	NM_152414.4	NP_689627.1	Q8NFJ8	BHE22_HUMAN	basic helix-loop-helix family, member e22	234	Ser-rich.				anterior commissure morphogenesis (GO:0021960)|cerebral cortex regionalization (GO:0021796)|corpus callosum morphogenesis (GO:0021540)|corticospinal tract morphogenesis (GO:0021957)|negative regulation of transcription, DNA-templated (GO:0045892)|retinal bipolar neuron differentiation (GO:0060040)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.S234delS(1)|p.S226G(1)		NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	5						ggcagcggcggcagcagcagcag	0.709																																					Colon(113;104 1586 2865 9855 18065)	ENST00000321870.1																			2	Substitution - Missense(1)|Deletion - In frame(1)	p.S234delS(1)|p.S226G(1)	central_nervous_system(1)|skin(1)	NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	5						c.(673-678)ggc>g		basic helix-loop-helix family, member e22																																				SO:0001651	inframe_deletion	27319				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr8:65494021_65494023delGCA	U80755	CCDS6179.1	8q12.1	2009-01-12	2009-01-12	2009-01-12		ENSG00000180828		"""Basic helix-loop-helix proteins"""	11963	protein-coding gene	gene with protein product		613483	"""trinucleotide repeat containing 20"", ""basic helix-loop-helix domain containing, class B, 5"""	TNRC20, BHLHB5		9225980, 12213201, 18557763	Standard	NM_152414		Approved	CAGL85, Beta3, bHLHe22	uc003xvi.3	Q8NFJ8		ENST00000321870.1:c.674_676delGCA	8.37:g.65494030_65494032delGCA	ENSP00000318799:p.Ser234del					RP11-21C4.1_ENST00000517909.1_RNA	p.GS225del	NM_152414.4	NP_689627.1	Q8NFJ8	BHE22_HUMAN			1	1208_1210	+			225			Gly-rich.|Ser-rich.			In_Frame_Del	DEL	ENST00000321870.1	37	c.674_676delGCA	CCDS6179.1																																																																																				0.709	BHLHE22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378549.1	NM_152414		3	3						3	3	---	---	---	---
ETV6	2120	broad.mit.edu	37	12	11992150	11992153	+	Frame_Shift_Del	DEL	GCCA	GCCA	-			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr12:11992150_11992153delGCCA	ENST00000396373.4	+	3	514_517	c.240_243delGCCA	c.(238-243)aggccafs	p.RP80fs		NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN	ets variant 6	80	PNT. {ECO:0000255|PROSITE- ProRule:PRU00762}.				cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				TTTCTTTAAGGCCAATTGACAGCA	0.49			T	"""NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"""	"""congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"""																																	ENST00000396373.4				Dom	yes		12	12p13	2120	T	ets variant gene 6 (TEL oncogene)			"""L, E, M"""	"""NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"""		"""congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"""	ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(238-243)agfs		ets variant 6																																				SO:0001589	frameshift_variant	2120					cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:11992150_11992153delGCCA	BC043399	CCDS8643.1	12p13	2014-09-17	2008-09-12		ENSG00000139083	ENSG00000139083			3495	protein-coding gene	gene with protein product	"""TEL oncogene"""	600618	"""ets variant gene 6 (TEL oncogene)"""			7731705	Standard	NM_001987		Approved	TEL	uc001qzz.3	P41212	OTTHUMG00000168538	ENST00000396373.4:c.240_243delGCCA	12.37:g.11992150_11992153delGCCA	ENSP00000379658:p.Arg80fs						p.RP80fs	NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN			3	514_517	+		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)	80			PNT.		A3QVP6|A8K076|Q9UMF6|Q9UMF7|Q9UMG0	Frame_Shift_Del	DEL	ENST00000396373.4	37	c.240_243delGCCA	CCDS8643.1																																																																																				0.490	ETV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400130.2	NM_001987		14	42						14	42	---	---	---	---
RP11-252A24.2	0	broad.mit.edu	37	16	74394379	74394380	+	RNA	INS	-	-	A	rs142790741	byFrequency	TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr16:74394379_74394380insA	ENST00000429810.2	-	0	435																											TAGTCATCCTTAAACAAAATTC	0.347													|||unknown(NO_COVERAGE)	1085	0.216653	0.2474	0.1888	5008	,	,		27432	0.1379		0.2604	False		,,,				2504	0.2311					ENST00000429810.2																			0																																																			0							g.chr16:74394379_74394380insA																													16.37:g.74394382_74394382dupA														0	435	-									RNA	INS	ENST00000429810.2	37																																																																																						0.347	RP11-252A24.2-003	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000434683.1			2	4						2	4	---	---	---	---
LOC100287072	100287072	broad.mit.edu	37	17	20623668	20623668	+	RNA	DEL	T	T	-	rs539058062	byFrequency	TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr17:20623668delT	ENST00000578210.1	+	0	150					NR_073509.1																						gcccggctaattttttttttt	0.572													|||unknown(NO_COVERAGE)	1336	0.266773	0.2292	0.2767	5008	,	,		11315	0.2778		0.2584	False		,,,				2504	0.3078					ENST00000578210.1																			0																																																			100287072							g.chr17:20623668delT																													17.37:g.20623668delT								NR_073509.1						0	150	+									RNA	DEL	ENST00000578210.1	37																																																																																						0.572	AC126365.1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000443937.1			2	4						2	4	---	---	---	---
HELZ	9931	broad.mit.edu	37	17	65103618	65103620	+	In_Frame_Del	DEL	ATC	ATC	-			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr17:65103618_65103620delATC	ENST00000358691.5	-	31	5072_5074	c.4906_4908delGAT	c.(4906-4908)gatdel	p.D1636del	HELZ_ENST00000580168.1_In_Frame_Del_p.D1637del	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	1636						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					CTCTGCTGTTATCATTAAAGTTA	0.473																																						ENST00000358691.5																			0				NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(4906-4908)del		helicase with zinc finger																																				SO:0001651	inframe_deletion	9931							g.chr17:65103618_65103620delATC	D29677	CCDS42374.1	17q24.2	2013-01-18			ENSG00000198265	ENSG00000198265		"""Zinc fingers, CCCH-type domain containing"""	16878	protein-coding gene	gene with protein product	"""down-regulated in human cancers"""	606699				10471385, 12691822	Standard	NM_014877		Approved	KIAA0054, HUMORF5, DHRC	uc002jfx.4	P42694	OTTHUMG00000179555	ENST00000358691.5:c.4906_4908delGAT	17.37:g.65103618_65103620delATC	ENSP00000351524:p.Asp1636del					HELZ_ENST00000580168.1_In_Frame_Del_p.D1637del	p.D1636del	NM_014877.3	NP_055692.2					31	5072_5074	-	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)							I6L9H4	In_Frame_Del	DEL	ENST00000358691.5	37	c.4906_4908delGAT	CCDS42374.1																																																																																				0.473	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000447068.1	NM_014877		21	189						21	189	---	---	---	---
NWD1	284434	broad.mit.edu	37	19	16923646	16923655	+	Frame_Shift_Del	DEL	TGGAGTGTGC	TGGAGTGTGC	-	rs536086726		TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr19:16923646_16923655delTGGAGTGTGC	ENST00000552788.1	+	17	4378_4387	c.4378_4387delTGGAGTGTGC	c.(4378-4389)tggagtgtgctgfs	p.WSVL1460fs	NWD1_ENST00000523826.1_Frame_Shift_Del_p.WSVL1254fs|NWD1_ENST00000339803.6_Frame_Shift_Del_p.WSVL1325fs|NWD1_ENST00000379808.3_Intron|NWD1_ENST00000549814.1_Frame_Shift_Del_p.WSVL1418fs|NWD1_ENST00000524140.2_Intron			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1460							ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TATACTTGTTTGGAGTGTGCTGGATGGTGA	0.495																																						ENST00000552788.1																			0				NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(4378-4389)tgfs		NACHT and WD repeat domain containing 1																																				SO:0001589	frameshift_variant	284434						ATP binding	g.chr19:16923646_16923655delTGGAGTGTGC	BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"""WD repeat domain containing"""	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.4378_4387delTGGAGTGTGC	19.37:g.16923646_16923655delTGGAGTGTGC	ENSP00000447224:p.Trp1460fs					NWD1_ENST00000524140.2_Intron|NWD1_ENST00000549814.1_Frame_Shift_Del_p.WSVL1418fs|NWD1_ENST00000339803.6_Frame_Shift_Del_p.WSVL1325fs|NWD1_ENST00000523826.1_Frame_Shift_Del_p.WSVL1254fs|NWD1_ENST00000379808.3_Intron	p.WSVL1460fs			Q149M9	NWD1_HUMAN			17	4378_4387	+			1460					C9J021|Q68CT3	Frame_Shift_Del	DEL	ENST00000552788.1	37	c.4378_4387delTGGAGTGTGC																																																																																					0.495	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	NM_001007525		17	101						17	101	---	---	---	---
PTPN1	5770	broad.mit.edu	37	20	49195168	49195169	+	Splice_Site	INS	-	-	A			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr20:49195168_49195169insA	ENST00000371621.3	+	6	876		c.e6+2		RP4-530I15.9_ENST00000431019.1_RNA|PTPN1_ENST00000541713.1_Splice_Site	NM_001278618.1|NM_002827.2	NP_001265547.1|NP_002818.1	P18031	PTN1_HUMAN	protein tyrosine phosphatase, non-receptor type 1						actin cytoskeleton reorganization (GO:0031532)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|endoplasmic reticulum unfolded protein response (GO:0030968)|insulin receptor signaling pathway (GO:0008286)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|peptidyl-tyrosine dephosphorylation (GO:0035335)|peptidyl-tyrosine dephosphorylation involved in inactivation of protein kinase activity (GO:1990264)|platelet activation (GO:0030168)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|regulation of endocytosis (GO:0030100)|regulation of hepatocyte growth factor receptor signaling pathway (GO:1902202)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of signal transduction (GO:0009966)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|sorting endosome (GO:0097443)	enzyme binding (GO:0019899)|ephrin receptor binding (GO:0046875)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(2)	16		Lung NSC(126;0.163)			Tiludronate(DB01133)	CTCTTGCTGGTAAGGAGGCCCT	0.584																																						ENST00000371621.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(2)	16						c.e6+2		protein tyrosine phosphatase, non-receptor type 1	Clodronate(DB00720)|Tiludronate(DB01133)																																			SO:0001630	splice_region_variant	5770				blood coagulation|interferon-gamma-mediated signaling pathway|negative regulation of insulin receptor signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol|endoplasmic reticulum membrane	protein tyrosine phosphatase activity|zinc ion binding	g.chr20:49195168_49195169insA		CCDS13430.1, CCDS63309.1	20q13.1-q13.2	2011-06-09			ENSG00000196396	ENSG00000196396		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9642	protein-coding gene	gene with protein product		176885		PTP1B		2164224	Standard	NM_002827		Approved		uc002xvl.3	P18031	OTTHUMG00000032729	ENST00000371621.3:c.702+2->A	20.37:g.49195170_49195170dupA						PTPN1_ENST00000541713.1_Splice_Site		NM_001278618.1|NM_002827.2	NP_001265547.1|NP_002818.1	P18031	PTN1_HUMAN			6	876	+		Lung NSC(126;0.163)						Q5TGD8|Q9BQV9|Q9NQQ4	Splice_Site	INS	ENST00000371621.3	37		CCDS13430.1																																																																																				0.584	PTPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079694.2		Intron	16	32						16	32	---	---	---	---
FAM9A	171482	broad.mit.edu	37	X	8763181	8763183	+	In_Frame_Del	DEL	CTC	CTC	-	rs201085560		TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chrX:8763181_8763183delCTC	ENST00000543214.1	-	7	902_904	c.767_769delGAG	c.(766-771)ggagaa>gaa	p.G256del	FAM9A_ENST00000381003.3_In_Frame_Del_p.G256del	NM_001171186.1	NP_001164657.1	Q8IZU1	FAM9A_HUMAN	family with sequence similarity 9, member A	256	Glu-rich.|Poly-Gly.					nucleus (GO:0005634)				endometrium(11)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	18		Hepatocellular(5;0.219)				tcttctccttctcctcctcctcc	0.448														24	0.00635762	0.0038	0.0	3775	,	,		17930	0.002		0.004	False		,,,				2504	0.0133					ENST00000543214.1																			0				endometrium(11)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	18						c.(766-771)gaa>g		family with sequence similarity 9, member A			,	30,3659		0,24,6,1554,527					,	0.6	0.0			47	107,6343		1,68,37,2283,1709	no	coding,coding	FAM9A	NM_174951.3,NM_001171186.1	,	1,92,43,3837,2236	A1A1,A1R,A1,RR,R		1.6589,0.8132,1.3512	,	,		137,10002				SO:0001651	inframe_deletion	171482					nucleolus		g.chrX:8763181_8763183delCTC		CCDS14131.1	Xp22.32	2012-11-29			ENSG00000183304	ENSG00000183304			18403	protein-coding gene	gene with protein product	"""testis expressed 39A"""	300477					Standard	NM_174951		Approved	TEX39A	uc004csg.3	Q8IZU1	OTTHUMG00000021110	ENST00000543214.1:c.767_769delGAG	X.37:g.8763190_8763192delCTC	ENSP00000440163:p.Gly256del					FAM9A_ENST00000381003.3_In_Frame_Del_p.GE258del	p.GE258del	NM_001171186.1	NP_001164657.1	Q8IZU1	FAM9A_HUMAN			7	902_904	-		Hepatocellular(5;0.219)	258			Glu-rich.|Poly-Gly.		B7ZLH5|Q2M2D1	In_Frame_Del	DEL	ENST00000543214.1	37	c.767_769delGAG	CCDS14131.1																																																																																				0.448	FAM9A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055697.1	NM_174951		2	4						2	4	---	---	---	---
