#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
CNTN2	6900	broad.mit.edu	37	1	205030440	205030440	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr1:205030440C>G	ENST00000331830.4	+	8	1149	c.865C>G	c.(865-867)Ccc>Gcc	p.P289A	AL583832.1_ENST00000515887.1_RNA	NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	289	Ig-like C2-type 3.				adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|central nervous system myelination (GO:0022010)|cerebral cortex GABAergic interneuron migration (GO:0021853)|clustering of voltage-gated potassium channels (GO:0045163)|establishment of protein localization to juxtaparanode region of axon (GO:0071206)|learning (GO:0007612)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of adenosine receptor signaling pathway (GO:0060168)|positive regulation of protein processing (GO:0010954)|presynaptic membrane organization (GO:0097090)|receptor internalization (GO:0031623)|regulation of astrocyte differentiation (GO:0048710)|regulation of axon diameter (GO:0031133)|regulation of neuronal synaptic plasticity (GO:0048168)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|juxtaparanode region of axon (GO:0044224)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated potassium channel complex (GO:0008076)	carbohydrate binding (GO:0030246)|identical protein binding (GO:0042802)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CACAGCTGAGCCCACCCTGCA	0.647											OREG0014144	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Melanoma(183;2548 2817 37099 41192)	ENST00000331830.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54						c.(865-867)Ccc>Gcc		contactin 2 (axonal)							86.0	66.0	73.0					1																	205030440		2203	4300	6503	SO:0001583	missense	6900				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding	g.chr1:205030440C>G	X67734	CCDS1449.1	1q32.1	2013-02-11			ENSG00000184144	ENSG00000184144		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2172	protein-coding gene	gene with protein product		190197		TAX, AXT		8307567, 8586965	Standard	NM_005076		Approved	TAG-1, TAX1	uc001hbr.3	Q02246	OTTHUMG00000037105	ENST00000331830.4:c.865C>G	1.37:g.205030440C>G	ENSP00000330633:p.Pro289Ala		OREG0014144	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2149		p.P289A	NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)		8	1149	+	all_cancers(21;0.144)|Breast(84;0.0437)		289			Ig-like C2-type 3.		P78432|Q5T054	Missense_Mutation	SNP	ENST00000331830.4	37	c.865C>G	CCDS1449.1	.	.	.	.	.	.	.	.	.	.	C	8.166	0.790577	0.16258	.	.	ENSG00000184144	ENST00000331830	T	0.64260	-0.09	5.33	5.33	0.75918	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.52532	D	0.000061	T	0.37156	0.0993	N	0.01686	-0.76	0.58432	D	0.999997	B;B;B	0.17667	0.023;0.023;0.011	B;B;B	0.28991	0.097;0.097;0.049	T	0.42378	-0.9455	10	0.02654	T	1	.	18.6039	0.91259	0.0:1.0:0.0:0.0	.	289;289;180	A1L3A3;Q02246;Q68DA2	.;CNTN2_HUMAN;.	A	289	ENSP00000330633:P289A	ENSP00000330633:P289A	P	+	1	0	CNTN2	203297063	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	2.625000	0.46452	2.510000	0.84645	0.467000	0.42956	CCC		0.647	CNTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090080.3	NM_005076		4	61	0	0	0	1	0	4	61				
LAMA3	3909	broad.mit.edu	37	18	21437924	21437924	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr18:21437924A>G	ENST00000313654.9	+	33	4494	c.4253A>G	c.(4252-4254)gAc>gGc	p.D1418G	LAMA3_ENST00000399516.3_Missense_Mutation_p.D1418G	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1418	Domain III B.|Laminin EGF-like 12. {ECO:0000255|PROSITE-ProRule:PRU00460}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					GGAGTGTGTGACCCAGGGACC	0.552																																						ENST00000313654.9																			0				NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128						c.(4252-4254)gAc>gGc		laminin, alpha 3	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						110.0	110.0	110.0					18																	21437924		2043	4191	6234	SO:0001583	missense	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21437924A>G	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.4253A>G	18.37:g.21437924A>G	ENSP00000324532:p.Asp1418Gly					LAMA3_ENST00000399516.3_Missense_Mutation_p.D1418G	p.D1418G	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN			33	4494	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		1418			Domain III B.|Laminin EGF-like 12.		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	c.4253A>G	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	A	26.5	4.742422	0.89573	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000416669	T;T	0.57595	0.39;0.39	5.43	5.43	0.79202	EGF-like, laminin (3);	.	.	.	.	T	0.76652	0.4017	M	0.88031	2.925	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.72982	0.979;0.966	T	0.81788	-0.0772	9	0.72032	D	0.01	.	15.7756	0.78214	1.0:0.0:0.0:0.0	.	1418;1418	Q6VU67;Q16787	.;LAMA3_HUMAN	G	1418;1418;1416	ENSP00000324532:D1418G;ENSP00000382432:D1418G	ENSP00000324532:D1418G	D	+	2	0	LAMA3	19691922	1.000000	0.71417	0.904000	0.35570	0.955000	0.61496	8.672000	0.91181	2.188000	0.69820	0.459000	0.35465	GAC		0.552	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		4	111	0	0	0	1	0	4	111				
AGAP3	116988	broad.mit.edu	37	7	150840954	150840954	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr7:150840954C>T	ENST00000463381.1	+	16	2163	c.1667C>T	c.(1666-1668)gCg>gTg	p.A556V	AGAP3_ENST00000397238.2_Missense_Mutation_p.A887V	NM_001281300.1	NP_001268229.1	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	851	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cellular response to reactive oxygen species (GO:0034614)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein import into nucleus, translocation (GO:0000060)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						TGTGGCTTAGCGCCTACCCCC	0.647																																						ENST00000397238.2																			0				central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						c.(2659-2661)gCg>gTg		ArfGAP with GTPase domain, ankyrin repeat and PH domain 3							53.0	57.0	56.0					7																	150840954		2011	4178	6189	SO:0001583	missense	116988				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding	g.chr7:150840954C>T	AF413079	CCDS43681.1, CCDS55185.1, CCDS64802.1	7q36.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000133612	ENSG00000133612		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16923	protein-coding gene	gene with protein product			"""centaurin, gamma 3"""	CENTG3			Standard	NM_001042535		Approved		uc003wjg.1	Q96P47	OTTHUMG00000158724	ENST00000463381.1:c.1667C>T	7.37:g.150840954C>T	ENSP00000418016:p.Ala556Val					AGAP3_ENST00000463381.1_Missense_Mutation_p.A556V	p.A887V	NM_031946.4	NP_114152.3	Q96P47	AGAP3_HUMAN			18	2660	+			851					B3KNZ8|E9PAL8|Q59EN0|Q96RK3	Missense_Mutation	SNP	ENST00000463381.1	37	c.2660C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.011|0.011	-1.715114|-1.715114	0.00706|0.00706	.|.	.|.	ENSG00000133612|ENSG00000133612	ENST00000463381;ENST00000397232;ENST00000397238;ENST00000335355|ENST00000461065	T;T|.	0.69435|.	4.09;-0.4|.	4.44|4.44	3.55|3.55	0.40652|0.40652	.|.	0.487154|.	0.20811|.	N|.	0.085255|.	T|T	0.31263|0.31263	0.0791|0.0791	N|N	0.19112|0.19112	0.55|0.55	0.19775|0.19775	N|N	0.999959|0.999959	B;B;B;B|.	0.27140|.	0.169;0.103;0.001;0.001|.	B;B;B;B|.	0.20384|.	0.029;0.01;0.003;0.001|.	T|T	0.18272|0.18272	-1.0342|-1.0342	10|5	0.52906|.	T|.	0.07|.	.|.	11.6714|11.6714	0.51403|0.51403	0.0:0.8388:0.0:0.1612|0.0:0.8388:0.0:0.1612	.|.	851;386;887;556|.	Q96P47;E7ETI2;Q96P47-4;B3KNZ8|.	AGAP3_HUMAN;.;.;.|.	V|C	556;386;887;851|380	ENSP00000418016:A556V;ENSP00000380413:A887V|.	ENSP00000334157:A851V|.	A|R	+|+	2|1	0|0	AGAP3|AGAP3	150471887|150471887	0.000000|0.000000	0.05858|0.05858	0.028000|0.028000	0.17463|0.17463	0.532000|0.532000	0.34746|0.34746	0.108000|0.108000	0.15396|0.15396	0.562000|0.562000	0.29204|0.29204	-0.797000|-0.797000	0.03246|0.03246	GCG|CGC		0.647	AGAP3-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000351909.2	NM_031946		69	82	0	0	0	1	0	69	82				
BMS1P20	96610	broad.mit.edu	37	22	22663086	22663086	+	RNA	SNP	T	T	G	rs1054157|rs71318762	byFrequency	TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr22:22663086T>G	ENST00000426066.1	+	0	525					NR_027293.1				BMS1 pseudogene 20																		AGCTGCCACATAAGTTGTCCT	0.299													.|||	3161	0.63119	0.9652	0.4726	5008	,	,		9186	0.4077		0.5219	False		,,,				2504	0.635					ENST00000426066.1																			0																																																			0							g.chr22:22663086T>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22663086T>G								NR_027293.1						0	525	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.299	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			4	28	0	0	0	1	0	4	28				
SLITRK5	26050	broad.mit.edu	37	13	88329500	88329500	+	Silent	SNP	A	A	G			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr13:88329500A>G	ENST00000325089.6	+	2	2076	c.1857A>G	c.(1855-1857)gtA>gtG	p.V619V	SLITRK5_ENST00000400028.3_Silent_p.V378V	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	619					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					CAGATGTAGTAGTTTCCACGC	0.592																																						ENST00000325089.6																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81						c.(1855-1857)gtA>gtG		SLIT and NTRK-like family, member 5							136.0	128.0	131.0					13																	88329500		2203	4300	6503	SO:0001819	synonymous_variant	26050					integral to membrane		g.chr13:88329500A>G	AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"""leucine rich repeat containing 11"""	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.1857A>G	13.37:g.88329500A>G						SLITRK5_ENST00000400028.3_Silent_p.V378V	p.V619V	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN			2	2076	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		619					B3KNB8|B4DSH5|Q5VT81	Silent	SNP	ENST00000325089.6	37	c.1857A>G	CCDS9465.1																																																																																				0.592	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			18	202	0	0	0	1	0	18	202				
ROBO2	6092	broad.mit.edu	37	3	77595545	77595545	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr3:77595545G>C	ENST00000461745.1	+	7	1891	c.991G>C	c.(991-993)Gtg>Ctg	p.V331L	ROBO2_ENST00000487694.3_Missense_Mutation_p.V347L|ROBO2_ENST00000332191.8_Missense_Mutation_p.V331L	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	331	Ig-like C2-type 4.				apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		AGGTCGAACAGTGACATTTCC	0.433																																						ENST00000461745.1																			0				NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117						c.(991-993)Gtg>Ctg		roundabout, axon guidance receptor, homolog 2 (Drosophila)							202.0	194.0	196.0					3																	77595545		1852	4101	5953	SO:0001583	missense	6092				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	g.chr3:77595545G>C	AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10250	protein-coding gene	gene with protein product		602431	"""roundabout (axon guidance receptor, Drosophila) homolog 2"""			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.991G>C	3.37:g.77595545G>C	ENSP00000417164:p.Val331Leu					ROBO2_ENST00000332191.8_Missense_Mutation_p.V331L|ROBO2_ENST00000487694.3_Missense_Mutation_p.V347L	p.V331L	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN		Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)	7	1891	+			331			Ig-like C2-type 4.		O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	ENST00000461745.1	37	c.991G>C	CCDS43109.1	.	.	.	.	.	.	.	.	.	.	G	18.57	3.652569	0.67472	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191;ENST00000398467	T;T;T	0.76839	-1.05;-1.05;-1.05	5.66	4.78	0.61160	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.41294	D	0.000906	T	0.79930	0.4531	L	0.49513	1.565	0.41430	D	0.987859	P;P;P	0.40230	0.576;0.521;0.708	P;B;P	0.49477	0.457;0.328;0.612	D	0.84993	0.0895	9	0.62326	D	0.03	.	14.0202	0.64550	0.0723:0.0:0.9277:0.0	.	347;331;331	Q19AB5;F8W703;Q9HCK4	.;.;ROBO2_HUMAN	L	347;347;351;331;331;52	ENSP00000417335:V347L;ENSP00000417164:V331L;ENSP00000327536:V331L	ENSP00000327536:V331L	V	+	1	0	ROBO2	77678235	1.000000	0.71417	0.998000	0.56505	0.264000	0.26372	8.022000	0.88759	2.672000	0.90937	0.591000	0.81541	GTG		0.433	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246		4	269	0	0	0	1	0	4	269				
MYH11	4629	broad.mit.edu	37	16	15820745	15820745	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr16:15820745C>T	ENST00000300036.5	-	28	3927	c.3818G>A	c.(3817-3819)cGg>cAg	p.R1273Q	AF001548.5_ENST00000574212.1_RNA|MYH11_ENST00000452625.2_Missense_Mutation_p.R1280Q|MYH11_ENST00000396324.3_Missense_Mutation_p.R1280Q|MYH11_ENST00000576790.2_Missense_Mutation_p.R1273Q	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1273					axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CGCCCGGGCCCGCTCCCCATC	0.647			T	CBFB	AML																																	ENST00000338282.6				Dom	yes		16	16p13.13-p13.12	4629	T	"""myosin, heavy polypeptide 11, smooth muscle"""			L	CBFB		AML		0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						c.(3817-3819)cGg>cAg		myosin, heavy chain 11, smooth muscle							75.0	82.0	80.0					16																	15820745		2197	4300	6497	SO:0001583	missense	4629				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr16:15820745C>T	X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"""Myosins / Myosin superfamily : Class II"""	7569	protein-coding gene	gene with protein product		160745	"""myosin, heavy polypeptide 11, smooth muscle"""			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.3818G>A	16.37:g.15820745C>T	ENSP00000300036:p.Arg1273Gln					AF001548.5_ENST00000574212.1_RNA|MYH11_ENST00000452625.2_Missense_Mutation_p.R1280Q|MYH11_ENST00000396324.3_Missense_Mutation_p.R1280Q|MYH11_ENST00000576790.1_Missense_Mutation_p.R1273Q|MYH11_ENST00000300036.5_Missense_Mutation_p.R1273Q	p.R1273Q	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN			28	3924	-			1273					D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP	ENST00000300036.5	37	c.3818G>A	CCDS10565.1	.	.	.	.	.	.	.	.	.	.	C	18.08	3.544025	0.65198	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75	4.68	3.72	0.42706	Myosin tail (1);	0.313361	0.28895	N	0.013785	D	0.90031	0.6887	M	0.82923	2.615	0.47094	D	0.999314	D;D;D;D;D	0.69078	0.984;0.997;0.997;0.997;0.997	P;D;D;D;D	0.66351	0.794;0.943;0.943;0.943;0.916	D	0.90465	0.4449	10	0.59425	D	0.04	.	12.2322	0.54495	0.0:0.917:0.0:0.083	.	1280;1273;1280;1273;1280	B1PS43;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;MYH11_HUMAN;.;.;.	Q	1273;1273;1280;1280;1280	ENSP00000300036:R1273Q;ENSP00000345136:R1273Q;ENSP00000379616:R1280Q;ENSP00000407821:R1280Q	ENSP00000300036:R1273Q	R	-	2	0	MYH11	15728246	0.991000	0.36638	0.933000	0.37362	0.451000	0.32288	2.725000	0.47294	1.099000	0.41499	0.655000	0.94253	CGG		0.647	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113		87	105	0	0	0	1	0	87	105				
PDZRN3	23024	broad.mit.edu	37	3	73433161	73433161	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr3:73433161G>C	ENST00000263666.4	-	10	2670	c.2556C>G	c.(2554-2556)agC>agG	p.S852R	PDZRN3_ENST00000466780.1_Missense_Mutation_p.S509R|PDZRN3_ENST00000535920.1_Missense_Mutation_p.S574R|PDZRN3_ENST00000466348.1_5'Flank|PDZRN3_ENST00000462146.2_Missense_Mutation_p.S509R|PDZRN3_ENST00000479530.1_Missense_Mutation_p.S569R	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	852					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)		CCAGCTTCTGGCTGGGCGTGG	0.662																																						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.(2554-2556)agC>agG		PDZ domain containing ring finger 3							43.0	48.0	47.0					3																	73433161		2202	4300	6502	SO:0001583	missense	23024						ubiquitin-protein ligase activity|zinc ion binding	g.chr3:73433161G>C	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.2556C>G	3.37:g.73433161G>C	ENSP00000263666:p.Ser852Arg					PDZRN3_ENST00000535920.1_Missense_Mutation_p.S574R|PDZRN3_ENST00000466780.1_Missense_Mutation_p.S509R|PDZRN3_ENST00000462146.2_Missense_Mutation_p.S509R|PDZRN3_ENST00000479530.1_Missense_Mutation_p.S569R	p.S852R	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)	10	2670	-		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)	852					A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Missense_Mutation	SNP	ENST00000263666.4	37	c.2556C>G	CCDS33789.1	.	.	.	.	.	.	.	.	.	.	G	0.024	-1.393643	0.01175	.	.	ENSG00000121440	ENST00000263666;ENST00000535920;ENST00000462146;ENST00000466780;ENST00000479530	T;T;T;T;T	0.09255	3.0;3.7;3.58;3.58;3.7	4.83	2.92	0.33932	.	1.958330	0.01884	N	0.038032	T	0.08891	0.0220	L	0.29908	0.895	0.09310	N	1	B;B;B;B	0.20671	0.005;0.047;0.014;0.013	B;B;B;B	0.19148	0.009;0.024;0.011;0.015	T	0.34453	-0.9828	10	0.15066	T	0.55	.	4.5543	0.12130	0.289:0.1706:0.5404:0.0	.	574;569;569;852	F5H8I9;B7ZAG0;B7Z5X9;Q9UPQ7	.;.;.;PZRN3_HUMAN	R	852;574;509;509;569	ENSP00000263666:S852R;ENSP00000442026:S574R;ENSP00000418168:S509R;ENSP00000418484:S509R;ENSP00000418624:S569R	ENSP00000263666:S852R	S	-	3	2	PDZRN3	73515851	0.000000	0.05858	0.008000	0.14137	0.489000	0.33432	0.191000	0.17076	0.937000	0.37394	0.655000	0.94253	AGC		0.662	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	XM_041363		5	141	0	0	0	1	0	5	141				
OR5T3	390154	broad.mit.edu	37	11	56020647	56020647	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr11:56020647C>A	ENST00000303059.3	+	1	972	c.972C>A	c.(970-972)aaC>aaA	p.N324K		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	324						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					GTTTGAGGAACAAAGAAGTAA	0.323																																						ENST00000303059.3																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39						c.(970-972)aaC>aaA		olfactory receptor, family 5, subfamily T, member 3							47.0	45.0	46.0					11																	56020647		2201	4293	6494	SO:0001583	missense	390154				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56020647C>A	AB065837	CCDS31524.1	11q11	2012-08-09			ENSG00000172489	ENSG00000172489		"""GPCR / Class A : Olfactory receptors"""	15297	protein-coding gene	gene with protein product							Standard	NM_001004747		Approved	OR5T3Q	uc010rjd.2	Q8NGG3	OTTHUMG00000166852	ENST00000303059.3:c.972C>A	11.37:g.56020647C>A	ENSP00000305403:p.Asn324Lys						p.N324K	NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN			1	972	+	Esophageal squamous(21;0.00448)		324					Q6IFC7	Missense_Mutation	SNP	ENST00000303059.3	37	c.972C>A	CCDS31524.1	.	.	.	.	.	.	.	.	.	.	C	8.123	0.781449	0.16120	.	.	ENSG00000172489	ENST00000303059	T	0.50001	0.76	4.32	1.37	0.22104	.	0.000000	0.51477	D	0.000092	T	0.51702	0.1690	H	0.95151	3.63	0.22933	N	0.998547	B	0.34290	0.447	B	0.26094	0.066	T	0.56335	-0.7996	10	0.87932	D	0	.	6.0491	0.19775	0.1426:0.6319:0.0:0.2255	.	324	Q8NGG3	OR5T3_HUMAN	K	324	ENSP00000305403:N324K	ENSP00000305403:N324K	N	+	3	2	OR5T3	55777223	0.722000	0.28017	1.000000	0.80357	0.175000	0.22909	-0.095000	0.11077	0.551000	0.29008	0.643000	0.83706	AAC		0.323	OR5T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391599.1	NM_001004747		19	31	1	0	1.67942e-08	1	1.72193e-08	19	31				
ARMC9	80210	broad.mit.edu	37	2	232079592	232079592	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr2:232079592G>T	ENST00000349938.4	+	4	420	c.226G>T	c.(226-228)Gat>Tat	p.D76Y	ARMC9_ENST00000483477.1_3'UTR	NM_001271466.1|NM_025139.4	NP_001258395.1|NP_079415	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	76						extracellular vesicular exosome (GO:0070062)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		GGTGTTCTTCGATCTGTGGGA	0.453																																						ENST00000349938.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(226-228)Gat>Tat		armadillo repeat containing 9							155.0	138.0	144.0					2																	232079592		2203	4300	6503	SO:0001583	missense	80210						binding	g.chr2:232079592G>T	BC004514	CCDS2484.1, CCDS74666.1	2q37.1	2013-02-14			ENSG00000135931	ENSG00000135931		"""Armadillo repeat containing"""	20730	protein-coding gene	gene with protein product						11347906	Standard	NM_025139		Approved	FLJ12584, KIAA1868, ARM, KU-MEL-1	uc031rrs.1	Q7Z3E5	OTTHUMG00000133229	ENST00000349938.4:c.226G>T	2.37:g.232079592G>T	ENSP00000258417:p.Asp76Tyr					ARMC9_ENST00000483477.1_3'UTR	p.D76Y	NM_001271466.1|NM_025139.3	NP_001258395.1|NP_079415.3	Q7Z3E5	ARMC9_HUMAN		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)	4	420	+		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)	76					Q53TI3|Q6P162|Q7L594|Q86WG2|Q96JF9|Q9H9R8	Missense_Mutation	SNP	ENST00000349938.4	37	c.226G>T	CCDS2484.1	.	.	.	.	.	.	.	.	.	.	G	11.77	1.737813	0.30774	.	.	ENSG00000135931	ENST00000349938;ENST00000359743;ENST00000440107	T;T	0.44083	2.25;0.93	5.81	-6.69	0.01772	.	1.588750	0.03448	N	0.210316	T	0.27384	0.0672	N	0.22421	0.69	0.09310	N	1	P	0.40875	0.731	B	0.36922	0.236	T	0.43310	-0.9399	10	0.59425	D	0.04	-3.0E-4	10.4709	0.44635	0.2392:0.3288:0.432:0.0	.	76	Q7Z3E5	ARMC9_HUMAN	Y	76	ENSP00000258417:D76Y;ENSP00000387391:D76Y	ENSP00000258417:D76Y	D	+	1	0	ARMC9	231787836	0.005000	0.15991	0.000000	0.03702	0.101000	0.19017	0.160000	0.16462	-1.414000	0.02025	-1.148000	0.01847	GAT		0.453	ARMC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256966.3	NM_025139		20	52	1	0	7.41877e-09	1	7.70411e-09	20	52				
OR5H14	403273	broad.mit.edu	37	3	97868537	97868537	+	Missense_Mutation	SNP	C	C	T	rs370923244		TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr3:97868537C>T	ENST00000437310.1	+	1	368	c.308C>T	c.(307-309)tCg>tTg	p.S103L	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	103						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S103L(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						CAGTTGTTTTCGTTTGCAATC	0.393																																						ENST00000437310.1																			1	Substitution - Missense(1)	p.S103L(1)	large_intestine(1)	breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						c.(307-309)tCg>tTg		olfactory receptor, family 5, subfamily H, member 14		C	LEU/SER	1,4395	2.1+/-5.4	0,1,2197	198.0	204.0	202.0		308	0.9	0.0	3		202	0,8598		0,0,4299	no	missense	OR5H14	NM_001005514.1	145	0,1,6496	TT,TC,CC		0.0,0.0227,0.0077	benign	103/311	97868537	1,12993	2198	4299	6497	SO:0001583	missense	403273				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97868537C>T		CCDS33798.1	3q11.2	2013-09-23			ENSG00000236032	ENSG00000236032		"""GPCR / Class A : Olfactory receptors"""	31286	protein-coding gene	gene with protein product							Standard	NM_001005514		Approved		uc003dsg.1	A6NHG9	OTTHUMG00000160079	ENST00000437310.1:c.308C>T	3.37:g.97868537C>T	ENSP00000401706:p.Ser103Leu						p.S103L	NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN			1	368	+			103					B9EH15	Missense_Mutation	SNP	ENST00000437310.1	37	c.308C>T	CCDS33798.1	.	.	.	.	.	.	.	.	.	.	C	5.956	0.360362	0.11296	2.27E-4	0.0	ENSG00000236032	ENST00000437310	T	0.00382	7.61	2.49	0.873	0.19118	GPCR, rhodopsin-like superfamily (1);	0.149335	0.31566	N	0.007432	T	0.00109	0.0003	N	0.00760	-1.21	0.09310	N	1	B	0.24317	0.101	B	0.17098	0.017	T	0.30679	-0.9970	10	0.39692	T	0.17	.	4.1872	0.10404	0.0:0.5102:0.0:0.4897	.	103	A6NHG9	O5H14_HUMAN	L	103	ENSP00000401706:S103L	ENSP00000401706:S103L	S	+	2	0	OR5H14	99351227	0.000000	0.05858	0.016000	0.15963	0.006000	0.05464	-0.106000	0.10890	0.365000	0.24400	0.195000	0.17529	TCG		0.393	OR5H14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359112.1			84	31	0	0	0	1	0	84	31				
SREBF1	6720	broad.mit.edu	37	17	17717630	17717630	+	Missense_Mutation	SNP	T	T	C	rs571282377		TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr17:17717630T>C	ENST00000261646.5	-	16	3014	c.2830A>G	c.(2830-2832)Atc>Gtc	p.I944V	SREBF1_ENST00000395757.1_Missense_Mutation_p.I690V|SREBF1_ENST00000338854.5_Missense_Mutation_p.I944V|MIR33B_ENST00000385104.1_RNA|SREBF1_ENST00000355815.4_Missense_Mutation_p.I974V	NM_004176.4	NP_004167.3	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1	944					aging (GO:0007568)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|cellular response to starvation (GO:0009267)|cholesterol metabolic process (GO:0008203)|circadian rhythm (GO:0007623)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|negative regulation of insulin secretion (GO:0046676)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of fatty acid metabolic process (GO:0019217)|regulation of heart rate by chemical signal (GO:0003062)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|response to food (GO:0032094)|response to glucagon (GO:0033762)|response to glucose (GO:0009749)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|sterol response element binding (GO:0032810)			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						TTCTCACAGATGGTCAGGCTG	0.657													T|||	1	0.000199681	0.0	0.0	5008	,	,		15883	0.0		0.0	False		,,,				2504	0.001					ENST00000355815.4																			0				cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						c.(2920-2922)Atc>Gtc		sterol regulatory element binding transcription factor 1							28.0	22.0	24.0					17																	17717630		2189	4291	6480	SO:0001583	missense	6720				cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus	protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding	g.chr17:17717630T>C	BC057388	CCDS11189.1, CCDS32583.1	17p11.2	2013-05-21			ENSG00000072310	ENSG00000072310		"""Basic helix-loop-helix proteins"""	11289	protein-coding gene	gene with protein product		184756				8402897, 7759101	Standard	NM_001005291		Approved	SREBP1, bHLHd1, SREBP-1c	uc002grt.2	P36956	OTTHUMG00000059313	ENST00000261646.5:c.2830A>G	17.37:g.17717630T>C	ENSP00000261646:p.Ile944Val					SREBF1_ENST00000261646.5_Missense_Mutation_p.I944V|SREBF1_ENST00000338854.5_Missense_Mutation_p.I944V|SREBF1_ENST00000395757.1_Missense_Mutation_p.I690V	p.I974V	NM_001005291.2	NP_001005291.1	P36956	SRBP1_HUMAN			17	3089	-			944					B0I4X3|B0I4X4|D3DXC4|Q16062|Q59F52|Q6P4R7|Q6PFW7|Q6PJ36|Q8TAK9	Missense_Mutation	SNP	ENST00000261646.5	37	c.2920A>G	CCDS11189.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.33|11.33	1.607518|1.607518	0.28623|0.28623	.|.	.|.	ENSG00000072310|ENSG00000072310	ENST00000395751|ENST00000338854;ENST00000355815;ENST00000261646;ENST00000395757;ENST00000395756;ENST00000418712;ENST00000423161	.|T;T;T;T	.|0.15139	.|2.45;2.45;2.45;2.45	5.1|5.1	-2.65|-2.65	0.06095|0.06095	.|.	.|0.835488	.|0.11203	.|N	.|0.588563	T|T	0.08447|0.08447	0.0210|0.0210	N|N	0.22421|0.22421	0.69|0.69	0.80722|0.80722	D|D	1|1	.|B;B;B	.|0.24368	.|0.036;0.102;0.024	.|B;B;B	.|0.25506	.|0.014;0.033;0.061	T|T	0.35599|0.35599	-0.9782|-0.9782	5|10	.|0.16896	.|T	.|0.51	-7.3986|-7.3986	4.8001|4.8001	0.13292|0.13292	0.1241:0.0898:0.5562:0.2299|0.1241:0.0898:0.5562:0.2299	.|.	.|944;974;563	.|P36956;P36956-4;A8MTU8	.|SRBP1_HUMAN;.;.	R|V	951|944;974;944;690;563;781;870	.|ENSP00000345822:I944V;ENSP00000348069:I974V;ENSP00000261646:I944V;ENSP00000379106:I690V	.|ENSP00000261646:I944V	H|I	-|-	2|1	0|0	SREBF1|SREBF1	17658355|17658355	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.998000|0.998000	0.95712|0.95712	1.066000|1.066000	0.30604|0.30604	-0.212000|-0.212000	0.10109|0.10109	0.454000|0.454000	0.30748|0.30748	CAT|ATC		0.657	SREBF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131771.1	NM_004176		6	5	0	0	0	1	0	6	5				
IGHV1OR15-9	390531	broad.mit.edu	37	15	20170018	20170018	+	RNA	SNP	C	C	G			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr15:20170018C>G	ENST00000338912.5	-	0	253									immunoglobulin heavy variable 1/OR15-9 (non-functional)									p.G85A(1)									GGTGACTCTGCCCTGGAACTT	0.547																																						ENST00000338912.5																			1	Substitution - Missense(1)	p.G85A(1)	lung(1)																	171.0	166.0	167.0					15																	20170018		2107	4229	6336			0							g.chr15:20170018C>G	L25542		15q11.1	2013-10-18	2008-08-22		ENSG00000188403	ENSG00000188403		"""Immunoglobulins / IGH orphons"""	5569	other	immunoglobulin gene			"""immunoglobulin heavy variable 1/OR15-9"", ""V-set and immunoglobulin domain containing 7"""	VSIG7		7959766	Standard	NG_032069		Approved	IGHV1/OR15-9, IGHV1OR159			OTTHUMG00000171652		15.37:g.20170018C>G														0	253	-									RNA	SNP	ENST00000338912.5	37																																																																																						0.547	IGHV1OR15-9-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000414646.4			4	218	0	0	0	1	0	4	218				
SLC6A3	6531	broad.mit.edu	37	5	1409222	1409222	+	Missense_Mutation	SNP	T	T	G			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr5:1409222T>G	ENST00000270349.9	-	11	1544	c.1417A>C	c.(1417-1419)Acg>Ccg	p.T473P	SLC6A3_ENST00000453492.2_Missense_Mutation_p.T473P	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	473					adenohypophysis development (GO:0021984)|aging (GO:0007568)|cation transmembrane transport (GO:0098655)|cell death (GO:0008219)|dopamine biosynthetic process (GO:0042416)|dopamine catabolic process (GO:0042420)|dopamine transport (GO:0015872)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|neurotransmitter biosynthetic process (GO:0042136)|positive regulation of multicellular organism growth (GO:0040018)|prepulse inhibition (GO:0060134)|regulation of dopamine metabolic process (GO:0042053)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|sensory perception of smell (GO:0007608)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine transmembrane transporter activity (GO:0005329)|dopamine:sodium symporter activity (GO:0005330)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Benzatropine(DB00245)|Benzphetamine(DB00865)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Cocaine(DB00907)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Diphenylpyraline(DB01146)|Dopamine(DB00988)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fencamfamine(DB01463)|Imipramine(DB00458)|Ioflupane I 123(DB08824)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Pethidine(DB00454)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Trimipramine(DB00726)|Venlafaxine(DB00285)	TCCAGGAGCGTGAAGACGTAG	0.582																																						ENST00000270349.9																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38						c.(1417-1419)Acg>Ccg		solute carrier family 6 (neurotransmitter transporter), member 3	Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)						57.0	50.0	52.0					5																	1409222		2201	4297	6498	SO:0001583	missense	6531				cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body		g.chr5:1409222T>G		CCDS3863.1	5p15.3	2013-07-19	2013-07-19		ENSG00000142319	ENSG00000142319		"""Solute carriers"""	11049	protein-coding gene	gene with protein product	"""dopamine transporter"""	126455	"""solute carrier family 6 (neurotransmitter transporter, dopamine), member 3"", ""dopamine transporter 1"""	DAT1		1406597	Standard	NM_001044		Approved	DAT	uc003jck.3	Q01959	OTTHUMG00000131016	ENST00000270349.9:c.1417A>C	5.37:g.1409222T>G	ENSP00000270349:p.Thr473Pro					SLC6A3_ENST00000453492.2_Missense_Mutation_p.T473P	p.T473P	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		11	1544	-			473					A2RUN4|Q14996	Missense_Mutation	SNP	ENST00000270349.9	37	c.1417A>C	CCDS3863.1	.	.	.	.	.	.	.	.	.	.	T	12.17	1.857024	0.32791	.	.	ENSG00000142319	ENST00000270349;ENST00000453492	T;T	0.74632	-0.86;-0.86	3.65	3.65	0.41850	.	0.168606	0.51477	D	0.000096	T	0.77425	0.4128	M	0.86178	2.8	0.52099	D	0.999948	B	0.27700	0.186	B	0.35688	0.208	T	0.77202	-0.2674	10	0.42905	T	0.14	.	10.5502	0.45083	0.0:0.0:0.0:1.0	.	473	Q01959	SC6A3_HUMAN	P	473	ENSP00000270349:T473P;ENSP00000399806:T473P	ENSP00000270349:T473P	T	-	1	0	SLC6A3	1462222	1.000000	0.71417	1.000000	0.80357	0.657000	0.38888	4.249000	0.58766	1.661000	0.50771	0.454000	0.30748	ACG		0.582	SLC6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253650.3	NM_001044		11	13	0	0	0	1	0	11	13				
GPR124	25960	broad.mit.edu	37	8	37687461	37687461	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr8:37687461C>T	ENST00000412232.2	+	6	660	c.647C>T	c.(646-648)aCg>aTg	p.T216M	GPR124_ENST00000315215.7_Missense_Mutation_p.T216M	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	216	LRRCT.				central nervous system development (GO:0007417)|endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuropeptide signaling pathway (GO:0007218)|positive regulation of endothelial cell migration (GO:0010595)|regulation of angiogenesis (GO:0045765)|regulation of chemotaxis (GO:0050920)|regulation of establishment of blood-brain barrier (GO:0090210)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			TCGGAACACACGCTCTGTGCT	0.662																																						ENST00000315215.7																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(646-648)aCg>aTg		G protein-coupled receptor 124							43.0	38.0	39.0					8																	37687461		2202	4300	6502	SO:0001583	missense	25960				central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr8:37687461C>T	AB040964	CCDS6097.2	8p11.22	2014-08-08			ENSG00000020181	ENSG00000020181		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17849	protein-coding gene	gene with protein product	"""tumor endothelial marker 5"""	606823				11559528, 12565841	Standard	NM_032777		Approved	TEM5, DKFZp434C211, DKFZp434J0911, KIAA1531, FLJ14390	uc003xkj.3	Q96PE1	OTTHUMG00000156182	ENST00000412232.2:c.647C>T	8.37:g.37687461C>T	ENSP00000406367:p.Thr216Met					GPR124_ENST00000412232.2_Missense_Mutation_p.T216M	p.T216M			Q96PE1	GP124_HUMAN	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		6	1010	+			216			LRRCT.		A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Missense_Mutation	SNP	ENST00000412232.2	37	c.647C>T	CCDS6097.2	.	.	.	.	.	.	.	.	.	.	C	18.65	3.669132	0.67814	.	.	ENSG00000020181	ENST00000428068;ENST00000416514;ENST00000315215;ENST00000412232	D;D;D	0.90261	-2.64;-2.64;-2.64	5.21	5.21	0.72293	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.96043	0.8711	M	0.87180	2.865	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.991	D	0.96558	0.9413	10	0.72032	D	0.01	-16.0467	18.7518	0.91819	0.0:1.0:0.0:0.0	.	216;216	Q96PE1-2;Q96PE1	.;GP124_HUMAN	M	174;209;216;216	ENSP00000400860:T174M;ENSP00000323508:T216M;ENSP00000406367:T216M	ENSP00000323508:T216M	T	+	2	0	GPR124	37806619	1.000000	0.71417	0.952000	0.39060	0.038000	0.13279	7.674000	0.83992	2.434000	0.82447	0.462000	0.41574	ACG		0.662	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343331.2			3	36	0	0	0	1	0	3	36				
RPL23	9349	broad.mit.edu	37	17	37006642	37006642	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr17:37006642T>C	ENST00000479035.2	-	4	445	c.313A>G	c.(313-315)Ata>Gta	p.I105V	RPL23_ENST00000394332.1_Missense_Mutation_p.I105V|SNORA21_ENST00000516890.1_RNA|RPL23_ENST00000245857.5_Missense_Mutation_p.I46V|RPL23_ENST00000394333.1_Intron|RPL23_ENST00000577407.1_Missense_Mutation_p.I105V|SNORA21_ENST00000362423.1_RNA	NM_000978.3	NP_000969.1	P62829	RL23_HUMAN	ribosomal protein L23	105					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal protein import into nucleus (GO:0006610)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(2)|large_intestine(1)	3						TTGTTCACTATGACTCCTGCA	0.423																																						ENST00000479035.2																			0				endometrium(2)|large_intestine(1)	3						c.(313-315)Ata>Gta		ribosomal protein L23							186.0	152.0	163.0					17																	37006642		2203	4300	6503	SO:0001583	missense	9349				endocrine pancreas development|ribosomal protein import into nucleus|translational elongation|translational termination|viral transcription	cytosol|ribosome	protein binding|structural constituent of ribosome	g.chr17:37006642T>C	X52839	CCDS11330.1	17q12	2011-04-06			ENSG00000125691	ENSG00000125691		"""L ribosomal proteins"""	10316	protein-coding gene	gene with protein product		603662				1861993	Standard	NM_000978		Approved	rpL17, L23	uc002hqx.1	P62829	OTTHUMG00000133118	ENST00000479035.2:c.313A>G	17.37:g.37006642T>C	ENSP00000420311:p.Ile105Val					RPL23_ENST00000394333.1_Intron|RPL23_ENST00000577407.1_Missense_Mutation_p.I105V|RPL23_ENST00000245857.5_Missense_Mutation_p.I46V|RPL23_ENST00000394332.1_Missense_Mutation_p.I105V	p.I105V	NM_000978.3	NP_000969.1	P62829	RL23_HUMAN			4	445	-			105					P23131|P24048|Q29246|Q3SWV7|Q6P5S1	Missense_Mutation	SNP	ENST00000479035.2	37	c.313A>G	CCDS11330.1	.	.	.	.	.	.	.	.	.	.	T	25.1	4.607038	0.87157	.	.	ENSG00000125691	ENST00000479035;ENST00000394332	.	.	.	5.4	5.4	0.78164	Ribosomal protein L14 conserved site (1);Ribosomal protein L14 domain (2);	0.000000	0.85682	U	0.000000	D	0.83871	0.5348	M	0.87758	2.905	0.80722	D	1	B	0.27450	0.179	P	0.48304	0.573	D	0.84462	0.0594	9	0.59425	D	0.04	-1.0088	14.2406	0.65954	0.0:0.0:0.0:1.0	.	105	P62829	RL23_HUMAN	V	105	.	ENSP00000377865:I105V	I	-	1	0	RPL23	34260168	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.963000	0.87922	2.061000	0.61500	0.397000	0.26171	ATA		0.423	RPL23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256785.3	NM_000978		42	64	0	0	0	1	0	42	64				
NAGLU	4669	broad.mit.edu	37	17	40695939	40695939	+	Nonsense_Mutation	SNP	G	G	T	rs555145190		TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr17:40695939G>T	ENST00000225927.2	+	6	2016	c.1915G>T	c.(1915-1917)Gag>Tag	p.E639*	RP11-400F19.8_ENST00000585572.1_RNA	NM_000263.3	NP_000254.2	P54802	ANAG_HUMAN	N-acetylglucosaminidase, alpha	639					carbohydrate metabolic process (GO:0005975)|cerebellar Purkinje cell layer development (GO:0021680)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|inner ear receptor cell development (GO:0060119)|locomotor rhythm (GO:0045475)|lysosome organization (GO:0007040)|middle ear morphogenesis (GO:0042474)|nervous system development (GO:0007399)|retinal rod cell development (GO:0046548)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	alpha-N-acetylglucosaminidase activity (GO:0004561)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	12		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)	N-Acetyl-D-glucosamine(DB00141)	CGATTTCTACGAGCAGAACAG	0.617																																						ENST00000225927.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	12	GRCh37	CM053338	NAGLU	M		c.(1915-1917)Gag>Tag		N-acetylglucosaminidase, alpha	N-Acetyl-D-glucosamine(DB00141)						25.0	21.0	22.0					17																	40695939		2201	4295	6496	SO:0001587	stop_gained	4669					lysosome	alpha-N-acetylglucosaminidase activity	g.chr17:40695939G>T		CCDS11427.1	17q21.2	2010-07-27	2010-07-27		ENSG00000108784	ENSG00000108784	3.2.1.50		7632	protein-coding gene	gene with protein product	"""Sanfilippo disease IIIB"""	609701					Standard	XM_006721920		Approved	NAG	uc002hzv.3	P54802		ENST00000225927.2:c.1915G>T	17.37:g.40695939G>T	ENSP00000225927:p.Glu639*					RP11-400F19.8_ENST00000585572.1_RNA	p.E639*	NM_000263.3	NP_000254.2	P54802	ANAG_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.13)	6	2016	+		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)	639						Nonsense_Mutation	SNP	ENST00000225927.2	37	c.1915G>T	CCDS11427.1	.	.	.	.	.	.	.	.	.	.	G	39	7.565372	0.98361	.	.	ENSG00000108784	ENST00000225927;ENST00000377405	.	.	.	4.69	4.69	0.59074	.	0.050710	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-23.478	16.7273	0.85426	0.0:0.0:1.0:0.0	.	.	.	.	X	639;315	.	ENSP00000225927:E639X	E	+	1	0	NAGLU	37949465	1.000000	0.71417	0.994000	0.49952	0.920000	0.55202	6.297000	0.72757	2.605000	0.88082	0.561000	0.74099	GAG		0.617	NAGLU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450385.1	NM_000263		5	12	1	0	0.0215528	1	0.0218222	5	12				
OR7A5	26659	broad.mit.edu	37	19	14938184	14938184	+	Silent	SNP	A	A	G	rs200531878		TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr19:14938184A>G	ENST00000322301.3	-	2	957	c.870T>C	c.(868-870)taT>taC	p.Y290Y	OR7A5_ENST00000601611.1_Intron|OR7A5_ENST00000594432.1_Silent_p.Y290Y			Q15622	OR7A5_HUMAN	olfactory receptor, family 7, subfamily A, member 5	290					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y290Y(2)		breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						TCCTCAGACTATAGATAAAGG	0.478																																						ENST00000322301.3																			2	Substitution - coding silent(2)	p.Y290Y(2)	kidney(2)	breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(868-870)taT>taC		olfactory receptor, family 7, subfamily A, member 5							74.0	72.0	72.0					19																	14938184		2203	4300	6503	SO:0001819	synonymous_variant	26659				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:14938184A>G	X64976	CCDS12318.1	19p13.1	2012-08-09	2003-12-09			ENSG00000188269		"""GPCR / Class A : Olfactory receptors"""	8368	protein-coding gene	gene with protein product			"""olfactory receptor, family 7, subfamily A, member 5 pseudogene"""				Standard	XM_006722722		Approved	HTPCR2	uc002mzw.3	Q15622		ENST00000322301.3:c.870T>C	19.37:g.14938184A>G						OR7A5_ENST00000601611.1_Intron|OR7A5_ENST00000594432.1_Silent_p.Y290Y	p.Y290Y			Q15622	OR7A5_HUMAN			2	957	-			290					B2R682|Q6IFP1|Q96R96	Silent	SNP	ENST00000322301.3	37	c.870T>C	CCDS12318.1																																																																																				0.478	OR7A5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466518.1	NM_017506		4	105	0	0	0	1	0	4	105				
TSIX	9383	broad.mit.edu	37	X	73047032	73047032	+	lincRNA	SNP	C	C	T			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chrX:73047032C>T	ENST00000604411.1	+	0	34993				XIST_ENST00000429829.1_lincRNA	NR_003255.2				TSIX transcript, XIST antisense RNA																		ACATGGCAGCCTGGCATAAGG	0.517																																						ENST00000604411.1																			0																				256.0	227.0	236.0					X																	73047032		876	1991	2867			0							g.chrX:73047032C>T			Xq13.2	2012-10-19	2012-08-15			ENSG00000270641		"""Long non-coding RNAs"", ""-"""	12377	non-coding RNA	RNA, long non-coding	"""XIST antisense RNA (non-protein coding)"", ""long intergenic non-protein coding RNA 13"""	300181	"""X (inactive)-specific transcript, antisense"", ""TSIX transcript, XIST antisense RNA (non-protein coding)"""			10192391	Standard	NR_003255		Approved	NCRNA00013, XIST-AS1, LINC00013	uc004ebn.2				X.37:g.73047032C>T						XIST_ENST00000429829.1_lincRNA		NR_003255.2						0	34993	+									RNA	SNP	ENST00000604411.1	37																																																																																						0.517	TSIX-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000469120.1	NR_003255		4	126	0	0	0	1	0	4	126				
LRRC31	79782	broad.mit.edu	37	3	169558001	169558001	+	Silent	SNP	G	G	A	rs547156232		TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr3:169558001G>A	ENST00000316428.5	-	9	1485	c.1428C>T	c.(1426-1428)aaC>aaT	p.N476N	LRRC31_ENST00000264676.5_Silent_p.N420N|LRRC31_ENST00000523069.1_3'UTR	NM_001277127.1|NM_024727.2	NP_001264056.1|NP_079003.2	Q6UY01	LRC31_HUMAN	leucine rich repeat containing 31	476										cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			GGAACCGCACGTTTTGGCAGA	0.473													G|||	1	0.000199681	0.0	0.0	5008	,	,		18897	0.0		0.0	False		,,,				2504	0.001					ENST00000316428.5																			0				cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31						c.(1426-1428)aaC>aaT		leucine rich repeat containing 31							138.0	128.0	131.0					3																	169558001		1996	4165	6161	SO:0001819	synonymous_variant	79782							g.chr3:169558001G>A	AK026912	CCDS43167.1, CCDS63832.1, CCDS63833.1	3q26.2	2005-01-24			ENSG00000114248	ENSG00000114248			26261	protein-coding gene	gene with protein product						12975309	Standard	NM_001277127		Approved	FLJ23259	uc003fgc.2	Q6UY01	OTTHUMG00000164421	ENST00000316428.5:c.1428C>T	3.37:g.169558001G>A						LRRC31_ENST00000523069.1_3'UTR|LRRC31_ENST00000264676.5_Silent_p.N420N	p.N476N	NM_001277127.1|NM_024727.2	NP_001264056.1|NP_079003.2	Q6UY01	LRC31_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)		9	1485	-	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		476					B7ZL44|E5RJA9|Q17RA3|Q8N848|Q9H5N5|V9HW14	Silent	SNP	ENST00000316428.5	37	c.1428C>T	CCDS43167.1																																																																																				0.473	LRRC31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378699.1	NM_024727		4	98	0	0	0	1	0	4	98				
KRTAP5-1	387264	broad.mit.edu	37	11	1606210	1606210	+	Silent	SNP	G	G	A			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr11:1606210G>A	ENST00000382171.2	-	1	303	c.270C>T	c.(268-270)ggC>ggT	p.G90G	KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	90	8 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16		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;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCCCACAAGAGCCACAGCCCC	0.667																																						ENST00000382171.2																			0				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16						c.(268-270)ggC>ggT		keratin associated protein 5-1							35.0	51.0	46.0					11																	1606210		2201	4291	6492	SO:0001819	synonymous_variant	387264					keratin filament		g.chr11:1606210G>A	AB126070	CCDS31330.1	11p15.5	2008-02-05			ENSG00000205869	ENSG00000205869		"""Keratin associated proteins"""	23596	protein-coding gene	gene with protein product		148022	"""keratin, cuticle, ultrahigh sulphur 1-like"""	KRN1L		15144888	Standard	NM_001005922		Approved	KRTAP5.1	uc001ltu.1	Q6L8H4	OTTHUMG00000057557	ENST00000382171.2:c.270C>T	11.37:g.1606210G>A						KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA	p.G90G	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	303	-		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)	90			8 X 4 AA repeats of C-C-X-P.			Silent	SNP	ENST00000382171.2	37	c.270C>T	CCDS31330.1																																																																																				0.667	KRTAP5-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127922.1	NM_001005922		5	129	0	0	0	1	0	5	129				
ABCC9	10060	broad.mit.edu	37	12	22069947	22069947	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr12:22069947C>T	ENST00000261201.4	-	4	496	c.497G>A	c.(496-498)cGt>cAt	p.R166H	ABCC9_ENST00000345162.2_Missense_Mutation_p.R166H|ABCC9_ENST00000261200.4_Missense_Mutation_p.R166H	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	166					defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	GATGCAGAAACGCAGGTTTGA	0.418																																						ENST00000261200.4																			0				NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118						c.(496-498)cGt>cAt		ATP-binding cassette, sub-family C (CFTR/MRP), member 9	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						209.0	197.0	201.0					12																	22069947		2203	4300	6503	SO:0001583	missense	10060				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	g.chr12:22069947C>T	AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.497G>A	12.37:g.22069947C>T	ENSP00000261201:p.Arg166His					ABCC9_ENST00000261201.4_Missense_Mutation_p.R166H|ABCC9_ENST00000345162.2_Missense_Mutation_p.R166H	p.R166H	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN			4	496	-			166					O60707	Missense_Mutation	SNP	ENST00000261201.4	37	c.497G>A	CCDS8694.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.021333	0.93462	.	.	ENSG00000069431	ENST00000261200;ENST00000261201;ENST00000345162	D;D;D	0.92545	-3.05;-3.06;-3.04	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	D	0.96084	0.8724	M	0.78049	2.395	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.91635	0.95;0.999	D	0.96604	0.9447	10	0.87932	D	0	-8.0473	18.4944	0.90860	0.0:1.0:0.0:0.0	.	166;166	O60706;O60706-2	ABCC9_HUMAN;.	H	166	ENSP00000261200:R166H;ENSP00000261201:R166H;ENSP00000261202:R166H	ENSP00000261200:R166H	R	-	2	0	ABCC9	21961214	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	7.625000	0.83145	2.371000	0.80710	0.650000	0.86243	CGT		0.418	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691		35	182	0	0	0	1	0	35	182				
CCDC33	80125	broad.mit.edu	37	15	74623086	74623086	+	Silent	SNP	G	G	A			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr15:74623086G>A	ENST00000398814.3	+	13	1970	c.1539G>A	c.(1537-1539)ctG>ctA	p.L513L	CCDC33_ENST00000268082.4_Silent_p.L106L|CCDC33_ENST00000321288.5_Silent_p.L716L|CCDC33_ENST00000558821.1_Silent_p.L106L	NM_025055.3	NP_079331.3	Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	716										breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						AGAATGAGCTGATTCGAGTGA	0.567																																						ENST00000321288.5																			0				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						c.(2146-2148)ctG>ctA		coiled-coil domain containing 33							69.0	71.0	70.0					15																	74623086		1985	4160	6145	SO:0001819	synonymous_variant	80125						protein binding	g.chr15:74623086G>A	BC025689	CCDS42058.1, CCDS42059.1, CCDS73753.1	15q24.1	2009-08-06				ENSG00000140481			26552	protein-coding gene	gene with protein product	"""cancer/testis antigen 61"""					12477932	Standard	NM_025055		Approved	FLJ32855, CT61	uc002axo.4	Q8N5R6		ENST00000398814.3:c.1539G>A	15.37:g.74623086G>A						CCDC33_ENST00000558821.1_Silent_p.L106L|CCDC33_ENST00000268082.4_Silent_p.L106L|CCDC33_ENST00000398814.3_Silent_p.L513L	p.L716L			Q8N5R6	CCD33_HUMAN			15	2148	+			716					A8K3U4|A8MPQ6|A8MV61|A8MVU9|B3KQ49|Q8TAX6|Q9H5Q6	Silent	SNP	ENST00000398814.3	37	c.2148G>A	CCDS42058.1																																																																																				0.567	CCDC33-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419491.2	NM_182791		31	45	0	0	0	1	0	31	45				
AADACL4	343066	broad.mit.edu	37	1	12726312	12726312	+	Missense_Mutation	SNP	C	C	T	rs560787141		TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr1:12726312C>T	ENST00000376221.1	+	4	790	c.790C>T	c.(790-792)Cgt>Tgt	p.R264C		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	264						integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		CCTCTCCTGGCGTGACGCCAT	0.502													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19680	0.0		0.0	False		,,,				2504	0.0					ENST00000376221.1																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17						c.(790-792)Cgt>Tgt		arylacetamide deacetylase-like 4							141.0	138.0	139.0					1																	12726312		2203	4300	6503	SO:0001583	missense	343066					integral to membrane	carboxylesterase activity	g.chr1:12726312C>T		CCDS30590.1	1p36.21	2010-12-14			ENSG00000204518	ENSG00000204518			32038	protein-coding gene	gene with protein product							Standard	XM_006710608		Approved	OTTHUMG00000001889	uc001auf.3	Q5VUY2	OTTHUMG00000001889	ENST00000376221.1:c.790C>T	1.37:g.12726312C>T	ENSP00000365395:p.Arg264Cys						p.R264C	NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)	4	790	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	264						Missense_Mutation	SNP	ENST00000376221.1	37	c.790C>T	CCDS30590.1	.	.	.	.	.	.	.	.	.	.	C	12.80	2.047875	0.36085	.	.	ENSG00000204518	ENST00000376221	T	0.59083	0.29	4.38	-8.76	0.00830	.	3.304730	0.00815	N	0.001532	T	0.37404	0.1002	L	0.27053	0.805	0.09310	N	1	B	0.21452	0.056	B	0.11329	0.006	T	0.15263	-1.0443	10	0.38643	T	0.18	0.0023	4.8917	0.13730	0.4488:0.3735:0.0779:0.0998	.	264	Q5VUY2	ADCL4_HUMAN	C	264	ENSP00000365395:R264C	ENSP00000365395:R264C	R	+	1	0	AADACL4	12648899	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-6.793000	0.00053	-2.115000	0.00831	-1.014000	0.02459	CGT		0.502	AADACL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005328.1	NM_001013630		19	102	0	0	0	1	0	19	102				
LMAN1	3998	broad.mit.edu	37	18	57006123	57006123	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr18:57006123G>A	ENST00000251047.5	-	9	1735	c.1018C>T	c.(1018-1020)Cgt>Tgt	p.R340C		NM_005570.3	NP_005561.1	P49257	LMAN1_HUMAN	lectin, mannose-binding, 1	340					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum organization (GO:0007029)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|positive regulation of organelle organization (GO:0010638)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|sarcomere (GO:0030017)	mannose binding (GO:0005537)|metal ion binding (GO:0046872)|unfolded protein binding (GO:0051082)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)	AGATGAATACGATTCTGTCCT	0.373																																						ENST00000251047.5																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						c.(1018-1020)Cgt>Tgt		lectin, mannose-binding, 1	Antihemophilic Factor(DB00025)						145.0	137.0	140.0					18																	57006123		2203	4300	6503	SO:0001583	missense	3998				blood coagulation|ER to Golgi vesicle-mediated transport|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	mannose binding|metal ion binding|unfolded protein binding	g.chr18:57006123G>A	X71661	CCDS11974.1	18q21.3-q22	2014-09-17	2002-08-30		ENSG00000074695	ENSG00000074695			6631	protein-coding gene	gene with protein product	"""endoplasmic reticulum-golgi intermediate compartment protein 53"""	601567	"""coagulation factor V-factor VIII combined deficiency"""	F5F8D		9546392, 8854877	Standard	NM_005570		Approved	MR60, ERGIC-53, ERGIC53, gp58, MCFD1, FMFD1	uc002lhz.3	P49257	OTTHUMG00000132758	ENST00000251047.5:c.1018C>T	18.37:g.57006123G>A	ENSP00000251047:p.Arg340Cys						p.R340C	NM_005570.3	NP_005561.1	P49257	LMAN1_HUMAN			9	1735	-		Colorectal(73;0.0946)	340					Q12895|Q8N5I7|Q9UQG1|Q9UQG2|Q9UQG3|Q9UQG4|Q9UQG5|Q9UQG6|Q9UQG7|Q9UQG8|Q9UQG9|Q9UQH0|Q9UQH1|Q9UQH2	Missense_Mutation	SNP	ENST00000251047.5	37	c.1018C>T	CCDS11974.1	.	.	.	.	.	.	.	.	.	.	G	34	5.369961	0.95900	.	.	ENSG00000074695	ENST00000251047	T	0.56941	0.43	5.67	5.67	0.87782	.	0.048972	0.85682	D	0.000000	T	0.67776	0.2929	M	0.61703	1.905	0.80722	D	1	D	0.76494	0.999	P	0.57324	0.818	T	0.69105	-0.5233	10	0.72032	D	0.01	-8.7651	19.7371	0.96210	0.0:0.0:1.0:0.0	.	340	P49257	LMAN1_HUMAN	C	340	ENSP00000251047:R340C	ENSP00000251047:R340C	R	-	1	0	LMAN1	55157103	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.415000	0.80131	2.836000	0.97738	0.655000	0.94253	CGT		0.373	LMAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256129.2	NM_005570		5	104	0	0	0	1	0	5	104				
AMOTL1	154810	broad.mit.edu	37	11	94554698	94554698	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr11:94554698G>A	ENST00000433060.2	+	4	1265	c.1124G>A	c.(1123-1125)cGc>cAc	p.R375H	AMOTL1_ENST00000317829.8_Missense_Mutation_p.R325H|AMOTL1_ENST00000539727.1_3'UTR|AMOTL1_ENST00000317837.9_Missense_Mutation_p.R375H	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	375					establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|hippo signaling (GO:0035329)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|tight junction (GO:0005923)	identical protein binding (GO:0042802)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				CCTTGCAGCCGCCCATGCCAA	0.602																																						ENST00000433060.2																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36						c.(1123-1125)cGc>cAc		angiomotin like 1							27.0	33.0	31.0					11																	94554698		2144	4244	6388	SO:0001583	missense	154810					cytoplasm|tight junction	identical protein binding	g.chr11:94554698G>A	AF453742	CCDS44712.1, CCDS73368.1	11q21	2008-07-18				ENSG00000166025			17811	protein-coding gene	gene with protein product	"""junction-enriched and associated protein"""	614657				11733531	Standard	XM_005273798		Approved	JEAP	uc001pfb.3	Q8IY63		ENST00000433060.2:c.1124G>A	11.37:g.94554698G>A	ENSP00000387739:p.Arg375His					AMOTL1_ENST00000539727.1_3'UTR|AMOTL1_ENST00000317829.8_Missense_Mutation_p.R325H|AMOTL1_ENST00000317837.9_Missense_Mutation_p.R375H	p.R375H	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN			4	1265	+		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)	375					Q63HK7|Q8NDN0|Q8TEN8|Q8WXD1|Q96CM5	Missense_Mutation	SNP	ENST00000433060.2	37	c.1124G>A	CCDS44712.1	.	.	.	.	.	.	.	.	.	.	G	15.71	2.913356	0.52439	.	.	ENSG00000166025	ENST00000317829;ENST00000542840;ENST00000317837;ENST00000433060	T;T;T	0.13089	2.62;2.62;2.62	5.68	5.68	0.88126	.	0.076575	0.56097	D	0.000032	T	0.33789	0.0875	M	0.66939	2.045	0.51482	D	0.999926	D;D	0.76494	0.999;0.996	D;P	0.65323	0.934;0.67	T	0.02813	-1.1107	10	0.13853	T	0.58	-25.1937	19.7951	0.96477	0.0:0.0:1.0:0.0	.	325;375	Q8IY63-2;Q8IY63	.;AMOL1_HUMAN	H	325;381;375;375	ENSP00000320968:R325H;ENSP00000323474:R375H;ENSP00000387739:R375H	ENSP00000320968:R325H	R	+	2	0	AMOTL1	94194346	1.000000	0.71417	1.000000	0.80357	0.607000	0.37147	5.190000	0.65104	2.698000	0.92095	0.561000	0.74099	CGC		0.602	AMOTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396474.3	NM_130847		3	42	0	0	0	1	0	3	42				
ZER1	10444	broad.mit.edu	37	9	131512920	131512920	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr9:131512920C>T	ENST00000291900.2	-	8	1740	c.1334G>A	c.(1333-1335)gGc>gAc	p.G445D	ZER1_ENST00000494461.1_5'Flank|snoU13_ENST00000459043.1_RNA	NM_006336.2	NP_006327.2	Q7Z7L7	ZER1_HUMAN	zyg-11 related, cell cycle regulator	445					protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein transferase activity (GO:0051438)	Cul2-RING ubiquitin ligase complex (GO:0031462)	ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	15						GGATTCCATGCCATTCAGCAC	0.627																																						ENST00000291900.2																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	15						c.(1333-1335)gGc>gAc		zyg-11 related, cell cycle regulator							74.0	61.0	65.0					9																	131512920		2203	4300	6503	SO:0001583	missense	10444				ATP hydrolysis coupled proton transport|regulation of ubiquitin-protein ligase activity	Cul2-RING ubiquitin ligase complex|vacuolar proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism|ubiquitin-protein ligase activity	g.chr9:131512920C>T	X99802	CCDS6910.1	9q33.3	2013-01-17	2012-12-10	2007-01-04	ENSG00000160445	ENSG00000160445		"""ZYG11 cell cycle regulator family"""	30960	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 60"", ""zyg-11 homolog B (C. elegans)-like"", ""zer-1 homolog (C. elegans)"""	C9orf60, ZYG11BL		11719588	Standard	NM_006336		Approved	ZYG, Hzyg	uc004bwa.2	Q7Z7L7	OTTHUMG00000020759	ENST00000291900.2:c.1334G>A	9.37:g.131512920C>T	ENSP00000291900:p.Gly445Asp						p.G445D	NM_006336.2	NP_006327.2	Q7Z7L7	ZER1_HUMAN			8	1740	-			445					O00156|Q5T272|Q5T273	Missense_Mutation	SNP	ENST00000291900.2	37	c.1334G>A	CCDS6910.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.857026	0.91433	.	.	ENSG00000160445	ENST00000291900	T	0.06449	3.3	4.35	4.35	0.52113	Armadillo-like helical (1);Armadillo-type fold (1);	0.057720	0.64402	D	0.000002	T	0.17195	0.0413	M	0.65498	2.005	0.80722	D	1	P	0.39022	0.655	P	0.49361	0.608	T	0.00719	-1.1595	10	0.66056	D	0.02	-39.6271	16.0478	0.80731	0.0:1.0:0.0:0.0	.	445	Q7Z7L7	ZER1_HUMAN	D	445	ENSP00000291900:G445D	ENSP00000291900:G445D	G	-	2	0	ZER1	130552741	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.084000	0.76866	2.259000	0.74868	0.467000	0.42956	GGC		0.627	ZER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054491.1	NM_006336		38	32	0	0	0	1	0	38	32				
HIST1H1C	3006	broad.mit.edu	37	6	26056630	26056630	+	Silent	SNP	G	G	C			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr6:26056630G>C	ENST00000343677.2	-	1	69	c.27C>G	c.(25-27)ccC>ccG	p.P9P		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	9					nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						GCGCGGCAGCGGGAGCGGCAG	0.617																																						ENST00000343677.2																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						c.(25-27)ccC>ccG		histone cluster 1, H1c							29.0	34.0	32.0					6																	26056630		2174	4272	6446	SO:0001819	synonymous_variant	3006				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26056630G>C	X57129	CCDS4577.1	6p21.3	2012-10-02	2006-10-11	2003-02-21	ENSG00000187837	ENSG00000187837		"""Histones / Replication-dependent"""	4716	protein-coding gene	gene with protein product		142710	"""H1 histone family, member 2"", ""histone 1, H1c"""	H1F2		2759094, 12408966	Standard	NM_005319		Approved	H1.2, H1s-1, H1c	uc003nfw.3	P16403	OTTHUMG00000016140	ENST00000343677.2:c.27C>G	6.37:g.26056630G>C							p.P9P	NM_005319.3	NP_005310.1	P16403	H12_HUMAN			1	69	-			9					A8K4I2	Silent	SNP	ENST00000343677.2	37	c.27C>G	CCDS4577.1																																																																																				0.617	HIST1H1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043372.1	NM_005319		32	55	0	0	0	1	0	32	55				
DDX51	317781	broad.mit.edu	37	12	132626153	132626153	+	Splice_Site	SNP	T	T	C			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr12:132626153T>C	ENST00000397333.3	-	7	1034		c.e7-2		NOC4L_ENST00000330579.1_5'Flank	NM_175066.3	NP_778236.2	Q8N8A6	DDX51_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 51						rRNA processing (GO:0006364)	membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)		CCATCAGCTCTACAGACCAGA	0.622																																						ENST00000397333.3																			0				endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	10						c.e7-2		DEAD (Asp-Glu-Ala-Asp) box polypeptide 51							34.0	44.0	41.0					12																	132626153		2119	4231	6350	SO:0001630	splice_region_variant	317781				rRNA processing	nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr12:132626153T>C	BC040185	CCDS41865.1	12q24.33	2005-10-12				ENSG00000185163		"""DEAD-boxes"""	20082	protein-coding gene	gene with protein product							Standard	NM_175066		Approved		uc001ujy.4	Q8N8A6		ENST00000397333.3:c.996-2A>G	12.37:g.132626153T>C								NM_175066.3	NP_778236.2	Q8N8A6	DDX51_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)	7	1034	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)						A8MPT9|Q5CZ71|Q8IXK5|Q96ED1	Splice_Site	SNP	ENST00000397333.3	37		CCDS41865.1	.	.	.	.	.	.	.	.	.	.	T	13.72	2.320299	0.41096	.	.	ENSG00000185163	ENST00000397333	.	.	.	4.83	4.83	0.62350	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.371	0.55254	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	DDX51	131192106	1.000000	0.71417	0.024000	0.17045	0.002000	0.02628	4.854000	0.62918	1.805000	0.52779	0.482000	0.46254	.		0.622	DDX51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398978.1	NM_175066	Intron	19	34	0	0	0	1	0	19	34				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			23	32	0	0	0	1	0	23	32				
GOLGA4	2803	broad.mit.edu	37	3	37402755	37402755	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr3:37402755A>G	ENST00000361924.2	+	23	7059	c.6685A>G	c.(6685-6687)Atc>Gtc	p.I2229V	GOLGA4_ENST00000356847.4_Intron|GOLGA4_ENST00000444882.1_Intron	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	2229					Golgi to plasma membrane protein transport (GO:0043001)|protein targeting to Golgi (GO:0000042)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	GTPase binding (GO:0051020)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						TCGCAGTGGTATCTTCTGAGT	0.353																																						ENST00000361924.2																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(6685-6687)Atc>Gtc		golgin A4							185.0	160.0	168.0					3																	37402755		2203	4300	6503	SO:0001583	missense	2803				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding	g.chr3:37402755A>G	U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"""golgin 245"""	602509	"""golgi autoantigen, golgin subfamily a, 4"""			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	ENST00000361924.2:c.6685A>G	3.37:g.37402755A>G	ENSP00000354486:p.Ile2229Val					GOLGA4_ENST00000356847.4_Intron|GOLGA4_ENST00000444882.1_Intron	p.I2229V	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN			23	7059	+			2229					F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Missense_Mutation	SNP	ENST00000361924.2	37	c.6685A>G	CCDS2666.1	.	.	.	.	.	.	.	.	.	.	A	14.90	2.673577	0.47781	.	.	ENSG00000144674	ENST00000361924	T	0.24908	1.83	5.7	4.52	0.55395	.	.	.	.	.	T	0.16514	0.0397	N	0.08118	0	0.80722	D	1	D	0.53312	0.959	B	0.43950	0.437	T	0.05971	-1.0853	9	0.87932	D	0	.	12.939	0.58331	0.8646:0.1354:0.0:0.0	.	2229	Q13439	GOGA4_HUMAN	V	2229	ENSP00000354486:I2229V	ENSP00000354486:I2229V	I	+	1	0	GOLGA4	37377759	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.894000	0.56250	0.971000	0.38288	0.460000	0.39030	ATC		0.353	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253339.2	NM_002078		9	57	0	0	0	1	0	9	57				
CAPS2	84698	broad.mit.edu	37	12	75692508	75692508	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr12:75692508G>A	ENST00000409445.3	-	12	1256	c.1060C>T	c.(1060-1062)Cga>Tga	p.R354*	CAPS2_ENST00000442339.2_Intron|CAPS2_ENST00000393284.3_Nonsense_Mutation_p.R122*|CAPS2_ENST00000409799.1_Nonsense_Mutation_p.R272*|CAPS2_ENST00000409004.1_5'UTR|RP11-560G2.1_ENST00000534648.2_RNA	NM_032606.3	NP_115995.2	Q9BXY5	CAYP2_HUMAN	calcyphosine 2	354							calcium ion binding (GO:0005509)			endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	10						CCTTTTCTTCGTCCACACTGA	0.353																																						ENST00000393284.3																			0				endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	10						c.(364-366)Cga>Tga		calcyphosine 2							147.0	143.0	145.0					12																	75692508		2203	4299	6502	SO:0001587	stop_gained	84698						calcium ion binding	g.chr12:75692508G>A	AF251056	CCDS9008.2, CCDS66424.1, CCDS73497.1	12q14.1	2013-01-10	2005-05-09		ENSG00000180881	ENSG00000180881		"""EF-hand domain containing"""	16471	protein-coding gene	gene with protein product		607724	"""calcyphosphine 2"""			11846421	Standard	NM_032606		Approved		uc001sxk.4	Q9BXY5	OTTHUMG00000152787	ENST00000409445.3:c.1060C>T	12.37:g.75692508G>A	ENSP00000386959:p.Arg354*					CAPS2_ENST00000442339.2_Intron|CAPS2_ENST00000409004.1_5'UTR|CAPS2_ENST00000409799.1_Nonsense_Mutation_p.R272*|CAPS2_ENST00000409445.3_Nonsense_Mutation_p.R354*	p.R122*			Q9BXY5	CAYP2_HUMAN			11	965	-			354					Q6PH84|Q8N242|Q8NAY5	Nonsense_Mutation	SNP	ENST00000409445.3	37	c.364C>T	CCDS9008.2	.	.	.	.	.	.	.	.	.	.	G	38	6.815581	0.97861	.	.	ENSG00000180881	ENST00000409799;ENST00000409445;ENST00000378703;ENST00000393284	.	.	.	5.49	4.59	0.56863	.	0.386973	0.22483	N	0.059473	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.341	15.7485	0.77965	0.0:0.0:0.8626:0.1374	.	.	.	.	X	272;354;90;122	.	ENSP00000367975:R90X	R	-	1	2	CAPS2	73978775	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	3.631000	0.54280	1.307000	0.44944	0.542000	0.68232	CGA		0.353	CAPS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000327880.2			13	28	0	0	0	1	0	13	28				
TMTC4	84899	broad.mit.edu	37	13	101294549	101294549	+	Silent	SNP	C	C	T	rs373303346		TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr13:101294549C>T	ENST00000376234.3	-	6	789	c.600G>A	c.(598-600)gcG>gcA	p.A200A	TMTC4_ENST00000342624.5_Silent_p.A219A|TMTC4_ENST00000462211.1_5'UTR|TMTC4_ENST00000328767.5_Silent_p.A89A	NM_001079669.1	NP_001073137.1	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4	200						integral component of membrane (GO:0016021)				breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TGGAAGAATGCGCTCCCTCCT	0.468																																						ENST00000342624.5																			0				breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(655-657)gcG>gcA		transmembrane and tetratricopeptide repeat containing 4		C	,	0,4114		0,0,2057	125.0	135.0	132.0		600,657	-11.4	0.0	13		132	3,8373		0,3,4185	no	coding-synonymous,coding-synonymous	TMTC4	NM_001079669.1,NM_032813.2	,	0,3,6242	TT,TC,CC		0.0358,0.0,0.024	,	200/742,219/761	101294549	3,12487	2057	4188	6245	SO:0001819	synonymous_variant	84899					integral to membrane	binding	g.chr13:101294549C>T		CCDS9497.2, CCDS41904.1, CCDS66575.1	13q32.3	2013-01-10	2006-01-06		ENSG00000125247	ENSG00000125247		"""Tetratricopeptide (TTC) repeat domain containing"""	25904	protein-coding gene	gene with protein product							Standard	XM_005254082		Approved	FLJ14624, FLJ22153	uc001vot.3	Q5T4D3	OTTHUMG00000017289	ENST00000376234.3:c.600G>A	13.37:g.101294549C>T						TMTC4_ENST00000462211.1_5'UTR|TMTC4_ENST00000328767.5_Silent_p.A89A|TMTC4_ENST00000376234.3_Silent_p.A200A	p.A219A	NM_032813.2	NP_116202.2	Q5T4D3	TMTC4_HUMAN			7	915	-	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		200					A6NLI7|B7Z666|Q5T4D4|Q5T4D5|Q5T4D6|Q8WV63|Q96SU8	Silent	SNP	ENST00000376234.3	37	c.657G>A	CCDS41904.1																																																																																				0.468	TMTC4-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045649.2	NM_032813		49	108	0	0	0	1	0	49	108				
SIRPD	128646	broad.mit.edu	37	20	1517874	1517874	+	Silent	SNP	C	C	T			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr20:1517874C>T	ENST00000381623.3	-	3	1693	c.504G>A	c.(502-504)tcG>tcA	p.S168S	SIRPD_ENST00000381621.1_Silent_p.S169S			Q9H106	SIRPD_HUMAN	signal-regulatory protein delta	168						extracellular region (GO:0005576)				breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)	15						CAGGCAGGGCCGAGAGGCAGG	0.592																																						ENST00000381623.3																			0				breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)	15						c.(502-504)tcG>tcA		signal-regulatory protein delta							138.0	124.0	129.0					20																	1517874		2203	4300	6503	SO:0001819	synonymous_variant	128646					extracellular region		g.chr20:1517874C>T	AL049634	CCDS13018.1	20p13	2013-01-11	2006-02-03	2006-02-03	ENSG00000125900	ENSG00000125900		"""Signal-regulatory proteins"", ""Immunoglobulin superfamily / V-set domain containing"""	16248	protein-coding gene	gene with protein product			"""protein tyrosine phosphatase, non-receptor type substrate 1-like 2"""	PTPNS1L2		16339511	Standard	NM_178460		Approved	dJ576H24.4	uc002wfi.3	Q9H106	OTTHUMG00000031674	ENST00000381623.3:c.504G>A	20.37:g.1517874C>T						SIRPD_ENST00000381621.1_Silent_p.S169S	p.S168S			Q9H106	SIRPD_HUMAN			3	1693	-			168					B3KS88|Q5TFQ6	Silent	SNP	ENST00000381623.3	37	c.504G>A	CCDS13018.1	.	.	.	.	.	.	.	.	.	.	C	3.696	-0.062544	0.07273	.	.	ENSG00000125900	ENST00000429387	.	.	.	2.97	-5.94	0.02247	.	.	.	.	.	T	0.15998	0.0385	.	.	.	0.09310	N	0.999996	.	.	.	.	.	.	T	0.23440	-1.0188	4	.	.	.	.	1.3117	0.02099	0.3149:0.1136:0.3794:0.1921	.	.	.	.	Q	51	.	.	R	-	2	0	SIRPD	1465874	0.000000	0.05858	0.000000	0.03702	0.046000	0.14306	-0.656000	0.05342	-1.371000	0.02141	-0.440000	0.05779	CGG		0.592	SIRPD-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077552.1	NM_178460		60	104	0	0	0	1	0	60	104				
SIM1	6492	broad.mit.edu	37	6	100898211	100898211	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr6:100898211C>T	ENST00000369208.3	-	4	1062	c.280G>A	c.(280-282)Gtg>Atg	p.V94M	SIM1_ENST00000262901.4_Missense_Mutation_p.V94M			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	94	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GGGGCTACCACGAAGATGAAG	0.527																																						ENST00000369208.3																			0				breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79						c.(280-282)Gtg>Atg		single-minded family bHLH transcription factor 1							143.0	131.0	135.0					6																	100898211		2203	4300	6503	SO:0001583	missense	6492				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr6:100898211C>T	U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"""Basic helix-loop-helix proteins"""	10882	protein-coding gene	gene with protein product		603128	"""single-minded (Drosophila) homolog 1"", ""single-minded homolog 1 (Drosophila)"""			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.280G>A	6.37:g.100898211C>T	ENSP00000358210:p.Val94Met					SIM1_ENST00000262901.4_Missense_Mutation_p.V94M	p.V94M			P81133	SIM1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0774)	4	1062	-		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)	94			PAS 1.		Q5TDP7	Missense_Mutation	SNP	ENST00000369208.3	37	c.280G>A	CCDS5045.1	.	.	.	.	.	.	.	.	.	.	C	30	5.053087	0.93793	.	.	ENSG00000112246	ENST00000369208;ENST00000262901	T;T	0.20738	2.05;2.05	4.99	4.99	0.66335	PAS (2);PAS fold (1);	0.000000	0.85682	D	0.000000	T	0.48241	0.1489	M	0.88570	2.965	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.60281	-0.7294	10	0.87932	D	0	.	18.2737	0.90076	0.0:1.0:0.0:0.0	.	94	P81133	SIM1_HUMAN	M	94	ENSP00000358210:V94M;ENSP00000262901:V94M	ENSP00000262901:V94M	V	-	1	0	SIM1	101004932	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.463000	0.80869	2.326000	0.78906	0.561000	0.74099	GTG		0.527	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041628.3	NM_005068		59	114	0	0	0	1	0	59	114				
JAZF1	221895	broad.mit.edu	37	7	27880482	27880482	+	Silent	SNP	G	G	A	rs142184731		TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr7:27880482G>A	ENST00000283928.5	-	4	555	c.390C>T	c.(388-390)agC>agT	p.S130S	JAZF1_ENST00000466516.1_5'UTR	NM_175061.3	NP_778231.2	Q86VZ6	JAZF1_HUMAN	JAZF zinc finger 1	130		Breakpoint for translocation to form JAZF1-SUZ12 oncogene.			negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|transcription corepressor activity (GO:0003714)		JAZF1/SUZ12(133)	endometrium(1)|large_intestine(1)|lung(4)	6						CGTCATACTCGCTGCCTGCAG	0.592			T	SUZ12	endometrial stromal tumours																																	ENST00000283928.5				Dom	yes		7	7p15.2-p15.1	221895	T	juxtaposed with another zinc finger gene 1			M	SUZ12		endometrial stromal tumours	JAZF1/SUZ12(133)	0				endometrium(1)|large_intestine(1)|lung(4)	6						c.(388-390)agC>agT		JAZF zinc finger 1		G		1,4405	2.1+/-5.4	0,1,2202	132.0	101.0	111.0		390	-7.1	0.2	7	dbSNP_134	111	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	JAZF1	NM_175061.3		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		130/244	27880482	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	221895				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcriptional repressor complex	nucleic acid binding|transcription corepressor activity|zinc ion binding	g.chr7:27880482G>A	BC047229	CCDS5416.1	7p15.2-p15.1	2010-04-14			ENSG00000153814	ENSG00000153814		"""Zinc fingers, C2H2-type"""	28917	protein-coding gene	gene with protein product		606246				8401585	Standard	XM_006715656		Approved	TIP27, DKFZp761K2222, ZNF802	uc003szn.3	Q86VZ6	OTTHUMG00000128545	ENST00000283928.5:c.390C>T	7.37:g.27880482G>A						TAX1BP1_ENST00000488564.1_3'UTR|JAZF1_ENST00000466516.1_5'UTR	p.S130S	NM_175061.3	NP_778231.2	Q86VZ6	JAZF1_HUMAN			4	555	-			130				Breakpoint for translocation to form JAZF1-SUZ12 oncogene.	A4D195|Q8N3L7	Silent	SNP	ENST00000283928.5	37	c.390C>T	CCDS5416.1	.	.	.	.	.	.	.	.	.	.	G	0.058	-1.230493	0.01518	2.27E-4	1.16E-4	ENSG00000153814	ENST00000427814	.	.	.	5.85	-7.14	0.01527	.	.	.	.	.	T	0.61627	0.2362	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.65990	-0.6034	4	.	.	.	-0.3516	14.717	0.69277	0.6726:0.0769:0.2505:0.0	.	.	.	.	V	117	.	.	A	-	2	0	JAZF1	27847007	0.001000	0.12720	0.245000	0.24217	0.043000	0.13939	-1.538000	0.02204	-2.159000	0.00787	-2.578000	0.00169	GCG		0.592	JAZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250382.2	NM_175061		4	113	0	0	0	1	0	4	113				
CNGB1	1258	broad.mit.edu	37	16	57918281	57918281	+	Silent	SNP	G	G	A	rs375919369		TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr16:57918281G>A	ENST00000251102.8	-	33	3603	c.3543C>T	c.(3541-3543)acC>acT	p.T1181T	CNGB1_ENST00000564448.1_Silent_p.T1175T	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	1181					cation transport (GO:0006812)|cytosolic calcium ion homeostasis (GO:0051480)|detection of light stimulus involved in visual perception (GO:0050908)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|protein heterotetramerization (GO:0051290)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina homeostasis (GO:0001895)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of smell (GO:0007608)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|intracellular cyclic nucleotide activated cation channel complex (GO:0017071)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|transmembrane transporter complex (GO:1902495)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						CGGGTGGGTCGGTGGCGGCCT	0.716																																					Colon(156;1293 1853 16336 28962 38659)	ENST00000564448.1																			0				breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						c.(3523-3525)acC>acT		cyclic nucleotide gated channel beta 1		G		0,3816		0,0,1908	15.0	17.0	17.0		3543	-4.9	0.0	16		17	1,8141		0,1,4070	no	coding-synonymous	CNGB1	NM_001297.4		0,1,5978	AA,AG,GG		0.0123,0.0,0.0084		1181/1252	57918281	1,11957	1908	4071	5979	SO:0001819	synonymous_variant	1258				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	g.chr16:57918281G>A	AF042498	CCDS42169.1, CCDS45495.1, CCDS67042.1	16q13	2013-02-14			ENSG00000070729	ENSG00000070729		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2151	protein-coding gene	gene with protein product	"""glutamic acid-rich protein"""	600724		CNCG2, CNCG3L		8766832, 7590744, 16382102	Standard	NM_001297		Approved	RCNC2, RCNCb, GARP, GAR1, CNGB1B, RP45	uc002emt.2	Q14028	OTTHUMG00000154810	ENST00000251102.8:c.3543C>T	16.37:g.57918281G>A						CNGB1_ENST00000251102.8_Silent_p.T1181T	p.T1175T			Q14028	CNGB1_HUMAN			33	3585	-			1181					H3BN09|O43636|Q13059|Q14029|Q9UMG2	Silent	SNP	ENST00000251102.8	37	c.3525C>T	CCDS42169.1																																																																																				0.716	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337167.2	NM_001297		7	59	0	0	0	1	0	7	59				
NAB2	4665	broad.mit.edu	37	12	57487287	57487287	+	Silent	SNP	A	A	G			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr12:57487287A>G	ENST00000300131.3	+	6	1752	c.1374A>G	c.(1372-1374)acA>acG	p.T458T	NAB2_ENST00000342556.6_Intron|NAB2_ENST00000357680.4_3'UTR	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN	NGFI-A binding protein 2 (EGR1 binding protein 2)	458					cell proliferation (GO:0008283)|endochondral ossification (GO:0001958)|myelination (GO:0042552)|negative regulation of transcription from RNA polymerase III promoter (GO:0016480)|nervous system development (GO:0007399)|regulation of epidermis development (GO:0045682)|Schwann cell differentiation (GO:0014037)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						TGCAGCAGACACTGATGGACG	0.687																																						ENST00000300131.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(1372-1374)acA>acG		NGFI-A binding protein 2 (EGR1 binding protein 2)							11.0	12.0	11.0					12																	57487287		2157	4227	6384	SO:0001819	synonymous_variant	4665				cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity	g.chr12:57487287A>G	BC065931	CCDS8930.1	12q13.3	2008-05-14				ENSG00000166886			7627	protein-coding gene	gene with protein product		602381				8668170, 8649813	Standard	XM_005268894		Approved	MADER	uc001smz.3	Q15742		ENST00000300131.3:c.1374A>G	12.37:g.57487287A>G						NAB2_ENST00000342556.6_Intron|NAB2_ENST00000357680.4_3'UTR	p.T458T	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN			6	1752	+			458					B2RAK3|O76006|Q14797	Silent	SNP	ENST00000300131.3	37	c.1374A>G	CCDS8930.1																																																																																				0.687	NAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412222.1	NM_005967		6	8	0	0	0	1	0	6	8				
UBBP4	23666	broad.mit.edu	37	17	21730916	21730916	+	Missense_Mutation	SNP	G	G	T	rs111245273	byFrequency	TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr17:21730916G>T	ENST00000578713.1	+	1	222	c.218G>T	c.(217-219)cGg>cTg	p.R73L	UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000584755.1_Missense_Mutation_p.R73L					ubiquitin B pseudogene 4									p.R73L(24)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GTCCTGCGTCGGAGAGGTGGT	0.552													.|||	27	0.00539137	0.0182	0.0029	5008	,	,		20752	0.0		0.0	False		,,,				2504	0.001					ENST00000584755.1																			24	Substitution - Missense(24)	p.R73L(24)	kidney(9)|urinary_tract(6)|endometrium(6)|prostate(3)	endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						c.(217-219)cGg>cTg																																						SO:0001583	missense	0							g.chr17:21730916G>T	X07499		17p11.2	2011-08-10				ENSG00000263563			12467	pseudogene	pseudogene						2834222	Standard	NG_002285		Approved		uc002gyy.3			ENST00000578713.1:c.218G>T	17.37:g.21730916G>T	ENSP00000464265:p.Arg73Leu					UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000578713.1_Missense_Mutation_p.R73L|UBBP4_ENST00000583708.1_Intron	p.R73L							2	615	+									Missense_Mutation	SNP	ENST00000578713.1	37	c.218G>T																																																																																					0.552	UBBP4-004	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444589.2			4	105	1	0	0.184627	1	0.184627	4	105				
CRLF2	64109	broad.mit.edu	37	X	1317467	1317467	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chrX:1317467G>T	ENST00000381567.3	-	5	597	c.598C>A	c.(598-600)Cca>Aca	p.P200T	CRLF2_ENST00000467626.1_Intron	NM_022148.2	NP_071431.2	Q9HC73	CRLF2_HUMAN	cytokine receptor-like factor 2	200	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				immunoglobulin secretion involved in immune response (GO:0002380)|inflammatory response (GO:0006954)|T-helper 2 cell cytokine production (GO:0035745)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|lung(9)	20		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				CAGTCGCTTGGGTATGTGTCT	0.532			"""Mis, T"""	"""P2RY8, IGH@"""	"""B-ALL, Downs associated ALL"""																																	ENST00000381567.3				Dom	yes		"""X,Y"""	Xp22.3; Yp11.3	64109	"""Mis, T"""	cytokine receptor-like factor 2			L	"""P2RY8, IGH@"""		"""B-ALL, Downs associated ALL"""		0				endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|lung(9)	20						c.(598-600)Cca>Aca		cytokine receptor-like factor 2							417.0	439.0	431.0					X																	1317467		2109	4210	6319	SO:0001583	missense	64109					extracellular region|integral to membrane|plasma membrane	receptor activity	g.chrX:1317467G>T	AF142570	CCDS75944.1, CCDS75945.1	Xp22.3 and Yp11.3	2011-10-07			ENSG00000205755	ENSG00000205755		"""Pseudoautosomal regions / PAR1"""	14281	protein-coding gene	gene with protein product		300357, 400023				11237741, 11474172	Standard	NM_022148		Approved	CRL2, TSLPR	uc004cpk.2	Q9HC73	OTTHUMG00000067432	ENST00000381567.3:c.598C>A	X.37:g.1317467G>T	ENSP00000370979:p.Pro200Thr					CRLF2_ENST00000467626.1_Intron	p.P200T	NM_022148.2	NP_071431.2	Q9HC73	CRLF2_HUMAN			5	597	-		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)	200			Fibronectin type-III.		Q9H5R3	Missense_Mutation	SNP	ENST00000381567.3	37	c.598C>A		.	.	.	.	.	.	.	.	.	.	g	9.379	1.072425	0.20147	.	.	ENSG00000205755	ENST00000381567;ENST00000400841	T;T	0.68765	-0.35;-0.35	1.88	1.88	0.25563	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.290655	0.30177	U	0.010240	T	0.77068	0.4076	.	.	.	0.09310	N	1	D	0.89917	1.0	D	0.75484	0.986	T	0.66060	-0.6017	9	0.72032	D	0.01	-8.1266	9.4951	0.38984	0.0:0.0:1.0:0.0	.	200	Q9HC73	CRLF2_HUMAN	T	200	ENSP00000370979:P200T;ENSP00000383641:P200T	ENSP00000370979:P200T	P	-	1	0	CRLF2	1277467	0.638000	0.27225	0.033000	0.17914	0.016000	0.09150	2.312000	0.43726	0.744000	0.32741	0.360000	0.22052	CCA		0.532	CRLF2-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_022148		67	103	1	0	1.46168e-27	1	1.53761e-27	67	103				
EFTUD2	9343	broad.mit.edu	37	17	42949920	42949920	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr17:42949920C>A	ENST00000426333.2	-	11	1185	c.888G>T	c.(886-888)gaG>gaT	p.E296D	EFTUD2_ENST00000591382.1_Missense_Mutation_p.E296D|EFTUD2_ENST00000402521.3_Missense_Mutation_p.E261D|EFTUD2_ENST00000592576.1_Missense_Mutation_p.E286D	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	296	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				GGATCAGGTTCTCATCAGTGG	0.562																																					Ovarian(10;65 485 10258 29980 30707)	ENST00000426333.2																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32						c.(886-888)gaG>gaT		elongation factor Tu GTP binding domain containing 2							168.0	144.0	152.0					17																	42949920		2203	4300	6503	SO:0001583	missense	9343					Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding	g.chr17:42949920C>A	D21163	CCDS11489.1, CCDS45707.1, CCDS59295.1	17q21.31	2014-08-12			ENSG00000108883	ENSG00000108883			30858	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 116 kD"""	603892				9233818	Standard	NM_004247		Approved	U5-116KD, Snrp116, Snu114, SNRNP116	uc002ihn.2	Q15029	OTTHUMG00000179865	ENST00000426333.2:c.888G>T	17.37:g.42949920C>A	ENSP00000392094:p.Glu296Asp					EFTUD2_ENST00000591382.1_Missense_Mutation_p.E296D|EFTUD2_ENST00000592576.1_Missense_Mutation_p.E286D|EFTUD2_ENST00000402521.3_Missense_Mutation_p.E261D	p.E296D	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN			11	1185	-		Prostate(33;0.109)	296					B4DK30|B4DMC0|D3DX58|K7EJ81|Q9BUR0	Missense_Mutation	SNP	ENST00000426333.2	37	c.888G>T	CCDS11489.1	.	.	.	.	.	.	.	.	.	.	C	17.21	3.330993	0.60853	.	.	ENSG00000108883	ENST00000426333;ENST00000262414;ENST00000402521	T;T	0.76839	-1.05;-1.05	5.94	5.94	0.96194	Protein synthesis factor, GTP-binding (1);	0.000000	0.85682	D	0.000000	T	0.65903	0.2736	N	0.16903	0.455	0.80722	D	1	B;B	0.09022	0.002;0.002	B;B	0.15484	0.013;0.013	T	0.60219	-0.7306	10	0.12766	T	0.61	0.0747	20.3736	0.98901	0.0:1.0:0.0:0.0	.	286;296	B4DMC0;Q15029	.;U5S1_HUMAN	D	296;286;261	ENSP00000392094:E296D;ENSP00000385873:E261D	ENSP00000262414:E286D	E	-	3	2	EFTUD2	40305446	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.820000	0.97059	0.650000	0.86243	GAG		0.562	EFTUD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448672.1	NM_004247		94	145	1	0	9.15355e-43	1	9.75576e-43	94	145				
ALS2	57679	broad.mit.edu	37	2	202619251	202619251	+	Silent	SNP	G	G	A			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr2:202619251G>A	ENST00000264276.6	-	6	1987	c.1615C>T	c.(1615-1617)Ctg>Ttg	p.L539L		NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	539					behavioral fear response (GO:0001662)|cell death (GO:0008219)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|locomotory behavior (GO:0007626)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Rab GTPase activity (GO:0032851)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of Ran GTPase activity (GO:0032853)|protein localization (GO:0008104)|receptor recycling (GO:0001881)|regulation of endosome size (GO:0051036)|response to oxidative stress (GO:0006979)|synaptic transmission, glutamatergic (GO:0035249)|vesicle organization (GO:0016050)	centrosome (GO:0005813)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome (GO:0005769)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|ruffle (GO:0001726)|vesicle (GO:0031982)	protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						CCGTGCCCCAGCTGCCCTTCC	0.517																																						ENST00000264276.6																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						c.(1615-1617)Ctg>Ttg		amyotrophic lateral sclerosis 2 (juvenile)							114.0	117.0	116.0					2																	202619251		1973	4150	6123	SO:0001819	synonymous_variant	57679				cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity	g.chr2:202619251G>A	AB053305	CCDS42800.1, CCDS46492.1	2q33-q35	2014-09-17	2004-06-23		ENSG00000003393	ENSG00000003393		"""Rho guanine nucleotide exchange factors"""	443	protein-coding gene	gene with protein product	"""alsin"""	606352	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 6"""	ALS2CR6		11586298	Standard	NM_020919		Approved		uc002uyo.3	Q96Q42	OTTHUMG00000154507	ENST00000264276.6:c.1615C>T	2.37:g.202619251G>A							p.L539L	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN			6	1987	-			539					Q53TT1|Q53TV2|Q8N1E0|Q96PC4|Q96Q41|Q9H973|Q9HCK9	Silent	SNP	ENST00000264276.6	37	c.1615C>T	CCDS42800.1																																																																																				0.517	ALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335562.3	NM_020919		11	128	0	0	0	1	0	11	128				
WBSCR16	81554	broad.mit.edu	37	7	74486566	74486566	+	Silent	SNP	G	G	A			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr7:74486566G>A	ENST00000329959.4	-	2	397	c.342C>T	c.(340-342)tgC>tgT	p.C114C	WBSCR16_ENST00000543840.1_Silent_p.C114C|WBSCR16_ENST00000503250.2_Silent_p.C114C	NM_030798.3	NP_110425.2	Q96I51	WBS16_HUMAN	Williams-Beuren syndrome chromosome region 16	114							poly(A) RNA binding (GO:0044822)			kidney(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						ATCCATAGCCGCAAGCAGCAG	0.423																																						ENST00000503250.2																			0				kidney(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						c.(340-342)tgC>tgT		Williams-Beuren syndrome chromosome region 16							100.0	95.0	97.0					7																	74486566		2203	4300	6503	SO:0001819	synonymous_variant	81554							g.chr7:74486566G>A	AF410455	CCDS5577.1, CCDS64683.1, CCDS64684.1	7q11.23	2008-08-14			ENSG00000174374	ENSG00000274523			14948	protein-coding gene	gene with protein product						12073013	Standard	NM_030798		Approved		uc003ubr.3	Q96I51	OTTHUMG00000130373	ENST00000329959.4:c.342C>T	7.37:g.74486566G>A						WBSCR16_ENST00000543840.1_Silent_p.C114C|WBSCR16_ENST00000329959.4_Silent_p.C114C	p.C114C			Q96I51	WBS16_HUMAN			2	411	-			114					D3DXK0|F5GX55|F5H6C7|Q548B1|Q8IW88|Q8N572|Q9H0G7	Silent	SNP	ENST00000329959.4	37	c.342C>T	CCDS5577.1																																																																																				0.423	WBSCR16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252740.1	NM_030798		4	115	0	0	0	1	0	4	115				
SREBF1	6720	broad.mit.edu	37	17	17717650	17717650	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr17:17717650G>C	ENST00000261646.5	-	16	2994	c.2810C>G	c.(2809-2811)tCt>tGt	p.S937C	SREBF1_ENST00000395757.1_Missense_Mutation_p.S683C|SREBF1_ENST00000338854.5_Missense_Mutation_p.S937C|MIR33B_ENST00000385104.1_RNA|SREBF1_ENST00000355815.4_Missense_Mutation_p.S967C	NM_004176.4	NP_004167.3	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1	937					aging (GO:0007568)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|cellular response to starvation (GO:0009267)|cholesterol metabolic process (GO:0008203)|circadian rhythm (GO:0007623)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|negative regulation of insulin secretion (GO:0046676)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of fatty acid metabolic process (GO:0019217)|regulation of heart rate by chemical signal (GO:0003062)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|response to food (GO:0032094)|response to glucagon (GO:0033762)|response to glucose (GO:0009749)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|sterol response element binding (GO:0032810)			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						GGCTGGACCAGACTCTGCCTT	0.642																																						ENST00000355815.4																			0				cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						c.(2899-2901)tCt>tGt		sterol regulatory element binding transcription factor 1							23.0	18.0	20.0					17																	17717650		2189	4289	6478	SO:0001583	missense	6720				cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus	protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding	g.chr17:17717650G>C	BC057388	CCDS11189.1, CCDS32583.1	17p11.2	2013-05-21			ENSG00000072310	ENSG00000072310		"""Basic helix-loop-helix proteins"""	11289	protein-coding gene	gene with protein product		184756				8402897, 7759101	Standard	NM_001005291		Approved	SREBP1, bHLHd1, SREBP-1c	uc002grt.2	P36956	OTTHUMG00000059313	ENST00000261646.5:c.2810C>G	17.37:g.17717650G>C	ENSP00000261646:p.Ser937Cys					SREBF1_ENST00000261646.5_Missense_Mutation_p.S937C|SREBF1_ENST00000338854.5_Missense_Mutation_p.S937C|SREBF1_ENST00000395757.1_Missense_Mutation_p.S683C	p.S967C	NM_001005291.2	NP_001005291.1	P36956	SRBP1_HUMAN			17	3069	-			937					B0I4X3|B0I4X4|D3DXC4|Q16062|Q59F52|Q6P4R7|Q6PFW7|Q6PJ36|Q8TAK9	Missense_Mutation	SNP	ENST00000261646.5	37	c.2900C>G	CCDS11189.1	.	.	.	.	.	.	.	.	.	.	G	15.87	2.960797	0.53400	.	.	ENSG00000072310	ENST00000338854;ENST00000355815;ENST00000261646;ENST00000395757;ENST00000395756;ENST00000418712;ENST00000423161	T;T;T;T	0.18016	2.24;2.24;2.24;2.24	4.57	3.6	0.41247	.	0.412865	0.26457	N	0.024279	T	0.31327	0.0793	M	0.68593	2.085	0.19575	N	0.999964	B;D;D	0.69078	0.002;0.997;0.995	B;P;P	0.60789	0.003;0.818;0.879	T	0.03969	-1.0988	10	0.72032	D	0.01	-4.9006	7.9956	0.30267	0.0918:0.1658:0.7424:0.0	.	937;967;556	P36956;P36956-4;A8MTU8	SRBP1_HUMAN;.;.	C	937;967;937;683;556;774;863	ENSP00000345822:S937C;ENSP00000348069:S967C;ENSP00000261646:S937C;ENSP00000379106:S683C	ENSP00000261646:S937C	S	-	2	0	SREBF1	17658375	0.087000	0.21565	0.032000	0.17829	0.959000	0.62525	2.855000	0.48333	2.544000	0.85801	0.555000	0.69702	TCT		0.642	SREBF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131771.1	NM_004176		6	5	0	0	0	1	0	6	5				
GRM7	2917	broad.mit.edu	37	3	7503380	7503380	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr3:7503380G>A	ENST00000357716.4	+	7	1760	c.1486G>A	c.(1486-1488)Ggg>Agg	p.G496R	GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000402647.2_Missense_Mutation_p.G496R|GRM7_ENST00000403881.1_Missense_Mutation_p.G496R|GRM7_ENST00000389336.4_Missense_Mutation_p.G496R|GRM7_ENST00000486284.1_Missense_Mutation_p.G496R	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	496					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|adult behavior (GO:0030534)|conditioned taste aversion (GO:0001661)|multicellular organismal response to stress (GO:0033555)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of glutamate secretion (GO:0014050)|regulation of cyclase activity (GO:0031279)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|short-term memory (GO:0007614)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	adenylate cyclase inhibitor activity (GO:0010855)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|glutamate binding (GO:0016595)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|PDZ domain binding (GO:0030165)|serine binding (GO:0070905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						CCGTCTGATCGGGCAGTGGAC	0.468																																						ENST00000486284.1																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						c.(1486-1488)Ggg>Agg		glutamate receptor, metabotropic 7	L-Glutamic Acid(DB00142)						156.0	144.0	148.0					3																	7503380		2203	4300	6503	SO:0001583	missense	2917				negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding	g.chr3:7503380G>A	U92458	CCDS43042.1	3p26-p25	2014-06-12			ENSG00000196277	ENSG00000196277		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4599	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 87"""	604101				8288585, 8840028	Standard	NM_000844		Approved	GLUR7, GPRC1G, mGlu7, MGLUR7, PPP1R87	uc003bql.2	Q14831	OTTHUMG00000125549	ENST00000357716.4:c.1486G>A	3.37:g.7503380G>A	ENSP00000350348:p.Gly496Arg					GRM7_ENST00000403881.1_Missense_Mutation_p.G496R|GRM7_ENST00000357716.4_Missense_Mutation_p.G496R|GRM7_ENST00000389336.4_Missense_Mutation_p.G496R|GRM7_ENST00000402647.2_Missense_Mutation_p.G496R|GRM7_ENST00000458641.2_3'UTR	p.G496R	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN			7	1760	+			496					Q8NFS2|Q8NFS3|Q8NFS4	Missense_Mutation	SNP	ENST00000357716.4	37	c.1486G>A	CCDS43042.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.983214	0.93044	.	.	ENSG00000196277	ENST00000357716;ENST00000486284;ENST00000389336;ENST00000403881;ENST00000525747;ENST00000402647;ENST00000413492;ENST00000445087	D;D;D;D;D;D	0.95447	-3.71;-3.71;-3.71;-3.71;-3.71;-3.71	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.97763	0.9266	M	0.81341	2.54	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.967	D	0.98221	1.0478	10	0.87932	D	0	.	18.4043	0.90528	0.0:0.0:1.0:0.0	.	496;251;496;496	Q14831-5;Q59G95;Q14831;Q14831-2	.;.;GRM7_HUMAN;.	R	496;496;496;496;496;496;496;153	ENSP00000350348:G496R;ENSP00000417536:G496R;ENSP00000373987:G496R;ENSP00000385664:G496R;ENSP00000384585:G496R;ENSP00000395035:G153R	ENSP00000350348:G496R	G	+	1	0	GRM7	7478380	1.000000	0.71417	0.999000	0.59377	0.941000	0.58515	9.813000	0.99286	2.779000	0.95612	0.655000	0.94253	GGG		0.468	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246895.3	NM_000844		66	106	0	0	0	1	0	66	106				
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr17:7577121G>A	ENST00000269305.4	-	8	1006	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000420246.2_Missense_Mutation_p.R273C|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C	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	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)	GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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"""		533	Substitution - Missense(506)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)|Complex(2)	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	central_nervous_system(117)|large_intestine(108)|ovary(32)|haematopoietic_and_lymphoid_tissue(31)|upper_aerodigestive_tract(30)|stomach(25)|urinary_tract(23)|lung(21)|breast(21)|liver(20)|endometrium(17)|oesophagus(17)|bone(16)|pancreas(15)|prostate(8)|skin(7)|cervix(6)|biliary_tract(6)|kidney(3)|thyroid(3)|vulva(2)|genital_tract(1)|penis(1)|adrenal_gland(1)|salivary_gland(1)|small_intestine(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	CM010471|CM010473|CM951233	TP53	M	rs121913343	c.(817-819)Cgt>Tgt	Other conserved DNA damage response genes	tumor protein p53							65.0	56.0	59.0					17																	7577121		2203	4300	6503	SO:0001583	missense	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.chr17:7577121G>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.817C>T	17.37:g.7577121G>A	ENSP00000269305:p.Arg273Cys	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_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron	p.R273C	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	949	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	273		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|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	Missense_Mutation	SNP	ENST00000269305.4	37	c.817C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400216	0.62177	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.92	3.95	0.45737	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99851	0.9931	M	0.90759	3.145	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.999;0.996	D	0.96877	0.9643	10	0.87932	D	0	-11.9995	11.2235	0.48869	0.0895:0.0:0.9105:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	C	273;273;273;273;273;262;141	ENSP00000352610:R273C;ENSP00000269305:R273C;ENSP00000398846:R273C;ENSP00000391127:R273C;ENSP00000391478:R273C;ENSP00000425104:R141C	ENSP00000269305:R273C	R	-	1	0	TP53	7517846	1.000000	0.71417	0.066000	0.19879	0.723000	0.41478	4.540000	0.60664	1.299000	0.44798	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		14	26	0	0	0	1	0	14	26				
SSH2	85464	broad.mit.edu	37	17	27975227	27975227	+	Silent	SNP	C	C	T	rs371829849		TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr17:27975227C>T	ENST00000269033.3	-	13	1432	c.1281G>A	c.(1279-1281)acG>acA	p.T427T	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Silent_p.T454T|RP11-68I3.11_ENST00000582881.1_RNA	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	427	Tyrosine-protein phosphatase.				actin cytoskeleton organization (GO:0030036)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GCTTGGTTACCGTTCGTCTTT	0.502																																						ENST00000269033.3																		SSH2/SUZ12(2)	0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1279-1281)acG>acA		slingshot protein phosphatase 2		C		0,4406		0,0,2203	170.0	160.0	164.0		1281	-9.3	0.8	17		164	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SSH2	NM_033389.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		427/1424	27975227	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	85464				actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr17:27975227C>T	AB072359	CCDS11253.1, CCDS74024.1	17q11.2	2013-03-05	2013-03-05		ENSG00000141298	ENSG00000141298		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30580	protein-coding gene	gene with protein product		606779	"""slingshot homolog 2 (Drosophila)"""			11832213, 11214970	Standard	XM_005258059		Approved	KIAA1725	uc002heo.1	Q76I76	OTTHUMG00000132752	ENST00000269033.3:c.1281G>A	17.37:g.27975227C>T						RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Silent_p.T454T	p.T427T	NM_033389.2	NP_203747.2	Q76I76	SSH2_HUMAN			13	1432	-			427			Tyrosine-protein phosphatase.		Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Silent	SNP	ENST00000269033.3	37	c.1281G>A	CCDS11253.1																																																																																				0.502	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256116.1	NM_033389		4	113	0	0	0	1	0	4	113				
KRT37	8688	broad.mit.edu	37	17	39579137	39579137	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr17:39579137C>T	ENST00000225550.3	-	3	624	c.625G>A	c.(625-627)Ggg>Agg	p.G209R	AC003958.2_ENST00000432258.1_RNA	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN	keratin 37	209	Coil 1B.|Rod.					extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				TTCTGCGTCCCGCACTTGTCC	0.627																																						ENST00000225550.3																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25						c.(625-627)Ggg>Agg		keratin 37							79.0	70.0	73.0					17																	39579137		2203	4300	6503	SO:0001583	missense	8688					intermediate filament	structural molecule activity	g.chr17:39579137C>T	Y16793	CCDS32653.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000108417	ENSG00000108417		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6455	protein-coding gene	gene with protein product		604541	"""keratin, hair, acidic, 7"""	KRTHA7		9756910, 16831889	Standard	NM_003770		Approved		uc002hwp.1	O76014	OTTHUMG00000133606	ENST00000225550.3:c.625G>A	17.37:g.39579137C>T	ENSP00000225550:p.Gly209Arg					AC003958.2_ENST00000432258.1_RNA	p.G209R	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN			3	624	-		Breast(137;0.000496)	209			Coil 1B.|Rod.			Missense_Mutation	SNP	ENST00000225550.3	37	c.625G>A	CCDS32653.1	.	.	.	.	.	.	.	.	.	.	.	14.55	2.567558	0.45694	.	.	ENSG00000108417	ENST00000225550	D	0.89123	-2.47	4.78	2.73	0.32206	Filament (1);	0.000000	0.47455	D	0.000228	D	0.94361	0.8187	M	0.91354	3.2	0.40529	D	0.98091	D	0.89917	1.0	D	0.74023	0.982	D	0.93328	0.6698	10	0.87932	D	0	.	8.4609	0.32927	0.1536:0.764:0.0:0.0825	.	209	O76014	KRT37_HUMAN	R	209	ENSP00000225550:G209R	ENSP00000225550:G209R	G	-	1	0	KRT37	36832663	0.324000	0.24652	0.081000	0.20488	0.042000	0.13812	0.979000	0.29500	0.423000	0.26033	0.655000	0.94253	GGG		0.627	KRT37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257714.2	NM_003770		4	140	0	0	0	1	0	4	140				
G6PC	2538	broad.mit.edu	37	17	41063361	41063361	+	Missense_Mutation	SNP	C	C	T	rs149486847	byFrequency	TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr17:41063361C>T	ENST00000253801.2	+	5	1071	c.992C>T	c.(991-993)gCg>gTg	p.A331V	G6PC_ENST00000585489.1_3'UTR	NM_000151.3	NP_000142.2	P35575	G6PC_HUMAN	glucose-6-phosphatase, catalytic subunit	331					carbohydrate metabolic process (GO:0005975)|cholesterol homeostasis (GO:0042632)|dephosphorylation (GO:0016311)|gluconeogenesis (GO:0006094)|glucose 6-phosphate metabolic process (GO:0051156)|glucose homeostasis (GO:0042593)|glucose transport (GO:0015758)|glucose-6-phosphate transport (GO:0015760)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|hexose transport (GO:0008645)|multicellular organism growth (GO:0035264)|regulation of gene expression (GO:0010468)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|transmembrane transport (GO:0055085)|triglyceride metabolic process (GO:0006641)|urate metabolic process (GO:0046415)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	glucose-6-phosphatase activity (GO:0004346)|phosphate ion binding (GO:0042301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)	p.A331V(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.113)		TGCAAGAGTGCGGTAGTGCCC	0.572													C|||	6	0.00119808	0.0	0.0	5008	,	,		20686	0.0		0.0	False		,,,				2504	0.0061					ENST00000253801.2																			1	Substitution - Missense(1)	p.A331V(1)	large_intestine(1)	breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	23						c.(991-993)gCg>gTg		glucose-6-phosphatase, catalytic subunit		C	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	131.0	128.0	129.0		992	4.9	0.9	17	dbSNP_134	129	2,8598	2.2+/-6.3	0,2,4298	yes	missense	G6PC	NM_000151.2	64	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	benign	331/358	41063361	3,13003	2203	4300	6503	SO:0001583	missense	2538				gluconeogenesis|glucose homeostasis|transmembrane transport	integral to endoplasmic reticulum membrane	glucose-6-phosphatase activity|phosphate binding	g.chr17:41063361C>T	U01120	CCDS11446.1, CCDS59291.1	17q21	2014-09-17	2006-06-28			ENSG00000131482	3.1.3.9		4056	protein-coding gene	gene with protein product	"""glycogen storage disease type I, von Gierke disease"""	613742	"""glucose-6-phosphatase, catalytic (glycogen storage disease type I, von Gierke disease)"""	G6PT		7774924	Standard	NM_000151		Approved	GSD1a	uc002icb.2	P35575		ENST00000253801.2:c.992C>T	17.37:g.41063361C>T	ENSP00000253801:p.Ala331Val					G6PC_ENST00000585489.1_3'UTR	p.A331V	NM_000151.3	NP_000142.2	P35575	G6PC_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.113)	5	1071	+		Breast(137;0.000143)	331					A1L4C0|B4E1C3|K7EL82	Missense_Mutation	SNP	ENST00000253801.2	37	c.992C>T	CCDS11446.1	.	.	.	.	.	.	.	.	.	.	C	14.85	2.658290	0.47467	2.27E-4	2.33E-4	ENSG00000131482	ENST00000253801	T	0.75821	-0.97	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	T	0.59390	0.2190	L	0.39397	1.21	0.80722	D	1	P	0.48230	0.907	B	0.33295	0.161	T	0.62863	-0.6764	10	0.36615	T	0.2	.	11.735	0.51759	0.0:0.9197:0.0:0.0803	.	331	P35575	G6PC_HUMAN	V	331	ENSP00000253801:A331V	ENSP00000253801:A331V	A	+	2	0	G6PC	38316887	0.999000	0.42202	0.930000	0.37139	0.781000	0.44180	3.926000	0.56491	2.552000	0.86080	0.637000	0.83480	GCG		0.572	G6PC-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452451.1	NM_000151		91	112	0	0	0	1	0	91	112				
PLCH1	23007	broad.mit.edu	37	3	155200026	155200026	+	Silent	SNP	C	C	T			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr3:155200026C>T	ENST00000340059.7	-	23	3812	c.3813G>A	c.(3811-3813)acG>acA	p.T1271T	PLCH1_ENST00000414191.1_Silent_p.T1233T|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000334686.6_Silent_p.T1233T|PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000460012.1_Silent_p.T1233T	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1271					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)	p.T1233T(1)|p.T1271T(1)		NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			AAACTGTGTTCGTTGCATGTT	0.468																																						ENST00000460012.1																			2	Substitution - coding silent(2)	p.T1233T(1)|p.T1271T(1)	lung(2)	NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107						c.(3697-3699)acG>acA		phospholipase C, eta 1							172.0	170.0	171.0					3																	155200026		2203	4300	6503	SO:0001819	synonymous_variant	23007				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:155200026C>T	AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.3813G>A	3.37:g.155200026C>T						PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000414191.1_Silent_p.T1233T|PLCH1_ENST00000340059.7_Silent_p.T1271T|PLCH1_ENST00000334686.6_Silent_p.T1233T	p.T1233T			Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		23	4056	-			1271					Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Silent	SNP	ENST00000340059.7	37	c.3699G>A	CCDS46939.1																																																																																				0.468	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996		74	90	0	0	0	1	0	74	90				
BMS1P20	96610	broad.mit.edu	37	22	22663087	22663087	+	RNA	SNP	A	A	G	rs1054158|rs71318762	byFrequency	TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr22:22663087A>G	ENST00000426066.1	+	0	526					NR_027293.1				BMS1 pseudogene 20																		GCTGCCACATAAGTTGTCCTT	0.303													.|||	3161	0.63119	0.9652	0.4726	5008	,	,		8984	0.4077		0.5219	False		,,,				2504	0.635					ENST00000426066.1																			0																																																			0							g.chr22:22663087A>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22663087A>G								NR_027293.1						0	526	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.303	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			3	28	0	0	0	1	0	3	28				
KCNG4	93107	broad.mit.edu	37	16	84270707	84270707	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr16:84270707C>T	ENST00000308251.4	-	2	453	c.385G>A	c.(385-387)Gcc>Acc	p.A129T	KCNG4_ENST00000568181.1_Missense_Mutation_p.A129T	NM_172347.2	NP_758857.1	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	129					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						AGCTTCCCGGCCGCCAGGAAG	0.637																																						ENST00000568181.1																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						c.(385-387)Gcc>Acc		potassium voltage-gated channel, subfamily G, member 4							47.0	50.0	49.0					16																	84270707		2200	4300	6500	SO:0001583	missense	93107					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr16:84270707C>T	AF348984	CCDS10945.1	16q24.1	2011-07-05			ENSG00000168418	ENSG00000168418		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	19697	protein-coding gene	gene with protein product		607603				12060745, 16382104	Standard	NM_172347		Approved	Kv6.4	uc010voc.2	Q8TDN1	OTTHUMG00000137638	ENST00000308251.4:c.385G>A	16.37:g.84270707C>T	ENSP00000312129:p.Ala129Thr					KCNG4_ENST00000308251.4_Missense_Mutation_p.A129T	p.A129T			Q8TDN1	KCNG4_HUMAN			2	505	-			129					Q96H24	Missense_Mutation	SNP	ENST00000308251.4	37	c.385G>A	CCDS10945.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.271060	0.80469	.	.	ENSG00000168418	ENST00000308251	T	0.74526	-0.85	5.12	4.16	0.48862	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.052146	0.85682	D	0.000000	T	0.69333	0.3099	N	0.10972	0.075	0.50467	D	0.999878	D;D	0.89917	0.999;1.0	D;D	0.77557	0.99;0.989	T	0.64943	-0.6288	10	0.02654	T	1	.	14.761	0.69607	0.0:0.8548:0.1452:0.0	.	129;129	Q8TDN1;Q8TDN1-2	KCNG4_HUMAN;.	T	129	ENSP00000312129:A129T	ENSP00000312129:A129T	A	-	1	0	KCNG4	82828208	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	5.988000	0.70579	1.131000	0.42111	0.549000	0.68633	GCC		0.637	KCNG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269079.2	NM_172347		28	57	0	0	0	1	0	28	57				
ZNF521	25925	broad.mit.edu	37	18	22807299	22807299	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr18:22807299T>C	ENST00000361524.3	-	4	731	c.583A>G	c.(583-585)Act>Gct	p.T195A	ZNF521_ENST00000538137.2_Missense_Mutation_p.T195A|ZNF521_ENST00000584787.1_5'UTR|ZNF521_ENST00000579111.1_5'Flank	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	195					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					GACGTGTGAGTCTTTAAGTGG	0.468			T	PAX5	ALL																																	ENST00000361524.3				Dom	yes		18	18q11.2	25925	T	zinc finger protein 521			L	PAX5		ALL		0				NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149						c.(583-585)Act>Gct		zinc finger protein 521							106.0	100.0	102.0					18																	22807299		2203	4300	6503	SO:0001583	missense	25925				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	g.chr18:22807299T>C	AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.583A>G	18.37:g.22807299T>C	ENSP00000354794:p.Thr195Ala					ZNF521_ENST00000584787.1_5'UTR|ZNF521_ENST00000538137.2_Missense_Mutation_p.T195A	p.T195A	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN			4	731	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		195					A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	ENST00000361524.3	37	c.583A>G	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	T	11.41	1.629263	0.28978	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.11930	2.73;2.73	5.98	5.98	0.97165	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.33760	0.0874	L	0.55103	1.725	0.41711	D	0.989454	D	0.76494	0.999	D	0.91635	0.999	T	0.01337	-1.1381	10	0.40728	T	0.16	-18.9086	16.4622	0.84064	0.0:0.0:0.0:1.0	.	195	Q96K83	ZN521_HUMAN	A	195;229;195	ENSP00000354794:T195A;ENSP00000382352:T195A	ENSP00000354794:T195A	T	-	1	0	ZNF521	21061297	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.698000	0.84413	2.289000	0.77006	0.533000	0.62120	ACT		0.468	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		5	62	0	0	0	1	0	5	62				
ABCB4	5244	broad.mit.edu	37	7	87053254	87053254	+	Missense_Mutation	SNP	C	C	T	rs546758628		TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr7:87053254C>T	ENST00000265723.4	-	17	2290	c.2179G>A	c.(2179-2181)Gca>Aca	p.A727T	ABCB4_ENST00000358400.3_Missense_Mutation_p.A727T|ABCB4_ENST00000545634.1_Missense_Mutation_p.A727T|ABCB4_ENST00000453593.1_Missense_Mutation_p.A727T|ABCB4_ENST00000359206.3_Missense_Mutation_p.A727T	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	727	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	ACTGAAAATGCCGGCTGAAGC	0.458													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19488	0.0		0.0	False		,,,				2504	0.0					ENST00000265723.4																			0				breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(2179-2181)Gca>Aca		ATP-binding cassette, sub-family B (MDR/TAP), member 4							136.0	141.0	139.0					7																	87053254		2203	4300	6503	SO:0001583	missense	5244				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	g.chr7:87053254C>T	M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"""ATP binding cassette transporters / subfamily B"""	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.2179G>A	7.37:g.87053254C>T	ENSP00000265723:p.Ala727Thr					ABCB4_ENST00000453593.1_Missense_Mutation_p.A727T|ABCB4_ENST00000359206.3_Missense_Mutation_p.A727T|ABCB4_ENST00000358400.3_Missense_Mutation_p.A727T|ABCB4_ENST00000545634.1_Missense_Mutation_p.A727T	p.A727T	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN			17	2290	-	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		727			ABC transmembrane type-1 2.		A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Missense_Mutation	SNP	ENST00000265723.4	37	c.2179G>A	CCDS5606.1	.	.	.	.	.	.	.	.	.	.	C	13.23	2.173802	0.38413	.	.	ENSG00000005471	ENST00000359206;ENST00000358400;ENST00000265723;ENST00000453593;ENST00000545634	D;D;D;D;D	0.90004	-2.6;-2.6;-2.6;-2.6;-2.6	6.11	5.23	0.72850	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.312505	0.32918	N	0.005496	D	0.85371	0.5681	L	0.45137	1.4	0.35393	D	0.790895	B;B;B	0.27068	0.095;0.138;0.167	B;B;B	0.33121	0.065;0.098;0.158	D	0.84676	0.0714	10	0.21540	T	0.41	-14.1621	13.3683	0.60698	0.0:0.8697:0.0:0.1303	.	727;727;727	A4D1D5;P21439-2;P21439	.;.;MDR3_HUMAN	T	727	ENSP00000352135:A727T;ENSP00000351172:A727T;ENSP00000265723:A727T;ENSP00000392983:A727T;ENSP00000437465:A727T	ENSP00000265723:A727T	A	-	1	0	ABCB4	86891190	0.011000	0.17503	0.126000	0.21872	0.888000	0.51559	0.640000	0.24705	1.602000	0.50124	-0.140000	0.14226	GCA		0.458	ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336083.1	NM_000443		4	164	0	0	0	1	0	4	164				
SETX	23064	broad.mit.edu	37	9	135211887	135211887	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr9:135211887T>C	ENST00000224140.5	-	6	696	c.514A>G	c.(514-516)Atc>Gtc	p.I172V	SETX_ENST00000372169.2_Missense_Mutation_p.I172V|SETX_ENST00000393220.1_Missense_Mutation_p.I172V	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	172					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		GCAGTCAAGATAGCCCAACGC	0.348																																						ENST00000372169.2																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97						c.(514-516)Atc>Gtc		senataxin							77.0	79.0	78.0					9																	135211887		2203	4300	6503	SO:0001583	missense	23064				cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity	g.chr9:135211887T>C	AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"""amyotrophic lateral sclerosis 4"", ""spinocerebellar ataxia, recessive, non-Friedreich type 1"""	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.514A>G	9.37:g.135211887T>C	ENSP00000224140:p.Ile172Val					SETX_ENST00000393220.1_Missense_Mutation_p.I172V|SETX_ENST00000224140.5_Missense_Mutation_p.I172V	p.I172V			Q7Z333	SETX_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)	6	696	-		Myeloproliferative disorder(178;0.204)	172					A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Missense_Mutation	SNP	ENST00000224140.5	37	c.514A>G	CCDS6947.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.146113	0.77888	.	.	ENSG00000107290	ENST00000224140;ENST00000372169;ENST00000393220	D;D;D	0.83075	-1.68;-1.68;-1.68	5.9	5.9	0.94986	.	0.133750	0.48286	D	0.000197	D	0.86314	0.5903	L	0.29908	0.895	0.36015	D	0.838364	D	0.76494	0.999	D	0.76071	0.987	D	0.90118	0.4197	10	0.66056	D	0.02	.	15.5083	0.75760	0.0:0.0:0.0:1.0	.	172	Q7Z333	SETX_HUMAN	V	172	ENSP00000224140:I172V;ENSP00000361242:I172V;ENSP00000376913:I172V	ENSP00000224140:I172V	I	-	1	0	SETX	134201708	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.179000	0.71974	2.250000	0.74265	0.528000	0.53228	ATC		0.348	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	NM_015046		35	60	0	0	0	1	0	35	60				
NYAP2	57624	broad.mit.edu	37	2	226446836	226446836	+	Missense_Mutation	SNP	G	G	A	rs551352616		TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr2:226446836G>A	ENST00000272907.6	+	4	1116	c.703G>A	c.(703-705)Gcg>Acg	p.A235T	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	235					neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												GGGCAGCCCCGCGGGAGACCC	0.597													G|||	1	0.000199681	0.0	0.0	5008	,	,		14598	0.0		0.0	False		,,,				2504	0.001					ENST00000272907.6																			0											c.(703-705)Gcg>Acg		neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2							98.0	105.0	103.0					2																	226446836		1890	4098	5988	SO:0001583	missense	57624							g.chr2:226446836G>A	AB040919	CCDS46529.1	2q36.3	2011-11-30	2011-11-30	2011-11-30	ENSG00000144460	ENSG00000144460			29291	protein-coding gene	gene with protein product		615478	"""KIAA1486"""	KIAA1486		10819331, 21946561	Standard	NM_020864		Approved		uc002voe.2	Q9P242	OTTHUMG00000153450	ENST00000272907.6:c.703G>A	2.37:g.226446836G>A	ENSP00000272907:p.Ala235Thr					NYAP2_ENST00000409269.2_Intron	p.A235T	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN			4	1116	+			235					A2RRN4|Q96NL2	Missense_Mutation	SNP	ENST00000272907.6	37	c.703G>A	CCDS46529.1	.	.	.	.	.	.	.	.	.	.	G	19.24	3.790210	0.70337	.	.	ENSG00000144460	ENST00000272907	T	0.42513	0.97	5.9	4.07	0.47477	.	0.176558	0.48767	D	0.000171	T	0.62792	0.2457	M	0.67953	2.075	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.65792	-0.6082	10	0.62326	D	0.03	-16.5714	15.4634	0.75377	0.0:0.0:0.7468:0.2532	.	235	Q9P242	K1486_HUMAN	T	235	ENSP00000272907:A235T	ENSP00000272907:A235T	A	+	1	0	KIAA1486	226155080	0.999000	0.42202	0.997000	0.53966	0.828000	0.46876	4.803000	0.62546	0.814000	0.34374	0.644000	0.83932	GCG		0.597	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331258.1	NM_020864		104	105	0	0	0	1	0	104	105				
RSF1	51773	broad.mit.edu	37	11	77386296	77386296	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr11:77386296T>C	ENST00000308488.6	-	14	3649	c.3347A>G	c.(3346-3348)cAa>cGa	p.Q1116R	RSF1_ENST00000360355.2_Missense_Mutation_p.Q1085R|RSF1_ENST00000480887.1_Missense_Mutation_p.Q864R			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	1116					CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|DNA-templated transcription, initiation (GO:0006352)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RSF complex (GO:0031213)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			AAACTCATCTTGAGATCTGTC	0.393																																						ENST00000308488.6																			0				breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(3346-3348)cAa>cGa		remodeling and spacing factor 1							73.0	70.0	71.0					11																	77386296		2200	4292	6492	SO:0001583	missense	51773				CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding	g.chr11:77386296T>C	AF380176, AF227948	CCDS8253.1	11q14.1	2013-01-28	2006-05-25	2006-05-25	ENSG00000048649	ENSG00000048649		"""Zinc fingers, PHD-type"""	18118	protein-coding gene	gene with protein product		608522	"""hepatitis B virus x associated protein"""	HBXAP		11788598, 12972596	Standard	NM_016578		Approved	XAP8, RSF-1, p325	uc001oyn.3	Q96T23	OTTHUMG00000150433	ENST00000308488.6:c.3347A>G	11.37:g.77386296T>C	ENSP00000311513:p.Gln1116Arg					RSF1_ENST00000480887.1_Missense_Mutation_p.Q864R|RSF1_ENST00000360355.2_Missense_Mutation_p.Q1085R	p.Q1116R			Q96T23	RSF1_HUMAN	Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)		14	3649	-	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		1116					Q86X86|Q9H3L8|Q9NVZ8|Q9NYU0	Missense_Mutation	SNP	ENST00000308488.6	37	c.3347A>G	CCDS8253.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.339011	0.81911	.	.	ENSG00000048649	ENST00000308488;ENST00000480887;ENST00000360355;ENST00000531026	D;D;D;D	0.91577	-2.0;-2.03;-2.0;-2.87	4.97	4.97	0.65823	.	0.000000	0.49305	D	0.000148	D	0.87581	0.6213	N	0.22421	0.69	0.37246	D	0.906338	P	0.51791	0.948	P	0.48738	0.588	D	0.90952	0.4806	10	0.72032	D	0.01	-15.2879	14.4865	0.67622	0.0:0.0:0.0:1.0	.	1116	Q96T23	RSF1_HUMAN	R	1116;864;1085;225	ENSP00000311513:Q1116R;ENSP00000434509:Q864R;ENSP00000353511:Q1085R;ENSP00000433603:Q225R	ENSP00000311513:Q1116R	Q	-	2	0	RSF1	77063944	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.436000	0.73417	2.082000	0.62665	0.528000	0.53228	CAA		0.393	RSF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318075.2	NM_016578		17	20	0	0	0	1	0	17	20				
KIR3DX1	90011	broad.mit.edu	37	19	55045118	55045118	+	Missense_Mutation	SNP	A	A	T			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr19:55045118A>T	ENST00000335056.3	+	3	276	c.238A>T	c.(238-240)Acc>Tcc	p.T80S				Q9H7L2	KI3X1_HUMAN	killer cell immunoglobulin-like receptor, three domains, X1	80	Ig-like C2-type 1.					extracellular region (GO:0005576)				endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1)	24				GBM - Glioblastoma multiforme(193;0.099)		CAACAACATCACCATCAGCCC	0.498																																					Colon(183;529 2002 28270 32358 35845)|Esophageal Squamous(50;443 1006 2278 10294 37938)	ENST00000335056.3																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1)	24						c.(238-240)Acc>Tcc									83.0	85.0	84.0					19																	55045118		2118	4249	6367	SO:0001583	missense	0							g.chr19:55045118A>T	BC033195		19q13.42	2013-03-26	2006-09-12	2006-09-12	ENSG00000104970	ENSG00000104970		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	25043	other	unknown			"""leukocyte receptor cluster (LRC) member 12"""	LENG12		11441184	Standard	NR_026716		Approved	FLJ00060	uc010erm.2	Q9H7L2	OTTHUMG00000065696	ENST00000335056.3:c.238A>T	19.37:g.55045118A>T	ENSP00000335388:p.Thr80Ser						p.T80S						GBM - Glioblastoma multiforme(193;0.099)	3	276	+								B7WNL0|Q8N0S4	Missense_Mutation	SNP	ENST00000335056.3	37	c.238A>T		.	.	.	.	.	.	.	.	.	.	A	6.484	0.457472	0.12342	.	.	ENSG00000104970	ENST00000335056	T	0.11930	2.73	2.74	-0.916	0.10489	.	.	.	.	.	T	0.13157	0.0319	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.30592	-0.9973	6	0.72032	D	0.01	.	4.2218	0.10561	0.3336:0.4857:0.0:0.1806	.	.	.	.	S	80	ENSP00000335388:T80S	ENSP00000221567:T80S	T	+	1	0	KIR3DX1	59736930	0.000000	0.05858	0.005000	0.12908	0.033000	0.12548	-0.472000	0.06623	-0.236000	0.09753	0.533000	0.62120	ACC		0.498	KIR3DX1-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000140800.2	NR_026716		3	29	0	0	0	1	0	3	29				
FLG	2312	broad.mit.edu	37	1	152280704	152280704	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr1:152280704A>G	ENST00000368799.1	-	3	6693	c.6658T>C	c.(6658-6660)Tct>Cct	p.S2220P	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2220	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGTGTCTAGAGCTGTCGGCC	0.552									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(6658-6660)Tct>Cct		filaggrin							301.0	283.0	289.0					1																	152280704		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152280704A>G	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.6658T>C	1.37:g.152280704A>G	ENSP00000357789:p.Ser2220Pro					FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.S2220P	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6693	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2220			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.6658T>C	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	a	4.499	0.092541	0.08632	.	.	ENSG00000143631	ENST00000368799	T	0.09163	3.01	1.91	-1.3	0.09259	.	.	.	.	.	T	0.04048	0.0113	M	0.83312	2.635	0.09310	N	1	P	0.49185	0.92	B	0.36464	0.225	T	0.24905	-1.0147	9	0.48119	T	0.1	.	3.0119	0.06047	0.3244:0.4652:0.0:0.2104	.	2220	P20930	FILA_HUMAN	P	2220	ENSP00000357789:S2220P	ENSP00000357789:S2220P	S	-	1	0	FLG	150547328	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.494000	0.22467	-0.272000	0.09259	0.352000	0.21897	TCT		0.552	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		5	434	0	0	0	1	0	5	434				
MIR381HG	378881	broad.mit.edu	37	14	101515048	101515048	+	lincRNA	SNP	G	G	C			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr14:101515048G>C	ENST00000553692.1	+	0	28				MIR381_ENST00000362150.1_RNA|MIR655_ENST00000362159.2_RNA|MIR539_ENST00000365690.2_RNA|MIR487B_ENST00000385021.1_RNA|MIR889_ENST00000401280.1_RNA|MIR544A_ENST00000384855.1_RNA	NR_104192.1				MIR381 host gene (non-protein coding)																		cagggaccaagattctgcatt	0.433																																						ENST00000553692.1																			0																				94.0	92.0	93.0					14																	101515048		1568	3582	5150			0							g.chr14:101515048G>C	AA861571		14q32.31	2013-07-30	2010-01-22	2010-01-22	ENSG00000258861	ENSG00000258861		"""Long non-coding RNAs"""	20136	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 225"""		"""chromosome 14 open reading frame 89"""	C14orf89			Standard	NR_104192		Approved	NCRNA00225			OTTHUMG00000171633		14.37:g.101515048G>C						MIR544A_ENST00000384855.1_RNA								0	28	+									RNA	SNP	ENST00000553692.1	37																																																																																						0.433	MIR381HG-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000414538.1			16	34	0	0	0	1	0	16	34				
LRRC37A4P	55073	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs202189074		TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr17:43587569G>C	ENST00000579913.1	-	0	1444				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		aactccgtctgaaaagaaaag	0.443																																						ENST00000253803.2																			0																																																			0							g.chr17:43587569G>C	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587569G>C						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.443	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		6	68	0	0	0	1	0	6	68				
TRNAU1AP	54952	broad.mit.edu	37	1	28906820	28906820	+	IGR	DEL	A	A	-			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr1:28906820delA	ENST00000373830.3	+	0	1793				SNORD99_ENST00000408612.1_RNA|SNHG12_ENST00000384342.1_RNA|SNHG12_ENST00000531126.1_RNA|SNHG12_ENST00000384581.1_RNA|SNHG12_ENST00000475441.1_RNA|SNHG12_ENST00000488745.1_RNA|SNHG12_ENST00000384584.1_RNA|SNHG12_ENST00000483436.1_RNA	NM_017846.4	NP_060316.1	Q9NX07	TSAP1_HUMAN	tRNA selenocysteine 1 associated protein 1						selenocysteine incorporation (GO:0001514)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	8						actccgtctcaaaaaaaaaaa	0.493																																						ENST00000488745.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr1:28906820delA		CCDS324.1	1p35.3	2013-02-12	2008-09-05	2008-09-05	ENSG00000180098	ENSG00000180098		"""RNA binding motif (RRM) containing"""	30813	protein-coding gene	gene with protein product			"""tRNA selenocysteine associated protein 1"""	TRSPAP1		10606267, 16230358	Standard	NM_017846		Approved	SECP43, FLJ20503	uc001bqi.3	Q9NX07	OTTHUMG00000003653		1.37:g.28906820delA						SNHG12_ENST00000531126.1_RNA|SNHG12_ENST00000475441.1_RNA|SNHG12_ENST00000483436.1_RNA								0	1100	-								Q86SU7	RNA	DEL	ENST00000373830.3	37		CCDS324.1																																																																																				0.493	TRNAU1AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010346.1	NM_017846		3	3						3	3	---	---	---	---
ANGPTL3	27329	broad.mit.edu	37	1	63063515	63063517	+	In_Frame_Del	DEL	AAG	AAG	-	rs537365761	byFrequency	TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr1:63063515_63063517delAAG	ENST00000371129.3	+	1	358_360	c.278_280delAAG	c.(277-282)aaagaa>aaa	p.E96del	DOCK7_ENST00000404627.2_Intron|DOCK7_ENST00000251157.5_Intron|DOCK7_ENST00000340370.5_Intron	NM_014495.2	NP_055310.1	Q9Y5C1	ANGL3_HUMAN	angiopoietin-like 3	96					acylglycerol homeostasis (GO:0055090)|artery morphogenesis (GO:0048844)|cell-matrix adhesion (GO:0007160)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|fatty acid metabolic process (GO:0006631)|glycerol metabolic process (GO:0006071)|integrin-mediated signaling pathway (GO:0007229)|lipid homeostasis (GO:0055088)|lipid storage (GO:0019915)|negative regulation of lipoprotein lipase activity (GO:0051005)|negative regulation of phospholipase activity (GO:0010519)|phospholipid catabolic process (GO:0009395)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of lipid catabolic process (GO:0050996)|response to hormone (GO:0009725)|signal transduction (GO:0007165)|triglyceride homeostasis (GO:0070328)	cell surface (GO:0009986)|extracellular space (GO:0005615)	enzyme inhibitor activity (GO:0004857)|growth factor activity (GO:0008083)|integrin binding (GO:0005178)|phospholipase inhibitor activity (GO:0004859)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|urinary_tract(1)	13						AGTGAAATCAAAGAAGAAGAAAA	0.325														4	0.000798722	0.003	0.0	5008	,	,		18166	0.0		0.0	False		,,,				2504	0.0					ENST00000371129.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|urinary_tract(1)	13						c.(277-282)aaa>a		angiopoietin-like 3			,	14,4250		7,0,2125					,	4.6	1.0			64	17,8235		7,3,4116	no	intron,coding	ANGPTL3,DOCK7	NM_033407.2,NM_014495.2	,	14,3,6241	A1A1,A1R,RR		0.206,0.3283,0.2477	,	,		31,12485				SO:0001651	inframe_deletion	27329				acylglycerol homeostasis|artery morphogenesis|cell-matrix adhesion|cholesterol homeostasis|cholesterol metabolic process|fatty acid metabolic process|glycerol metabolic process|integrin-mediated signaling pathway|lipid storage|negative regulation of lipoprotein lipase activity|negative regulation of phospholipase activity|phospholipid catabolic process|phospholipid homeostasis|positive regulation of angiogenesis|positive regulation of cell migration|positive regulation of lipid catabolic process|triglyceride homeostasis	extracellular space	cell surface binding|growth factor activity|integrin binding|phospholipase inhibitor activity	g.chr1:63063515_63063517delAAG	AF152562	CCDS622.1	1p31.3	2013-02-06			ENSG00000132855	ENSG00000132855		"""Fibrinogen C domain containing"""	491	protein-coding gene	gene with protein product	"""angiopoietin 5"""	604774		ANGPT5		10644446	Standard	NM_014495		Approved		uc001das.2	Q9Y5C1	OTTHUMG00000009146	ENST00000371129.3:c.278_280delAAG	1.37:g.63063521_63063523delAAG	ENSP00000360170:p.Glu96del					DOCK7_ENST00000404627.2_Intron|DOCK7_ENST00000251157.5_Intron|DOCK7_ENST00000340370.5_Intron	p.KE93del	NM_014495.2	NP_055310.1	Q9Y5C1	ANGL3_HUMAN			1	358_360	+			93					A0JLS0|B1ALJ0|B2RCW1	In_Frame_Del	DEL	ENST00000371129.3	37	c.278_280delAAG	CCDS622.1																																																																																				0.325	ANGPTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025344.1	NM_014495		24	14						24	14	---	---	---	---
FUBP1	8880	broad.mit.edu	37	1	78428470	78428471	+	Frame_Shift_Del	DEL	TA	TA	-	rs369776228		TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr1:78428470_78428471delTA	ENST00000370768.2	-	14	1409_1410	c.1328_1329delTA	c.(1327-1329)atafs	p.I443fs	FUBP1_ENST00000370767.1_Frame_Shift_Del_p.I443fs|FUBP1_ENST00000436586.2_Frame_Shift_Del_p.I464fs	NM_003902.3	NP_003893.2	Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	443	KH 4. {ECO:0000255|PROSITE- ProRule:PRU00117}.				positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						TCTTTTCTTCTATGAGTTGCCG	0.337			"""F, N"""		oligodendroglioma																																	ENST00000370767.1				Rec	yes		1	1p13.1	8880	"""F, N"""	far upstream element (FUSE) binding protein 1			O			oligodendroglioma		0				central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						c.(1327-1329)afs		far upstream element (FUSE) binding protein 1																																				SO:0001589	frameshift_variant	8880				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	g.chr1:78428470_78428471delTA	U05040	CCDS683.1	1p31.1	2008-02-05			ENSG00000162613	ENSG00000162613			4004	protein-coding gene	gene with protein product		603444		FUBP		8125259	Standard	XM_005271309		Approved	FBP	uc001dii.3	Q96AE4	OTTHUMG00000040799	ENST00000370768.2:c.1328_1329delTA	1.37:g.78428470_78428471delTA	ENSP00000359804:p.Ile443fs					FUBP1_ENST00000370768.2_Frame_Shift_Del_p.I443fs|FUBP1_ENST00000436586.2_Frame_Shift_Del_p.I464fs	p.I443fs			Q96AE4	FUBP1_HUMAN			14	1415_1416	-			443			KH 4.		Q12828	Frame_Shift_Del	DEL	ENST00000370768.2	37	c.1328_1329delTA	CCDS683.1																																																																																				0.337	FUBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098030.3	NM_003902		30	9						30	9	---	---	---	---
HSD3B2	3284	broad.mit.edu	37	1	119965057	119965057	+	Missense_Mutation	SNP	A	A	C			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr1:119965057A>C	ENST00000543831.1	+	4	1182	c.933A>C	c.(931-933)caA>caC	p.Q311H	HSD3B2_ENST00000369416.3_Missense_Mutation_p.Q311H	NM_001166120.1	NP_001159592.1	P26439	3BHS2_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	311					androgen biosynthetic process (GO:0006702)|glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial membrane (GO:0031966)|smooth endoplasmic reticulum membrane (GO:0030868)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|steroid delta-isomerase activity (GO:0004769)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	Corticotropin(DB01285)|Medroxyprogesterone Acetate(DB00603)|Trilostane(DB01108)	ACTCCTATCAACCCCCCTTCA	0.483																																						ENST00000543831.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27						c.(931-933)caA>caC		hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	NADH(DB00157)|Trilostane(DB01108)						93.0	94.0	94.0					1																	119965057		2203	4300	6503	SO:0001583	missense	3284				androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity	g.chr1:119965057A>C	BC038419	CCDS902.1	1p12	2014-06-03			ENSG00000203859	ENSG00000203859	1.1.1.145, 5.3.3.1	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	5218	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 11E, member 2"""	613890				1363812, 19027726	Standard	NM_000198		Approved	SDR11E2	uc001eht.3	P26439	OTTHUMG00000012526	ENST00000543831.1:c.933A>C	1.37:g.119965057A>C	ENSP00000445122:p.Gln311His					HSD3B2_ENST00000369416.3_Missense_Mutation_p.Q311H	p.Q311H	NM_001166120.1	NP_001159592.1	P26439	3BHS2_HUMAN		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	4	1182	+	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)	311					A2RRA5|Q16010|Q53GD4|Q6AI10|Q6LDB9|Q99890|Q9UD08	Missense_Mutation	SNP	ENST00000543831.1	37	c.933A>C	CCDS902.1	.	.	.	.	.	.	.	.	.	.	-	1.211	-0.629658	0.03610	.	.	ENSG00000203859	ENST00000543831;ENST00000369416	T;T	0.69685	-0.42;-0.42	4.1	-3.31	0.04988	.	1.015210	0.07893	N	0.971428	T	0.27731	0.0682	L	0.36672	1.1	0.09310	N	0.999996	B	0.02656	0.0	B	0.04013	0.001	T	0.17930	-1.0353	9	.	.	.	-16.5012	6.4546	0.21922	0.2625:0.4216:0.3159:0.0	.	311	P26439	3BHS2_HUMAN	H	311	ENSP00000445122:Q311H;ENSP00000358424:Q311H	.	Q	+	3	2	HSD3B2	119766580	0.000000	0.05858	0.002000	0.10522	0.043000	0.13939	-2.258000	0.01179	-0.339000	0.08401	0.248000	0.18094	CAA		0.483	HSD3B2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034994.1	NM_000198		4	37	0	0	0	1	0	4	37				
SCYL3	57147	broad.mit.edu	37	1	169845143	169845146	+	Frame_Shift_Del	DEL	ACAA	ACAA	-			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr1:169845143_169845146delACAA	ENST00000367770.1	-	3	485_488	c.438_441delTTGT	c.(436-441)gtttgtfs	p.VC146fs	SCYL3_ENST00000367772.4_Frame_Shift_Del_p.VC146fs|SCYL3_ENST00000470238.1_5'UTR|SCYL3_ENST00000367771.6_Frame_Shift_Del_p.VC146fs			Q8IZE3	PACE1_HUMAN	SCY1-like 3 (S. cerevisiae)	146	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell migration (GO:0016477)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)	ATP binding (GO:0005524)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GAGAAACTTTACAAACAGTTTCCA	0.441																																						ENST00000367772.4																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(436-441)gtfs		SCY1-like 3 (S. cerevisiae)																																				SO:0001589	frameshift_variant	57147				cell migration	Golgi apparatus|lamellipodium	ATP binding|protein binding|protein kinase activity	g.chr1:169845143_169845146delACAA	BC014662	CCDS1286.1, CCDS1287.1	1q24.2	2008-02-05			ENSG00000000457	ENSG00000000457			19285	protein-coding gene	gene with protein product	"""ezrin-binding partner PACE-1"""	608192				12651155	Standard	NM_020423		Approved	PACE-1, PACE1	uc001ggs.3	Q8IZE3	OTTHUMG00000035941	ENST00000367770.1:c.438_441delTTGT	1.37:g.169845143_169845146delACAA	ENSP00000356744:p.Val146fs					SCYL3_ENST00000367770.1_Frame_Shift_Del_p.VC146fs|SCYL3_ENST00000367771.5_Frame_Shift_Del_p.VC146fs|SCYL3_ENST00000470238.1_5'UTR	p.VC146fs	NM_181093.3	NP_851607.2	Q8IZE3	PACE1_HUMAN			4	635_638	-	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		146			Protein kinase.		A8K8Z2|Q5THA6|Q5THA8|Q8IZN9|Q96C56|Q9UBK6	Frame_Shift_Del	DEL	ENST00000367770.1	37	c.438_441delTTGT	CCDS1287.1																																																																																				0.441	SCYL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087550.4	NM_181093		17	46						17	46	---	---	---	---
GNPAT	8443	broad.mit.edu	37	1	231374902	231374904	+	5'Flank	DEL	TCT	TCT	-			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr1:231374902_231374904delTCT	ENST00000366647.4	+	0	0				C1orf131_ENST00000366651.3_In_Frame_Del_p.K50del|C1orf131_ENST00000318906.2_In_Frame_Del_p.K50del|GNPAT_ENST00000366646.3_5'Flank|C1orf131_ENST00000471936.1_5'UTR|C1orf131_ENST00000366649.2_In_Frame_Del_p.K50del	NM_014236.3	NP_055051.1	O15228	GNPAT_HUMAN	glyceronephosphate O-acyltransferase						cellular lipid metabolic process (GO:0044255)|cerebellum morphogenesis (GO:0021587)|ether lipid biosynthetic process (GO:0008611)|glycerophospholipid biosynthetic process (GO:0046474)|membrane organization (GO:0061024)|paranodal junction assembly (GO:0030913)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to fatty acid (GO:0070542)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)|synapse assembly (GO:0007416)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	glycerone-phosphate O-acyltransferase activity (GO:0016287)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	23	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				TTCTTTATGATCTTCTTCTGTTC	0.424																																						ENST00000318906.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	8						c.(148-153)atc>a		chromosome 1 open reading frame 131																																				SO:0001631	upstream_gene_variant	128061							g.chr1:231374902_231374904delTCT	AF043937	CCDS1592.1	1q42	2008-02-05			ENSG00000116906	ENSG00000116906	2.3.1.42		4416	protein-coding gene	gene with protein product		602744				9459311, 9536089	Standard	NM_014236		Approved	DHAPAT, DAPAT, DAP-AT	uc001hup.4	O15228	OTTHUMG00000038024		1.37:g.231374908_231374910delTCT	Exception_encountered					C1orf131_ENST00000366649.2_In_Frame_Del_p.KI50del|C1orf131_ENST00000366651.3_In_Frame_Del_p.KI50del|C1orf131_ENST00000471936.1_5'UTR	p.KI50del			Q8NDD1	CA131_HUMAN			2	177_179	-	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)	50					B4DNM9|Q5TBH7|Q9BWC2	In_Frame_Del	DEL	ENST00000366647.4	37	c.149_151delAGA	CCDS1592.1																																																																																				0.424	GNPAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092871.1			10	65						10	65	---	---	---	---
CELSR3	1951	broad.mit.edu	37	3	48699364	48699365	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr3:48699364_48699365insG	ENST00000164024.4	-	1	983_984	c.703_704insC	c.(703-705)cttfs	p.L235fs	RP11-148G20.1_ENST00000421275.1_RNA|CELSR3_ENST00000544264.1_Frame_Shift_Ins_p.L235fs	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	235					axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GGCCCCTGGAAGACAGTTCCGC	0.658																																						ENST00000544264.1																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83						c.(703-705)tccfs		cadherin, EGF LAG seven-pass G-type receptor 3																																				SO:0001589	frameshift_variant	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48699364_48699365insG	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.704dupC	3.37:g.48699365_48699365dupG	ENSP00000164024:p.Leu235fs					CELSR3_ENST00000164024.4_Frame_Shift_Ins_p.S235fs	p.S235fs			Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	1	983_984	-			235					O75092	Frame_Shift_Ins	INS	ENST00000164024.4	37	c.703_704insC	CCDS2775.1																																																																																				0.658	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		69	120						69	120	---	---	---	---
LAMA2	3908	broad.mit.edu	37	6	129762070	129762072	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr6:129762070_129762072delGAA	ENST00000421865.2	+	43	6244_6246	c.6195_6197delGAA	c.(6193-6198)ctgaag>ctg	p.K2067del		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2067	Domain II and I.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TCGATGGCCTGAAGAAGAATTAC	0.438																																						ENST00000421865.2																			0				NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194						c.(6193-6198)ctg>ct		laminin, alpha 2																																				SO:0001651	inframe_deletion	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129762070_129762072delGAA	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.6195_6197delGAA	6.37:g.129762076_129762078delGAA	ENSP00000400365:p.Lys2067del						p.LK2065del	NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	43	6244_6246	+			2065			Domain II and I.		Q14736|Q5VUM2|Q93022	In_Frame_Del	DEL	ENST00000421865.2	37	c.6195_6197delGAA	CCDS5138.1																																																																																				0.438	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			21	41						21	41	---	---	---	---
C1GALT1	56913	broad.mit.edu	37	7	7278106	7278109	+	Frame_Shift_Del	DEL	AATT	AATT	-			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr7:7278106_7278109delAATT	ENST00000223122.3	+	2	503_506	c.441_444delAATT	c.(439-444)acaattfs	p.TI147fs	C1GALT1_ENST00000402468.3_Frame_Shift_Del_p.TI147fs|C1GALT1_ENST00000436587.2_Frame_Shift_Del_p.TI147fs			Q9NS00	C1GLT_HUMAN	core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1	147					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|kidney development (GO:0001822)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity (GO:0016263)|metal ion binding (GO:0046872)			breast(1)|kidney(1)|lung(3)|prostate(1)|urinary_tract(1)	7				UCEC - Uterine corpus endometrioid carcinoma (126;0.177)		ACTGGAAAACAATTAAAGCTTTTC	0.358																																						ENST00000436587.2																			0				breast(1)|kidney(1)|lung(3)|prostate(1)|urinary_tract(1)	7						c.(439-444)acfs		core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1																																				SO:0001589	frameshift_variant	56913				angiogenesis|cell differentiation|kidney development	integral to membrane	glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity|metal ion binding	g.chr7:7278106_7278109delAATT	AF155582	CCDS5355.1	7p21.3	2014-06-24	2014-06-24		ENSG00000106392	ENSG00000106392	2.4.1.122	"""Beta 3-glycosyltransferases"""	24337	protein-coding gene	gene with protein product	"""core 1 beta3-Gal-T"""	610555				10580128, 11677243	Standard	NM_020156		Approved	C1GALT, T-synthase	uc003srb.3	Q9NS00	OTTHUMG00000151912	ENST00000223122.3:c.441_444delAATT	7.37:g.7278106_7278109delAATT	ENSP00000223122:p.Thr147fs					C1GALT1_ENST00000223122.2_Frame_Shift_Del_p.TI147fs|C1GALT1_ENST00000402468.3_Frame_Shift_Del_p.TI147fs	p.TI147fs	NM_020156.3	NP_064541.1	Q9NS00	C1GLT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.177)	3	664_667	+			147					Q96QH4|Q9BTU1	Frame_Shift_Del	DEL	ENST00000223122.3	37	c.441_444delAATT	CCDS5355.1																																																																																				0.358	C1GALT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324379.2	NM_020156		21	56						21	56	---	---	---	---
TTC26	79989	broad.mit.edu	37	7	138822611	138822613	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr7:138822611_138822613delGAA	ENST00000464848.1	+	3	240_242	c.160_162delGAA	c.(160-162)gaadel	p.E57del	TTC26_ENST00000474035.2_In_Frame_Del_p.E57del|TTC26_ENST00000495038.1_In_Frame_Del_p.E57del|TTC26_ENST00000430935.1_In_Frame_Del_p.E57del|TTC26_ENST00000481482.1_3'UTR|TTC26_ENST00000343187.4_Intron|TTC26_ENST00000478836.2_In_Frame_Del_p.E57del			A0AVF1	TTC26_HUMAN	tetratricopeptide repeat domain 26	57					cilium assembly (GO:0042384)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle B (GO:0030992)|primary cilium (GO:0072372)				breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	24						TCATGTTGGGGAAGAAGAAGAGG	0.33																																						ENST00000464848.1																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	24						c.(160-162)del		tetratricopeptide repeat domain 26																																				SO:0001651	inframe_deletion	79989						binding	g.chr7:138822611_138822613delGAA	AK022633	CCDS5852.1, CCDS55172.1, CCDS55173.1, CCDS75665.1	7q34	2013-01-11			ENSG00000105948	ENSG00000105948		"""Intraflagellar transport homologs"", ""Tetratricopeptide (TTC) repeat domain containing"""	21882	protein-coding gene	gene with protein product							Standard	NM_001144920		Approved	FLJ12571, dyf-13, DYF13	uc003vus.2	A0AVF1	OTTHUMG00000157472	ENST00000464848.1:c.160_162delGAA	7.37:g.138822617_138822619delGAA	ENSP00000419279:p.Glu57del					TTC26_ENST00000343187.4_Intron|TTC26_ENST00000495038.1_In_Frame_Del_p.E57del|TTC26_ENST00000478836.2_In_Frame_Del_p.E57del|TTC26_ENST00000430935.1_In_Frame_Del_p.E57del|TTC26_ENST00000481482.1_3'UTR|TTC26_ENST00000474035.2_In_Frame_Del_p.E57del	p.E57del			A0AVF1	TTC26_HUMAN			3	240_242	+			57					A4D1S3|B7Z5M0|C9J2N7|F8W724|Q9H9S8|Q9NTC0	In_Frame_Del	DEL	ENST00000464848.1	37	c.160_162delGAA	CCDS5852.1																																																																																				0.330	TTC26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348919.2	NM_024926		7	142						7	142	---	---	---	---
BHLHE22	27319	broad.mit.edu	37	8	65494021	65494023	+	In_Frame_Del	DEL	GCA	GCA	-	rs62519837		TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	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		5	8						5	8	---	---	---	---
GBA2	57704	broad.mit.edu	37	9	35736657	35736660	+	IGR	DEL	AAGG	AAGG	-			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr9:35736657_35736660delAAGG	ENST00000378103.3	-	0	3611				CREB3_ENST00000353704.2_Frame_Shift_Del_p.TR350fs|GBA2_ENST00000467252.1_5'Flank|CREB3_ENST00000486056.1_3'UTR	NM_020944.2	NP_065995.1	Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2						bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|central nervous system neuron development (GO:0021954)|glucosylceramide catabolic process (GO:0006680)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)	beta-glucosidase activity (GO:0008422)|glucosylceramidase activity (GO:0004348)			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CAAATCTCACAAGGAAGGGAGGAT	0.583											OREG0019176	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000353704.2																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|urinary_tract(1)	9						c.(1048-1053)acfs		cAMP responsive element binding protein 3																																				SO:0001628	intergenic_variant	10488				chemotaxis|induction of positive chemotaxis|interspecies interaction between organisms|negative regulation of cell cycle|positive regulation of calcium ion transport|positive regulation of cell migration|positive regulation of transcription, DNA-dependent|reactivation of latent virus|regulation of cell proliferation	cytosol|endoplasmic reticulum|endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|nucleus	cAMP response element binding protein binding|CCR1 chemokine receptor binding|DNA binding|protein dimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity	g.chr9:35736657_35736660delAAGG	AJ309567	CCDS6589.1	9p13.2	2013-09-11			ENSG00000070610	ENSG00000070610			18986	protein-coding gene	gene with protein product	"""bile acid beta-glucosidase"", ""non-lysosomal glucosylceramidase"""	609471	"""spastic paraplegia 46 (autosomal recessive)"""	SPG46		11489889, 23332916, 23332917	Standard	NM_020944		Approved	KIAA1605, AD035, DKFZp762K054	uc003zxw.3	Q9HCG7	OTTHUMG00000021024		9.37:g.35736661_35736664delAAGG			OREG0019176	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	857	CREB3_ENST00000486056.1_3'UTR	p.TR350fs	NM_006368.4	NP_006359.3	O43889	CREB3_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)	GBM - Glioblastoma multiforme(74;0.0285)	9	1488_1491	+	all_epithelial(49;0.167)		374			Pro-rich.		D3DRP2|Q5TCV6|Q96A51|Q96LY1|Q96SJ2|Q9H2L8	Frame_Shift_Del	DEL	ENST00000378103.3	37	c.1050_1053delAAGG	CCDS6589.1																																																																																				0.583	GBA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055456.1	NM_020944		65	224						65	224	---	---	---	---
MEGF9	1955	broad.mit.edu	37	9	123374758	123374760	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr9:123374758_123374760delCTT	ENST00000373930.3	-	4	1112_1114	c.1001_1003delAAG	c.(1000-1005)gaagga>gga	p.E334del	MEGF9_ENST00000426959.1_In_Frame_Del_p.E371del	NM_001080497.2	NP_001073966.2	Q9H1U4	MEGF9_HUMAN	multiple EGF-like-domains 9	334	Laminin EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00460}.					integral component of membrane (GO:0016021)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	16						TGATAAAATCCTTCTTTACATTC	0.374																																						ENST00000373930.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	16						c.(1000-1005)gga>g		multiple EGF-like-domains 9																																				SO:0001651	inframe_deletion	1955					integral to membrane	calcium ion binding	g.chr9:123374758_123374760delCTT	AB011542	CCDS48010.1, CCDS48010.2	9q32-q33.3	2008-07-21	2006-03-31	2006-03-31	ENSG00000106780	ENSG00000106780			3234	protein-coding gene	gene with protein product		604268	"""EGF-like-domain, multiple 5"""	EGFL5		9693030	Standard	NM_001080497		Approved		uc022bms.1	Q9H1U4	OTTHUMG00000021039	ENST00000373930.3:c.1001_1003delAAG	9.37:g.123374761_123374763delCTT	ENSP00000363040:p.Glu334del					MEGF9_ENST00000426959.1_In_Frame_Del_p.EG371del	p.EG334del	NM_001080497.2	NP_001073966.2	Q9H1U4	MEGF9_HUMAN			4	1112_1114	-			334			Laminin EGF-like 3.		B7Z315|O75098	In_Frame_Del	DEL	ENST00000373930.3	37	c.1001_1003delAAG	CCDS48010.2																																																																																				0.374	MEGF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055513.1	NM_001080497		13	27						13	27	---	---	---	---
NOTCH1	4851	broad.mit.edu	37	9	139412725	139412727	+	In_Frame_Del	DEL	GTT	GTT	-	rs368588745		TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr9:139412725_139412727delGTT	ENST00000277541.6	-	7	1192_1194	c.1117_1119delAAC	c.(1117-1119)aacdel	p.N373del	MIR4673_ENST00000584777.1_RNA	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	373	EGF-like 10. {ECO:0000255|PROSITE- ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TGCATGCGTCGTTGAGGTGGCAC	0.67			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"""T, Mis, O"""	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		0				breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(1117-1119)del		notch 1																																				SO:0001651	inframe_deletion	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139412725_139412727delGTT	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.1117_1119delAAC	9.37:g.139412725_139412727delGTT	ENSP00000277541:p.Asn373del	HNSCC(8;0.001)					p.N373del	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	7	1192_1194	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	373			EGF-like 10.		Q59ED8|Q5SXM3	In_Frame_Del	DEL	ENST00000277541.6	37	c.1117_1119delAAC	CCDS43905.1																																																																																				0.670	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		13	23						13	23	---	---	---	---
KAT6B	23522	broad.mit.edu	37	10	76784946	76784949	+	Frame_Shift_Del	DEL	ACAA	ACAA	-			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr10:76784946_76784949delACAA	ENST00000287239.4	+	17	4092_4095	c.3603_3606delACAA	c.(3601-3606)agacaafs	p.RQ1201fs	KAT6B_ENST00000490365.1_3'UTR|RP11-77G23.2_ENST00000413431.1_RNA|KAT6B_ENST00000372714.1_Frame_Shift_Del_p.RQ909fs|RP11-77G23.5_ENST00000436608.1_RNA|KAT6B_ENST00000372725.1_Frame_Shift_Del_p.RQ909fs|KAT6B_ENST00000372711.1_Frame_Shift_Del_p.RQ1018fs|KAT6B_ENST00000372724.1_Frame_Shift_Del_p.RQ909fs	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	1201					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										GGAAGAAAAGACAAACAGAGGAAG	0.451																																						ENST00000287239.4																			0											c.(3601-3606)agfs		K(lysine) acetyltransferase 6B																																				SO:0001589	frameshift_variant	23522				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding	g.chr10:76784946_76784949delACAA	AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	17582	protein-coding gene	gene with protein product	"""MOZ-related factor"""	605880	"""MYST histone acetyltransferase (monocytic leukemia) 4"""	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.3603_3606delACAA	10.37:g.76784946_76784949delACAA	ENSP00000287239:p.Arg1201fs					KAT6B_ENST00000372724.1_Frame_Shift_Del_p.RQ909fs|KAT6B_ENST00000490365.1_3'UTR|KAT6B_ENST00000372714.1_Frame_Shift_Del_p.RQ909fs|KAT6B_ENST00000372711.1_Frame_Shift_Del_p.RQ1018fs|KAT6B_ENST00000372725.1_Frame_Shift_Del_p.RQ909fs	p.RQ1201fs	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN			17	4092_4095	+			1201					O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Frame_Shift_Del	DEL	ENST00000287239.4	37	c.3603_3606delACAA	CCDS7345.1																																																																																				0.451	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048771.1	NM_012330		13	35						13	35	---	---	---	---
SERPING1	710	broad.mit.edu	37	11	57365774	57365776	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr11:57365774_57365776delCTG	ENST00000278407.4	+	2	258_260	c.31_33delCTG	c.(31-33)ctgdel	p.L15del	SERPING1_ENST00000340687.6_In_Frame_Del_p.L15del|SERPING1_ENST00000403558.1_In_Frame_Del_p.L49del|SERPING1_ENST00000378323.4_In_Frame_Del_p.L15del|SERPING1_ENST00000378324.2_Intron	NM_000062.2	NP_000053.2	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G (C1 inhibitor), member 1	15					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|complement activation, classical pathway (GO:0006958)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						GCTGACCCTCCTGCTGCTGCTGC	0.714																																						ENST00000403558.1																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						c.(133-135)del		serpin peptidase inhibitor, clade G (C1 inhibitor), member 1			,	70,4042		1,68,1987					,	0.6	1.0			7	176,7928		6,164,3882	no	coding,coding	SERPING1	NM_001032295.1,NM_000062.2	,	7,232,5869	A1A1,A1R,RR		2.1718,1.7023,2.0138	,	,		246,11970				SO:0001651	inframe_deletion	710				blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity	g.chr11:57365774_57365776delCTG	X54486	CCDS7962.1	11q12.1	2014-09-17	2008-07-31		ENSG00000149131	ENSG00000149131		"""Serine (or cysteine) peptidase inhibitors"""	1228	protein-coding gene	gene with protein product	"""plasma protease C1 inhibitor"", ""angioedema, hereditary"""	606860	"""serine (or cysteine) proteinase inhibitor, clade G (C1 inhibitor), member 1, (angioedema, hereditary)"""	C1NH		2026152, 24172014	Standard	NM_000062		Approved	C1IN, C1-INH, HAE1, HAE2	uc001nkp.1	P05155	OTTHUMG00000150304	ENST00000278407.4:c.31_33delCTG	11.37:g.57365783_57365785delCTG	ENSP00000278407:p.Leu15del					SERPING1_ENST00000378323.4_In_Frame_Del_p.L15del|SERPING1_ENST00000378324.2_Intron|SERPING1_ENST00000278407.4_In_Frame_Del_p.L15del|SERPING1_ENST00000340687.6_In_Frame_Del_p.L15del	p.L49del	NM_001032295.1	NP_001027466.1	P05155	IC1_HUMAN			1	499_501	+			15					A6NMU0|A8KAI9|B2R6L5|B4E1F0|B4E1H2|Q16304|Q547W3|Q59EI5|Q7Z455|Q96FE0|Q9UC49|Q9UCF9	In_Frame_Del	DEL	ENST00000278407.4	37	c.133_135delCTG	CCDS7962.1																																																																																				0.714	SERPING1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317465.1	NM_000062		3	5						3	5	---	---	---	---
DNAJC4	3338	broad.mit.edu	37	11	63997567	63997567	+	5'Flank	DEL	A	A	-	rs10708923|rs63552063	byFrequency	TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr11:63997567delA	ENST00000321685.3	+	0	0				RP11-783K16.14_ENST00000534988.1_RNA|DNAJC4_ENST00000321460.5_5'Flank|DNAJC4_ENST00000355040.4_5'Flank|RP11-783K16.14_ENST00000539963.1_RNA	NM_005528.3	NP_005519.2	Q9NNZ3	DNJC4_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 4						protein folding (GO:0006457)|response to unfolded protein (GO:0006986)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	unfolded protein binding (GO:0051082)			endometrium(1)|lung(1)|prostate(1)	3						GTGACTTGGGAAAAAAAAAAA	0.498													|||unknown(HR)	2125	0.424321	0.4319	0.3833	5008	,	,		15038	0.4623		0.3926	False		,,,				2504	0.4366					ENST00000534988.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr11:63997567delA	AF012106	CCDS41666.1	11q13	2011-09-02			ENSG00000110011	ENSG00000110011		"""Heat shock proteins / DNAJ (HSP40)"""	5271	protein-coding gene	gene with protein product		604189		HSPF2		9473517, 11147971	Standard	NM_005528		Approved	MCG18	uc001nys.3	Q9NNZ3	OTTHUMG00000167792		11.37:g.63997567delA	Exception_encountered													0	99	-								O14716	RNA	DEL	ENST00000321685.3	37		CCDS41666.1																																																																																				0.498	DNAJC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396305.1			3	4						3	4	---	---	---	---
PLEKHB1	58473	broad.mit.edu	37	11	73362876	73362877	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr11:73362876_73362877delTG	ENST00000354190.5	+	4	722_723	c.291_292delTG	c.(289-294)actgtgfs	p.V98fs	PLEKHB1_ENST00000398492.4_Frame_Shift_Del_p.V98fs|PLEKHB1_ENST00000544532.1_3'UTR|PLEKHB1_ENST00000543085.1_Frame_Shift_Del_p.V28fs|PLEKHB1_ENST00000535129.1_Frame_Shift_Del_p.V79fs|PLEKHB1_ENST00000227214.6_Frame_Shift_Del_p.V79fs|PLEKHB1_ENST00000398494.4_Frame_Shift_Del_p.V79fs	NM_021200.2	NP_067023.1	Q9UF11	PKHB1_HUMAN	pleckstrin homology domain containing, family B (evectins) member 1	98	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				multicellular organismal development (GO:0007275)|phototransduction (GO:0007602)|regulation of cell differentiation (GO:0045595)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	signal transducer activity (GO:0004871)			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	7						GCCTGCTGACTGTGAACCTACG	0.624																																						ENST00000354190.5																			0				endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	7						c.(289-294)actgfs		pleckstrin homology domain containing, family B (evectins) member 1																																				SO:0001589	frameshift_variant	58473				multicellular organismal development|phototransduction	cytoplasm|integral to membrane	signal transducer activity	g.chr11:73362876_73362877delTG	AF081583	CCDS44672.1, CCDS44673.1, CCDS44674.1, CCDS44675.1	11q13.5-q14.1	2013-01-10	2002-11-04	2002-11-08	ENSG00000021300	ENSG00000021300		"""Pleckstrin homology (PH) domain containing"""	19079	protein-coding gene	gene with protein product		607651	"""PH domain containing, retinal 1"""	PHRET1		10585447	Standard	NM_021200		Approved	PHR1, KPL1	uc001ouc.3	Q9UF11	OTTHUMG00000168030	ENST00000354190.5:c.291_292delTG	11.37:g.73362878_73362879delTG	ENSP00000346127:p.Val98fs					PLEKHB1_ENST00000544532.1_3'UTR|PLEKHB1_ENST00000398494.4_Frame_Shift_Del_p.TV78fs|PLEKHB1_ENST00000535129.1_Frame_Shift_Del_p.TV78fs|PLEKHB1_ENST00000398492.4_Frame_Shift_Del_p.TV97fs|PLEKHB1_ENST00000227214.6_Frame_Shift_Del_p.TV78fs|PLEKHB1_ENST00000543085.1_Frame_Shift_Del_p.TV27fs	p.TV97fs	NM_021200.2	NP_067023.1	Q9UF11	PKHB1_HUMAN			4	722_723	+			97			PH.		A8K0Q5|B2RBP1|B7Z716|Q9UBF5|Q9UI37|Q9UI44	Frame_Shift_Del	DEL	ENST00000354190.5	37	c.291_292delTG	CCDS44672.1																																																																																				0.624	PLEKHB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397593.1			22	35						22	35	---	---	---	---
OVOS2	144203	broad.mit.edu	37	12	31269929	31269930	+	RNA	DEL	TT	TT	-			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr12:31269929_31269930delTT	ENST00000542490.1	-	0	52																				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(25)|prostate(3)|stomach(3)|urinary_tract(1)	41						AGTCTGACTCTTTTACTGGCAA	0.401																																						ENST00000542490.1																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(25)|prostate(3)|stomach(3)|urinary_tract(1)	41																																														0							g.chr12:31269929_31269930delTT																													12.37:g.31269931_31269932delTT														0	52	-									RNA	DEL	ENST00000542490.1	37																																																																																						0.401	RP11-551L14.1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000400342.1			15	23						15	23	---	---	---	---
ZFC3H1	196441	broad.mit.edu	37	12	72057256	72057258	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr12:72057256_72057258delGCT	ENST00000378743.3	-	1	491_493	c.133_135delAGC	c.(133-135)agcdel	p.S45del	THAP2_ENST00000547843.1_5'Flank|ZFC3H1_ENST00000548100.1_In_Frame_Del_p.S45del|ZFC3H1_ENST00000549407.1_5'Flank|THAP2_ENST00000308086.2_5'UTR|ZFC3H1_ENST00000552037.1_In_Frame_Del_p.S45del	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	45	Ser-rich.				RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						GCCCGCCGCCGCTGCTGCTGCTG	0.631											OREG0021993	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000378743.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(133-135)del		zinc finger, C3H1-type containing				2,34,3866		0,0,2,4,26,1919						4.0	1.0			58	1,83,7932		0,0,1,9,65,3933	no	codingComplex	ZFC3H1	NM_144982.4		0,0,3,13,91,5852	A1A1,A1A2,A1R,A2A2,A2R,RR		1.0479,0.9226,1.0069				3,117,11798				SO:0001651	inframe_deletion	196441				RNA processing	intracellular	metal ion binding	g.chr12:72057256_72057258delGCT	AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"""Zinc finger, C3H1-type containing"""	28328	protein-coding gene	gene with protein product			"""proline/serine-rich coiled-coil 2"", ""coiled-coil domain containing 131"""	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.133_135delAGC	12.37:g.72057265_72057267delGCT	ENSP00000368017:p.Ser45del		OREG0021993	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1134	ZFC3H1_ENST00000552037.1_In_Frame_Del_p.S45del|THAP2_ENST00000308086.2_5'UTR|ZFC3H1_ENST00000548100.1_In_Frame_Del_p.S45del	p.S45del	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN			1	491_493	-			45			Ser-rich.		Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	In_Frame_Del	DEL	ENST00000378743.3	37	c.133_135delAGC	CCDS41813.1																																																																																				0.631	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1	NM_144982		7	267						7	267	---	---	---	---
EP400	57634	broad.mit.edu	37	12	132547093	132547094	+	In_Frame_Ins	INS	-	-	CAG	rs10902490|rs113304321|rs528214697	byFrequency	TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr12:132547093_132547094insCAG	ENST00000333577.4	+	48	8398_8399	c.8289_8290insCAG	c.(8290-8292)cag>CAGcag	p.2764_2764Q>QQ	EP400_ENST00000332482.4_In_Frame_Ins_p.2691_2691Q>QQ|EP400_ENST00000389561.2_In_Frame_Ins_p.2728_2728Q>QQ|EP400_ENST00000389562.2_In_Frame_Ins_p.2727_2727Q>QQ|EP400_ENST00000330386.6_In_Frame_Ins_p.2647_2647Q>QQ			Q96L91	EP400_HUMAN	E1A binding protein p400	2764	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2726Q(9)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcaacaacagcagcagca	0.564														1869	0.373203	0.3427	0.513	5008	,	,		15674	0.2391		0.4722	False		,,,				2504	0.3517					ENST00000333577.4																			9	Substitution - coding silent(9)	p.Q2726Q(9)	lung(3)|kidney(2)|endometrium(2)|central_nervous_system(2)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8287-8292)caagca>caCAGagca		E1A binding protein p400																																				SO:0001652	inframe_insertion	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547093_132547094insCAG	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8329_8331dupCAG	12.37:g.132547100_132547102dupCAG	ENSP00000333602:p.Gln2784dup					EP400_ENST00000330386.6_In_Frame_Ins_p.2646_2646Q>HR|EP400_ENST00000332482.4_In_Frame_Ins_p.2690_2690Q>HR|EP400_ENST00000389561.2_In_Frame_Ins_p.2727_2727Q>HR|EP400_ENST00000389562.2_In_Frame_Ins_p.2726_2726Q>HR	p.2763_2763Q>HR			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8398_8399	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2763			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	In_Frame_Ins	INS	ENST00000333577.4	37	c.8289_8290insCAG																																																																																					0.564	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		35	85						35	85	---	---	---	---
HERC2P9	440248	broad.mit.edu	37	15	28913367	28913367	+	RNA	DEL	T	T	-			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr15:28913367delT	ENST00000528584.1	+	0	1224					NR_036443.1				hect domain and RLD 2 pseudogene 9																		TGAGTTCTCCTTTTTTTTTTT	0.308																																						ENST00000528584.1																			0																																																			0							g.chr15:28913367delT	BC047911		15q13.1	2011-05-24			ENSG00000206149	ENSG00000206149			30495	pseudogene	pseudogene							Standard	NR_036443		Approved	FLJ59185	uc010azc.3		OTTHUMG00000167114		15.37:g.28913367delT								NR_036443.1						0	1224	+									RNA	DEL	ENST00000528584.1	37																																																																																						0.308	HERC2P9-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000393268.1	NR_036443		3	5						3	5	---	---	---	---
TCF12	6938	broad.mit.edu	37	15	57484478	57484479	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr15:57484478_57484479delCT	ENST00000267811.5	+	7	817_818	c.513_514delCT	c.(511-516)gactctfs	p.S172fs	TCF12_ENST00000438423.2_Frame_Shift_Del_p.S172fs|TCF12_ENST00000333725.5_Frame_Shift_Del_p.S172fs|TCF12_ENST00000452095.2_Frame_Shift_Del_p.S168fs|TCF12_ENST00000557843.1_Frame_Shift_Del_p.S172fs	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	172					immune response (GO:0006955)|muscle organ development (GO:0007517)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		CACTCCATGACTCTGCAGCGCT	0.46			T	TEC	extraskeletal myxoid chondrosarcoma																																	ENST00000267811.5				Dom	yes		15	15q21	6938	T	"""transcription factor 12 (HTF4, helix-loop-helix transcription factors 4)"""			M	TEC		extraskeletal myxoid chondrosarcoma	TCF12/NR4A3(2)	0				breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36						c.(511-516)gactfs		transcription factor 12																																				SO:0001589	frameshift_variant	6938				immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr15:57484478_57484479delCT	BC050556	CCDS10159.1, CCDS10160.1, CCDS42042.1	15q21	2013-05-21	2008-07-31		ENSG00000140262	ENSG00000140262		"""Basic helix-loop-helix proteins"""	11623	protein-coding gene	gene with protein product	"""helix-loop-helix transcription factor 4"""	600480				1886779	Standard	NM_003205		Approved	HEB, HTF4, HsT17266, bHLHb20	uc002aeb.3	Q99081	OTTHUMG00000132047	ENST00000267811.5:c.513_514delCT	15.37:g.57484480_57484481delCT	ENSP00000267811:p.Ser172fs					TCF12_ENST00000438423.2_Frame_Shift_Del_p.DS171fs|TCF12_ENST00000333725.5_Frame_Shift_Del_p.DS171fs|TCF12_ENST00000557843.1_Frame_Shift_Del_p.DS171fs|TCF12_ENST00000452095.2_Frame_Shift_Del_p.DS167fs	p.DS171fs	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)	7	817_818	+		Colorectal(260;0.0907)	171					Q7Z3D9|Q86TC1|Q86VM2	Frame_Shift_Del	DEL	ENST00000267811.5	37	c.513_514delCT	CCDS10159.1																																																																																				0.460	TCF12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255069.3	NM_003205		40	84						40	84	---	---	---	---
MESP2	145873	broad.mit.edu	37	15	90320121	90320144	+	In_Frame_Del	DEL	AGGGGCAGGGGCAAGGGCAGGGGC	AGGGGCAGGGGCAAGGGCAGGGGC	-	rs56192595|rs200021459|rs199821487	byFrequency	TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr15:90320121_90320144delAGGGGCAGGGGCAAGGGCAGGGGC	ENST00000341735.3	+	1	533_556	c.533_556delAGGGGCAGGGGCAAGGGCAGGGGC	c.(532-558)gaggggcaggggcaagggcaggggcag>gag	p.GQGQGQGQ195del	MESP2_ENST00000558723.1_Intron|MESP2_ENST00000560219.1_Intron	NM_001039958.1	NP_001035047.1	Q0VG99	MESP2_HUMAN	mesoderm posterior basic helix-loop-helix transcription factor 2	195	13 X 2 AA tandem repeats of G-Q.				mesodermal cell migration (GO:0008078)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q198_G205delQGQGQGQG(1)		kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)			ACGCaggcggaggggcaggggcaagggcaggggcaggggcaggg	0.777														3487	0.696286	0.4168	0.7824	5008	,	,		13432	0.8879		0.7654	False		,,,				2504	0.7444					ENST00000341735.3																			1	Deletion - In frame(1)	p.Q198_G205delQGQGQGQG(1)	upper_aerodigestive_tract(1)	kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						c.(532-558)gag>g		mesoderm posterior 2 homolog (mouse)				995,777		385,225,276						0.1	0.0		dbSNP_129	3	3389,1453		1404,581,436	no	coding	MESP2	NM_001039958.1		1789,806,712	A1A1,A1R,RR		30.0083,43.8488,33.7164				4384,2230				SO:0001651	inframe_deletion	145873				Notch signaling pathway	nucleus	DNA binding	g.chr15:90320121_90320144delAGGGGCAGGGGCAAGGGCAGGGGC		CCDS42078.1	15q26.1	2014-06-30	2014-06-30			ENSG00000188095		"""Basic helix-loop-helix proteins"""	29659	protein-coding gene	gene with protein product		605195	"""mesoderm posterior 2 homolog (mouse)"""			11578861	Standard	NM_001039958		Approved	SCDO2, bHLHc6	uc002bon.3	Q0VG99		ENST00000341735.3:c.533_556delAGGGGCAGGGGCAAGGGCAGGGGC	15.37:g.90320121_90320144delAGGGGCAGGGGCAAGGGCAGGGGC	ENSP00000342392:p.Gly195_Gln202del					MESP2_ENST00000560219.1_Intron|MESP2_ENST00000558723.1_Intron	p.EGQGQGQGQ178del	NM_001039958.1	NP_001035047.1	Q0VG99	MESP2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)		1	533_556	+	Lung NSC(78;0.0221)|all_lung(78;0.0448)		178					Q7RTU2	In_Frame_Del	DEL	ENST00000341735.3	37	c.533_556delAGGGGCAGGGGCAAGGGCAGGGGC	CCDS42078.1																																																																																				0.777	MESP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416421.1	XM_085261		6	4						6	4	---	---	---	---
WDR90	197335	broad.mit.edu	37	16	709106	709106	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr16:709106delC	ENST00000293879.4	+	25	3032	c.3032delC	c.(3031-3033)gccfs	p.A1011fs	WDR90_ENST00000549091.1_Frame_Shift_Del_p.A1011fs|LA16c-349E10.1_ENST00000573609.1_RNA			Q96KV7	WDR90_HUMAN	WD repeat domain 90	1011										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				TTCCCCGGGGCCCCCCCAGCC	0.657																																						ENST00000549091.1																			0				endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37						c.(3031-3033)gcfs		WD repeat domain 90							45.0	56.0	53.0					16																	709106		1960	4181	6141	SO:0001589	frameshift_variant	197335							g.chr16:709106delC	AB067511	CCDS42092.1	16p13.3	2013-01-09			ENSG00000161996	ENSG00000161996		"""WD repeat domain containing"""	26960	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 17"", ""chromosome 16 open reading frame 15"", ""chromosome 16 open reading frame 16"", ""chromosome 16 open reading frame 19"", ""chromosome 16 open reading frame 18"""	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18		11572484, 11157797	Standard	XM_005255160		Approved	FLJ36483, KIAA1924	uc002cii.1	Q96KV7	OTTHUMG00000048040	ENST00000293879.4:c.3032delC	16.37:g.709106delC	ENSP00000293879:p.Ala1011fs					WDR90_ENST00000293879.4_Frame_Shift_Del_p.A1011fs	p.A1011fs	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN			25	3124	+		Hepatocellular(780;0.0218)	1011					Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Frame_Shift_Del	DEL	ENST00000293879.4	37	c.3032delC	CCDS42092.1																																																																																				0.657	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404335.1	NM_145294		7	148						7	148	---	---	---	---
KCNG4	93107	broad.mit.edu	37	16	84270753	84270755	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr16:84270753_84270755delGAA	ENST00000308251.4	-	2	405_407	c.337_339delTTC	c.(337-339)ttcdel	p.F113del	KCNG4_ENST00000568181.1_In_Frame_Del_p.F113del	NM_172347.2	NP_758857.1	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	113					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						GGCTCCTGTCGAAGAAGAACTCC	0.626																																						ENST00000568181.1																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						c.(337-339)del		potassium voltage-gated channel, subfamily G, member 4				2,4262		1,0,2131						5.1	1.0			60	9,8245		4,1,4122	no	coding	KCNG4	NM_172347.2		5,1,6253	A1A1,A1R,RR		0.109,0.0469,0.0879				11,12507				SO:0001651	inframe_deletion	93107					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr16:84270753_84270755delGAA	AF348984	CCDS10945.1	16q24.1	2011-07-05			ENSG00000168418	ENSG00000168418		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	19697	protein-coding gene	gene with protein product		607603				12060745, 16382104	Standard	NM_172347		Approved	Kv6.4	uc010voc.2	Q8TDN1	OTTHUMG00000137638	ENST00000308251.4:c.337_339delTTC	16.37:g.84270759_84270761delGAA	ENSP00000312129:p.Phe113del					KCNG4_ENST00000308251.4_In_Frame_Del_p.F113del	p.F113del			Q8TDN1	KCNG4_HUMAN			2	457_459	-			113					Q96H24	In_Frame_Del	DEL	ENST00000308251.4	37	c.337_339delTTC	CCDS10945.1																																																																																				0.626	KCNG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269079.2	NM_172347		28	73						28	73	---	---	---	---
C3P1	388503	broad.mit.edu	37	19	10157411	10157413	+	RNA	DEL	GAA	GAA	-			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr19:10157411_10157413delGAA	ENST00000495140.1	+	0	1010_1012							Q6ZMU1	C3P1_HUMAN	complement component 3 precursor pseudogene							extracellular space (GO:0005615)	endopeptidase inhibitor activity (GO:0004866)			endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1)	13						TCCAGCGGATGAAGAAGAGGACT	0.527																																						ENST00000495140.1																			0				endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1)	13																																														0							g.chr19:10157411_10157413delGAA	AK131489		19p13.2	2009-04-08			ENSG00000167798	ENSG00000167798			34414	pseudogene	pseudogene							Standard	NR_027300		Approved	CPLP	uc010dwx.2	Q6ZMU1	OTTHUMG00000158555		19.37:g.10157414_10157416delGAA														0	1010_1012	+									RNA	DEL	ENST00000495140.1	37																																																																																						0.527	C3P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000351284.1	NR_027300		14	31						14	31	---	---	---	---
CIC	23152	broad.mit.edu	37	19	42794910	42794911	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr19:42794910_42794911delCT	ENST00000575354.2	+	10	2030_2031	c.1990_1991delCT	c.(1990-1992)ctgfs	p.L664fs	CIC_ENST00000160740.3_Frame_Shift_Del_p.L664fs|CIC_ENST00000572681.2_Frame_Shift_Del_p.L1573fs	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	664	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				AGCAGCTCCCCTGTCCCGTCCT	0.688			"""Mis, F, S"""		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"""Mis, F, S"""	capicua homolog			O			oligodendroglioma		0				autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82						c.(4717-4719)gfs		capicua transcriptional repressor																																				SO:0001589	frameshift_variant	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42794910_42794911delCT	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.1990_1991delCT	19.37:g.42794910_42794911delCT	ENSP00000458663:p.Leu664fs					CIC_ENST00000160740.3_Frame_Shift_Del_p.L664fs|CIC_ENST00000575354.2_Frame_Shift_Del_p.L664fs	p.L1573fs			Q96RK0	CIC_HUMAN			11	4785_4786	+		Prostate(69;0.00682)	664			Pro-rich.		Q7LGI1|Q9UEG5|Q9Y6T1	Frame_Shift_Del	DEL	ENST00000575354.2	37	c.4717_4718delCT	CCDS12601.1																																																																																				0.688	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			17	9						17	9	---	---	---	---
