#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
FRG1B	284802	broad.mit.edu	37	20	29628236	29628236	+	Missense_Mutation	SNP	G	G	C			TCGA-V1-A9O7-01A-21D-A41K-08	TCGA-V1-A9O7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d67abdf6-e826-413f-b727-c871fac872c0	e26ab21d-ac72-4d81-b54d-2b6673106efc	g.chr20:29628236G>C	ENST00000278882.3	+	6	618	c.238G>C	c.(238-240)Gct>Cct	p.A80P	FRG1B_ENST00000439954.2_Missense_Mutation_p.A85P|FRG1B_ENST00000358464.4_Missense_Mutation_p.A80P			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	80								p.A80P(8)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGGAAAATGGCTTTGTTGGC	0.363																																						ENST00000278882.3																			8	Substitution - Missense(8)	p.A80P(8)	prostate(4)|kidney(4)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(238-240)Gct>Cct																																						SO:0001583	missense	0							g.chr20:29628236G>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.238G>C	20.37:g.29628236G>C	ENSP00000278882:p.Ala80Pro					FRG1B_ENST00000358464.4_Missense_Mutation_p.A80P|FRG1B_ENST00000439954.2_Missense_Mutation_p.A85P	p.A80P							6	618	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.238G>C		.	.	.	.	.	.	.	.	.	.	g	15.73	2.920277	0.52653	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.57595	0.39	2.08	2.08	0.27032	Actin cross-linking (1);	0.052409	0.85682	D	0.000000	T	0.68952	0.3057	.	.	.	0.80722	D	1	D;D	0.64830	0.994;0.988	D;D	0.85130	0.997;0.993	T	0.72766	-0.4194	9	0.87932	D	0	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	85;80	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	P	80;85;80	ENSP00000408863:A85P	ENSP00000278882:A80P	A	+	1	0	FRG1B	28241897	1.000000	0.71417	1.000000	0.80357	0.334000	0.28698	8.494000	0.90477	1.475000	0.48197	0.423000	0.28283	GCT		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	105	0	0	0	1	0	4	105				
LILRA3	11026	broad.mit.edu	37	19	54802057	54802057	+	Silent	SNP	C	C	T			TCGA-V1-A9O7-01A-21D-A41K-08	TCGA-V1-A9O7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d67abdf6-e826-413f-b727-c871fac872c0	e26ab21d-ac72-4d81-b54d-2b6673106efc	g.chr19:54802057C>T	ENST00000251390.3	-	6	1222	c.1131G>A	c.(1129-1131)aaG>aaA	p.K377K	LILRA3_ENST00000391744.3_Silent_p.K313K|LILRA3_ENST00000391745.1_Silent_p.K394K	NM_006865.3	NP_006856.3	Q8N6C8	LIRA3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3	377	Ig-like C2-type 4.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CAGCCTGGTACTTATGAGATT	0.572																																						ENST00000391745.1																			0				NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1180-1182)aaG>aaA		leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3							131.0	117.0	122.0					19																	54802057		2193	4173	6366	SO:0001819	synonymous_variant	0							g.chr19:54802057C>T	U91926		19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6604	protein-coding gene	gene with protein product		604818				9278324, 9548455	Standard	XM_006710242		Approved	LIR-4, HM43, ILT6, HM31, LIR4, CD85e		Q8N6C8		ENST00000251390.3:c.1131G>A	19.37:g.54802057C>T						LILRA3_ENST00000391744.3_Silent_p.K313K|LILRA3_ENST00000251390.3_Silent_p.K377K	p.K394K						GBM - Glioblastoma multiforme(193;0.105)	10	1498	-	Ovarian(34;0.19)							J3KPM2|O15469|O15470|O75016|Q8N151|Q8N154|Q8NHJ1|Q8NHJ2|Q8NHJ3|Q8NHJ4	Silent	SNP	ENST00000251390.3	37	c.1182G>A	CCDS12887.1																																																																																				0.572	LILRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140236.1			12	135	0	0	0	1	0	12	135				
GRIA1	2890	broad.mit.edu	37	5	153190676	153190676	+	Missense_Mutation	SNP	G	G	T			TCGA-V1-A9O7-01A-21D-A41K-08	TCGA-V1-A9O7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d67abdf6-e826-413f-b727-c871fac872c0	e26ab21d-ac72-4d81-b54d-2b6673106efc	g.chr5:153190676G>T	ENST00000285900.5	+	16	2955	c.2612G>T	c.(2611-2613)gGc>gTc	p.G871V	GRIA1_ENST00000518783.1_Missense_Mutation_p.G881V|GRIA1_ENST00000340592.5_Missense_Mutation_p.G871V|GRIA1_ENST00000518142.1_Missense_Mutation_p.G791V|GRIA1_ENST00000521843.2_Missense_Mutation_p.G802V|GRIA1_ENST00000448073.4_Missense_Mutation_p.G881V	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	871					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	AGCAGCGGCGGCAGTGGAGAG	0.582																																						ENST00000285900.5																			0				NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81						c.(2611-2613)gGc>gTc		glutamate receptor, ionotropic, AMPA 1	Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						47.0	50.0	49.0					5																	153190676		2203	4300	6503	SO:0001583	missense	0				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	g.chr5:153190676G>T		CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.2612G>T	5.37:g.153190676G>T	ENSP00000285900:p.Gly871Val					GRIA1_ENST00000340592.5_Missense_Mutation_p.G871V|GRIA1_ENST00000518783.1_Missense_Mutation_p.G881V|GRIA1_ENST00000518142.1_Missense_Mutation_p.G791V|GRIA1_ENST00000521843.2_Missense_Mutation_p.G802V|GRIA1_ENST00000448073.4_Missense_Mutation_p.G881V	p.G871V	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		16	2955	+		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	871					B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Missense_Mutation	SNP	ENST00000285900.5	37	c.2612G>T	CCDS4322.1	.	.	.	.	.	.	.	.	.	.	G	12.84	2.057991	0.36277	.	.	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000518142;ENST00000340592;ENST00000521843;ENST00000544794;ENST00000518783;ENST00000448073	T;T;T;T;T;T;T	0.12255	2.75;2.7;2.75;2.7;2.7;2.75;2.75	3.78	3.78	0.43462	.	0.097829	0.64402	D	0.000001	T	0.21267	0.0512	N	0.22421	0.69	0.80722	D	1	B;B;B;D;B	0.69078	0.043;0.043;0.105;0.997;0.032	B;B;B;D;B	0.72982	0.016;0.016;0.022;0.979;0.027	T	0.01448	-1.1352	10	0.72032	D	0.01	.	11.4288	0.50027	0.0:0.0:1.0:0.0	.	881;881;791;871;871	E7ESV8;B7Z9G9;B7Z3F6;P42261-2;P42261	.;.;.;.;GRIA1_HUMAN	V	871;871;791;871;804;802;881;881	ENSP00000285900:G871V;ENSP00000427920:G791V;ENSP00000339343:G871V;ENSP00000427864:G804V;ENSP00000442108:G802V;ENSP00000428994:G881V;ENSP00000415569:G881V	ENSP00000285900:G871V	G	+	2	0	GRIA1	153170869	1.000000	0.71417	0.995000	0.50966	0.991000	0.79684	4.841000	0.62824	2.399000	0.81585	0.655000	0.94253	GGC		0.582	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3			11	45	1	0	2.80697e-09	1	3.04587e-09	11	45				
RP1	6101	broad.mit.edu	37	8	55542654	55542654	+	Missense_Mutation	SNP	T	T	C			TCGA-V1-A9O7-01A-21D-A41K-08	TCGA-V1-A9O7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d67abdf6-e826-413f-b727-c871fac872c0	e26ab21d-ac72-4d81-b54d-2b6673106efc	g.chr8:55542654T>C	ENST00000220676.1	+	4	6360	c.6212T>C	c.(6211-6213)tTa>tCa	p.L2071S		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	2071					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AATAACAACTTATTAAATAAC	0.363																																					Colon(91;1014 1389 7634 14542 40420)	ENST00000220676.1																			0				NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169						c.(6211-6213)tTa>tCa		retinitis pigmentosa 1 (autosomal dominant)							46.0	47.0	47.0					8																	55542654		2203	4300	6503	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55542654T>C	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.6212T>C	8.37:g.55542654T>C	ENSP00000220676:p.Leu2071Ser						p.L2071S	NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	6360	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	2071						Missense_Mutation	SNP	ENST00000220676.1	37	c.6212T>C	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	T	14.13	2.443830	0.43429	.	.	ENSG00000104237	ENST00000220676	T	0.35789	1.29	5.76	5.76	0.90799	.	0.699696	0.12421	N	0.470382	T	0.47525	0.1450	L	0.50333	1.59	0.22142	N	0.999332	D	0.57899	0.981	P	0.55161	0.77	T	0.43065	-0.9414	10	0.87932	D	0	.	10.6571	0.45682	0.0:0.0744:0.0:0.9256	.	2071	P56715	RP1_HUMAN	S	2071	ENSP00000220676:L2071S	ENSP00000220676:L2071S	L	+	2	0	RP1	55705207	0.992000	0.36948	0.852000	0.33557	0.458000	0.32498	3.196000	0.51020	2.201000	0.70794	0.533000	0.62120	TTA		0.363	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		4	38	0	0	0	1	0	4	38				
FMR1	2332	broad.mit.edu	37	X	147024667	147024667	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A9O7-01A-21D-A41K-08	TCGA-V1-A9O7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d67abdf6-e826-413f-b727-c871fac872c0	e26ab21d-ac72-4d81-b54d-2b6673106efc	g.chrX:147024667G>A	ENST00000370475.4	+	14	1420	c.1292G>A	c.(1291-1293)cGt>cAt	p.R431H	FMR1_ENST00000218200.8_Missense_Mutation_p.R410H|FMR1_ENST00000440235.2_Missense_Mutation_p.R78H|FMR1_ENST00000439526.2_Missense_Mutation_p.R408H|FMR1_ENST00000370471.3_Intron|FMR1_ENST00000370477.1_Missense_Mutation_p.R410H|FMR1_ENST00000370470.1_Missense_Mutation_p.R431H|FMR1_ENST00000492846.1_3'UTR	NM_002024.5	NP_002015.1	Q06787	FMR1_HUMAN	fragile X mental retardation 1	431	Interaction with RANBP9.				central nervous system development (GO:0007417)|mRNA transport (GO:0051028)|negative regulation of translational initiation (GO:0045947)	cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|membrane (GO:0016020)|mRNA cap binding complex (GO:0005845)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|synapse (GO:0045202)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.R431H(1)		NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35	Acute lymphoblastic leukemia(192;6.56e-05)					GACCAGTTGCGTTTGGAGAGA	0.323									Fragile X syndrome																													ENST00000218200.8																			1	Substitution - Missense(1)	p.R431H(1)	large_intestine(1)	NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35						c.(1228-1230)cGt>cAt		fragile X mental retardation 1							125.0	115.0	118.0					X																	147024667		2203	4300	6503	SO:0001583	missense	2332	Fragile X syndrome	Familial Cancer Database	Martin-Bell syndrome, FRAXA syndrome	mRNA transport|negative regulation of translational initiation	cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction	mRNA binding|protein binding	g.chrX:147024667G>A	X69962	CCDS14682.1, CCDS55518.1, CCDS55519.1, CCDS76039.1	Xq27.3	2014-09-17			ENSG00000102081	ENSG00000102081			3775	protein-coding gene	gene with protein product		309550	"""premature ovarian failure 1"""	POF1, POF		1572655	Standard	NM_002024		Approved	FMRP, FRAXA, MGC87458	uc010nst.3	Q06787	OTTHUMG00000022606	ENST00000370475.4:c.1292G>A	X.37:g.147024667G>A	ENSP00000359506:p.Arg431His					FMR1_ENST00000370471.3_Intron|FMR1_ENST00000492846.1_3'UTR|FMR1_ENST00000439526.2_Missense_Mutation_p.R408H|FMR1_ENST00000370477.1_Missense_Mutation_p.R410H|FMR1_ENST00000370470.1_Missense_Mutation_p.R431H|FMR1_ENST00000370475.4_Missense_Mutation_p.R431H|FMR1_ENST00000440235.2_Missense_Mutation_p.R78H	p.R410H	NM_001185076.1|NM_001185082.1	NP_001172005.1|NP_001172011.1	Q06787	FMR1_HUMAN			13	1458	+	Acute lymphoblastic leukemia(192;6.56e-05)		431					A6NNH4|D3DWT0|D3DWT1|D3DWT2|G8JL90|Q16578|Q5PQZ6|Q99054	Missense_Mutation	SNP	ENST00000370475.4	37	c.1229G>A	CCDS14682.1	.	.	.	.	.	.	.	.	.	.	G	17.40	3.380984	0.61845	.	.	ENSG00000102081	ENST00000218200;ENST00000370477;ENST00000370475;ENST00000439526;ENST00000370470;ENST00000440235	T;T;T;T;T;T	0.41065	1.01;1.01;1.01;1.01;1.01;1.01	5.73	5.73	0.89815	.	0.103776	0.64402	D	0.000003	T	0.60843	0.2300	L	0.51422	1.61	0.58432	D	0.999999	D;B;D;P;P	0.89917	1.0;0.428;0.968;0.661;0.471	D;B;P;B;B	0.83275	0.996;0.394;0.749;0.222;0.156	T	0.60964	-0.7158	10	0.56958	D	0.05	-20.9072	17.7241	0.88360	0.0:0.0:1.0:0.0	.	78;431;326;410;408	F8W871;Q06787;Q59GC1;Q06787-8;G3V0J0	.;FMR1_HUMAN;.;.;.	H	410;410;431;408;431;78	ENSP00000218200:R410H;ENSP00000359508:R410H;ENSP00000359506:R431H;ENSP00000395923:R408H;ENSP00000359501:R431H;ENSP00000413764:R78H	ENSP00000218200:R410H	R	+	2	0	FMR1	146832359	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.058000	0.76676	2.404000	0.81709	0.600000	0.82982	CGT		0.323	FMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058655.1	NM_002024		11	43	0	0	0	1	0	11	43				
CHD7	55636	broad.mit.edu	37	8	61761625	61761625	+	Missense_Mutation	SNP	G	G	T			TCGA-V1-A9O7-01A-21D-A41K-08	TCGA-V1-A9O7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d67abdf6-e826-413f-b727-c871fac872c0	e26ab21d-ac72-4d81-b54d-2b6673106efc	g.chr8:61761625G>T	ENST00000423902.2	+	25	5795	c.5316G>T	c.(5314-5316)tgG>tgT	p.W1772C	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1772					adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CCGATGTGTGGATCCCTGAAC	0.388																																						ENST00000423902.2																			0				NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123						c.(5314-5316)tgG>tgT		chromodomain helicase DNA binding protein 7							198.0	188.0	191.0					8																	61761625		1872	4110	5982	SO:0001583	missense	55636				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	g.chr8:61761625G>T	AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.5316G>T	8.37:g.61761625G>T	ENSP00000392028:p.Trp1772Cys					CHD7_ENST00000524602.1_Intron	p.W1772C	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		25	5795	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	1772					D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	ENST00000423902.2	37	c.5316G>T	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	G	12.35	1.910292	0.33721	.	.	ENSG00000171316	ENST00000307121;ENST00000423902	D	0.94330	-3.4	5.87	5.87	0.94306	.	0.000000	0.64402	D	0.000001	D	0.93572	0.7948	M	0.72118	2.19	0.80722	D	1	B	0.23316	0.083	B	0.27076	0.076	D	0.90365	0.4376	10	0.62326	D	0.03	-8.9556	20.2227	0.98327	0.0:0.0:1.0:0.0	.	1772	Q9P2D1	CHD7_HUMAN	C	1772	ENSP00000392028:W1772C	ENSP00000307304:W1772C	W	+	3	0	CHD7	61924179	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	9.869000	0.99810	2.778000	0.95560	0.650000	0.86243	TGG		0.388	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		7	113	1	0	0.0477658	1	0.0487211	7	113				
IL3RA	3563	broad.mit.edu	37	X	1497571	1497571	+	Silent	SNP	C	C	A			TCGA-V1-A9O7-01A-21D-A41K-08	TCGA-V1-A9O7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d67abdf6-e826-413f-b727-c871fac872c0	e26ab21d-ac72-4d81-b54d-2b6673106efc	g.chrX:1497571C>A	ENST00000331035.4	+	10	1243	c.894C>A	c.(892-894)ggC>ggA	p.G298G	IL3RA_ENST00000381469.2_Silent_p.G220G	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha (low affinity)	298					cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-3 receptor activity (GO:0004912)			lung(1)|skin(2)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	AGGAGGAGGGCGCAAACACAC	0.672																																						ENST00000331035.4																			0				lung(1)|skin(2)	3						c.(892-894)ggC>ggA		interleukin 3 receptor, alpha (low affinity)	Sargramostim(DB00020)						112.0	89.0	97.0					X																	1497571		2200	4295	6495	SO:0001819	synonymous_variant	3563					integral to membrane|plasma membrane	interleukin-3 receptor activity	g.chrX:1497571C>A	M74782	CCDS14113.1, CCDS59158.1	Xp22.3 and Yp13.3	2008-07-21			ENSG00000185291	ENSG00000185291		"""Pseudoautosomal regions / PAR1"", ""Interleukins and interleukin receptors"", ""CD molecules"""	6012	protein-coding gene	gene with protein product		308385, 430000				1833064	Standard	NM_002183		Approved	CD123	uc004cps.3	P26951	OTTHUMG00000021059	ENST00000331035.4:c.894C>A	X.37:g.1497571C>A						IL3RA_ENST00000381469.2_Silent_p.G220G	p.G298G	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN			10	1243	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	298					A8K3F3|B9VI81|Q5HYQ7|Q5HYQ8|Q9UEH7	Silent	SNP	ENST00000331035.4	37	c.894C>A	CCDS14113.1																																																																																				0.672	IL3RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055600.3			3	22	1	0	0.115264	1	0.115264	3	22				
GTF3C4	9329	broad.mit.edu	37	9	135553528	135553528	+	Silent	SNP	C	C	T	rs372437145		TCGA-V1-A9O7-01A-21D-A41K-08	TCGA-V1-A9O7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d67abdf6-e826-413f-b727-c871fac872c0	e26ab21d-ac72-4d81-b54d-2b6673106efc	g.chr9:135553528C>T	ENST00000372146.4	+	2	1086	c.522C>T	c.(520-522)tgC>tgT	p.C174C	GTF3C4_ENST00000483873.2_Intron	NM_012204.2	NP_036336.2	Q9UKN8	TF3C4_HUMAN	general transcription factor IIIC, polypeptide 4, 90kDa	174					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|positive regulation of catalytic activity (GO:0043085)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)|enzyme activator activity (GO:0008047)|histone acetyltransferase activity (GO:0004402)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)		CCATGGGTTGCGATGCTAATG	0.532																																					Pancreas(142;417 1875 11086 31973 47667)	ENST00000372146.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	20						c.(520-522)tgC>tgT		general transcription factor IIIC, polypeptide 4, 90kDa		C		0,4406		0,0,2203	114.0	111.0	112.0		522	-2.7	1.0	9		112	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	GTF3C4	NM_012204.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		174/823	135553528	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9329				transcription initiation from RNA polymerase III promoter	transcription factor TFIIIC complex	DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding	g.chr9:135553528C>T	AF142328	CCDS6953.1	9q34.3	2011-07-01	2002-08-29		ENSG00000125484	ENSG00000125484		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""General transcription factors"""	4667	protein-coding gene	gene with protein product		604892	"""general transcription factor IIIC, polypeptide 4 (90kD)"""			10523658	Standard	NM_012204		Approved	TFIIIC90, KAT12	uc010mzv.3	Q9UKN8	OTTHUMG00000020842	ENST00000372146.4:c.522C>T	9.37:g.135553528C>T						GTF3C4_ENST00000483873.2_Intron	p.C174C	NM_012204.2	NP_036336.2	Q9UKN8	TF3C4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)	2	1086	+			174					Q5VZJ7	Silent	SNP	ENST00000372146.4	37	c.522C>T	CCDS6953.1																																																																																				0.532	GTF3C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054792.1			7	67	0	0	0	1	0	7	67				
LYN	4067	broad.mit.edu	37	8	56866508	56866508	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A9O7-01A-21D-A41K-08	TCGA-V1-A9O7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d67abdf6-e826-413f-b727-c871fac872c0	e26ab21d-ac72-4d81-b54d-2b6673106efc	g.chr8:56866508G>A	ENST00000519728.1	+	8	1051	c.755G>A	c.(754-756)aGg>aAg	p.R252K	LYN_ENST00000520220.2_Missense_Mutation_p.R231K	NM_002350.3	NP_002341.1	P07948	LYN_HUMAN	LYN proto-oncogene, Src family tyrosine kinase	252	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to extracellular stimulus (GO:0031668)|cellular response to heat (GO:0034605)|cellular response to retinoic acid (GO:0071300)|cytokine secretion (GO:0050663)|dendritic cell differentiation (GO:0097028)|erythrocyte differentiation (GO:0030218)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|Fc receptor mediated stimulatory signaling pathway (GO:0002431)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|histamine secretion by mast cell (GO:0002553)|immune response-regulating cell surface receptor signaling pathway (GO:0002768)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|leukocyte migration (GO:0050900)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of immune response (GO:0050777)|negative regulation of intracellular signal transduction (GO:1902532)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mast cell proliferation (GO:0070667)|negative regulation of myeloid leukocyte differentiation (GO:0002762)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|neuron projection development (GO:0031175)|oligodendrocyte development (GO:0014003)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060369)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of mast cell proliferation (GO:0070668)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oligodendrocyte progenitor proliferation (GO:0070447)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of stress-activated protein kinase signaling cascade (GO:0070304)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of B cell apoptotic process (GO:0002902)|regulation of B cell receptor signaling pathway (GO:0050855)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cytokine production (GO:0001817)|regulation of cytokine secretion (GO:0050707)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of erythrocyte differentiation (GO:0045646)|regulation of inflammatory response (GO:0050727)|regulation of mast cell activation (GO:0033003)|regulation of mast cell degranulation (GO:0043304)|regulation of monocyte chemotaxis (GO:0090025)|regulation of platelet aggregation (GO:0090330)|regulation of protein phosphorylation (GO:0001932)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|response to amino acid (GO:0043200)|response to axon injury (GO:0048678)|response to carbohydrate (GO:0009743)|response to drug (GO:0042493)|response to hormone (GO:0009725)|response to insulin (GO:0032868)|response to organic cyclic compound (GO:0014070)|response to sterol depletion (GO:0006991)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|T cell costimulation (GO:0031295)|tolerance induction to self antigen (GO:0002513)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integrin alpha2-beta1 complex (GO:0034666)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|mitochondrial crista (GO:0030061)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|glycosphingolipid binding (GO:0043208)|ion channel binding (GO:0044325)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)		Bosutinib(DB06616)|Ponatinib(DB08901)	TTGGTGAAAAGGCTTGGCGCT	0.527																																						ENST00000520220.2																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						c.(691-693)aGg>aAg		v-yes-1 Yamaguchi sarcoma viral related oncogene homolog							109.0	107.0	108.0					8																	56866508		2203	4300	6503	SO:0001583	missense	4067				erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation	cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity	g.chr8:56866508G>A	M16038	CCDS6162.1, CCDS47859.1	8q13	2014-06-25	2014-06-25		ENSG00000254087	ENSG00000254087		"""SH2 domain containing"""	6735	protein-coding gene	gene with protein product		165120	"""v-yes-1 Yamaguchi sarcoma viral related oncogene homolog"""			3561390	Standard	NM_002350		Approved	JTK8	uc003xsk.4	P07948	OTTHUMG00000044345	ENST00000519728.1:c.755G>A	8.37:g.56866508G>A	ENSP00000428924:p.Arg252Lys					LYN_ENST00000519728.1_Missense_Mutation_p.R252K	p.R231K	NM_001111097.2	NP_001104567.1	P07948	LYN_HUMAN	Epithelial(17;0.000834)|all cancers(17;0.00598)		8	966	+		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	252					A0AVQ5	Missense_Mutation	SNP	ENST00000519728.1	37	c.692G>A	CCDS6162.1	.	.	.	.	.	.	.	.	.	.	G	1.487	-0.555773	0.03967	.	.	ENSG00000254087	ENST00000519728;ENST00000520220	T;T	0.24151	1.87;1.87	5.08	-0.566	0.11767	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);SH2 motif (1);Protein kinase, catalytic domain (1);	0.354217	0.38217	N	0.001775	T	0.07863	0.0197	N	0.03967	-0.31	0.22601	N	0.998943	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.0	T	0.40213	-0.9575	10	0.02654	T	1	.	9.5292	0.39182	0.7897:0.0:0.2103:0.0	.	322;252	Q6NUK7;P07948	.;LYN_HUMAN	K	252;231	ENSP00000428924:R252K;ENSP00000428424:R231K	ENSP00000428924:R252K	R	+	2	0	LYN	57029062	1.000000	0.71417	0.527000	0.27925	0.324000	0.28378	1.346000	0.33964	0.061000	0.16311	0.650000	0.86243	AGG		0.527	LYN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378155.1	NM_002350		7	69	0	0	0	1	0	7	69				
RIMBP2	23504	broad.mit.edu	37	12	130926705	130926705	+	Nonsense_Mutation	SNP	G	G	A			TCGA-V1-A9O7-01A-21D-A41K-08	TCGA-V1-A9O7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d67abdf6-e826-413f-b727-c871fac872c0	e26ab21d-ac72-4d81-b54d-2b6673106efc	g.chr12:130926705G>A	ENST00000261655.4	-	8	1304	c.1141C>T	c.(1141-1143)Cag>Tag	p.Q381*	RIMBP2_ENST00000535703.1_Nonsense_Mutation_p.Q289*|RIMBP2_ENST00000536002.1_Nonsense_Mutation_p.Q289*	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	381	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		AGCGTGCACTGCAGCTCATCC	0.637																																						ENST00000261655.4																			0				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96						c.(1141-1143)Cag>Tag		RIMS binding protein 2							117.0	105.0	109.0					12																	130926705		2203	4300	6503	SO:0001587	stop_gained	23504					cell junction|synapse		g.chr12:130926705G>A	AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 133"""	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.1141C>T	12.37:g.130926705G>A	ENSP00000261655:p.Gln381*					RIMBP2_ENST00000536002.1_Nonsense_Mutation_p.Q289*|RIMBP2_ENST00000535703.1_Nonsense_Mutation_p.Q289*	p.Q381*	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)	8	1304	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)	381					Q96ID2	Nonsense_Mutation	SNP	ENST00000261655.4	37	c.1141C>T	CCDS31925.1	.	.	.	.	.	.	.	.	.	.	g	47	13.321262	0.99734	.	.	ENSG00000060709	ENST00000261655;ENST00000392375;ENST00000535703;ENST00000536002	.	.	.	4.23	4.23	0.50019	.	0.439306	0.25104	N	0.033118	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-9.8289	16.6129	0.84899	0.0:0.0:1.0:0.0	.	.	.	.	X	381;289;289;289	.	ENSP00000261655:Q381X	Q	-	1	0	RIMBP2	129492658	1.000000	0.71417	0.996000	0.52242	0.344000	0.29017	7.804000	0.85993	1.867000	0.54127	0.537000	0.68136	CAG		0.637	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347		9	37	0	0	0	1	0	9	37				
ALMS1	7840	broad.mit.edu	37	2	73680580	73680580	+	Missense_Mutation	SNP	C	C	T	rs147001219		TCGA-V1-A9O7-01A-21D-A41K-08	TCGA-V1-A9O7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d67abdf6-e826-413f-b727-c871fac872c0	e26ab21d-ac72-4d81-b54d-2b6673106efc	g.chr2:73680580C>T	ENST00000264448.6	+	8	7034	c.6923C>T	c.(6922-6924)aCg>aTg	p.T2308M	ALMS1_ENST00000377715.1_Missense_Mutation_p.T2308M|ALMS1_ENST00000409009.1_Missense_Mutation_p.T2266M	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2308					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CCCTCTTCCACGGGTGTATCT	0.438																																						ENST00000264448.6																			0				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						c.(6922-6924)aCg>aTg		Alstrom syndrome 1		C	MET/THR	0,3740		0,0,1870	82.0	79.0	80.0		6923	3.5	0.2	2	dbSNP_134	80	1,8185		0,1,4092	no	missense	ALMS1	NM_015120.4	81	0,1,5962	TT,TC,CC		0.0122,0.0,0.0084	probably-damaging	2308/4168	73680580	1,11925	1870	4093	5963	SO:0001583	missense	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73680580C>T	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.6923C>T	2.37:g.73680580C>T	ENSP00000264448:p.Thr2308Met					ALMS1_ENST00000377715.1_Missense_Mutation_p.T2308M|ALMS1_ENST00000409009.1_Missense_Mutation_p.T2266M	p.T2308M	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN			8	7034	+			2308					Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	c.6923C>T	CCDS42697.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	8.660	0.900410	0.17686	0.0	1.22E-4	ENSG00000116127	ENST00000409009;ENST00000264448;ENST00000377715	T;T;T	0.16196	3.24;3.24;2.36	5.36	3.46	0.39613	.	0.670158	0.13854	N	0.358137	T	0.22742	0.0549	L	0.34521	1.04	0.09310	N	1	D;D;D	0.71674	0.998;0.995;0.995	P;P;P	0.58130	0.833;0.799;0.799	T	0.05053	-1.0909	10	0.72032	D	0.01	.	7.2001	0.25877	0.1686:0.7397:0.0:0.0917	.	2308;2266;2308	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	M	2266;2308;2308	ENSP00000386627:T2266M;ENSP00000264448:T2308M;ENSP00000366944:T2308M	ENSP00000264448:T2308M	T	+	2	0	ALMS1	73534088	0.003000	0.15002	0.199000	0.23439	0.014000	0.08584	0.426000	0.21363	1.397000	0.46682	0.655000	0.94253	ACG		0.438	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		6	75	0	0	0	1	0	6	75				
XAB2	56949	broad.mit.edu	37	19	7693125	7693125	+	Missense_Mutation	SNP	G	G	C			TCGA-V1-A9O7-01A-21D-A41K-08	TCGA-V1-A9O7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d67abdf6-e826-413f-b727-c871fac872c0	e26ab21d-ac72-4d81-b54d-2b6673106efc	g.chr19:7693125G>C	ENST00000358368.4	-	2	148	c.111C>G	c.(109-111)tgC>tgG	p.C37W	PET100_ENST00000601406.1_5'Flank|PET100_ENST00000456958.3_5'Flank|CTD-3214H19.4_ENST00000595866.1_5'Flank|PET100_ENST00000594797.1_5'Flank|XAB2_ENST00000534844.1_Missense_Mutation_p.C34W	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	37					blastocyst development (GO:0001824)|DNA repair (GO:0006281)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						AGCGAAGCCAGCATTTGACAG	0.582								Direct reversal of damage;Nucleotide excision repair (NER)																														ENST00000358368.4																			0				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						c.(109-111)tgC>tgG	Direct reversal of damage;Nucleotide excision repair (NER)	XPA binding protein 2							109.0	94.0	99.0					19																	7693125		2203	4300	6503	SO:0001583	missense	56949				transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding	g.chr19:7693125G>C	AB026111	CCDS32892.1	19p13.3	2013-08-21				ENSG00000076924			14089	protein-coding gene	gene with protein product	"""SYF1 homolog, RNA splicing factor (S. cerevisiae)"", ""SYF1 pre-mRNA-splicing factor"""	610850				10944529	Standard	NM_020196		Approved	HCNP, HCRN, SYF1, NTC90	uc002mgx.3	Q9HCS7		ENST00000358368.4:c.111C>G	19.37:g.7693125G>C	ENSP00000351137:p.Cys37Trp					XAB2_ENST00000534844.1_Missense_Mutation_p.C34W	p.C37W	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN			2	148	-			37					Q8TET6|Q96HB0|Q96IW0|Q9NRG6|Q9ULP3	Missense_Mutation	SNP	ENST00000358368.4	37	c.111C>G	CCDS32892.1	.	.	.	.	.	.	.	.	.	.	G	15.94	2.979720	0.53827	.	.	ENSG00000076924	ENST00000358368;ENST00000534844	T;T	0.34275	1.37;1.37	4.91	2.34	0.29019	.	0.054642	0.85682	D	0.000000	T	0.44664	0.1304	M	0.71581	2.175	0.80722	D	1	D	0.65815	0.995	P	0.51193	0.662	T	0.45440	-0.9261	10	0.38643	T	0.18	-41.7195	11.6229	0.51128	0.1814:0.0:0.8186:0.0	.	37	Q9HCS7	SYF1_HUMAN	W	37;34	ENSP00000351137:C37W;ENSP00000438225:C34W	ENSP00000351137:C37W	C	-	3	2	XAB2	7599125	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.261000	0.43276	1.061000	0.40601	0.561000	0.74099	TGC		0.582	XAB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461021.1	NM_020196		5	41	0	0	0	1	0	5	41				
PMPCB	9512	broad.mit.edu	37	7	102944392	102944392	+	Silent	SNP	C	C	T			TCGA-V1-A9O7-01A-21D-A41K-08	TCGA-V1-A9O7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d67abdf6-e826-413f-b727-c871fac872c0	e26ab21d-ac72-4d81-b54d-2b6673106efc	g.chr7:102944392C>T	ENST00000249269.4	+	5	599	c.561C>T	c.(559-561)acC>acT	p.T187T	PMPCB_ENST00000420236.2_Silent_p.T82T|PMPCB_ENST00000428154.1_Silent_p.T187T	NM_004279.2	NP_004270.2	O75439	MPPB_HUMAN	peptidase (mitochondrial processing) beta	187					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	mitochondrial inner membrane (GO:0005743)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(9)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AAGTTGAAACCAATTTACAAG	0.378																																						ENST00000249269.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(9)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(559-561)acC>acT		peptidase (mitochondrial processing) beta							113.0	109.0	110.0					7																	102944392		2203	4300	6503	SO:0001819	synonymous_variant	9512				proteolysis	mitochondrial matrix	metalloendopeptidase activity|zinc ion binding	g.chr7:102944392C>T	AF054182	CCDS5730.1	7q22.1	2007-07-30			ENSG00000105819	ENSG00000105819			9119	protein-coding gene	gene with protein product		603131				9653160	Standard	XM_005250717		Approved	MPPB, MPPP52	uc003vbl.3	O75439	OTTHUMG00000157205	ENST00000249269.4:c.561C>T	7.37:g.102944392C>T						PMPCB_ENST00000420236.2_Silent_p.T82T|PMPCB_ENST00000428154.1_Silent_p.T187T	p.T187T	NM_004279.2	NP_004270.2	O75439	MPPB_HUMAN			5	599	+			187					O60416|Q96FV4	Silent	SNP	ENST00000249269.4	37	c.561C>T	CCDS5730.1																																																																																				0.378	PMPCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347913.1	NM_004279		6	43	0	0	0	1	0	6	43				
XRCC2	7516	broad.mit.edu	37	7	152373125	152373125	+	Splice_Site	SNP	C	C	T	rs560785131		TCGA-V1-A9O7-01A-21D-A41K-08	TCGA-V1-A9O7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d67abdf6-e826-413f-b727-c871fac872c0	e26ab21d-ac72-4d81-b54d-2b6673106efc	g.chr7:152373125C>T	ENST00000359321.1	-	1	125		c.e1+1			NM_005431.1	NP_005422.1	O43543	XRCC2_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 2						centrosome organization (GO:0051297)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|in utero embryonic development (GO:0001701)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of neurogenesis (GO:0050769)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|strand invasion (GO:0042148)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Rad51B-Rad51C-Rad51D-XRCC2 complex (GO:0033063)|replication fork (GO:0005657)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)			NS(1)|breast(1)|large_intestine(5)|liver(1)|lung(1)|prostate(2)	11		all_hematologic(28;0.0592)|Prostate(32;0.081)	OV - Ovarian serous cystadenocarcinoma(82;0.0423)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0429)		GCGGCTCTCACCTCGGTCCCA	0.672								Homologous recombination					C|||	1	0.000199681	0.0	0.0	5008	,	,		13473	0.0		0.001	False		,,,				2504	0.0					ENST00000359321.1																			0				NS(1)|breast(1)|large_intestine(5)|liver(1)|lung(1)|prostate(2)	11						c.e1+1	Homologous recombination	X-ray repair complementing defective repair in Chinese hamster cells 2							60.0	57.0	58.0					7																	152373125		2203	4300	6503	SO:0001630	splice_region_variant	7516				meiosis	nucleus	ATP binding|DNA binding|DNA-dependent ATPase activity	g.chr7:152373125C>T	Y08837	CCDS5933.1	7q36	2006-05-04			ENSG00000196584	ENSG00000196584			12829	protein-coding gene	gene with protein product	"""RAD51-like"""	600375				7607692, 10422536	Standard	NM_005431		Approved		uc003wld.3	O43543	OTTHUMG00000151470	ENST00000359321.1:c.39+1G>A	7.37:g.152373125C>T								NM_005431.1	NP_005422.1	O43543	XRCC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0423)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0429)	1	125	-		all_hematologic(28;0.0592)|Prostate(32;0.081)						B2R925	Splice_Site	SNP	ENST00000359321.1	37		CCDS5933.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.941776	0.73557	.	.	ENSG00000196584	ENST00000359321	.	.	.	3.84	3.84	0.44239	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.9483	0.58386	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	XRCC2	152004058	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.721000	0.47260	2.127000	0.65507	0.555000	0.69702	.		0.672	XRCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322783.1	NM_005431	Intron	6	35	0	0	0	1	0	6	35				
CYP2U1	113612	broad.mit.edu	37	4	108868606	108868606	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9O7-01A-21D-A41K-08	TCGA-V1-A9O7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d67abdf6-e826-413f-b727-c871fac872c0	e26ab21d-ac72-4d81-b54d-2b6673106efc	g.chr4:108868606C>T	ENST00000332884.6	+	3	1476	c.1201C>T	c.(1201-1203)Ccc>Tcc	p.P401S	CYP2U1_ENST00000508453.1_Missense_Mutation_p.P192S|RP11-286E11.1_ENST00000513071.1_RNA	NM_183075.2	NP_898898.1	Q7Z449	CP2U1_HUMAN	cytochrome P450, family 2, subfamily U, polypeptide 1	401					arachidonic acid metabolic process (GO:0019369)|cell death (GO:0008219)|omega-hydroxylase P450 pathway (GO:0097267)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|large_intestine(2)|lung(4)|skin(2)|urinary_tract(1)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000128)		GGCCCAGATGCCCTACACAGA	0.488																																						ENST00000332884.6																			0				breast(1)|large_intestine(2)|lung(4)|skin(2)|urinary_tract(1)	10						c.(1201-1203)Ccc>Tcc		cytochrome P450, family 2, subfamily U, polypeptide 1							105.0	95.0	98.0					4																	108868606		2203	4300	6503	SO:0001583	missense	113612				xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr4:108868606C>T	BC012027	CCDS34047.1	4q25	2012-11-23			ENSG00000155016	ENSG00000155016		"""Cytochrome P450s"""	20582	protein-coding gene	gene with protein product	"""spastic paraplegia 49"""	610670				14975754, 14660610	Standard	XM_005262717		Approved	SPG49	uc003hyp.3	Q7Z449	OTTHUMG00000161084	ENST00000332884.6:c.1201C>T	4.37:g.108868606C>T	ENSP00000333212:p.Pro401Ser					RP11-286E11.1_ENST00000513071.1_RNA|CYP2U1_ENST00000508453.1_Missense_Mutation_p.P192S	p.P401S	NM_183075.2	NP_898898.1	Q7Z449	CP2U1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000128)	3	1476	+		Hepatocellular(203;0.217)	401					B2RMV7|Q96EQ6	Missense_Mutation	SNP	ENST00000332884.6	37	c.1201C>T	CCDS34047.1	.	.	.	.	.	.	.	.	.	.	C	34	5.371092	0.95923	.	.	ENSG00000155016	ENST00000332884;ENST00000424249;ENST00000508453	T;T	0.74842	-0.88;-0.88	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	D	0.90331	0.6975	M	0.92268	3.29	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91333	0.5091	10	0.87932	D	0	.	20.6721	0.99693	0.0:1.0:0.0:0.0	.	401	Q7Z449	CP2U1_HUMAN	S	401;358;192	ENSP00000333212:P401S;ENSP00000423667:P192S	ENSP00000333212:P401S	P	+	1	0	CYP2U1	109088055	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.487000	0.81328	2.894000	0.99253	0.591000	0.81541	CCC		0.488	CYP2U1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363691.2	NM_183075		4	61	0	0	0	1	0	4	61				
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-V1-A9O7-01A-21D-A41K-08	TCGA-V1-A9O7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d67abdf6-e826-413f-b727-c871fac872c0	e26ab21d-ac72-4d81-b54d-2b6673106efc	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418																																						ENST00000430580.2																			0											c.e6+1		neuroblastoma breakpoint family, member 1																																				SO:0001630	splice_region_variant	55672					cytoplasm		g.chr1:16918653C>T	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.34+1G>A	1.37:g.16918653C>T								NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	6	853	-								Q8N4E8|Q9C0H0	Splice_Site	SNP	ENST00000430580.2	37																																																																																						0.418	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940	Intron	4	33	0	0	0	1	0	4	33				
BAI1	575	broad.mit.edu	37	8	143558561	143558561	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A9O7-01A-21D-A41K-08	TCGA-V1-A9O7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d67abdf6-e826-413f-b727-c871fac872c0	e26ab21d-ac72-4d81-b54d-2b6673106efc	g.chr8:143558561G>A	ENST00000517894.1	+	5	2038	c.1144G>A	c.(1144-1146)Gtg>Atg	p.V382M	BAI1_ENST00000323289.5_Missense_Mutation_p.V382M			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	382	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GCGCTTCTGCGTGTCCTCCTC	0.701																																						ENST00000517894.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57						c.(1144-1146)Gtg>Atg		brain-specific angiogenesis inhibitor 1							17.0	23.0	21.0					8																	143558561		2074	4204	6278	SO:0001583	missense	575				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding	g.chr8:143558561G>A	AB005297	CCDS64985.1	8q24.3	2014-08-08			ENSG00000181790	ENSG00000181790		"""-"", ""GPCR / Class B : Orphans"""	943	protein-coding gene	gene with protein product		602682				9533023	Standard	NM_001702		Approved		uc003ywm.3	O14514	OTTHUMG00000164732	ENST00000517894.1:c.1144G>A	8.37:g.143558561G>A	ENSP00000430945:p.Val382Met					BAI1_ENST00000323289.5_Missense_Mutation_p.V382M	p.V382M			O14514	BAI1_HUMAN			5	2038	+	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)		382			TSP type-1 2.			Missense_Mutation	SNP	ENST00000517894.1	37	c.1144G>A		.	.	.	.	.	.	.	.	.	.	G	21.0	4.084419	0.76642	.	.	ENSG00000181790	ENST00000517894;ENST00000323289	T;T	0.54866	0.55;0.55	4.32	4.32	0.51571	.	0.273875	0.28700	U	0.014432	T	0.53174	0.1780	L	0.31526	0.94	0.40246	D	0.978016	D	0.60160	0.987	P	0.52758	0.708	T	0.59968	-0.7354	10	0.56958	D	0.05	.	16.1259	0.81395	0.0:0.0:1.0:0.0	.	382	E9PBK0	.	M	382	ENSP00000430945:V382M;ENSP00000313046:V382M	ENSP00000313046:V382M	V	+	1	0	BAI1	143555563	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.283000	0.65621	2.082000	0.62665	0.462000	0.41574	GTG		0.701	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379963.3	NM_001702		5	29	0	0	0	1	0	5	29				
SIRT5	23408	broad.mit.edu	37	6	13612065	13612065	+	Missense_Mutation	SNP	C	C	A			TCGA-V1-A9O7-01A-21D-A41K-08	TCGA-V1-A9O7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d67abdf6-e826-413f-b727-c871fac872c0	e26ab21d-ac72-4d81-b54d-2b6673106efc	g.chr6:13612065C>A	ENST00000606117.1	+	10	1197	c.901C>A	c.(901-903)Ctt>Att	p.L301I	SIRT5_ENST00000397350.2_Missense_Mutation_p.L193I|RP1-223E5.4_ENST00000566170.1_RNA|SIRT5_ENST00000359782.3_Missense_Mutation_p.L283I	NM_012241.4	NP_036373.1			sirtuin 5											breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	11	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.176)			TCCTGAAGCCCTTGCCTGTCA	0.423																																						ENST00000606117.1																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	11						c.(901-903)Ctt>Att		sirtuin 5	Suramin(DB04786)						302.0	301.0	301.0					6																	13612065		2203	4300	6503	SO:0001583	missense	23408				chromatin silencing|protein ADP-ribosylation|protein deacetylation	mitochondrial intermembrane space|mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|zinc ion binding	g.chr6:13612065C>A	AF083110	CCDS4526.1, CCDS4527.1, CCDS54966.1, CCDS56398.1	6p23	2010-08-05	2010-06-25		ENSG00000124523	ENSG00000124523			14933	protein-coding gene	gene with protein product		604483	"""sirtuin (silent mating type information regulation 2, S.cerevisiae, homolog) 5"", ""sirtuin (silent mating type information regulation 2 homolog) 5 (S. cerevisiae)"""			10381378	Standard	NM_012241		Approved		uc003nay.3	Q9NXA8	OTTHUMG00000014278	ENST00000606117.1:c.901C>A	6.37:g.13612065C>A	ENSP00000476228:p.Leu301Ile					SIRT5_ENST00000397350.2_Missense_Mutation_p.L193I|SIRT5_ENST00000359782.3_Missense_Mutation_p.L283I	p.L301I	NM_012241.4	NP_036373.1	Q9NXA8	SIRT5_HUMAN	Epithelial(50;0.176)		10	1197	+	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	301			Deacetylase sirtuin-type.			Missense_Mutation	SNP	ENST00000606117.1	37	c.901C>A	CCDS4526.1	.	.	.	.	.	.	.	.	.	.	C	17.36	3.370525	0.61624	.	.	ENSG00000124523	ENST00000359782;ENST00000397350;ENST00000379250	T;T;T	0.30981	2.06;1.51;2.04	5.5	5.5	0.81552	.	0.067226	0.64402	D	0.000007	T	0.34106	0.0886	M	0.64567	1.98	0.48040	D	0.999576	B;B	0.25809	0.135;0.083	P;B	0.46110	0.504;0.307	T	0.18461	-1.0336	10	0.37606	T	0.19	-24.7139	13.4927	0.61405	0.1566:0.8434:0.0:0.0	.	283;301	F5H5Z9;Q9NXA8	.;SIRT5_HUMAN	I	283;193;301	ENSP00000352830:L283I;ENSP00000380509:L193I;ENSP00000368552:L301I	ENSP00000352830:L283I	L	+	1	0	SIRT5	13720044	1.000000	0.71417	0.996000	0.52242	0.802000	0.45316	3.102000	0.50291	2.729000	0.93468	0.650000	0.86243	CTT		0.423	SIRT5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039908.2			5	320	1	0	8.12818e-05	1	8.6362e-05	5	320				
NUP210L	91181	broad.mit.edu	37	1	154113942	154113942	+	Silent	SNP	G	G	A			TCGA-V1-A9O7-01A-21D-A41K-08	TCGA-V1-A9O7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d67abdf6-e826-413f-b727-c871fac872c0	e26ab21d-ac72-4d81-b54d-2b6673106efc	g.chr1:154113942G>A	ENST00000368559.3	-	4	602	c.531C>T	c.(529-531)aaC>aaT	p.N177N	NUP210L_ENST00000271854.3_Silent_p.N177N	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	177					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)		p.N177K(1)		NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TTGCTGACTCGTTGTCCTGGG	0.413																																						ENST00000368559.3																			1	Substitution - Missense(1)	p.N177K(1)	breast(1)	NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80						c.(529-531)aaC>aaT		nucleoporin 210kDa-like							175.0	158.0	164.0					1																	154113942		1963	4168	6131	SO:0001819	synonymous_variant	91181					integral to membrane		g.chr1:154113942G>A	AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.531C>T	1.37:g.154113942G>A						NUP210L_ENST00000271854.3_Silent_p.N177N	p.N177N	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)		4	602	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		177					E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Silent	SNP	ENST00000368559.3	37	c.531C>T	CCDS41399.1																																																																																				0.413	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308		7	101	0	0	0	1	0	7	101				
KRT16P6	353194	broad.mit.edu	37	17	16722536	16722536	+	RNA	SNP	T	T	C			TCGA-V1-A9O7-01A-21D-A41K-08	TCGA-V1-A9O7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d67abdf6-e826-413f-b727-c871fac872c0	e26ab21d-ac72-4d81-b54d-2b6673106efc	g.chr17:16722536T>C	ENST00000602730.1	+	0	6486				AC022596.6_ENST00000417510.1_RNA																							TCCCTGCCAGTTCTGGGTGCA	0.567																																						ENST00000417510.1																			0																																																			0							g.chr17:16722536T>C																													17.37:g.16722536T>C														0	1194	-									RNA	SNP	ENST00000602730.1	37																																																																																						0.567	RP11-219A15.4-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000468034.1			9	52	0	0	0	1	0	9	52				
PLCL1	5334	broad.mit.edu	37	2	198949686	198949686	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9O7-01A-21D-A41K-08	TCGA-V1-A9O7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d67abdf6-e826-413f-b727-c871fac872c0	e26ab21d-ac72-4d81-b54d-2b6673106efc	g.chr2:198949686C>T	ENST00000428675.1	+	2	1843	c.1445C>T	c.(1444-1446)gCt>gTt	p.A482V	PLCL1_ENST00000437704.2_Missense_Mutation_p.A384V	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	482	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	GCCTTTGTTGCTTCTGAATAC	0.393																																						ENST00000428675.1																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(1444-1446)gCt>gTt		phospholipase C-like 1	Quinacrine(DB01103)						72.0	70.0	71.0					2																	198949686		2203	4300	6503	SO:0001583	missense	5334				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:198949686C>T	D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"""phospholipase C related, but catalytically inactive protein"", ""protein phosphatase 1, regulatory subunit 127"""	600597	"""phospholipase C, epsilon"""	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.1445C>T	2.37:g.198949686C>T	ENSP00000402861:p.Ala482Val					PLCL1_ENST00000437704.2_Missense_Mutation_p.A384V	p.A482V	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN			2	1843	+			482			PI-PLC X-box.		Q3MJ90|Q53SD3|Q7Z3S3	Missense_Mutation	SNP	ENST00000428675.1	37	c.1445C>T	CCDS2326.2	.	.	.	.	.	.	.	.	.	.	C	15.91	2.971817	0.53614	.	.	ENSG00000115896	ENST00000428675;ENST00000437704	T;T	0.64260	-0.09;-0.09	5.94	5.94	0.96194	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	0.000000	0.64402	D	0.000003	T	0.62024	0.2394	L	0.51422	1.61	0.54753	D	0.999988	P;B	0.36837	0.571;0.417	B;B	0.38921	0.285;0.213	T	0.57189	-0.7854	9	.	.	.	.	20.3633	0.98874	0.0:1.0:0.0:0.0	.	482;408	Q15111;B4DYZ4	PLCL1_HUMAN;.	V	482;384	ENSP00000402861:A482V;ENSP00000414138:A384V	.	A	+	2	0	PLCL1	198657931	1.000000	0.71417	0.998000	0.56505	0.861000	0.49209	7.808000	0.86044	2.826000	0.97356	0.561000	0.74099	GCT		0.393	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1	NM_006226		6	47	0	0	0	1	0	6	47				
ZAN	7455	broad.mit.edu	37	7	100350361	100350361	+	RNA	SNP	T	T	C	rs200387712		TCGA-V1-A9O7-01A-21D-A41K-08	TCGA-V1-A9O7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d67abdf6-e826-413f-b727-c871fac872c0	e26ab21d-ac72-4d81-b54d-2b6673106efc	g.chr7:100350361T>C	ENST00000348028.3	+	0	2798				ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ACGGAAAAACTCACCATCCCC	0.502																																						ENST00000542585.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)							331.0	375.0	361.0					7																	100350361		1881	4106	5987			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100350361T>C	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100350361T>C						ZAN_ENST00000349350.6_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546213.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	2781	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37			.	.	.	.	.	.	.	.	.	.	c	5.922	0.354238	0.11182	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.61392	0.11;0.11;0.11	3.16	1.24	0.21308	.	1.200500	0.06499	N	0.736017	T	0.29028	0.0721	N	0.01874	-0.695	0.20403	N	0.999901	B;B	0.14805	0.011;0.01	B;B	0.16722	0.016;0.007	T	0.18777	-1.0326	10	0.30854	T	0.27	.	4.9933	0.14226	0.0:0.6075:0.1758:0.2167	.	878;878	F5H0T8;Q9Y493	.;ZAN_HUMAN	P	878	ENSP00000445943:L878P;ENSP00000445091:L878P;ENSP00000444427:L878P	ENSP00000423579:L878P	L	+	2	0	ZAN	100188297	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.610000	0.05629	0.035000	0.15519	-0.124000	0.14976	CTC		0.502	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		5	169	0	0	0	1	0	5	169				
TAAR2	9287	broad.mit.edu	37	6	132939003	132939003	+	Silent	SNP	T	T	C			TCGA-V1-A9O7-01A-21D-A41K-08	TCGA-V1-A9O7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d67abdf6-e826-413f-b727-c871fac872c0	e26ab21d-ac72-4d81-b54d-2b6673106efc	g.chr6:132939003T>C	ENST00000367931.1	-	2	341	c.342A>G	c.(340-342)acA>acG	p.T114T	TAAR2_ENST00000275191.2_Silent_p.T69T|TAAR2_ENST00000537809.1_Silent_p.T69T			Q9P1P5	TAAR2_HUMAN	trace amine associated receptor 2	114					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)	23	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151)		TCTTGCAAAATGTAAGCCCAA	0.393																																						ENST00000275191.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)	23						c.(205-207)acA>acG		trace amine associated receptor 2							90.0	85.0	86.0					6																	132939003		2203	4300	6503	SO:0001819	synonymous_variant	9287					plasma membrane	G-protein coupled receptor activity	g.chr6:132939003T>C	AF112460	CCDS34541.1, CCDS5157.1	6q24	2012-08-08	2005-02-23	2005-02-24	ENSG00000146378	ENSG00000146378		"""GPCR / Class A : Trace amine associated receptors"""	4514	protein-coding gene	gene with protein product		604849	"""G protein-coupled receptor 58"""	GPR58		10684976, 15718104	Standard	NM_014626		Approved		uc003qdl.1	Q9P1P5	OTTHUMG00000015585	ENST00000367931.1:c.342A>G	6.37:g.132939003T>C						TAAR2_ENST00000537809.1_Silent_p.T69T|TAAR2_ENST00000367931.1_Silent_p.T114T	p.T69T	NM_014626.3	NP_055441.2	Q9P1P5	TAAR2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151)	1	314	-	Breast(56;0.135)		114					Q5QD02|Q6NWS1|Q6NWS2|Q6NWS3	Silent	SNP	ENST00000367931.1	37	c.207A>G	CCDS34541.1																																																																																				0.393	TAAR2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390735.1	NM_014626		13	64	0	0	0	1	0	13	64				
PEX3	8504	broad.mit.edu	37	6	143784112	143784112	+	Missense_Mutation	SNP	C	C	G			TCGA-V1-A9O7-01A-21D-A41K-08	TCGA-V1-A9O7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d67abdf6-e826-413f-b727-c871fac872c0	e26ab21d-ac72-4d81-b54d-2b6673106efc	g.chr6:143784112C>G	ENST00000367591.4	+	3	328	c.265C>G	c.(265-267)Ctc>Gtc	p.L89V		NM_003630.2	NP_003621.1	P56589	PEX3_HUMAN	peroxisomal biogenesis factor 3	89					peroxisome membrane biogenesis (GO:0016557)|peroxisome organization (GO:0007031)|protein import into peroxisome membrane (GO:0045046)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of peroxisomal membrane (GO:0005779)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)|protein-lipid complex (GO:0032994)	lipid binding (GO:0008289)|protein dimerization activity (GO:0046983)			endometrium(1)|large_intestine(9)|lung(4)|ovary(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(155;5.73e-06)|GBM - Glioblastoma multiforme(68;0.0117)		TTCCGAGAGCCTCACAGCTCT	0.358																																						ENST00000367591.4																			0				endometrium(1)|large_intestine(9)|lung(4)|ovary(2)|skin(2)	18						c.(265-267)Ctc>Gtc		peroxisomal biogenesis factor 3							90.0	88.0	88.0					6																	143784112		2203	4300	6503	SO:0001583	missense	8504				protein import into peroxisome membrane|transmembrane transport	integral to peroxisomal membrane	protein binding	g.chr6:143784112C>G	AJ001625	CCDS5199.1	6q24.2	2008-05-15			ENSG00000034693	ENSG00000034693			8858	protein-coding gene	gene with protein product		603164				9657383	Standard	NM_003630		Approved		uc003qjl.3	P56589	OTTHUMG00000015730	ENST00000367591.4:c.265C>G	6.37:g.143784112C>G	ENSP00000356563:p.Leu89Val						p.L89V	NM_003630.2	NP_003621.1	P56589	PEX3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.73e-06)|GBM - Glioblastoma multiforme(68;0.0117)	3	328	+			89					Q6FGP5	Missense_Mutation	SNP	ENST00000367591.4	37	c.265C>G	CCDS5199.1	.	.	.	.	.	.	.	.	.	.	C	16.77	3.215712	0.58452	.	.	ENSG00000034693	ENST00000344281;ENST00000367592;ENST00000367591	T;T	0.48836	0.8;0.88	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.48554	0.1506	L	0.52823	1.66	0.80722	D	1	B;D	0.63046	0.303;0.992	B;D	0.63192	0.423;0.912	T	0.35176	-0.9799	10	0.22109	T	0.4	-9.6061	13.0137	0.58745	0.0:0.9266:0.0:0.0734	.	89;89	B4DV31;P56589	.;PEX3_HUMAN	V	45;45;89	ENSP00000356564:L45V;ENSP00000356563:L89V	ENSP00000344195:L45V	L	+	1	0	PEX3	143825805	1.000000	0.71417	0.998000	0.56505	0.965000	0.64279	5.782000	0.68973	2.656000	0.90262	0.655000	0.94253	CTC		0.358	PEX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042525.1			4	39	0	0	0	1	0	4	39				
LPA	4018	broad.mit.edu	37	6	161016418	161016418	+	Missense_Mutation	SNP	G	G	T			TCGA-V1-A9O7-01A-21D-A41K-08	TCGA-V1-A9O7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d67abdf6-e826-413f-b727-c871fac872c0	e26ab21d-ac72-4d81-b54d-2b6673106efc	g.chr6:161016418G>T	ENST00000316300.5	-	21	3481	c.3437C>A	c.(3436-3438)cCa>cAa	p.P1146Q	LPA_ENST00000447678.1_Missense_Mutation_p.P1146Q			P08519	APOA_HUMAN	lipoprotein, Lp(a)	3654	Kringle 10. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GCTTGGATCTGGGACCACCGT	0.498																																						ENST00000447678.1																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107						c.(3436-3438)cCa>cAa		lipoprotein, Lp(a)	Aminocaproic Acid(DB00513)						162.0	160.0	160.0					6																	161016418		2036	4219	6255	SO:0001583	missense	4018				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	g.chr6:161016418G>T	X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.3437C>A	6.37:g.161016418G>T	ENSP00000321334:p.Pro1146Gln					LPA_ENST00000316300.5_Missense_Mutation_p.P1146Q	p.P1146Q	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	22	3557	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)	3654			Kringle 10.		Q5VTD7|Q9UD88	Missense_Mutation	SNP	ENST00000316300.5	37	c.3437C>A	CCDS43523.1	.	.	.	.	.	.	.	.	.	.	g	8.911	0.958655	0.18507	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	D;D	0.87412	-2.25;-2.25	2.14	-0.414	0.12359	Kringle-like fold (1);	.	.	.	.	T	0.78349	0.4269	L	0.33710	1.025	0.09310	N	1	D	0.67145	0.996	D	0.72982	0.979	T	0.66344	-0.5947	9	0.36615	T	0.2	.	2.4078	0.04417	0.0:0.2038:0.3209:0.4753	.	3654	P08519	APOA_HUMAN	Q	1146	ENSP00000321334:P1146Q;ENSP00000395608:P1146Q	ENSP00000321334:P1146Q	P	-	2	0	LPA	160936408	0.001000	0.12720	0.010000	0.14722	0.484000	0.33280	0.144000	0.16135	0.069000	0.16605	0.205000	0.17691	CCA		0.498	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577		21	111	1	0	0.00278032	1	0.0028938	21	111				
PDE4DIP	9659	broad.mit.edu	37	1	144886148	144886148	+	Missense_Mutation	SNP	T	T	C			TCGA-V1-A9O7-01A-21D-A41K-08	TCGA-V1-A9O7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d67abdf6-e826-413f-b727-c871fac872c0	e26ab21d-ac72-4d81-b54d-2b6673106efc	g.chr1:144886148T>C	ENST00000369354.3	-	23	3275	c.3086A>G	c.(3085-3087)gAg>gGg	p.E1029G	PDE4DIP_ENST00000313382.9_Missense_Mutation_p.E1095G|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.E1166G|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.E1166G|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.E1029G|PDE4DIP_ENST00000524974.1_5'UTR			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1029					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		AGCCTTTAGCTCCTTCAGTTC	0.522			T	PDGFRB	MPD																																	ENST00000369359.4				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176						c.(3496-3498)gAg>gGg		phosphodiesterase 4D interacting protein							206.0	180.0	189.0					1																	144886148		2203	4296	6499	SO:0001583	missense	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144886148T>C	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.3086A>G	1.37:g.144886148T>C	ENSP00000358360:p.Glu1029Gly					PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.E1166G|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.E1029G|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.E1029G|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.E1095G	p.E1166G			Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	26	3535	-			1029					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	c.3497A>G	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	T	17.47	3.397730	0.62177	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359	T;T;T;T;T	0.02067	4.47;4.61;4.61;4.62;4.62	5.56	5.56	0.83823	.	.	.	.	.	T	0.00967	0.0032	N	0.14661	0.345	0.80722	D	1	P;P	0.46395	0.873;0.877	P;B	0.46659	0.523;0.411	T	0.71774	-0.4491	9	0.27082	T	0.32	.	9.0503	0.36372	0.164:0.0:0.0:0.836	.	1095;1029	Q5VU43-3;Q5VU43	.;MYOME_HUMAN	G	1095;1029;1029;1166;1166	ENSP00000327209:E1095G;ENSP00000358360:E1029G;ENSP00000358363:E1029G;ENSP00000435654:E1166G;ENSP00000358366:E1166G	ENSP00000327209:E1095G	E	-	2	0	PDE4DIP	143597505	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.969000	0.63735	2.128000	0.65567	0.459000	0.35465	GAG		0.522	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		5	219	0	0	0	1	0	5	219				
UBTF	7343	broad.mit.edu	37	17	42293033	42293033	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9O7-01A-21D-A41K-08	TCGA-V1-A9O7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d67abdf6-e826-413f-b727-c871fac872c0	e26ab21d-ac72-4d81-b54d-2b6673106efc	g.chr17:42293033C>T	ENST00000302904.4	-	5	955	c.463G>A	c.(463-465)Gag>Aag	p.E155K	UBTF_ENST00000393606.3_Missense_Mutation_p.E155K|UBTF_ENST00000527034.1_Missense_Mutation_p.E155K|UBTF_ENST00000537550.1_5'UTR|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000533177.1_Missense_Mutation_p.E155K|UBTF_ENST00000526094.1_Missense_Mutation_p.E155K|UBTF_ENST00000436088.1_Missense_Mutation_p.E155K|UBTF_ENST00000529383.1_Missense_Mutation_p.E155K|UBTF_ENST00000343638.5_Missense_Mutation_p.E155K			P17480	UBF1_HUMAN	upstream binding transcription factor, RNA polymerase I	155					chromatin silencing at rDNA (GO:0000183)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		TTCTTCTTCTCCGGAAGCTCC	0.547																																						ENST00000302904.4																			0				breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(463-465)Gag>Aag		upstream binding transcription factor, RNA polymerase I							101.0	105.0	104.0					17																	42293033		2203	4300	6503	SO:0001583	missense	7343				positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm	DNA binding|protein binding	g.chr17:42293033C>T	BC042297	CCDS11480.1, CCDS42346.1	17q21.31	2014-03-25			ENSG00000108312	ENSG00000108312			12511	protein-coding gene	gene with protein product		600673				9126496	Standard	NM_001076683		Approved	UBF, NOR-90, UBF1, UBF2	uc010czs.3	P17480	OTTHUMG00000167585	ENST00000302904.4:c.463G>A	17.37:g.42293033C>T	ENSP00000302640:p.Glu155Lys					UBTF_ENST00000529383.1_Missense_Mutation_p.E155K|UBTF_ENST00000526094.1_Missense_Mutation_p.E155K|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000527034.1_Missense_Mutation_p.E155K|UBTF_ENST00000436088.1_Missense_Mutation_p.E155K|UBTF_ENST00000343638.5_Missense_Mutation_p.E155K|UBTF_ENST00000393606.3_Missense_Mutation_p.E155K|UBTF_ENST00000537550.1_5'UTR|UBTF_ENST00000533177.1_Missense_Mutation_p.E155K	p.E155K			P17480	UBF1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.114)	5	955	-		Breast(137;0.00765)|Prostate(33;0.0181)	155					A8K6R8	Missense_Mutation	SNP	ENST00000302904.4	37	c.463G>A	CCDS11480.1	.	.	.	.	.	.	.	.	.	.	c	33	5.203150	0.95033	.	.	ENSG00000108312	ENST00000343638;ENST00000302904;ENST00000527034;ENST00000533177;ENST00000436088;ENST00000393606;ENST00000526094;ENST00000529383;ENST00000530828	D;D;D;D;D;D;D;D;D	0.98221	-4.8;-4.8;-4.8;-4.8;-4.8;-4.8;-4.8;-4.8;-4.8	4.27	4.27	0.50696	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.120227	0.56097	D	0.000039	D	0.98507	0.9502	M	0.84511	2.7	0.58432	D	0.999994	P;P;P	0.46578	0.88;0.551;0.775	P;B;P	0.52454	0.699;0.295;0.689	D	0.99167	1.0863	10	0.49607	T	0.09	-28.6178	16.6665	0.85254	0.0:1.0:0.0:0.0	.	155;155;155	E9PKP7;P17480-2;P17480	.;.;UBF1_HUMAN	K	155;155;155;155;155;155;155;155;127	ENSP00000345297:E155K;ENSP00000302640:E155K;ENSP00000431539:E155K;ENSP00000437180:E155K;ENSP00000390669:E155K;ENSP00000377231:E155K;ENSP00000432925:E155K;ENSP00000435708:E155K;ENSP00000433046:E127K	ENSP00000302640:E155K	E	-	1	0	UBTF	39648559	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	7.713000	0.84693	2.082000	0.62665	0.467000	0.42956	GAG		0.547	UBTF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395205.1	NM_014233		21	131	0	0	0	1	0	21	131				
USP31	57478	broad.mit.edu	37	16	23080594	23080594	+	Silent	SNP	G	G	A			TCGA-V1-A9O7-01A-21D-A41K-08	TCGA-V1-A9O7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d67abdf6-e826-413f-b727-c871fac872c0	e26ab21d-ac72-4d81-b54d-2b6673106efc	g.chr16:23080594G>A	ENST00000219689.7	-	16	2831	c.2832C>T	c.(2830-2832)gtC>gtT	p.V944V	USP31_ENST00000567975.1_Silent_p.V237V	NM_020718.3	NP_065769.3	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 31	0	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		CGCCTTCCATGACAGCCAGAG	0.567																																						ENST00000219689.7																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57						c.(2830-2832)gtC>gtT		ubiquitin specific peptidase 31							82.0	84.0	83.0					16																	23080594		2197	4300	6497	SO:0001819	synonymous_variant	57478				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr16:23080594G>A	AB033029	CCDS10607.1	16p12.3	2008-02-05	2005-08-08		ENSG00000103404	ENSG00000103404		"""Ubiquitin-specific peptidases"""	20060	protein-coding gene	gene with protein product			"""ubiquitin specific protease 31"""			12838346	Standard	NM_020718		Approved	KIAA1203	uc002dll.3	Q70CQ4	OTTHUMG00000094793	ENST00000219689.7:c.2832C>T	16.37:g.23080594G>A						USP31_ENST00000567975.1_Silent_p.V237V	p.V944V	NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN		GBM - Glioblastoma multiforme(48;0.0187)	16	2831	-			944			Ser-rich.		B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Silent	SNP	ENST00000219689.7	37	c.2832C>T	CCDS10607.1																																																																																				0.567	USP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211607.1	NM_020718		8	79	0	0	0	1	0	8	79				
HOXB1	3211	broad.mit.edu	37	17	46608026	46608026	+	Missense_Mutation	SNP	G	G	T			TCGA-V1-A9O7-01A-21D-A41K-08	TCGA-V1-A9O7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d67abdf6-e826-413f-b727-c871fac872c0	e26ab21d-ac72-4d81-b54d-2b6673106efc	g.chr17:46608026G>T	ENST00000239174.6	-	1	333	c.241C>A	c.(241-243)Ccc>Acc	p.P81T	HOXB1_ENST00000577092.1_Missense_Mutation_p.P81T	NM_002144.3	NP_002135.2	P14653	HXB1_HUMAN	homeobox B1	81					anatomical structure formation involved in morphogenesis (GO:0048646)|anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|facial nerve structural organization (GO:0021612)|facial nucleus development (GO:0021754)|multicellular organismal development (GO:0007275)|pattern specification process (GO:0007389)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|rhombomere 4 development (GO:0021570)|rhombomere 5 development (GO:0021571)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TACCCCGAGGGCGCGGAGCTG	0.657																																						ENST00000239174.6																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(241-243)Ccc>Acc		homeobox B1							39.0	45.0	43.0					17																	46608026		2203	4300	6503	SO:0001583	missense	3211					nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity	g.chr17:46608026G>T		CCDS32675.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120094	ENSG00000120094		"""Homeoboxes / ANTP class : HOXL subclass"""	5111	protein-coding gene	gene with protein product		142968	"""homeo box B1"""	HOX2, HOX2I		1973146, 1358459	Standard	NM_002144		Approved		uc002ink.1	P14653	OTTHUMG00000159929	ENST00000239174.6:c.241C>A	17.37:g.46608026G>T	ENSP00000355140:p.Pro81Thr					HOXB1_ENST00000577092.1_Missense_Mutation_p.P81T	p.P81T	NM_002144.3	NP_002135.2	P14653	HXB1_HUMAN			1	333	-			81					Q4VB03	Missense_Mutation	SNP	ENST00000239174.6	37	c.241C>A	CCDS32675.1	.	.	.	.	.	.	.	.	.	.	G	0.013	-1.624937	0.00820	.	.	ENSG00000120094	ENST00000239174	D	0.89875	-2.58	4.57	1.39	0.22231	.	0.367561	0.19987	N	0.101645	T	0.73976	0.3656	N	0.12887	0.27	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.54556	-0.8276	10	0.02654	T	1	.	11.6933	0.51529	0.0:0.1177:0.7314:0.1509	.	81	P14653	HXB1_HUMAN	T	81	ENSP00000355140:P81T	ENSP00000355140:P81T	P	-	1	0	HOXB1	43963025	0.000000	0.05858	0.562000	0.28370	0.935000	0.57460	-0.053000	0.11846	0.125000	0.18397	0.551000	0.68910	CCC		0.657	HOXB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358383.3			14	95	1	0	2.32078e-09	1	2.57304e-09	14	95				
HEXDC	284004	broad.mit.edu	37	17	80400435	80400435	+	3'UTR	SNP	A	A	T			TCGA-V1-A9O7-01A-21D-A41K-08	TCGA-V1-A9O7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d67abdf6-e826-413f-b727-c871fac872c0	e26ab21d-ac72-4d81-b54d-2b6673106efc	g.chr17:80400435A>T	ENST00000327949.9	+	0	1647				HEXDC_ENST00000337014.6_Silent_p.T575T|HEXDC_ENST00000577944.1_3'UTR			Q8WVB3	HEXDC_HUMAN	hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing						carbohydrate metabolic process (GO:0005975)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	beta-N-acetylhexosaminidase activity (GO:0004563)			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			TAGAAAACACAGAAGGAAGCA	0.577																																						ENST00000337014.6																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16						c.(1723-1725)acA>acT		hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing							76.0	86.0	83.0					17																	80400435		1981	4168	6149	SO:0001624	3_prime_UTR_variant	284004				carbohydrate metabolic process	cytoplasm|nucleus	beta-N-acetylhexosaminidase activity|cation binding	g.chr17:80400435A>T	AK074405	CCDS42402.1	17q25.3	2011-12-19			ENSG00000169660	ENSG00000169660			26307	protein-coding gene	gene with protein product						12477932	Standard	NM_173620		Approved	FLJ23825	uc002kev.4	Q8WVB3		ENST00000327949.9:c.*175A>T	17.37:g.80400435A>T						HEXDC_ENST00000577944.1_3'UTR|HEXDC_ENST00000327949.9_3'UTR	p.T575T	NM_173620.2	NP_775891.2	Q8WVB3	HEXDC_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)		12	2199	+	Breast(20;0.00106)|all_neural(118;0.0804)		0					B7UUP6|Q8IYN4|Q8TE81	Silent	SNP	ENST00000327949.9	37	c.1725A>T																																																																																					0.577	HEXDC-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000443513.1	NM_173620		11	98	0	0	0	1	0	11	98				
HERC2	8924	broad.mit.edu	37	15	28463646	28463646	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A9O7-01A-21D-A41K-08	TCGA-V1-A9O7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d67abdf6-e826-413f-b727-c871fac872c0	e26ab21d-ac72-4d81-b54d-2b6673106efc	g.chr15:28463646G>A	ENST00000261609.7	-	38	6125	c.6017C>T	c.(6016-6018)aCg>aTg	p.T2006M		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TGTCTTGTCCGTCGTTCCGCT	0.552																																						ENST00000261609.7																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204						c.(6016-6018)aCg>aTg		HECT and RLD domain containing E3 ubiquitin protein ligase 2							80.0	95.0	89.0					15																	28463646		1386	2353	3739	SO:0001583	missense	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28463646G>A	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.6017C>T	15.37:g.28463646G>A	ENSP00000261609:p.Thr2006Met						p.T2006M	NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	38	6125	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	2006						Missense_Mutation	SNP	ENST00000261609.7	37	c.6017C>T	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	G	8.063	0.768550	0.15983	.	.	ENSG00000128731	ENST00000261609	T	0.37915	1.17	4.4	2.52	0.30459	.	0.384744	0.28067	N	0.016729	T	0.12305	0.0299	N	0.02011	-0.69	0.27403	N	0.954802	B	0.10296	0.003	B	0.08055	0.003	T	0.09552	-1.0669	10	0.46703	T	0.11	.	4.458	0.11652	0.4389:0.0:0.5611:0.0	.	2006	O95714	HERC2_HUMAN	M	2006	ENSP00000261609:T2006M	ENSP00000261609:T2006M	T	-	2	0	HERC2	26137241	0.950000	0.32346	0.508000	0.27688	0.406000	0.30931	2.250000	0.43178	1.213000	0.43380	0.650000	0.86243	ACG		0.552	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		4	81	0	0	0	1	0	4	81				
RP11-383M4.6	0	broad.mit.edu	37	9	84562813	84562813	+	lincRNA	SNP	G	G	A	rs377006614		TCGA-V1-A9O7-01A-21D-A41K-08	TCGA-V1-A9O7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d67abdf6-e826-413f-b727-c871fac872c0	e26ab21d-ac72-4d81-b54d-2b6673106efc	g.chr9:84562813G>A	ENST00000585776.1	-	0	942				SPATA31D3_ENST00000334208.4_RNA																							GAGGACCACCGCGTTGATACC	0.418													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19402	0.0		0.0	False		,,,				2504	0.0					ENST00000585776.1																			0															G	HIS/ARG	1,1383		0,1,691	167.0	122.0	136.0		2645	-2.7	0.0	9		136	0,3182		0,0,1591	no	missense	FAM75D3	NM_207416.2	29	0,1,2282	AA,AG,GG		0.0,0.0723,0.0219	benign	882/918	84562813	1,4565	692	1591	2283			0							g.chr9:84562813G>A																													9.37:g.84562813G>A						SPATA31D3_ENST00000334208.4_RNA								0	942	-									RNA	SNP	ENST00000585776.1	37																																																																																						0.418	RP11-383M4.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000453562.1			8	13	0	0	0	1	0	8	13				
FNBP1	23048	broad.mit.edu	37	9	132687348	132687348	+	Missense_Mutation	SNP	C	C	T	rs191141789		TCGA-V1-A9O7-01A-21D-A41K-08	TCGA-V1-A9O7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d67abdf6-e826-413f-b727-c871fac872c0	e26ab21d-ac72-4d81-b54d-2b6673106efc	g.chr9:132687348C>T	ENST00000446176.2	-	9	1064	c.878G>A	c.(877-879)cGc>cAc	p.R293H	FNBP1_ENST00000478129.1_5'UTR|FNBP1_ENST00000355681.3_Missense_Mutation_p.R293H|FNBP1_ENST00000420781.1_Missense_Mutation_p.R293H	NM_015033.2	NP_055848.1	Q96RU3	FNBP1_HUMAN	formin binding protein 1	293	Interaction with microtubules. {ECO:0000250}.|Required for self-association and induction of membrane tubulation.				endocytosis (GO:0006897)	coated pit (GO:0005905)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)						Ovarian(14;0.000536)		GBM - Glioblastoma multiforme(294;0.0378)		TGACACAGTGCGCTTCATTGG	0.418			T	MLL	AML								C|||	1	0.000199681	0.0008	0.0	5008	,	,		18208	0.0		0.0	False		,,,				2504	0.0					ENST00000420781.1				Dom	yes		9	9q23	23048	T	formin binding protein 1 (FBP17)			L	MLL		AML		0											c.(877-879)cGc>cAc		formin binding protein 1							147.0	137.0	140.0					9																	132687348		1881	4122	6003	SO:0001583	missense	23048				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|lysosome|plasma membrane	identical protein binding|lipid binding	g.chr9:132687348C>T	AB011126	CCDS48040.1	9q34	2008-02-05			ENSG00000187239	ENSG00000187239			17069	protein-coding gene	gene with protein product		606191				9628581, 11438682	Standard	XM_005251815		Approved	FBP17, KIAA0554	uc004byw.1	Q96RU3	OTTHUMG00000020800	ENST00000446176.2:c.878G>A	9.37:g.132687348C>T	ENSP00000413625:p.Arg293His					FNBP1_ENST00000355681.3_Missense_Mutation_p.R293H|FNBP1_ENST00000478129.1_5'UTR|FNBP1_ENST00000446176.2_Missense_Mutation_p.R293H	p.R293H			Q96RU3	FNBP1_HUMAN		GBM - Glioblastoma multiforme(294;0.0378)	9	1096	-		Ovarian(14;0.000536)	293			Interaction with microtubules (By similarity).|Required for self-association and induction of membrane tubulation.		O60301|Q3MIN8|Q5TC87|Q5TC88|Q6P658|Q7LGG2|Q9H8H8|Q9NWD1	Missense_Mutation	SNP	ENST00000446176.2	37	c.878G>A	CCDS48040.1	1|1	4.578754578754579E-4|4.578754578754579E-4	1|1	0.0020325203252032522|0.0020325203252032522	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	C|C	27.2|27.2	4.806903|4.806903	0.90623|0.90623	.|.	.|.	ENSG00000187239|ENSG00000187239	ENST00000449089|ENST00000372416;ENST00000446176;ENST00000420781;ENST00000372415;ENST00000355681	.|T;T;T	.|0.50001	.|0.78;0.76;0.8	5.34|5.34	5.34|5.34	0.76211|0.76211	.|.	.|0.101754	.|0.64402	.|D	.|0.000004	T|T	0.70090|0.70090	0.3184|0.3184	M|M	0.76574|0.76574	2.34|2.34	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D;D	.|0.89917	.|0.999;1.0;1.0;1.0;1.0;0.999;1.0	.|D;D;D;D;D;D;D	.|0.91635	.|0.917;0.999;0.919;0.982;0.999;0.949;0.987	T|T	0.72246|0.72246	-0.4349|-0.4349	5|10	.|0.62326	.|D	.|0.03	-25.4201|-25.4201	18.4048|18.4048	0.90532|0.90532	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|293;293;293;293;254;293;293	.|B7ZL12;B7ZL13;B7ZL14;Q96RU3-3;Q5QP69;Q96RU3-2;Q96RU3	.|.;.;.;.;.;.;FNBP1_HUMAN	T|H	255|293	.|ENSP00000413625:R293H;ENSP00000407548:R293H;ENSP00000347907:R293H	.|ENSP00000347907:R293H	A|R	-|-	1|2	0|0	FNBP1|FNBP1	131727169|131727169	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.964000|0.964000	0.63967|0.63967	7.336000|7.336000	0.79245|0.79245	2.655000|2.655000	0.90218|0.90218	0.462000|0.462000	0.41574|0.41574	GCA|CGC		0.418	FNBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054630.2			4	58	0	0	0	1	0	4	58				
EHMT2	10919	broad.mit.edu	37	6	31852259	31852259	+	Missense_Mutation	SNP	C	C	T	rs143327875		TCGA-V1-A9O7-01A-21D-A41K-08	TCGA-V1-A9O7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d67abdf6-e826-413f-b727-c871fac872c0	e26ab21d-ac72-4d81-b54d-2b6673106efc	g.chr6:31852259C>T	ENST00000375537.4	-	21	2687	c.2681G>A	c.(2680-2682)cGc>cAc	p.R894H	EHMT2_ENST00000375530.4_Missense_Mutation_p.R860H|EHMT2-AS1_ENST00000434689.1_RNA|EHMT2_ENST00000395728.3_Missense_Mutation_p.R951H|EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375528.4_Missense_Mutation_p.R917H	NM_006709.3	NP_006700.3	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	894					DNA methylation (GO:0006306)|DNA methylation on cytosine within a CG sequence (GO:0010424)|fertilization (GO:0009566)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ growth (GO:0035265)|peptidyl-lysine dimethylation (GO:0018027)|regulation of DNA replication (GO:0006275)|spermatid development (GO:0007286)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						CACGTCGGAGCGCTCGGGAGT	0.607																																						ENST00000395728.3																			0				central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						c.(2851-2853)cGc>cAc		euchromatic histone-lysine N-methyltransferase 2		C	HIS/ARG,HIS/ARG	1,3021		0,1,1510	149.0	141.0	144.0		2681,2579	5.1	1.0	6	dbSNP_134	144	0,5418		0,0,2709	no	missense,missense	EHMT2	NM_006709.3,NM_025256.5	29,29	0,1,4219	TT,TC,CC		0.0,0.0331,0.0118	possibly-damaging,possibly-damaging	894/1211,860/1177	31852259	1,8439	1511	2709	4220	SO:0001583	missense	10919				DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	g.chr6:31852259C>T	AF134726	CCDS4725.1, CCDS4726.1, CCDS75425.1	6p21.3	2013-01-10	2004-03-22	2005-06-09	ENSG00000204371	ENSG00000204371	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	14129	protein-coding gene	gene with protein product		604599	"""chromosome 6 open reading frame 30"", ""HLA-B associated transcript 8"""	C6orf30, BAT8		8457211, 11316813	Standard	XM_005274833		Approved	G9A, Em:AF134726.3, NG36/G9a, KMT1C	uc003nxz.1	Q96KQ7	OTTHUMG00000031180	ENST00000375537.4:c.2681G>A	6.37:g.31852259C>T	ENSP00000364687:p.Arg894His					EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375530.4_Missense_Mutation_p.R860H|EHMT2_ENST00000375528.4_Missense_Mutation_p.R917H|EHMT2_ENST00000375537.4_Missense_Mutation_p.R894H	p.R951H			Q96KQ7	EHMT2_HUMAN			20	2851	-			894					B0UZY2|Q14349|Q5JP83|Q5JQ92|Q5JQA1|Q5JQG3|Q6PK06|Q96MH5|Q96QD0|Q9UQL8|Q9Y331	Missense_Mutation	SNP	ENST00000375537.4	37	c.2852G>A	CCDS4725.1	.	.	.	.	.	.	.	.	.	.	C	12.12	1.841555	0.32513	3.31E-4	0.0	ENSG00000204371	ENST00000395728;ENST00000375528;ENST00000375530;ENST00000375537;ENST00000442298	T;T;T;T	0.70631	-0.5;-0.46;-0.41;-0.5	5.14	5.14	0.70334	Ankyrin repeat-containing domain (1);	0.194881	0.45867	D	0.000333	T	0.32645	0.0836	N	0.12182	0.205	0.35585	D	0.806619	B;B;B;B	0.29646	0.253;0.224;0.055;0.055	B;B;B;B	0.22753	0.034;0.041;0.011;0.004	T	0.37911	-0.9685	10	0.46703	T	0.11	.	7.9586	0.30057	0.0:0.825:0.0:0.175	.	917;860;894;715	A2ABF8;Q96KQ7-2;Q96KQ7;Q59FM7	.;.;EHMT2_HUMAN;.	H	951;917;860;894;715	ENSP00000379078:R951H;ENSP00000364678:R917H;ENSP00000364680:R860H;ENSP00000364687:R894H	ENSP00000364678:R917H	R	-	2	0	EHMT2	31960238	1.000000	0.71417	1.000000	0.80357	0.099000	0.18886	2.721000	0.47260	2.396000	0.81511	0.555000	0.69702	CGC		0.607	EHMT2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076355.5	NM_006709		12	82	0	0	0	1	0	12	82				
MUC17	140453	broad.mit.edu	37	7	100684766	100684766	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A9O7-01A-21D-A41K-08	TCGA-V1-A9O7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d67abdf6-e826-413f-b727-c871fac872c0	e26ab21d-ac72-4d81-b54d-2b6673106efc	g.chr7:100684766G>A	ENST00000306151.4	+	3	10133	c.10069G>A	c.(10069-10071)Gct>Act	p.A3357T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3357	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CAGTTCTGAGGCTAGCACCCT	0.483																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(10069-10071)Gct>Act		mucin 17, cell surface associated							301.0	312.0	308.0					7																	100684766		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100684766G>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.10069G>A	7.37:g.100684766G>A	ENSP00000302716:p.Ala3357Thr						p.A3357T	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	10133	+	Lung NSC(181;0.136)|all_lung(186;0.182)		3357			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.10069G>A	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	g	8.931	0.963562	0.18583	.	.	ENSG00000169876	ENST00000306151	T	0.01902	4.57	1.44	-0.746	0.11095	.	.	.	.	.	T	0.01730	0.0055	N	0.14661	0.345	0.09310	N	1	D	0.54207	0.965	P	0.50314	0.637	T	0.19063	-1.0317	9	0.02654	T	1	.	5.528	0.16968	0.3829:0.0:0.6171:0.0	.	3357	Q685J3	MUC17_HUMAN	T	3357	ENSP00000302716:A3357T	ENSP00000302716:A3357T	A	+	1	0	MUC17	100471486	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.678000	0.05209	-0.051000	0.13334	0.196000	0.17591	GCT		0.483	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		6	387	0	0	0	1	0	6	387				
NRXN3	9369	broad.mit.edu	37	14	79746701	79746701	+	Missense_Mutation	SNP	T	T	A			TCGA-V1-A9O7-01A-21D-A41K-08	TCGA-V1-A9O7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d67abdf6-e826-413f-b727-c871fac872c0	e26ab21d-ac72-4d81-b54d-2b6673106efc	g.chr14:79746701T>A	ENST00000557594.1	+	1	1020	c.67T>A	c.(67-69)Ttc>Atc	p.F23I	NRXN3_ENST00000335750.5_Intron|NRXN3_ENST00000428277.2_Missense_Mutation_p.F23I|NRXN3_ENST00000281127.7_Missense_Mutation_p.F23I|NRXN3_ENST00000554719.1_Intron	NM_001272020.1	NP_001258949.1	Q9HDB5	NRX3B_HUMAN	neurexin 3	23					adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		TGGGATCTGGTTCCTGTTCTG	0.592																																						ENST00000281127.7																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104						c.(67-69)Ttc>Atc		neurexin 3							173.0	164.0	167.0					14																	79746701		2203	4300	6503	SO:0001583	missense	9369				angiogenesis|cell adhesion	integral to membrane		g.chr14:79746701T>A	AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"""chromosome 14 open reading frame 60"""	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000557594.1:c.67T>A	14.37:g.79746701T>A	ENSP00000451672:p.Phe23Ile					NRXN3_ENST00000557594.1_Missense_Mutation_p.F23I|NRXN3_ENST00000335750.5_Intron|NRXN3_ENST00000428277.2_Missense_Mutation_p.F23I|NRXN3_ENST00000554719.1_Intron	p.F23I	NM_138970.3	NP_620426.2	Q9HDB5	NRX3B_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)	1	946	+		Renal(4;0.00876)	23					A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Missense_Mutation	SNP	ENST00000557594.1	37	c.67T>A		.	.	.	.	.	.	.	.	.	.	T	15.66	2.899138	0.52227	.	.	ENSG00000021645	ENST00000557594;ENST00000281127;ENST00000428277	T;T;T	0.34072	1.5;1.58;1.38	5.73	4.59	0.56863	.	.	.	.	.	T	0.17831	0.0428	N	0.08118	0	0.80722	D	1	B;B;B	0.18310	0.027;0.027;0.004	B;B;B	0.17722	0.019;0.019;0.008	T	0.09640	-1.0665	8	.	.	.	.	9.8457	0.41026	0.0:0.0769:0.0:0.9231	.	23;23;23	Q9HDB5-4;Q9HDB5-2;Q9HDB5	.;.;NRX3B_HUMAN	I	23	ENSP00000451672:F23I;ENSP00000281127:F23I;ENSP00000394426:F23I	.	F	+	1	0	NRXN3	78816454	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.349000	0.52217	2.187000	0.69744	0.460000	0.39030	TTC		0.592	NRXN3-004	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000413790.1	NM_001105250		7	149	0	0	0	1	0	7	149				
CELF4	56853	broad.mit.edu	37	18	34839138	34839138	+	Intron	SNP	C	C	G			TCGA-V1-A9O7-01A-21D-A41K-08	TCGA-V1-A9O7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d67abdf6-e826-413f-b727-c871fac872c0	e26ab21d-ac72-4d81-b54d-2b6673106efc	g.chr18:34839138C>G	ENST00000591282.1	-	11	1333				CELF4_ENST00000420428.2_Intron|CELF4_ENST00000591287.1_Intron|CELF4_ENST00000601019.1_Intron|CELF4_ENST00000412753.1_Intron|CELF4_ENST00000603232.1_Intron|CELF4_ENST00000588597.1_Missense_Mutation_p.V435L|CELF4_ENST00000334919.5_Intron|CELF4_ENST00000361795.5_Intron			Q9BZC1	CELF4_HUMAN	CUGBP, Elav-like family member 4						alternative mRNA splicing, via spliceosome (GO:0000380)|embryo development (GO:0009790)|germ cell development (GO:0007281)|mRNA splice site selection (GO:0006376)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of translation (GO:0017148)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	BRE binding (GO:0042835)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						GAGGAGATGACATTACCGAAA	0.522																																						ENST00000588597.1																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						c.(1303-1305)Gtc>Ctc		CUGBP, Elav-like family member 4							74.0	61.0	66.0					18																	34839138		2203	4300	6503	SO:0001627	intron_variant	56853				embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding	g.chr18:34839138C>G	AF248651	CCDS32818.1, CCDS45857.1, CCDS45858.1	18q12	2013-02-12	2010-02-19	2010-02-19				"""RNA binding motif (RRM) containing"""	14015	protein-coding gene	gene with protein product		612679	"""Bruno (Drosophila) -like 4, RNA binding protein"", ""bruno-like 4, RNA binding protein (Drosophila)"""	BRUNOL4		10893231	Standard	NM_020180		Approved		uc002lae.2	Q9BZC1		ENST00000591282.1:c.1333+5G>C	18.37:g.34839138C>G						CELF4_ENST00000591287.1_Intron|CELF4_ENST00000603232.1_Intron|CELF4_ENST00000361795.5_Intron|CELF4_ENST00000412753.1_Intron|CELF4_ENST00000334919.5_Intron|CELF4_ENST00000591282.1_Intron|CELF4_ENST00000601019.1_Intron|CELF4_ENST00000420428.2_Intron	p.V435L			Q9BZC1	CELF4_HUMAN			11	1312	-			447			RRM 3.		Q59EN7|Q86XB9|Q8N2M6|Q9BQ96|Q9NR84|Q9NR85	Missense_Mutation	SNP	ENST00000591282.1	37	c.1303G>C	CCDS32818.1																																																																																				0.522	CELF4-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000440892.1	NM_020180		3	42	0	0	0	1	0	3	42				
SUZ12P1	440423	broad.mit.edu	37	17	29061941	29061941	+	RNA	SNP	T	T	C	rs112064181		TCGA-V1-A9O7-01A-21D-A41K-08	TCGA-V1-A9O7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d67abdf6-e826-413f-b727-c871fac872c0	e26ab21d-ac72-4d81-b54d-2b6673106efc	g.chr17:29061941T>C	ENST00000582557.1	+	0	861																											TAGATTTCTTTGAACTCGGAA	0.303																																						ENST00000582557.1																			0																																																			0							g.chr17:29061941T>C																													17.37:g.29061941T>C														0	861	+									RNA	SNP	ENST00000582557.1	37																																																																																						0.303	SUZ12P-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000444260.1			5	127	0	0	0	1	0	5	127				
NRN1L	123904	broad.mit.edu	37	16	67919731	67919731	+	Silent	SNP	C	C	T	rs183334989	byFrequency	TCGA-V1-A9O7-01A-21D-A41K-08	TCGA-V1-A9O7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d67abdf6-e826-413f-b727-c871fac872c0	e26ab21d-ac72-4d81-b54d-2b6673106efc	g.chr16:67919731C>T	ENST00000339176.3	+	2	285	c.186C>T	c.(184-186)cgC>cgT	p.R62R	NRN1L_ENST00000576147.1_5'UTR|CTC-479C5.10_ENST00000572067.1_lincRNA	NM_198443.1	NP_940845.1	Q496H8	NRN1L_HUMAN	neuritin 1-like	62					nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)	7		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00415)|Epithelial(162;0.0182)|all cancers(182;0.119)		GCATGGGCCGCGGAGGCGAGC	0.612																																						ENST00000339176.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)	7						c.(184-186)cgC>cgT		neuritin 1-like							63.0	64.0	64.0					16																	67919731		2198	4300	6498	SO:0001819	synonymous_variant	123904					anchored to membrane|plasma membrane		g.chr16:67919731C>T	AY358782	CCDS10850.1	16q22.1	2008-02-05			ENSG00000188038	ENSG00000188038			29811	protein-coding gene	gene with protein product						12975309	Standard	NM_198443		Approved	UNQ2446, MRCC2446	uc002euu.3	Q496H8	OTTHUMG00000137541	ENST00000339176.3:c.186C>T	16.37:g.67919731C>T						CTC-479C5.10_ENST00000572067.1_RNA|NRN1L_ENST00000576147.1_5'UTR	p.R62R	NM_198443.1	NP_940845.1	Q496H8	NRN1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00415)|Epithelial(162;0.0182)|all cancers(182;0.119)	2	285	+		Ovarian(137;0.192)	62					Q6UWH7	Silent	SNP	ENST00000339176.3	37	c.186C>T	CCDS10850.1																																																																																				0.612	NRN1L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268872.2	NM_198443		5	69	0	0	0	1	0	5	69				
RUNDC1	146923	broad.mit.edu	37	17	41143701	41143701	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9O7-01A-21D-A41K-08	TCGA-V1-A9O7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d67abdf6-e826-413f-b727-c871fac872c0	e26ab21d-ac72-4d81-b54d-2b6673106efc	g.chr17:41143701C>T	ENST00000361677.1	+	5	1822	c.1810C>T	c.(1810-1812)Cgc>Tgc	p.R604C		NM_173079.2	NP_775102	Q96C34	RUND1_HUMAN	RUN domain containing 1	604										breast(1)|large_intestine(2)|lung(4)|prostate(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		TCTGGCTGTGCGCCAGCTCAA	0.522																																						ENST00000361677.1																			0				breast(1)|large_intestine(2)|lung(4)|prostate(1)	8						c.(1810-1812)Cgc>Tgc		RUN domain containing 1							58.0	54.0	55.0					17																	41143701		2203	4300	6503	SO:0001583	missense	146923							g.chr17:41143701C>T	AL831813	CCDS11448.1	17q21.31	2004-02-27				ENSG00000198863			25418	protein-coding gene	gene with protein product						12477932	Standard	NM_173079		Approved	DKFZp761H0421	uc002ici.1	Q96C34		ENST00000361677.1:c.1810C>T	17.37:g.41143701C>T	ENSP00000354622:p.Arg604Cys						p.R604C	NM_173079.2	NP_775102.2	Q96C34	RUND1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.161)	5	1822	+		Breast(137;0.00499)	604					Q6Y2K8|Q8IXT9|Q8N3W1	Missense_Mutation	SNP	ENST00000361677.1	37	c.1810C>T	CCDS11448.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.161777	0.78226	.	.	ENSG00000198863	ENST00000361677	T	0.27256	1.68	5.12	5.12	0.69794	.	0.063724	0.64402	D	0.000006	T	0.49643	0.1569	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.68621	0.959	T	0.50083	-0.8869	10	0.87932	D	0	-19.7529	18.7576	0.91838	0.0:1.0:0.0:0.0	.	604	Q96C34	RUND1_HUMAN	C	604	ENSP00000354622:R604C	ENSP00000354622:R604C	R	+	1	0	RUNDC1	38397227	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.708000	0.68377	2.667000	0.90743	0.655000	0.94253	CGC		0.522	RUNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452464.1	NM_173079		6	64	0	0	0	1	0	6	64				
OR10J5	127385	broad.mit.edu	37	1	159505743	159505743	+	Missense_Mutation	SNP	T	T	C	rs200510791		TCGA-V1-A9O7-01A-21D-A41K-08	TCGA-V1-A9O7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d67abdf6-e826-413f-b727-c871fac872c0	e26ab21d-ac72-4d81-b54d-2b6673106efc	g.chr1:159505743T>C	ENST00000334857.2	-	1	99	c.55A>G	c.(55-57)Agc>Ggc	p.S19G		NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J, member 5	19						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					TTTCCAAAGCTAGAAAATCCC	0.373																																						ENST00000334857.2																			0				kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(55-57)Agc>Ggc		olfactory receptor, family 10, subfamily J, member 5		T	GLY/SER	0,4406		0,0,2203	79.0	78.0	78.0		55	3.3	0.1	1		78	2,8598	2.2+/-6.3	0,2,4298	no	missense	OR10J5	NM_001004469.1	56	0,2,6501	CC,CT,TT		0.0233,0.0,0.0154	benign	19/310	159505743	2,13004	2203	4300	6503	SO:0001583	missense	127385				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:159505743T>C		CCDS30910.1	1q23.2	2012-08-09			ENSG00000184155	ENSG00000184155		"""GPCR / Class A : Olfactory receptors"""	14993	protein-coding gene	gene with protein product							Standard	NM_001004469		Approved		uc010piw.2	Q8NHC4	OTTHUMG00000022738	ENST00000334857.2:c.55A>G	1.37:g.159505743T>C	ENSP00000334441:p.Ser19Gly						p.S19G	NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN			1	99	-	all_hematologic(112;0.0429)		19					B9EH35|Q6IFH2	Missense_Mutation	SNP	ENST00000334857.2	37	c.55A>G	CCDS30910.1	.	.	.	.	.	.	.	.	.	.	T	6.146	0.395146	0.11638	0.0	2.33E-4	ENSG00000184155	ENST00000334857	T	0.00000	10.25	4.43	3.29	0.37713	.	.	.	.	.	T	0.00012	0.0000	L	0.28776	0.89	0.09310	N	1	B	0.10296	0.003	B	0.10450	0.005	T	0.42816	-0.9429	9	0.40728	T	0.16	.	6.1544	0.20330	0.0:0.2014:0.0:0.7986	.	19	Q8NHC4	O10J5_HUMAN	G	19	ENSP00000334441:S19G	ENSP00000334441:S19G	S	-	1	0	OR10J5	157772367	0.000000	0.05858	0.077000	0.20336	0.259000	0.26198	0.073000	0.14640	0.822000	0.34565	0.455000	0.32223	AGC		0.373	OR10J5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059021.1	NM_001004469		6	103	0	0	0	1	0	6	103				
DIP2C	22982	broad.mit.edu	37	10	518459	518459	+	Missense_Mutation	SNP	C	C	A	rs539130064		TCGA-V1-A9O7-01A-21D-A41K-08	TCGA-V1-A9O7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d67abdf6-e826-413f-b727-c871fac872c0	e26ab21d-ac72-4d81-b54d-2b6673106efc	g.chr10:518459C>A	ENST00000280886.6	-	3	275	c.188G>T	c.(187-189)cGg>cTg	p.R63L	DIP2C_ENST00000381496.3_5'UTR	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	63	DMAP-interaction.					nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		GACAGGAGCCCGGCGTTCTTG	0.572																																						ENST00000280886.6																			0				breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81						c.(187-189)cGg>cTg		DIP2 disco-interacting protein 2 homolog C (Drosophila)							154.0	144.0	147.0					10																	518459		2203	4300	6503	SO:0001583	missense	22982					nucleus	catalytic activity|transcription factor binding	g.chr10:518459C>A	BC035216	CCDS7054.1	10p15.3	2006-01-13	2006-01-13	2006-01-13	ENSG00000151240	ENSG00000151240			29150	protein-coding gene	gene with protein product		611380	"""KIAA0934"""	KIAA0934			Standard	NM_014974		Approved		uc001ifp.3	Q9Y2E4	OTTHUMG00000017532	ENST00000280886.6:c.188G>T	10.37:g.518459C>A	ENSP00000280886:p.Arg63Leu					DIP2C_ENST00000381496.3_5'UTR	p.R63L	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)	3	275	-		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	63					B4DPI5|Q5SS78	Missense_Mutation	SNP	ENST00000280886.6	37	c.188G>T	CCDS7054.1	.	.	.	.	.	.	.	.	.	.	C	12.78	2.040311	0.35989	.	.	ENSG00000151240	ENST00000280886;ENST00000423550	T;T	0.43294	0.95;0.95	5.53	4.63	0.57726	DMAP1-binding (1);	0.070349	0.56097	D	0.000034	T	0.41971	0.1182	M	0.63843	1.955	0.80722	D	1	P	0.37141	0.584	B	0.36030	0.216	T	0.40831	-0.9542	10	0.51188	T	0.08	-22.0716	13.5991	0.62010	0.0:0.924:0.0:0.076	.	63	Q9Y2E4	DIP2C_HUMAN	L	63;119	ENSP00000280886:R63L;ENSP00000408786:R119L	ENSP00000280886:R63L	R	-	2	0	DIP2C	508459	1.000000	0.71417	0.987000	0.45799	0.041000	0.13682	4.280000	0.58959	1.364000	0.46038	-0.409000	0.06214	CGG		0.572	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046389.1	NM_014974		12	59	1	0	1.61879e-10	1	1.83463e-10	12	59				
GRM1	2911	broad.mit.edu	37	6	146755630	146755632	+	In_Frame_Del	DEL	GAC	GAC	-	rs568155311		TCGA-V1-A9O7-01A-21D-A41K-08	TCGA-V1-A9O7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d67abdf6-e826-413f-b727-c871fac872c0	e26ab21d-ac72-4d81-b54d-2b6673106efc	g.chr6:146755630_146755632delGAC	ENST00000282753.1	+	8	3518_3520	c.3283_3285delGAC	c.(3283-3285)gacdel	p.D1099del	GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000361719.2_In_Frame_Del_p.D1099del|GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000392299.2_3'UTR			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	1099	Asp/Glu-rich (acidic).				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		CCCGCCCGCGGACGACGACGACG	0.65																																						ENST00000361719.2																			0				NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126						c.(3283-3285)del		glutamate receptor, metabotropic 1	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)																																			SO:0001651	inframe_deletion	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146755630_146755632delGAC	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.3283_3285delGAC	6.37:g.146755639_146755641delGAC	ENSP00000282753:p.Asp1099del					GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000282753.1_In_Frame_Del_p.D1099del|GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000492807.2_3'UTR	p.D1099del	NM_001278064.1	NP_001264993.1	Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	9	3753_3755	+		Ovarian(120;0.0387)	1099			Asp/Glu-rich (acidic).		B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	In_Frame_Del	DEL	ENST00000282753.1	37	c.3283_3285delGAC	CCDS5209.1																																																																																				0.650	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		7	143						7	143	---	---	---	---
ATM	472	broad.mit.edu	37	11	108159780	108159784	+	Frame_Shift_Del	DEL	TGTCA	TGTCA	-			TCGA-V1-A9O7-01A-21D-A41K-08	TCGA-V1-A9O7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d67abdf6-e826-413f-b727-c871fac872c0	e26ab21d-ac72-4d81-b54d-2b6673106efc	g.chr11:108159780_108159784delTGTCA	ENST00000452508.2	+	29	4375_4379	c.4186_4190delTGTCA	c.(4186-4191)tgtcatfs	p.CH1396fs	ATM_ENST00000278616.4_Frame_Shift_Del_p.CH1396fs			Q13315	ATM_HUMAN	ATM serine/threonine kinase	1396					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	TATCAGCAATTGTCATAAAACCAAG	0.322			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												ENST00000278616.4			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	"""D, Mis, N, F, S"""	ataxia telangiectasia mutated			"""L, O"""		"""leukemia, lymphoma, medulloblastoma, glioma"""	T-PLL		0				NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448						c.(4186-4191)tfs	Genes defective in diseases associated with sensitivity to DNA damaging agents	ataxia telangiectasia mutated																																				SO:0001589	frameshift_variant	472	Ataxia Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108159780_108159784delTGTCA	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.4186_4190delTGTCA	11.37:g.108159780_108159784delTGTCA	ENSP00000388058:p.Cys1396fs	TSP Lung(14;0.12)				ATM_ENST00000452508.2_Frame_Shift_Del_p.CH1396fs	p.CH1396fs	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	28	4571_4575	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	1396					B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Frame_Shift_Del	DEL	ENST00000452508.2	37	c.4186_4190delTGTCA	CCDS31669.1																																																																																				0.322	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		7	43						7	43	---	---	---	---
ROBO3	64221	broad.mit.edu	37	11	124739423	124739423	+	Frame_Shift_Del	DEL	C	C	-			TCGA-V1-A9O7-01A-21D-A41K-08	TCGA-V1-A9O7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d67abdf6-e826-413f-b727-c871fac872c0	e26ab21d-ac72-4d81-b54d-2b6673106efc	g.chr11:124739423delC	ENST00000397801.1	+	3	757	c.565delC	c.(565-567)cccfs	p.P190fs	ROBO3_ENST00000538940.1_Frame_Shift_Del_p.P168fs	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	190	Ig-like C2-type 2.				axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|neuron migration (GO:0001764)	axon (GO:0030424)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		GGAATGCGTGCCCCCCCGCGG	0.642																																						ENST00000397801.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35						c.(565-567)ccfs		roundabout, axon guidance receptor, homolog 3 (Drosophila)				35,3441		13,9,1716	19.0	21.0	20.0			0.5	0.9	11		21	84,7588		31,22,3783	no	frameshift	ROBO3	NM_022370.3		44,31,5499	A1A1,A1R,RR		1.0949,1.0069,1.0675			124739423	119,11029	1834	4037	5871	SO:0001589	frameshift_variant	64221				axon midline choice point recognition	integral to membrane	receptor activity	g.chr11:124739423delC	AK024697	CCDS44755.1	11q24	2013-02-11	2001-11-28		ENSG00000154134	ENSG00000154134		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13433	protein-coding gene	gene with protein product		608630	"""roundabout (axon guidance receptor, Drosophila) homolog 3"", ""horizontal gaze palsy with progressive scoliosis"""	HGPPS		15105459	Standard	NM_022370		Approved	RBIG1, FLJ21044, HGPS	uc001qbc.3	Q96MS0	OTTHUMG00000165934	ENST00000397801.1:c.565delC	11.37:g.124739423delC	ENSP00000380903:p.Pro190fs					ROBO3_ENST00000538940.1_Frame_Shift_Del_p.P168fs	p.P190fs	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)	3	757	+	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)	190			Ig-like C2-type 2.			Frame_Shift_Del	DEL	ENST00000397801.1	37	c.565delC	CCDS44755.1																																																																																				0.642	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387091.1	XM_370663		2	4						2	4	---	---	---	---
