#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
CARD14	79092	broad.mit.edu	37	17	78178942	78178942	+	Missense_Mutation	SNP	C	C	T	rs368705564		TCGA-V1-A9ZR-01A-11D-A41K-08	TCGA-V1-A9ZR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1161c64b-4a41-4fce-a9d4-73d4f091c044	a78aaabf-765f-422c-80b1-597ef3a0c26d	g.chr17:78178942C>T	ENST00000573882.1	+	20	3043	c.2507C>T	c.(2506-2508)gCg>gTg	p.A836V	RP11-334C17.5_ENST00000572730.1_RNA|CARD14_ENST00000344227.2_Missense_Mutation_p.A836V|RP11-334C17.5_ENST00000576824.1_RNA|RP11-334C17.5_ENST00000573346.1_RNA|RP11-334C17.5_ENST00000570309.1_RNA|RP11-334C17.5_ENST00000573935.1_RNA			Q9BXL6	CAR14_HUMAN	caspase recruitment domain family, member 14	836	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			GTGCCCAGGGCGGTTGGGAAG	0.647																																						ENST00000573882.1																			0				NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23						c.(2506-2508)gCg>gTg		caspase recruitment domain family, member 14		C	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	80.0	77.0	78.0		2507	3.0	0.0	17		78	0,8600		0,0,4300	no	missense	CARD14	NM_024110.3	64	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	836/1005	78178942	1,13005	2203	4300	6503	SO:0001583	missense	79092				activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding	g.chr17:78178942C>T	AF322642	CCDS11768.1, CCDS58605.1	17q25.3	2014-09-04			ENSG00000141527	ENSG00000141527			16446	protein-coding gene	gene with protein product		607211	"""psoriasis susceptibility 2"""	PSORS2		11278692, 11356195, 22521418	Standard	NM_052819		Approved	CARMA2, BIMP2	uc031res.1	Q9BXL6	OTTHUMG00000177549	ENST00000573882.1:c.2507C>T	17.37:g.78178942C>T	ENSP00000458715:p.Ala836Val					RP11-334C17.5_ENST00000576824.1_RNA|RP11-334C17.5_ENST00000573346.1_RNA|CARD14_ENST00000344227.2_Missense_Mutation_p.A836V	p.A836V			Q9BXL6	CAR14_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)		20	3043	+	all_neural(118;0.0952)		836			Guanylate kinase-like.		B8QQJ3|Q9BVB5	Missense_Mutation	SNP	ENST00000573882.1	37	c.2507C>T	CCDS11768.1	.	.	.	.	.	.	.	.	.	.	C	1.516	-0.548088	0.04024	2.27E-4	0.0	ENSG00000141527	ENST00000344227	T	0.04654	3.58	4.13	3.04	0.35103	Guanylate kinase/L-type calcium channel (1);	0.700731	0.13622	N	0.374359	T	0.01124	0.0037	N	0.00246	-1.78	0.24861	N	0.992344	B	0.02656	0.0	B	0.01281	0.0	T	0.44329	-0.9335	10	0.02654	T	1	-5.183	7.8682	0.29549	0.0:0.1052:0.0:0.8948	.	836	Q9BXL6	CAR14_HUMAN	V	836	ENSP00000344549:A836V	ENSP00000344549:A836V	A	+	2	0	CARD14	75793537	0.914000	0.31030	0.002000	0.10522	0.874000	0.50279	3.612000	0.54142	0.456000	0.26937	-0.573000	0.04149	GCG		0.647	CARD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437507.1			8	31	0	0	0	1	0	8	31				
HERC2P3	283755	broad.mit.edu	37	15	20643874	20643874	+	RNA	SNP	G	G	T			TCGA-V1-A9ZR-01A-11D-A41K-08	TCGA-V1-A9ZR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1161c64b-4a41-4fce-a9d4-73d4f091c044	a78aaabf-765f-422c-80b1-597ef3a0c26d	g.chr15:20643874G>T	ENST00000428453.1	-	0	3585							Q9BVR0	HRC23_HUMAN	hect domain and RLD 2 pseudogene 3								metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						GGGCAAACGTGACACGTCCGC	0.488																																						ENST00000428453.1																			0				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35															96.0	80.0	85.0					15																	20643874		2189	4269	6458			0							g.chr15:20643874G>T	AF041081		15q11.2	2010-08-02			ENSG00000180229	ENSG00000180229			4871	pseudogene	pseudogene						9730612	Standard	NR_036432		Approved	D15F37S4, LOC283755	uc001ytg.3	Q9BVR0	OTTHUMG00000157175		15.37:g.20643874G>T														0	3585	-									RNA	SNP	ENST00000428453.1	37																																																																																						0.488	HERC2P3-014	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347772.2	NG_008269		25	163	1	0	2.79863e-10	1	2.95129e-10	25	163				
ARMC9	80210	broad.mit.edu	37	2	232104723	232104723	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9ZR-01A-11D-A41K-08	TCGA-V1-A9ZR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1161c64b-4a41-4fce-a9d4-73d4f091c044	a78aaabf-765f-422c-80b1-597ef3a0c26d	g.chr2:232104723C>T	ENST00000349938.4	+	9	1042	c.848C>T	c.(847-849)gCg>gTg	p.A283V	ARMC9_ENST00000483477.1_3'UTR	NM_001271466.1|NM_025139.4	NP_001258395.1|NP_079415	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	283						extracellular vesicular exosome (GO:0070062)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		CAGAGCCTGGCGCATAGTGTG	0.552																																						ENST00000349938.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(847-849)gCg>gTg		armadillo repeat containing 9							74.0	59.0	64.0					2																	232104723		2203	4300	6503	SO:0001583	missense	80210						binding	g.chr2:232104723C>T	BC004514	CCDS2484.1, CCDS74666.1	2q37.1	2013-02-14			ENSG00000135931	ENSG00000135931		"""Armadillo repeat containing"""	20730	protein-coding gene	gene with protein product						11347906	Standard	NM_025139		Approved	FLJ12584, KIAA1868, ARM, KU-MEL-1	uc031rrs.1	Q7Z3E5	OTTHUMG00000133229	ENST00000349938.4:c.848C>T	2.37:g.232104723C>T	ENSP00000258417:p.Ala283Val					ARMC9_ENST00000483477.1_3'UTR	p.A283V	NM_001271466.1|NM_025139.3	NP_001258395.1|NP_079415.3	Q7Z3E5	ARMC9_HUMAN		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)	9	1042	+		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)	283					Q53TI3|Q6P162|Q7L594|Q86WG2|Q96JF9|Q9H9R8	Missense_Mutation	SNP	ENST00000349938.4	37	c.848C>T	CCDS2484.1	.	.	.	.	.	.	.	.	.	.	C	18.83	3.707894	0.68615	.	.	ENSG00000135931	ENST00000349938;ENST00000359743;ENST00000444285	T	0.18810	2.19	5.03	5.03	0.67393	.	0.064498	0.64402	D	0.000012	T	0.18299	0.0439	L	0.47716	1.5	0.48901	D	0.999721	B	0.33583	0.418	B	0.19666	0.026	T	0.03503	-1.1030	10	0.27785	T	0.31	-3.5845	16.518	0.84306	0.0:1.0:0.0:0.0	.	283	Q7Z3E5	ARMC9_HUMAN	V	283;283;37	ENSP00000258417:A283V	ENSP00000258417:A283V	A	+	2	0	ARMC9	231812967	0.979000	0.34478	0.965000	0.40720	0.968000	0.65278	2.326000	0.43849	2.309000	0.77851	0.561000	0.74099	GCG		0.552	ARMC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256966.3	NM_025139		8	12	0	0	0	1	0	8	12				
IKZF1	10320	broad.mit.edu	37	7	50444412	50444412	+	Silent	SNP	C	C	T	rs185632810		TCGA-V1-A9ZR-01A-11D-A41K-08	TCGA-V1-A9ZR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1161c64b-4a41-4fce-a9d4-73d4f091c044	a78aaabf-765f-422c-80b1-597ef3a0c26d	g.chr7:50444412C>T	ENST00000331340.3	+	4	497	c.342C>T	c.(340-342)aaC>aaT	p.N114N	IKZF1_ENST00000439701.1_Silent_p.N114N|IKZF1_ENST00000438033.1_Intron|IKZF1_ENST00000349824.4_Silent_p.N114N|IKZF1_ENST00000346667.4_Intron|IKZF1_ENST00000440768.2_Silent_p.N114N|IKZF1_ENST00000343574.5_Intron|IKZF1_ENST00000359197.5_Silent_p.N114N|IKZF1_ENST00000357364.4_Silent_p.N114N	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	114					B cell differentiation (GO:0030183)|cell cycle (GO:0007049)|chromatin modification (GO:0016568)|forebrain development (GO:0030900)|lymph node development (GO:0048535)|mesoderm development (GO:0007498)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Peyer's patch development (GO:0048541)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neutrophil differentiation (GO:0045660)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|T cell differentiation (GO:0030217)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(131)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				GACTTCCTAACGGAAAACTAA	0.493			"""D,T"""	BCL6	"""ALL, DLBCL"""																																	ENST00000331340.3				"""Rec,Dom"""	yes		7	7p12.2	10320	"""D,T"""	IKAROS family zinc finger 1			L	BCL6		"""ALL, DLBCL"""		131	Unknown(131)	p.?(131)	haematopoietic_and_lymphoid_tissue(131)	haematopoietic_and_lymphoid_tissue(275)|lung(1)	276						c.(340-342)aaC>aaT		IKAROS family zinc finger 1 (Ikaros)		C	,,,	1,3887		0,1,1943	79.0	81.0	81.0		182,182,182,182	3.6	1.0	7		81	0,8296		0,0,4148	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	IKZF1	NM_001220765.1,NM_001220768.1,NM_001220771.1,NM_006060.4	,,,	0,1,6091	TT,TC,CC		0.0,0.0257,0.0082	,,,	114/478,114/433,114/377,114/520	50444412	1,12183	1944	4148	6092	SO:0001819	synonymous_variant	10320				cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	g.chr7:50444412C>T	U40462	CCDS59055.1, CCDS69299.1, CCDS75596.1, CCDS75597.1	7p12.2	2014-06-12	2006-08-25	2006-08-25	ENSG00000185811	ENSG00000185811		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13176	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 92"""	603023	"""zinc finger protein, subfamily 1A, 1 (Ikaros)"""	ZNFN1A1		1439790, 7935426	Standard	NM_006060		Approved	hIk-1, LyF-1, Hs.54452, IKAROS, PPP1R92	uc003tow.4	Q13422	OTTHUMG00000155907	ENST00000331340.3:c.342C>T	7.37:g.50444412C>T						IKZF1_ENST00000357364.4_Silent_p.N114N|IKZF1_ENST00000346667.4_Intron|IKZF1_ENST00000438033.1_Intron|IKZF1_ENST00000359197.5_Silent_p.N114N|IKZF1_ENST00000439701.1_Silent_p.N114N|IKZF1_ENST00000349824.4_Silent_p.N114N|IKZF1_ENST00000343574.5_Intron|IKZF1_ENST00000440768.2_Silent_p.N114N	p.N114N	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN			4	497	+	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)	114					A4D260|B4E0Z1|D3DVM5|O00598|Q53XL2|Q69BM4|Q8WVA3	Silent	SNP	ENST00000331340.3	37	c.342C>T																																																																																					0.493	IKZF1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000342242.1	NM_006060		8	26	0	0	0	1	0	8	26				
DOPEY1	23033	broad.mit.edu	37	6	83838979	83838979	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9ZR-01A-11D-A41K-08	TCGA-V1-A9ZR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1161c64b-4a41-4fce-a9d4-73d4f091c044	a78aaabf-765f-422c-80b1-597ef3a0c26d	g.chr6:83838979C>T	ENST00000349129.2	+	16	2353	c.2093C>T	c.(2092-2094)tCt>tTt	p.S698F	DOPEY1_ENST00000237163.5_Missense_Mutation_p.S679F|DOPEY1_ENST00000369739.3_Missense_Mutation_p.S689F	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	698					protein transport (GO:0015031)					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		CAGAATAACTCTTTTTCTCAG	0.418																																						ENST00000349129.2																			0				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67						c.(2092-2094)tCt>tTt		dopey family member 1							103.0	104.0	104.0					6																	83838979		2203	4300	6503	SO:0001583	missense	23033				protein transport			g.chr6:83838979C>T	AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"""KIAA1117"""	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.2093C>T	6.37:g.83838979C>T	ENSP00000195654:p.Ser698Phe					DOPEY1_ENST00000237163.5_Missense_Mutation_p.S679F|DOPEY1_ENST00000369739.3_Missense_Mutation_p.S689F	p.S698F	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.053)	16	2353	+		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)	698					Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Missense_Mutation	SNP	ENST00000349129.2	37	c.2093C>T	CCDS4996.1	.	.	.	.	.	.	.	.	.	.	C	5.696	0.313011	0.10789	.	.	ENSG00000083097	ENST00000349129;ENST00000237163;ENST00000369739	T;T	0.24538	1.85;1.85	5.48	3.65	0.41850	.	0.323894	0.26769	N	0.022595	T	0.10981	0.0268	L	0.51422	1.61	0.37683	D	0.923563	B;P;P	0.39665	0.242;0.682;0.682	B;B;B	0.32090	0.094;0.14;0.14	T	0.03335	-1.1047	10	0.66056	D	0.02	.	12.3543	0.55165	0.1345:0.7364:0.1291:0.0	.	589;689;698	E1P545;B2RWN9;Q5JWR5	.;.;DOP1_HUMAN	F	698;679;679	ENSP00000195654:S698F;ENSP00000237163:S679F	ENSP00000237163:S679F	S	+	2	0	DOPEY1	83895698	0.223000	0.23663	0.001000	0.08648	0.000000	0.00434	1.048000	0.30379	0.634000	0.30469	-0.176000	0.13171	TCT		0.418	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043785.2	NM_015018		25	52	0	0	0	1	0	25	52				
GUF1	60558	broad.mit.edu	37	4	44691372	44691372	+	Missense_Mutation	SNP	A	A	C			TCGA-V1-A9ZR-01A-11D-A41K-08	TCGA-V1-A9ZR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1161c64b-4a41-4fce-a9d4-73d4f091c044	a78aaabf-765f-422c-80b1-597ef3a0c26d	g.chr4:44691372A>C	ENST00000281543.5	+	10	1342	c.1148A>C	c.(1147-1149)gAt>gCt	p.D383A	GUF1_ENST00000506793.1_3'UTR	NM_021927.2	NP_068746.2			GUF1 GTPase homolog (S. cerevisiae)											breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						ACTTTAAATGATTCCAGTGTG	0.398																																						ENST00000281543.5																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						c.(1147-1149)gAt>gCt		GUF1 GTPase homolog (S. cerevisiae)							139.0	142.0	141.0					4																	44691372		2203	4300	6503	SO:0001583	missense	60558				translation	mitochondrial inner membrane	GTP binding|GTPase activity	g.chr4:44691372A>C		CCDS3468.1	4p13	2006-02-16			ENSG00000151806	ENSG00000151806			25799	protein-coding gene	gene with protein product						8553703	Standard	NM_021927		Approved	FLJ13220	uc003gww.4	Q8N442	OTTHUMG00000128608	ENST00000281543.5:c.1148A>C	4.37:g.44691372A>C	ENSP00000281543:p.Asp383Ala					GUF1_ENST00000506793.1_3'UTR	p.D383A	NM_021927.2	NP_068746.2	Q8N442	GUF1_HUMAN			10	1342	+			383						Missense_Mutation	SNP	ENST00000281543.5	37	c.1148A>C	CCDS3468.1	.	.	.	.	.	.	.	.	.	.	A	25.9	4.682340	0.88542	.	.	ENSG00000151806	ENST00000281543	D	0.84070	-1.8	5.72	5.72	0.89469	Elongation factor G/III/V (1);	0.047895	0.85682	D	0.000000	D	0.93943	0.8061	H	0.96111	3.77	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.95655	0.8710	10	0.87932	D	0	-6.6814	15.1896	0.73032	1.0:0.0:0.0:0.0	.	383	Q8N442	GUF1_HUMAN	A	383	ENSP00000281543:D383A	ENSP00000281543:D383A	D	+	2	0	GUF1	44386129	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	8.948000	0.93006	2.172000	0.68678	0.528000	0.53228	GAT		0.398	GUF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250469.3	NM_021927		11	46	0	0	0	1	0	11	46				
DOPEY1	23033	broad.mit.edu	37	6	83855351	83855351	+	Nonsense_Mutation	SNP	C	C	T			TCGA-V1-A9ZR-01A-11D-A41K-08	TCGA-V1-A9ZR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1161c64b-4a41-4fce-a9d4-73d4f091c044	a78aaabf-765f-422c-80b1-597ef3a0c26d	g.chr6:83855351C>T	ENST00000349129.2	+	25	5910	c.5650C>T	c.(5650-5652)Cag>Tag	p.Q1884*	DOPEY1_ENST00000237163.5_Nonsense_Mutation_p.Q1865*|DOPEY1_ENST00000369739.3_Nonsense_Mutation_p.Q1875*|DOPEY1_ENST00000484282.1_3'UTR	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	1884					protein transport (GO:0015031)					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		AGTTTTAAAGCAGCCACCAGC	0.368																																						ENST00000349129.2																			0				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67						c.(5650-5652)Cag>Tag		dopey family member 1							69.0	64.0	66.0					6																	83855351		2203	4300	6503	SO:0001587	stop_gained	23033				protein transport			g.chr6:83855351C>T	AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"""KIAA1117"""	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.5650C>T	6.37:g.83855351C>T	ENSP00000195654:p.Gln1884*					DOPEY1_ENST00000237163.5_Nonsense_Mutation_p.Q1865*|DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000369739.3_Nonsense_Mutation_p.Q1875*	p.Q1884*	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.053)	25	5910	+		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)	1884					Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Nonsense_Mutation	SNP	ENST00000349129.2	37	c.5650C>T	CCDS4996.1	.	.	.	.	.	.	.	.	.	.	C	48	14.315009	0.99789	.	.	ENSG00000083097	ENST00000349129;ENST00000237163;ENST00000369739	.	.	.	6.05	6.05	0.98169	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	.	20.599	0.99451	0.0:1.0:0.0:0.0	.	.	.	.	X	1884;1865;1865	.	ENSP00000237163:Q1865X	Q	+	1	0	DOPEY1	83912070	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.463000	0.80869	2.871000	0.98454	0.637000	0.83480	CAG		0.368	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043785.2	NM_015018		8	28	0	0	0	1	0	8	28				
GABBR2	9568	broad.mit.edu	37	9	101235478	101235478	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9ZR-01A-11D-A41K-08	TCGA-V1-A9ZR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1161c64b-4a41-4fce-a9d4-73d4f091c044	a78aaabf-765f-422c-80b1-597ef3a0c26d	g.chr9:101235478C>T	ENST00000259455.2	-	6	1408	c.949G>A	c.(949-951)Gtg>Atg	p.V317M	GABBR2_ENST00000477471.1_5'Flank	NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	317					G-protein coupled receptor signaling pathway (GO:0007186)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled GABA receptor activity (GO:0004965)		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	TCGAAATCCACGCCAATGTAG	0.567																																						ENST00000259455.2																		NOTCH1_ENST00000277541/GABBR2(2)	0				breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49						c.(949-951)Gtg>Atg		gamma-aminobutyric acid (GABA) B receptor, 2	Baclofen(DB00181)						161.0	118.0	133.0					9																	101235478		2203	4300	6503	SO:0001583	missense	9568				negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr9:101235478C>T	AF069755	CCDS6736.1	9q22.1-q22.3	2012-08-29	2006-02-16	2006-02-16	ENSG00000136928	ENSG00000136928		"""GABA receptors"", ""GPCR / Class C : GABA(B) receptors"""	4507	protein-coding gene	gene with protein product		607340	"""G protein-coupled receptor 51"""	GPR51		10087195	Standard	NM_005458		Approved	HG20, GABABR2, GPRC3B	uc004ays.3	O75899	OTTHUMG00000020345	ENST00000259455.2:c.949G>A	9.37:g.101235478C>T	ENSP00000259455:p.Val317Met						p.V317M	NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN			6	1408	-		Acute lymphoblastic leukemia(62;0.0527)	317					O75974|O75975|Q5VXZ2|Q8WX04|Q9P1R2|Q9UNR1|Q9UNS9	Missense_Mutation	SNP	ENST00000259455.2	37	c.949G>A	CCDS6736.1	.	.	.	.	.	.	.	.	.	.	C	19.36	3.813354	0.70912	.	.	ENSG00000136928	ENST00000259455	T	0.27256	1.68	5.94	5.94	0.96194	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	T	0.47893	0.1470	L	0.52573	1.65	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.33497	-0.9866	10	0.72032	D	0.01	.	17.8674	0.88799	0.0:1.0:0.0:0.0	.	317	O75899	GABR2_HUMAN	M	317	ENSP00000259455:V317M	ENSP00000259455:V317M	V	-	1	0	GABBR2	100275299	1.000000	0.71417	0.969000	0.41365	0.752000	0.42762	7.787000	0.85759	2.820000	0.97059	0.650000	0.86243	GTG		0.567	GABBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053373.1			7	27	0	0	0	1	0	7	27				
GRIN1	2902	broad.mit.edu	37	9	140036477	140036477	+	Missense_Mutation	SNP	C	C	A			TCGA-V1-A9ZR-01A-11D-A41K-08	TCGA-V1-A9ZR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1161c64b-4a41-4fce-a9d4-73d4f091c044	a78aaabf-765f-422c-80b1-597ef3a0c26d	g.chr9:140036477C>A	ENST00000371561.3	+	2	1368	c.271C>A	c.(271-273)Cta>Ata	p.L91I	GRIN1_ENST00000350902.5_Missense_Mutation_p.L91I|GRIN1_ENST00000371553.3_Missense_Mutation_p.L91I|GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000371560.3_Missense_Mutation_p.L91I|GRIN1_ENST00000371555.4_Missense_Mutation_p.L91I|GRIN1_ENST00000371546.4_Missense_Mutation_p.L91I|GRIN1_ENST00000371550.4_Missense_Mutation_p.L91I|GRIN1_ENST00000315048.3_Missense_Mutation_p.L91I|GRIN1_ENST00000371559.4_Missense_Mutation_p.L91I	NM_007327.3	NP_015566.1	Q05586	NMDZ1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 1	91					adult locomotory behavior (GO:0008344)|calcium ion homeostasis (GO:0055074)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular calcium ion homeostasis (GO:0006874)|cellular response to manganese ion (GO:0071287)|cerebral cortex development (GO:0021987)|conditioned taste aversion (GO:0001661)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|male mating behavior (GO:0060179)|negative regulation of neuron apoptotic process (GO:0043524)|olfactory learning (GO:0008355)|pons maturation (GO:0021586)|positive regulation of apoptotic process (GO:0043065)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prepulse inhibition (GO:0060134)|propylene metabolic process (GO:0018964)|protein tetramerization (GO:0051262)|regulation of axonogenesis (GO:0050770)|regulation of dendrite morphogenesis (GO:0048814)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of membrane potential (GO:0042391)|regulation of respiratory gaseous exchange (GO:0043576)|regulation of synapse assembly (GO:0051963)|respiratory gaseous exchange (GO:0007585)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|response to ethanol (GO:0045471)|response to fungicide (GO:0060992)|response to morphine (GO:0043278)|rhythmic process (GO:0048511)|sensory perception of pain (GO:0019233)|social behavior (GO:0035176)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)|synaptic cleft (GO:0043083)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate binding (GO:0016595)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|voltage-gated cation channel activity (GO:0022843)			NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CTACGCCATCCTAGTTAGCCA	0.602																																					NSCLC(113;717 1653 2089 20474 37618)	ENST00000371561.3																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(271-273)Cta>Ata		glutamate receptor, ionotropic, N-methyl D-aspartate 1	L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)						421.0	341.0	368.0					9																	140036477		2203	4300	6503	SO:0001583	missense	2902				ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome	calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding	g.chr9:140036477C>A		CCDS7031.1, CCDS7032.1, CCDS43910.1, CCDS55354.1, CCDS55355.1	9q34.3	2013-01-11			ENSG00000176884	ENSG00000176884		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4584	protein-coding gene	gene with protein product		138249	"""N-methyl-D-aspartate receptor subunit NR1"""	NMDAR1		1350383	Standard	NM_000832		Approved	GluN1	uc004cln.3	Q05586	OTTHUMG00000020976	ENST00000371561.3:c.271C>A	9.37:g.140036477C>A	ENSP00000360616:p.Leu91Ile					GRIN1_ENST00000371546.4_Missense_Mutation_p.L91I|GRIN1_ENST00000371550.4_Missense_Mutation_p.L91I|GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000371559.4_Missense_Mutation_p.L91I|GRIN1_ENST00000350902.5_Missense_Mutation_p.L91I|GRIN1_ENST00000371553.3_Missense_Mutation_p.L91I|GRIN1_ENST00000371555.4_Missense_Mutation_p.L91I|GRIN1_ENST00000315048.3_Missense_Mutation_p.L91I|GRIN1_ENST00000371560.3_Missense_Mutation_p.L91I	p.L91I	NM_007327.3	NP_015566.1	Q05586	NMDZ1_HUMAN	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	2	1368	+	all_cancers(76;0.0926)		91					A6NLK7|A6NLR1|C9K0X1|P35437|Q12867|Q12868|Q5VSF3|Q5VSF4|Q5VSF5|Q5VSF6|Q5VSF7|Q5VSF8|Q9UPF8|Q9UPF9	Missense_Mutation	SNP	ENST00000371561.3	37	c.271C>A	CCDS7031.1	.	.	.	.	.	.	.	.	.	.	C	7.829	0.719511	0.15372	.	.	ENSG00000176884	ENST00000371561;ENST00000315048;ENST00000350902;ENST00000371550;ENST00000371546;ENST00000371555;ENST00000371553;ENST00000371559;ENST00000371560	T;T;T;T;T;T;T;T;T	0.79554	-1.28;-1.28;-1.28;-1.28;-1.28;-1.28;-1.28;-1.28;-1.28	3.37	2.09	0.27110	Extracellular ligand-binding receptor (1);	0.000000	0.64402	D	0.000011	T	0.67126	0.2860	N	0.03948	-0.315	0.47476	D	0.999431	D;B;P;P;P;B	0.54397	0.966;0.226;0.904;0.841;0.922;0.025	P;B;P;P;P;B	0.60473	0.869;0.326;0.802;0.802;0.875;0.186	T	0.61912	-0.6965	10	0.21014	T	0.42	.	3.9803	0.09492	0.0:0.4293:0.0:0.5707	.	91;91;91;91;91;91	Q5VSF4;Q5VSF5;Q05586-2;Q05586-3;Q05586;A2AVK2	.;.;.;.;NMDZ1_HUMAN;.	I	91	ENSP00000360616:L91I;ENSP00000316696:L91I;ENSP00000316915:L91I;ENSP00000360605:L91I;ENSP00000360601:L91I;ENSP00000360610:L91I;ENSP00000360608:L91I;ENSP00000360614:L91I;ENSP00000360615:L91I	ENSP00000316696:L91I	L	+	1	2	GRIN1	139156298	1.000000	0.71417	0.999000	0.59377	0.884000	0.51177	1.862000	0.39448	0.682000	0.31407	0.462000	0.41574	CTA		0.602	GRIN1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055267.3	NM_007327		28	105	1	0	2.80507e-11	1	3.01285e-11	28	105				
ARHGAP39	80728	broad.mit.edu	37	8	145830944	145830944	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A9ZR-01A-11D-A41K-08	TCGA-V1-A9ZR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1161c64b-4a41-4fce-a9d4-73d4f091c044	a78aaabf-765f-422c-80b1-597ef3a0c26d	g.chr8:145830944G>A	ENST00000276826.5	-	1	257	c.56C>T	c.(55-57)tCg>tTg	p.S19L	ARHGAP39_ENST00000540274.1_Missense_Mutation_p.S19L|ARHGAP39_ENST00000377307.2_Missense_Mutation_p.S19L			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	19					axon guidance (GO:0007411)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						TGGAATCCTCGACTCCGGCAG	0.612																																						ENST00000276826.5																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						c.(55-57)tCg>tTg		Rho GTPase activating protein 39							107.0	86.0	93.0					8																	145830944		2203	4300	6503	SO:0001583	missense	80728				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity	g.chr8:145830944G>A		CCDS34971.1	8q24.3	2011-06-29			ENSG00000147799	ENSG00000147799		"""Rho GTPase activating proteins"""	29351	protein-coding gene	gene with protein product	"""RhoGAP93B homolog (Drosophila)"", ""crossGAP homolog (Drosophila)"""	615880				15755809	Standard	XM_005272344		Approved	KIAA1688, Vilse, CrGAP	uc003zds.1	Q9C0H5	OTTHUMG00000165182	ENST00000276826.5:c.56C>T	8.37:g.145830944G>A	ENSP00000276826:p.Ser19Leu					ARHGAP39_ENST00000540274.1_Missense_Mutation_p.S19L|ARHGAP39_ENST00000377307.2_Missense_Mutation_p.S19L	p.S19L			Q9C0H5	RHG39_HUMAN			1	257	-			19					B4E1I1	Missense_Mutation	SNP	ENST00000276826.5	37	c.56C>T		.	.	.	.	.	.	.	.	.	.	G	14.17	2.455653	0.43634	.	.	ENSG00000147799	ENST00000276826;ENST00000377307;ENST00000540274	T;T;T	0.23754	1.89;1.89;1.89	4.89	4.89	0.63831	.	0.959827	0.08500	N	0.936527	T	0.21718	0.0523	N	0.22421	0.69	0.09310	N	1	B;B	0.25743	0.082;0.133	B;B	0.21917	0.016;0.037	T	0.15235	-1.0444	10	0.59425	D	0.04	0.3025	13.5484	0.61717	0.0:0.0:1.0:0.0	.	19;19	Q9C0H5;Q9C0H5-2	RHG39_HUMAN;.	L	19	ENSP00000276826:S19L;ENSP00000366522:S19L;ENSP00000445075:S19L	ENSP00000276826:S19L	S	-	2	0	ARHGAP39	145801752	0.111000	0.22076	0.005000	0.12908	0.012000	0.07955	3.337000	0.52120	2.266000	0.75297	0.561000	0.74099	TCG		0.612	ARHGAP39-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382509.1			23	50	0	0	0	1	0	23	50				
SYNE2	23224	broad.mit.edu	37	14	64520265	64520265	+	Missense_Mutation	SNP	A	A	G	rs377100573		TCGA-V1-A9ZR-01A-11D-A41K-08	TCGA-V1-A9ZR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1161c64b-4a41-4fce-a9d4-73d4f091c044	a78aaabf-765f-422c-80b1-597ef3a0c26d	g.chr14:64520265A>G	ENST00000344113.4	+	48	9846	c.9634A>G	c.(9634-9636)Att>Gtt	p.I3212V	SYNE2_ENST00000358025.3_Missense_Mutation_p.I3212V|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Missense_Mutation_p.I3245V	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3212					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TGTGACTGCTATTGAGAAACA	0.358																																						ENST00000358025.3																			0				NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.(9634-9636)Att>Gtt		spectrin repeat containing, nuclear envelope 2							85.0	82.0	83.0					14																	64520265		1908	4120	6028	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64520265A>G	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.9634A>G	14.37:g.64520265A>G	ENSP00000341781:p.Ile3212Val					SYNE2_ENST00000554584.1_Missense_Mutation_p.I3245V|SYNE2_ENST00000344113.4_Missense_Mutation_p.I3212V|SYNE2_ENST00000357395.3_5'UTR	p.I3212V	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	48	9864	+			3212					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.9634A>G	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	A	8.411	0.844127	0.16963	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.32753	1.44;1.44;1.44	5.52	-7.43	0.01383	.	1.203900	0.06163	N	0.676224	T	0.13457	0.0326	N	0.19112	0.55	0.09310	N	0.999998	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.20306	-1.0279	10	0.24483	T	0.36	.	2.5291	0.04698	0.2959:0.3446:0.2571:0.1025	.	3212;3212	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	V	3212;3212;3245;3245	ENSP00000350719:I3212V;ENSP00000341781:I3212V;ENSP00000452570:I3245V	ENSP00000261678:I3245V	I	+	1	0	SYNE2	63590018	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.501000	0.06398	-1.422000	0.02004	-0.376000	0.06991	ATT		0.358	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		13	41	0	0	0	1	0	13	41				
OTOA	146183	broad.mit.edu	37	16	21737849	21737849	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A9ZR-01A-11D-A41K-08	TCGA-V1-A9ZR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1161c64b-4a41-4fce-a9d4-73d4f091c044	a78aaabf-765f-422c-80b1-597ef3a0c26d	g.chr16:21737849G>A	ENST00000286149.4	+	18	1929	c.1928G>A	c.(1927-1929)cGc>cAc	p.R643H	OTOA_ENST00000388958.3_Missense_Mutation_p.R629H|OTOA_ENST00000388956.4_Missense_Mutation_p.R550H|OTOA_ENST00000388957.3_Missense_Mutation_p.R305H			Q7RTW8	OTOAN_HUMAN	otoancorin	643					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|proteinaceous extracellular matrix (GO:0005578)		p.R629L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		TCCAGGGCCCGCTACCTGGCT	0.562																																						ENST00000388958.3																			1	Substitution - Missense(1)	p.R629L(1)	lung(1)	breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46						c.(1885-1887)cGc>cAc		otoancorin							101.0	104.0	103.0					16																	21737849		2198	4300	6498	SO:0001583	missense	146183				sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix		g.chr16:21737849G>A	AK057335	CCDS10600.2, CCDS32403.1, CCDS53994.1	16p12.2	2009-08-18	2002-07-05		ENSG00000155719	ENSG00000155719			16378	protein-coding gene	gene with protein product	"""cancer/testis antigen 108"""	607038	"""deafness, autosomal recessive 22"""	DFNB22		11972037, 19088187	Standard	NM_170664		Approved	CT108	uc002djh.3	Q7RTW8	OTTHUMG00000090721	ENST00000286149.4:c.1928G>A	16.37:g.21737849G>A	ENSP00000286149:p.Arg643His					OTOA_ENST00000388957.3_Missense_Mutation_p.R305H|OTOA_ENST00000388956.4_Missense_Mutation_p.R550H|OTOA_ENST00000286149.4_Missense_Mutation_p.R643H	p.R629H	NM_144672.3	NP_653273.3	Q7RTW8	OTOAN_HUMAN		GBM - Glioblastoma multiforme(48;0.0414)	18	1887	+			643					A1L3A8|A2VDI0|B3KWU3|E9PF51|Q8NA86|Q96M76	Missense_Mutation	SNP	ENST00000286149.4	37	c.1886G>A		.	.	.	.	.	.	.	.	.	.	g	6.205	0.405986	0.11754	.	.	ENSG00000155719	ENST00000388958;ENST00000286149;ENST00000388956;ENST00000388957;ENST00000338456	T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27	5.06	-3.33	0.04958	.	0.780907	0.11602	N	0.547630	T	0.59473	0.2196	N	0.17474	0.49	0.22489	N	0.999056	B;B;B;B	0.19445	0.016;0.007;0.036;0.009	B;B;B;B	0.11329	0.006;0.004;0.004;0.006	T	0.39840	-0.9594	10	0.41790	T	0.15	-0.8603	11.5984	0.50988	0.6035:0.0:0.3965:0.0	.	643;550;305;629	Q7RTW8;B3KWU3;Q7RTW8-2;E9PF51	OTOAN_HUMAN;.;.;.	H	629;643;550;305;38	ENSP00000373610:R629H;ENSP00000286149:R643H;ENSP00000373608:R550H;ENSP00000373609:R305H	ENSP00000286149:R643H	R	+	2	0	OTOA	21645350	0.933000	0.31639	0.451000	0.26982	0.110000	0.19582	0.290000	0.18975	-0.857000	0.04115	-3.256000	0.00050	CGC		0.562	OTOA-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000430021.1			21	81	0	0	0	1	0	21	81				
RYR1	6261	broad.mit.edu	37	19	38956916	38956916	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A9ZR-01A-11D-A41K-08	TCGA-V1-A9ZR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1161c64b-4a41-4fce-a9d4-73d4f091c044	a78aaabf-765f-422c-80b1-597ef3a0c26d	g.chr19:38956916G>A	ENST00000359596.3	+	24	3056	c.3056G>A	c.(3055-3057)cGg>cAg	p.R1019Q	RYR1_ENST00000355481.4_Missense_Mutation_p.R1019Q|RYR1_ENST00000360985.3_Missense_Mutation_p.R1019Q			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1019	6 X approximate repeats.|B30.2/SPRY 2. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	CGAAACCCTCGGCTGGTGCCC	0.672																																						ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(3055-3057)cGg>cAg		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						39.0	37.0	38.0					19																	38956916		2199	4298	6497	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38956916G>A	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.3056G>A	19.37:g.38956916G>A	ENSP00000352608:p.Arg1019Gln					RYR1_ENST00000360985.3_Missense_Mutation_p.R1019Q|RYR1_ENST00000359596.3_Missense_Mutation_p.R1019Q	p.R1019Q	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		24	3187	+	all_cancers(60;7.91e-06)		1019			6 X approximate repeats.|B30.2/SPRY 2.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.3056G>A	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	g	15.28	2.785996	0.49997	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.91295	-2.82;-2.82;-2.82	3.5	3.5	0.40072	B30.2/SPRY domain (1);Ryanodine receptor Ryr (1);	0.000000	0.64402	U	0.000002	D	0.93976	0.8071	M	0.75085	2.285	0.53005	D	0.999962	D;D	0.89917	1.0;0.994	D;P	0.66979	0.948;0.863	D	0.93015	0.6435	10	0.31617	T	0.26	.	15.24	0.73461	0.0:0.0:1.0:0.0	.	1019;1019	P21817-2;P21817	.;RYR1_HUMAN	Q	1019	ENSP00000352608:R1019Q;ENSP00000347667:R1019Q;ENSP00000354254:R1019Q	ENSP00000347667:R1019Q	R	+	2	0	RYR1	43648756	1.000000	0.71417	0.936000	0.37596	0.231000	0.25187	9.437000	0.97535	1.988000	0.58038	0.444000	0.29173	CGG		0.672	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			3	15	0	0	0	1	0	3	15				
ETV3L	440695	broad.mit.edu	37	1	157068525	157068525	+	Silent	SNP	C	C	T	rs550855165		TCGA-V1-A9ZR-01A-11D-A41K-08	TCGA-V1-A9ZR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1161c64b-4a41-4fce-a9d4-73d4f091c044	a78aaabf-765f-422c-80b1-597ef3a0c26d	g.chr1:157068525C>T	ENST00000454449.2	-	3	743	c.459G>A	c.(457-459)gcG>gcA	p.A153A		NM_001004341.2	NP_001004341.1	Q6ZN32	ETV3L_HUMAN	ets variant 3-like	153					cell differentiation (GO:0030154)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Hepatocellular(266;0.158)	Prostate(1639;0.184)				CGGGCACCAGCGCTGGCCGAC	0.662																																						ENST00000454449.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24						c.(457-459)gcG>gcA		ets variant 3-like							35.0	39.0	37.0					1																	157068525		2202	4300	6502	SO:0001819	synonymous_variant	440695					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:157068525C>T	AK131392	CCDS30893.1	1q23.1	2013-09-24	2008-09-12		ENSG00000253831	ENSG00000253831			33834	protein-coding gene	gene with protein product			"""ets variant gene 3-like"""				Standard	NM_001004341		Approved	FLJ16478	uc001fqq.2	Q6ZN32	OTTHUMG00000041325	ENST00000454449.2:c.459G>A	1.37:g.157068525C>T							p.A153A	NM_001004341.2	NP_001004341.1	Q6ZN32	ETV3L_HUMAN			3	743	-	Hepatocellular(266;0.158)	Prostate(1639;0.184)	153						Silent	SNP	ENST00000454449.2	37	c.459G>A	CCDS30893.1																																																																																				0.662	ETV3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099024.2	NM_001004341		10	45	0	0	0	1	0	10	45				
SETD2	29072	broad.mit.edu	37	3	47144908	47144908	+	Missense_Mutation	SNP	T	T	C			TCGA-V1-A9ZR-01A-11D-A41K-08	TCGA-V1-A9ZR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1161c64b-4a41-4fce-a9d4-73d4f091c044	a78aaabf-765f-422c-80b1-597ef3a0c26d	g.chr3:47144908T>C	ENST00000409792.3	-	7	4887	c.4845A>G	c.(4843-4845)atA>atG	p.I1615M		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1615	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		GAGTGGCATCTATTATCTGGG	0.328			"""N, F, S, Mis"""		clear cell renal carcinoma																																	ENST00000409792.3				Rec	yes		3	3p21.31	29072	"""N, F, S, Mis"""	SET domain containing 2			E			clear cell renal carcinoma		0				breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141						c.(4843-4845)atA>atG		SET domain containing 2							135.0	128.0	131.0					3																	47144908		2203	4300	6503	SO:0001583	missense	29072				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	g.chr3:47144908T>C	AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.4845A>G	3.37:g.47144908T>C	ENSP00000386759:p.Ile1615Met						p.I1615M	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	7	4887	-		Acute lymphoblastic leukemia(5;0.0169)	1615			SET.		O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	ENST00000409792.3	37	c.4845A>G	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	T	16.95	3.263975	0.59431	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792	D	0.84370	-1.84	5.83	3.24	0.37175	SET domain (3);	0.000000	0.64402	D	0.000010	D	0.92632	0.7659	M	0.93016	3.37	0.58432	D	0.999999	D;D	0.89917	0.999;1.0	D;D	0.91635	0.997;0.999	D	0.91947	0.5568	10	0.87932	D	0	.	7.6746	0.28478	0.1281:0.0:0.2582:0.6137	.	1615;1615	F2Z317;Q9BYW2	.;SETD2_HUMAN	M	1615	ENSP00000386759:I1615M	ENSP00000386759:I1615M	I	-	3	3	SETD2	47119912	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	0.825000	0.27393	0.989000	0.38761	0.528000	0.53228	ATA		0.328	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		3	95	0	0	0	1	0	3	95				
BPIFB2	80341	broad.mit.edu	37	20	31607482	31607482	+	Missense_Mutation	SNP	C	C	T	rs144321606	byFrequency	TCGA-V1-A9ZR-01A-11D-A41K-08	TCGA-V1-A9ZR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1161c64b-4a41-4fce-a9d4-73d4f091c044	a78aaabf-765f-422c-80b1-597ef3a0c26d	g.chr20:31607482C>T	ENST00000170150.3	+	11	1201	c.1006C>T	c.(1006-1008)Cgg>Tgg	p.R336W		NM_025227.1	NP_079503.1	Q8N4F0	BPIB2_HUMAN	BPI fold containing family B, member 2	336						extracellular vesicular exosome (GO:0070062)	lipid binding (GO:0008289)										CGCCACCCTGCGGCTGCAGCC	0.657																																						ENST00000170150.3																			0											c.(1006-1008)Cgg>Tgg		BPI fold containing family B, member 2							43.0	41.0	42.0					20																	31607482		2203	4300	6503	SO:0001583	missense	80341					extracellular region	lipid binding	g.chr20:31607482C>T	AF465765	CCDS13210.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000078898	ENSG00000078898		"""BPI fold containing"""	16177	protein-coding gene	gene with protein product		614108	"""bactericidal/permeability-increasing protein-like 1"""	C20orf184, BPIL1		12185532, 21787333	Standard	NM_025227		Approved	dJ726C3.2, LPLUNC2	uc002wyj.4	Q8N4F0	OTTHUMG00000032232	ENST00000170150.3:c.1006C>T	20.37:g.31607482C>T	ENSP00000170150:p.Arg336Trp						p.R336W	NM_025227.1	NP_079503.1	Q8N4F0	BPIL1_HUMAN			11	1201	+			336					Q6UWN3|Q6ZME0|Q8NFQ7	Missense_Mutation	SNP	ENST00000170150.3	37	c.1006C>T	CCDS13210.1	.	.	.	.	.	.	.	.	.	.	C	7.345	0.621700	0.14193	.	.	ENSG00000078898	ENST00000170150	T	0.07021	3.23	4.97	0.471	0.16752	.	1.343280	0.04904	N	0.451930	T	0.05135	0.0137	N	0.08118	0	0.09310	N	1	B	0.13145	0.007	B	0.08055	0.003	T	0.41052	-0.9530	10	0.59425	D	0.04	-0.0145	6.5945	0.22666	0.4288:0.4827:0.0:0.0885	.	336	Q8N4F0	BPIB2_HUMAN	W	336	ENSP00000170150:R336W	ENSP00000170150:R336W	R	+	1	2	BPIFB2	31071143	0.000000	0.05858	0.001000	0.08648	0.275000	0.26752	-0.185000	0.09684	0.166000	0.19597	0.555000	0.69702	CGG		0.657	BPIFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078652.2	NM_025227		6	8	0	0	0	1	0	6	8				
KATNAL2	83473	broad.mit.edu	37	18	44579365	44579365	+	Silent	SNP	T	T	C			TCGA-V1-A9ZR-01A-11D-A41K-08	TCGA-V1-A9ZR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1161c64b-4a41-4fce-a9d4-73d4f091c044	a78aaabf-765f-422c-80b1-597ef3a0c26d	g.chr18:44579365T>C	ENST00000245121.5	+	2	215	c.21T>C	c.(19-21)taT>taC	p.Y7Y	KATNAL2_ENST00000356157.7_Silent_p.Y79Y|KATNAL2_ENST00000592005.1_Intron	NM_031303.2	NP_112593.2			katanin p60 subunit A-like 2											central_nervous_system(2)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	27						AGAGTTATTATTTTGTAAAAT	0.338																																						ENST00000245121.5																			0				central_nervous_system(2)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	27						c.(19-21)taT>taC		katanin p60 subunit A-like 2							108.0	114.0	112.0					18																	44579365		2202	4300	6502	SO:0001819	synonymous_variant	83473					cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity	g.chr18:44579365T>C	BC034999	CCDS32828.1	18q21.1	2010-04-21			ENSG00000167216	ENSG00000167216		"""ATPases / AAA-type"""	25387	protein-coding gene	gene with protein product		614697				12477932	Standard	NM_031303		Approved	MGC33211, DKFZP667C165	uc002lco.3	Q8IYT4		ENST00000245121.5:c.21T>C	18.37:g.44579365T>C						KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Silent_p.Y79Y	p.Y7Y	NM_031303.2	NP_112593.2	Q8IYT4	KATL2_HUMAN			2	215	+			79						Silent	SNP	ENST00000245121.5	37	c.21T>C	CCDS32828.1																																																																																				0.338	KATNAL2-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446138.2	NM_031303		35	121	0	0	0	1	0	35	121				
LCE1E	353135	broad.mit.edu	37	1	152760036	152760036	+	Silent	SNP	T	T	C			TCGA-V1-A9ZR-01A-11D-A41K-08	TCGA-V1-A9ZR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1161c64b-4a41-4fce-a9d4-73d4f091c044	a78aaabf-765f-422c-80b1-597ef3a0c26d	g.chr1:152760036T>C	ENST00000368770.3	+	2	314	c.261T>C	c.(259-261)cgT>cgC	p.R87R	LCE1E_ENST00000368771.1_Silent_p.R87R	NM_178353.1	NP_848130.1	Q5T753	LCE1E_HUMAN	late cornified envelope 1E	87	Cys-rich.				keratinization (GO:0031424)					lung(5)|stomach(1)	6	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGTCCCACCGTCACAGACCCC	0.692																																						ENST00000368770.3																			0				lung(5)|stomach(1)	6						c.(259-261)cgT>cgC		late cornified envelope 1E							36.0	47.0	43.0					1																	152760036		2198	4299	6497	SO:0001819	synonymous_variant	353135				keratinization			g.chr1:152760036T>C	BC038391	CCDS1024.1	1q21.3	2008-02-05			ENSG00000186226	ENSG00000186226		"""Late cornified envelopes"""	29466	protein-coding gene	gene with protein product		612607				11698679	Standard	NM_178353		Approved	LEP5	uc001fan.3	Q5T753	OTTHUMG00000012405	ENST00000368770.3:c.261T>C	1.37:g.152760036T>C						LCE1E_ENST00000368771.1_Silent_p.R87R	p.R87R	NM_178353.1	NP_848130.1	Q5T753	LCE1E_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	314	+	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		87			Cys-rich.		D3DV30	Silent	SNP	ENST00000368770.3	37	c.261T>C	CCDS1024.1																																																																																				0.692	LCE1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034525.1	NM_178353		16	47	0	0	0	1	0	16	47				
RIBC1	158787	broad.mit.edu	37	X	53455599	53455599	+	Intron	SNP	T	T	G			TCGA-V1-A9ZR-01A-11D-A41K-08	TCGA-V1-A9ZR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1161c64b-4a41-4fce-a9d4-73d4f091c044	a78aaabf-765f-422c-80b1-597ef3a0c26d	g.chrX:53455599T>G	ENST00000375327.3	+	5	697				RIBC1_ENST00000414955.2_Intron|RIBC1_ENST00000457095.1_Missense_Mutation_p.S190A|RIBC1_ENST00000490702.1_Intron	NM_001031745.2	NP_001026915.1	Q8N443	RIBC1_HUMAN	RIB43A domain with coiled-coils 1											lung(2)	2						CCCTCCAGACTCAGAGACCTG	0.552																																						ENST00000457095.1																			0				lung(2)	2						c.(568-570)Tca>Gca		RIB43A domain with coiled-coils 1							35.0	34.0	35.0					X																	53455599		2203	4299	6502	SO:0001627	intron_variant	158787							g.chrX:53455599T>G	AK057345	CCDS14353.1, CCDS35299.1, CCDS59168.1	Xp11.23	2006-04-12			ENSG00000158423	ENSG00000158423			26537	protein-coding gene	gene with protein product							Standard	NM_144968		Approved	FLJ32783	uc004dsk.4	Q8N443	OTTHUMG00000021615	ENST00000375327.3:c.544+24T>G	X.37:g.53455599T>G						RIBC1_ENST00000490702.1_Intron|RIBC1_ENST00000414955.2_Intron|RIBC1_ENST00000375327.3_Intron	p.S190A	NM_144968.2	NP_659405.1	Q8N443	RIBC1_HUMAN			5	772	+			0					B4E297|E9PDU2|Q5H931|Q96A80	Missense_Mutation	SNP	ENST00000375327.3	37	c.568T>G	CCDS35299.1	.	.	.	.	.	.	.	.	.	.	T	11.05	1.524436	0.27299	.	.	ENSG00000158423	ENST00000457095	.	.	.	3.57	1.14	0.20703	.	.	.	.	.	T	0.15955	0.0384	N	0.08118	0	0.09310	N	1	B	0.20988	0.05	B	0.22601	0.04	T	0.30650	-0.9971	7	.	.	.	.	4.878	0.13665	0.0:0.2693:0.0:0.7307	.	190	Q8N443-2	.	A	190	.	.	S	+	1	0	RIBC1	53472324	0.003000	0.15002	0.002000	0.10522	0.001000	0.01503	0.757000	0.26433	0.137000	0.18759	-0.376000	0.06991	TCA		0.552	RIBC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056762.1	NM_144968		3	8	0	0	0	1	0	3	8				
C1ORF220	400798	broad.mit.edu	37	1	178514690	178514690	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A9ZR-01A-11D-A41K-08	TCGA-V1-A9ZR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1161c64b-4a41-4fce-a9d4-73d4f091c044	a78aaabf-765f-422c-80b1-597ef3a0c26d	g.chr1:178514690G>A	ENST00000367636.4	+	2	414	c.76G>A	c.(76-78)Ggc>Agc	p.G26S	C1orf220_ENST00000319387.2_3'UTR|C1orf220_ENST00000521244.1_3'UTR																							tgaaagacttggccccaagtc	0.507																																						ENST00000367636.4																			0											c.(76-78)Ggc>Agc									72.0	62.0	65.0					1																	178514690		2203	4300	6503	SO:0001583	missense	0							g.chr1:178514690G>A																												ENST00000367636.4:c.76G>A	1.37:g.178514690G>A	ENSP00000356608:p.Gly26Ser					C1orf220_ENST00000521244.1_3'UTR|C1orf220_ENST00000319387.2_3'UTR	p.G26S							2	414	+									Missense_Mutation	SNP	ENST00000367636.4	37	c.76G>A		.	.	.	.	.	.	.	.	.	.	G	8.358	0.832381	0.16820	.	.	ENSG00000184909	ENST00000367636	T	0.37411	1.2	3.58	1.71	0.24356	.	.	.	.	.	T	0.28200	0.0696	.	.	.	0.09310	N	1	P	0.50943	0.94	B	0.43809	0.432	T	0.09662	-1.0664	7	.	.	.	.	5.7604	0.18196	0.2424:0.0:0.7576:0.0	.	26	Q5T0J3	CA220_HUMAN	S	26	ENSP00000356608:G26S	.	G	+	1	0	AL513013.1	176781313	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	0.129000	0.15830	0.533000	0.28675	0.456000	0.33151	GGC		0.507	C1ORF220-201	NOVEL	basic|appris_principal	protein_coding	protein_coding				3	8	0	0	0	1	0	3	8				
UGT2A3	79799	broad.mit.edu	37	4	69798438	69798438	+	Missense_Mutation	SNP	T	T	A			TCGA-V1-A9ZR-01A-11D-A41K-08	TCGA-V1-A9ZR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1161c64b-4a41-4fce-a9d4-73d4f091c044	a78aaabf-765f-422c-80b1-597ef3a0c26d	g.chr4:69798438T>A	ENST00000251566.4	-	3	934	c.904A>T	c.(904-906)Att>Ttt	p.I302F	UGT2A3_ENST00000420231.2_Missense_Mutation_p.I13F	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	302					cellular glucuronidation (GO:0052695)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AACACCACAATACCATCTTCC	0.363																																						ENST00000251566.4																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(904-906)Att>Ttt		UDP glucuronosyltransferase 2 family, polypeptide A3							137.0	137.0	137.0					4																	69798438		2203	4300	6503	SO:0001583	missense	79799					integral to membrane	glucuronosyltransferase activity	g.chr4:69798438T>A		CCDS3525.1	4q13.2	2010-12-14			ENSG00000135220	ENSG00000135220		"""UDP glucuronosyltransferases"""	28528	protein-coding gene	gene with protein product							Standard	NM_024743		Approved	FLJ21934	uc003hef.2	Q6UWM9	OTTHUMG00000129408	ENST00000251566.4:c.904A>T	4.37:g.69798438T>A	ENSP00000251566:p.Ile302Phe					UGT2A3_ENST00000420231.2_Missense_Mutation_p.I13F	p.I302F	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN			3	934	-			302					Q9H6S4	Missense_Mutation	SNP	ENST00000251566.4	37	c.904A>T	CCDS3525.1	.	.	.	.	.	.	.	.	.	.	T	9.566	1.119751	0.20877	.	.	ENSG00000135220	ENST00000251566;ENST00000420231	T;T	0.65549	-0.16;-0.16	2.08	-3.03	0.05429	.	0.128596	0.50627	D	0.000103	T	0.60170	0.2248	L	0.41124	1.26	0.24658	N	0.993485	D	0.60575	0.988	D	0.63703	0.917	T	0.56498	-0.7969	10	0.40728	T	0.16	.	6.5087	0.22210	0.0:0.4294:0.0:0.5706	.	302	Q6UWM9	UD2A3_HUMAN	F	302;13	ENSP00000251566:I302F;ENSP00000440115:I13F	ENSP00000251566:I302F	I	-	1	0	UGT2A3	69833027	0.003000	0.15002	0.024000	0.17045	0.272000	0.26649	-0.698000	0.05092	-0.852000	0.04141	-0.441000	0.05720	ATT		0.363	UGT2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251564.1	NM_024743		44	122	0	0	0	1	0	44	122				
LOC101927209	101927209	broad.mit.edu	37	1	142713944	142713944	+	lincRNA	SNP	C	C	T	rs199960649		TCGA-V1-A9ZR-01A-11D-A41K-08	TCGA-V1-A9ZR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1161c64b-4a41-4fce-a9d4-73d4f091c044	a78aaabf-765f-422c-80b1-597ef3a0c26d	g.chr1:142713944C>T	ENST00000610091.1	-	0	1714																											TGATTACCTCCGAAGTTAAAG	0.308																																						ENST00000369381.2																			0																																																			0							g.chr1:142713944C>T																													1.37:g.142713944C>T														0	661	-									RNA	SNP	ENST00000610091.1	37																																																																																						0.308	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			3	22	0	0	0	1	0	3	22				
ZNF205	7755	broad.mit.edu	37	16	3170290	3170290	+	Silent	SNP	G	G	A			TCGA-V1-A9ZR-01A-11D-A41K-08	TCGA-V1-A9ZR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1161c64b-4a41-4fce-a9d4-73d4f091c044	a78aaabf-765f-422c-80b1-597ef3a0c26d	g.chr16:3170290G>A	ENST00000382192.3	+	7	1834	c.1629G>A	c.(1627-1629)gcG>gcA	p.A543A	RP11-473M20.14_ENST00000576490.1_RNA|RP11-473M20.14_ENST00000575139.1_RNA|ZNF205_ENST00000219091.4_Silent_p.A543A	NM_001278158.1|NM_003456.2	NP_001265087.1|NP_003447.2	O95201	ZN205_HUMAN	zinc finger protein 205	543					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of hydrogen peroxide biosynthetic process (GO:0010729)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20						cggcggcggcgggggcTCTGG	0.716																																						ENST00000382192.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20						c.(1627-1629)gcG>gcA		zinc finger protein 205							5.0	6.0	6.0					16																	3170290		1856	3741	5597	SO:0001819	synonymous_variant	7755				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr16:3170290G>A	AF060865	CCDS10494.2	16p13.3	2013-01-08			ENSG00000122386	ENSG00000122386		"""Zinc fingers, C2H2-type"", ""-"""	12996	protein-coding gene	gene with protein product		603436		ZNF210		9787081	Standard	NM_003456		Approved	Zfp13	uc002cub.3	O95201	OTTHUMG00000148676	ENST00000382192.3:c.1629G>A	16.37:g.3170290G>A						RP11-473M20.14_ENST00000576490.1_RNA|RP11-473M20.14_ENST00000575139.1_RNA|ZNF205_ENST00000219091.4_Silent_p.A543A	p.A543A	NM_001278158.1|NM_003456.2	NP_001265087.1|NP_003447.2	O95201	ZN205_HUMAN			7	1834	+			543					A8MZK0|D3DUB4|Q9BU95	Silent	SNP	ENST00000382192.3	37	c.1629G>A	CCDS10494.2																																																																																				0.716	ZNF205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309057.1	NM_003456		6	15	0	0	0	1	0	6	15				
MUC6	4588	broad.mit.edu	37	11	1018412	1018412	+	Silent	SNP	G	G	T			TCGA-V1-A9ZR-01A-11D-A41K-08	TCGA-V1-A9ZR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1161c64b-4a41-4fce-a9d4-73d4f091c044	a78aaabf-765f-422c-80b1-597ef3a0c26d	g.chr11:1018412G>T	ENST00000421673.2	-	31	4439	c.4389C>A	c.(4387-4389)atC>atA	p.I1463I		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1463	Pro-rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGGTAGGGGTGATGACTGTGT	0.572																																						ENST00000421673.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(4387-4389)atC>atA		mucin 6, oligomeric mucus/gel-forming							343.0	330.0	334.0					11																	1018412		2198	4288	6486	SO:0001819	synonymous_variant	4588				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	g.chr11:1018412G>T	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.4389C>A	11.37:g.1018412G>T							p.I1463I	NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	31	4439	-		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	1463			Pro-rich.|Thr-rich.		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Silent	SNP	ENST00000421673.2	37	c.4389C>A	CCDS44513.1																																																																																				0.572	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		5	339	1	0	0.0477658	1	0.0494717	5	339				
GEMIN2	8487	broad.mit.edu	37	14	39597482	39597482	+	Splice_Site	SNP	A	A	T			TCGA-V1-A9ZR-01A-11D-A41K-08	TCGA-V1-A9ZR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1161c64b-4a41-4fce-a9d4-73d4f091c044	a78aaabf-765f-422c-80b1-597ef3a0c26d	g.chr14:39597482A>T	ENST00000308317.6	+	7	647		c.e7-1		GEMIN2_ENST00000396249.2_Splice_Site|GEMIN2_ENST00000250379.8_Splice_Site	NM_003616.2	NP_003607.1	O14893	GEMI2_HUMAN	gem (nuclear organelle) associated protein 2						gene expression (GO:0010467)|mRNA processing (GO:0006397)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)|spliceosomal complex (GO:0005681)											TTTTTTTTTTAGGCAACAGTA	0.308																																						ENST00000308317.6																			0											c.e7-1		gem (nuclear organelle) associated protein 2							66.0	71.0	69.0					14																	39597482		2203	4300	6503	SO:0001630	splice_region_variant	8487				ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly	Cajal body|cytosol|spliceosomal complex	protein binding	g.chr14:39597482A>T	AF027150	CCDS9669.1, CCDS32068.1, CCDS41946.1	14q21.1	2011-08-04	2011-08-04	2011-08-04	ENSG00000092208	ENSG00000092208			10884	protein-coding gene	gene with protein product		602595	"""survival of motor neuron protein interacting protein 1"""	SIP1		9323130, 9323129, 11121410	Standard	NM_003616		Approved		uc001wuq.3	O14893	OTTHUMG00000028816	ENST00000308317.6:c.565-1A>T	14.37:g.39597482A>T						GEMIN2_ENST00000250379.8_Splice_Site|GEMIN2_ENST00000396249.2_Splice_Site		NM_003616.2	NP_003607.1	O14893	GEMI2_HUMAN			7	647	+								B2R9W8|Q2M3B3|Q9H4F5|Q9NS77|Q9NS78|Q9NS79	Splice_Site	SNP	ENST00000308317.6	37		CCDS9669.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.100661	0.76983	.	.	ENSG00000092208	ENST00000308317;ENST00000396249;ENST00000250379;ENST00000527381	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3281	0.66534	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GEMIN2	38667233	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	6.625000	0.74248	2.330000	0.79161	0.528000	0.53228	.		0.308	GEMIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276730.2		Intron	4	50	0	0	0	1	0	4	50				
CHSY3	337876	broad.mit.edu	37	5	129520132	129520132	+	Missense_Mutation	SNP	A	A	C			TCGA-V1-A9ZR-01A-11D-A41K-08	TCGA-V1-A9ZR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1161c64b-4a41-4fce-a9d4-73d4f091c044	a78aaabf-765f-422c-80b1-597ef3a0c26d	g.chr5:129520132A>C	ENST00000305031.4	+	3	1655	c.1297A>C	c.(1297-1299)Aag>Cag	p.K433Q	CHSY3_ENST00000507545.1_3'UTR	NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	433					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		CCTGATGAGCAAGCTCAGTAA	0.488																																						ENST00000305031.4																			0				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28						c.(1297-1299)Aag>Cag		chondroitin sulfate synthase 3							73.0	67.0	69.0					5																	129520132		2203	4300	6503	SO:0001583	missense	337876					Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	g.chr5:129520132A>C	AB086062	CCDS34223.1	5q13	2013-02-19			ENSG00000198108	ENSG00000198108	2.4.1.175, 2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	24293	protein-coding gene	gene with protein product		609963				12907687	Standard	XM_005271982		Approved	CSS3, CHSY-2	uc003kvd.3	Q70JA7	OTTHUMG00000163043	ENST00000305031.4:c.1297A>C	5.37:g.129520132A>C	ENSP00000302629:p.Lys433Gln					CHSY3_ENST00000507545.1_3'UTR	p.K433Q	NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)	3	1655	+		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	433					B2RP97|Q76L22|Q86Y52	Missense_Mutation	SNP	ENST00000305031.4	37	c.1297A>C	CCDS34223.1	.	.	.	.	.	.	.	.	.	.	A	14.01	2.408939	0.42715	.	.	ENSG00000198108	ENST00000305031	T	0.16457	2.34	4.5	4.5	0.54988	.	0.000000	0.64402	D	0.000011	T	0.13415	0.0325	N	0.19112	0.55	0.42876	D	0.99415	B	0.26708	0.157	B	0.33568	0.166	T	0.15838	-1.0423	9	.	.	.	-2.7427	14.8652	0.70409	1.0:0.0:0.0:0.0	.	433	Q70JA7	CHSS3_HUMAN	Q	433	ENSP00000302629:K433Q	.	K	+	1	0	CHSY3	129548031	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	4.289000	0.59013	2.243000	0.73865	0.528000	0.53228	AAG		0.488	CHSY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371453.1	NM_175856		7	53	0	0	0	1	0	7	53				
MALAT1	378938	broad.mit.edu	37	11	65270191	65270191	+	lincRNA	SNP	A	A	C			TCGA-V1-A9ZR-01A-11D-A41K-08	TCGA-V1-A9ZR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1161c64b-4a41-4fce-a9d4-73d4f091c044	a78aaabf-765f-422c-80b1-597ef3a0c26d	g.chr11:65270191A>C	ENST00000534336.1	+	0	4959					NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		TCCTTGGTGAATTGATAAGTA	0.363																																						ENST00000534336.1																			0																				37.0	37.0	37.0					11																	65270191		874	1988	2862			0							g.chr11:65270191A>C	AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65270191A>C								NR_002819.2						0	4959	+									RNA	SNP	ENST00000534336.1	37																																																																																						0.363	MALAT1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000389143.1	NR_002819		4	15	0	0	0	1	0	4	15				
MST1L	11223	broad.mit.edu	37	1	17083652	17083652	+	RNA	SNP	C	C	T	rs113710576		TCGA-V1-A9ZR-01A-11D-A41K-08	TCGA-V1-A9ZR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1161c64b-4a41-4fce-a9d4-73d4f091c044	a78aaabf-765f-422c-80b1-597ef3a0c26d	g.chr1:17083652C>T	ENST00000455405.2	-	0	936							Q2TV78	MST1L_HUMAN	macrophage stimulating 1-like							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)										aaatctcaaccttgagtacaa	0.388																																						ENST00000455405.2																			0																																																			0							g.chr1:17083652C>T	U28055, AF083416		1p36.33	2013-03-27	2012-11-09	2012-11-09	ENSG00000186715	ENSG00000186715			7390	other	unknown			"""macrophage stimulating, pseudogene 7"", ""macrophage stimulating, pseudogene 9"", ""macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9"""	MSTP7, MSTP9, MST1P9		10728827	Standard	NM_001271733		Approved	D1F15S1A, MSPL7, MSPL-7	uc010ock.3	Q2TV78	OTTHUMG00000002578		1.37:g.17083652C>T														0	936	-								B7WPB1|Q13209	RNA	SNP	ENST00000455405.2	37																																																																																						0.388	MST1L-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000400328.1	NM_001271733		10	29	0	0	0	1	0	10	29				
PUM1	9698	broad.mit.edu	37	1	31423093	31423093	+	Missense_Mutation	SNP	G	G	C			TCGA-V1-A9ZR-01A-11D-A41K-08	TCGA-V1-A9ZR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1161c64b-4a41-4fce-a9d4-73d4f091c044	a78aaabf-765f-422c-80b1-597ef3a0c26d	g.chr1:31423093G>C	ENST00000257075.5	-	17	2830	c.2737C>G	c.(2737-2739)Cag>Gag	p.Q913E	PUM1_ENST00000373742.2_Missense_Mutation_p.Q854E|SNORD103B_ENST00000365237.1_RNA|PUM1_ENST00000423018.2_Missense_Mutation_p.Q769E|PUM1_ENST00000426105.2_Missense_Mutation_p.Q913E|PUM1_ENST00000373747.3_Missense_Mutation_p.Q914E|PUM1_ENST00000373741.4_Missense_Mutation_p.Q949E|PUM1_ENST00000424085.2_Missense_Mutation_p.Q671E|PUM1_ENST00000440538.2_Missense_Mutation_p.Q887E	NM_014676.2	NP_055491.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	913	PUM-HD. {ECO:0000255|PROSITE- ProRule:PRU00318}.				membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		GCCAGCTTCTGTTCAAGACTG	0.428																																						ENST00000373747.3																			0				breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(2740-2742)Cag>Gag		pumilio RNA-binding family member 1							88.0	83.0	85.0					1																	31423093		2203	4300	6503	SO:0001583	missense	9698				cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding	g.chr1:31423093G>C	AF315592	CCDS338.1, CCDS44099.1	1p35.2	2013-09-02	2013-09-02		ENSG00000134644	ENSG00000134644			14957	protein-coding gene	gene with protein product		607204	"""pumilio (Drosophila) homolog 1"", ""pumilio homolog 1 (Drosophila)"""				Standard	NM_001020658		Approved	PUMH1, KIAA0099	uc001bsh.1	Q14671	OTTHUMG00000003795	ENST00000257075.5:c.2737C>G	1.37:g.31423093G>C	ENSP00000257075:p.Gln913Glu					PUM1_ENST00000373742.2_Missense_Mutation_p.Q854E|PUM1_ENST00000440538.2_Missense_Mutation_p.Q887E|PUM1_ENST00000257075.5_Missense_Mutation_p.Q913E|PUM1_ENST00000426105.2_Missense_Mutation_p.Q913E|PUM1_ENST00000424085.2_Missense_Mutation_p.Q671E|PUM1_ENST00000423018.2_Missense_Mutation_p.Q769E|PUM1_ENST00000373741.4_Missense_Mutation_p.Q949E	p.Q914E	NM_001020658.1	NP_001018494.1	Q14671	PUM1_HUMAN		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)	17	2839	-		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)	913			PUM-HD.		A8K6W4|B4DG92|D3DPN3|E9PCJ0|Q53HH5|Q5VXY7|Q9HAN1	Missense_Mutation	SNP	ENST00000257075.5	37	c.2740C>G	CCDS338.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	26.8|26.8|26.8	4.769787|4.769787|4.769787	0.90020|0.90020|0.90020	.|.|.	.|.|.	ENSG00000134644|ENSG00000134644|ENSG00000134644	ENST00000525997|ENST00000424085;ENST00000257075;ENST00000373747;ENST00000373749;ENST00000426105;ENST00000440538;ENST00000373741;ENST00000423018;ENST00000373742;ENST00000529846|ENST00000525843;ENST00000498419	.|T;T;T;T;T;T;T;T;T|.	.|0.15952|.	.|2.38;2.38;2.38;2.38;2.38;2.38;2.38;2.38;2.38|.	5.26|5.26|5.26	5.26|5.26|5.26	0.73747|0.73747|0.73747	.|Armadillo-like helical (1);Armadillo-type fold (1);|.	.|0.000000|.	.|0.85682|.	.|D|.	.|0.000000|.	D|D|D	0.82309|0.82309|0.82309	0.5009|0.5009|0.5009	M|M|M	0.83483|0.83483|0.83483	2.645|2.645|2.645	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|D;D;P;D;D;P;D;D|.	.|0.89917|.	.|0.999;1.0;0.71;0.988;0.998;0.909;0.999;0.999|.	.|D;D;B;P;D;P;D;D|.	.|0.78314|.	.|0.991;0.991;0.323;0.759;0.986;0.522;0.991;0.991|.	T|T|T	0.83054|0.83054|0.83054	-0.0151|-0.0151|-0.0151	5|10|5	.|0.66056|.	.|D|.	.|0.02|.	-4.9243|-4.9243|-4.9243	19.0759|19.0759|19.0759	0.93161|0.93161|0.93161	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	.|854;769;949;887;913;913;914;913|.	.|B4DG92;E7EWT3;Q5T1Z8;Q14671-2;Q14671;E9PCJ0;Q5T1Z4;Q53HH5|.	.|.;.;.;.;PUM1_HUMAN;.;.;.|.	K|E|R	59|671;913;914;651;913;887;949;769;854;64|851;624	.|ENSP00000400141:Q671E;ENSP00000257075:Q913E;ENSP00000362852:Q914E;ENSP00000391723:Q913E;ENSP00000401777:Q887E;ENSP00000362846:Q949E;ENSP00000399440:Q769E;ENSP00000362847:Q854E;ENSP00000431213:Q64E|.	.|ENSP00000257075:Q913E|.	N|Q|T	-|-|-	3|1|2	2|0|0	PUM1|PUM1|PUM1	31195680|31195680|31195680	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.998000|0.998000|0.998000	0.95712|0.95712|0.95712	9.657000|9.657000|9.657000	0.98554|0.98554|0.98554	2.739000|2.739000|2.739000	0.93911|0.93911|0.93911	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	AAC|CAG|ACA		0.428	PUM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000010671.1			8	35	0	0	0	1	0	8	35				
DAPP1	27071	broad.mit.edu	37	4	100756895	100756895	+	Missense_Mutation	SNP	T	T	A			TCGA-V1-A9ZR-01A-11D-A41K-08	TCGA-V1-A9ZR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1161c64b-4a41-4fce-a9d4-73d4f091c044	a78aaabf-765f-422c-80b1-597ef3a0c26d	g.chr4:100756895T>A	ENST00000512369.1	+	2	285	c.217T>A	c.(217-219)Tct>Act	p.S73T	DAPP1_ENST00000296414.7_Missense_Mutation_p.S73T	NM_014395.2	NP_055210.2	Q9UN19	DAPP1_HUMAN	dual adaptor of phosphotyrosine and 3-phosphoinositides	73	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phospholipid binding (GO:0005543)			endometrium(1)|kidney(1)|lung(4)	6				OV - Ovarian serous cystadenocarcinoma(123;7.04e-09)		GTACTCTCTCTCTGTGAGGTA	0.517																																						ENST00000296414.7																			0				endometrium(1)|kidney(1)|lung(4)	6						c.(217-219)Tct>Act		dual adaptor of phosphotyrosine and 3-phosphoinositides							88.0	87.0	88.0					4																	100756895		2013	4170	6183	SO:0001583	missense	27071				signal transduction	cytoplasm|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein tyrosine phosphatase activity	g.chr4:100756895T>A	AF186022	CCDS47112.1	4q25-q27	2013-02-14			ENSG00000070190	ENSG00000070190		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	16500	protein-coding gene	gene with protein product		605768				10432293	Standard	NM_014395		Approved	BAM32	uc003hvf.4	Q9UN19	OTTHUMG00000160974	ENST00000512369.1:c.217T>A	4.37:g.100756895T>A	ENSP00000423602:p.Ser73Thr					DAPP1_ENST00000512369.1_Missense_Mutation_p.S73T	p.S73T			Q9UN19	DAPP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;7.04e-09)	2	298	+			73			SH2.		Q8TCK5|Q9UHF2	Missense_Mutation	SNP	ENST00000512369.1	37	c.217T>A	CCDS47112.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.045278	0.75846	.	.	ENSG00000070190	ENST00000296414;ENST00000512369	D;D	0.92299	-3.01;-3.01	5.9	5.9	0.94986	SH2 motif (5);	0.054300	0.85682	D	0.000000	D	0.95481	0.8532	M	0.69358	2.11	0.58432	D	0.999999	D;D;D	0.89917	1.0;0.997;1.0	D;D;D	0.83275	0.996;0.942;0.987	D	0.95846	0.8870	10	0.87932	D	0	-14.1746	16.0056	0.80359	0.0:0.0:0.0:1.0	.	73;73;73	B4DW38;Q9UN19-2;Q9UN19	.;.;DAPP1_HUMAN	T	73	ENSP00000296414:S73T;ENSP00000423602:S73T	ENSP00000296414:S73T	S	+	1	0	DAPP1	100975918	1.000000	0.71417	0.936000	0.37596	0.425000	0.31504	7.175000	0.77632	2.251000	0.74343	0.528000	0.53228	TCT		0.517	DAPP1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363215.1			5	50	0	0	0	1	0	5	50				
FXYD6	53826	broad.mit.edu	37	11	117711023	117711023	+	Intron	SNP	C	C	T	rs199942688	byFrequency	TCGA-V1-A9ZR-01A-11D-A41K-08	TCGA-V1-A9ZR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1161c64b-4a41-4fce-a9d4-73d4f091c044	a78aaabf-765f-422c-80b1-597ef3a0c26d	g.chr11:117711023C>T	ENST00000526014.1	-	6	855				FXYD6_ENST00000260282.4_Intron|FXYD6_ENST00000529335.2_Intron|FXYD6_ENST00000527717.1_Intron|FXYD6_ENST00000524656.1_Intron|FXYD6-FXYD2_ENST00000532984.1_Intron|RP11-728F11.4_ENST00000525260.1_RNA|RP11-728F11.4_ENST00000534150.1_RNA|FXYD6_ENST00000540359.1_Intron|FXYD6_ENST00000527429.1_Silent_p.P90P|FXYD6_ENST00000539526.1_Intron|FXYD6_ENST00000530956.1_Intron|FXYD6_ENST00000584394.1_Intron|FXYD6_ENST00000583233.1_Intron|RP11-728F11.4_ENST00000581173.2_RNA|FXYD6_ENST00000584230.1_Silent_p.P90P	NM_022003.3	NP_071286.1	Q9H0Q3	FXYD6_HUMAN	FXYD domain containing ion transport regulator 6						ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ion channel activity (GO:0005216)			central_nervous_system(1)|large_intestine(5)|lung(1)|skin(1)	8	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|Breast(348;0.111)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.89e-05)|Epithelial(105;0.00122)		CAGGTGGTCACGGACAGTTAC	0.597													C|||	2	0.000399361	0.0	0.0014	5008	,	,		20679	0.0		0.001	False		,,,				2504	0.0					ENST00000527429.1																			0				central_nervous_system(1)|large_intestine(5)|lung(1)|skin(1)	8						c.(268-270)ccG>ccA		FXYD domain containing ion transport regulator 6		C	,,,,,	0,4402		0,0,2201	108.0	92.0	97.0		,,,,,	-5.8	0.0	11		97	6,8586	5.0+/-18.6	0,6,4290	no	intron,intron,intron,intron,intron,intron	FXYD6,FXYD6-FXYD2	NM_001164831.2,NM_001164832.2,NM_001164836.2,NM_001164837.2,NM_001204268.1,NM_022003.3	,,,,,	0,6,6491	TT,TC,CC		0.0698,0.0,0.0462	,,,,,	,,,,,	117711023	6,12988	2201	4296	6497	SO:0001627	intron_variant	53826							g.chr11:117711023C>T	BC093040	CCDS8387.1	11q23.3	2010-04-14	2002-01-14		ENSG00000137726	ENSG00000137726			4030	protein-coding gene	gene with protein product	"""phosphohippolin"""	606683	"""FXYD domain-containing ion transport regulator 6"""			10950925	Standard	NM_022003		Approved			Q9H0Q3		ENST00000526014.1:c.259+10G>A	11.37:g.117711023C>T						FXYD6_ENST00000527717.1_Intron|FXYD6_ENST00000529335.2_Intron|FXYD6_ENST00000530956.1_Intron|FXYD6-FXYD2_ENST00000532984.1_Intron|FXYD6_ENST00000584230.1_Silent_p.P90P|FXYD6_ENST00000540359.1_Intron|FXYD6_ENST00000526014.1_Intron|FXYD6_ENST00000584394.1_Intron|FXYD6_ENST00000260282.4_Intron|FXYD6_ENST00000539526.1_Intron|FXYD6_ENST00000583233.1_Intron|FXYD6_ENST00000524656.1_Intron	p.P90P						BRCA - Breast invasive adenocarcinoma(274;1.89e-05)|Epithelial(105;0.00122)	6	326	-	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|Breast(348;0.111)|all_hematologic(192;0.196)|all_neural(223;0.234)						A8K0R4|J3QLD2|Q6FIG9|Q6UW52	Silent	SNP	ENST00000526014.1	37	c.270G>A	CCDS8387.1																																																																																				0.597	FXYD6-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392307.1	NM_022003		15	41	0	0	0	1	0	15	41				
NUB1	51667	broad.mit.edu	37	7	151046260	151046260	+	Silent	SNP	A	A	T			TCGA-V1-A9ZR-01A-11D-A41K-08	TCGA-V1-A9ZR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1161c64b-4a41-4fce-a9d4-73d4f091c044	a78aaabf-765f-422c-80b1-597ef3a0c26d	g.chr7:151046260A>T	ENST00000355851.4	+	3	296	c.219A>T	c.(217-219)ggA>ggT	p.G73G	NUB1_ENST00000566856.1_Silent_p.G73G|NUB1_ENST00000413040.2_Silent_p.G97G|NUB1_ENST00000568733.1_Silent_p.G97G	NM_001243351.1	NP_001230280.1	Q9Y5A7	NUB1_HUMAN	negative regulator of ubiquitin-like proteins 1	73					positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein ubiquitination (GO:0016567)|response to interferon-gamma (GO:0034341)|response to tumor necrosis factor (GO:0034612)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				endometrium(1)|large_intestine(7)|lung(3)	11			OV - Ovarian serous cystadenocarcinoma(82;0.00569)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		GTGGAACAGGAAATGACAATT	0.373																																						ENST00000568733.1																			0				endometrium(1)|large_intestine(7)|lung(3)	11						c.(289-291)ggA>ggT		negative regulator of ubiquitin-like proteins 1							128.0	125.0	126.0					7																	151046260		1860	4102	5962	SO:0001819	synonymous_variant	51667				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process	nucleus	protein binding	g.chr7:151046260A>T	AF300717	CCDS47751.1, CCDS47751.2, CCDS59089.1	7q36	2006-07-27			ENSG00000013374	ENSG00000013374			17623	protein-coding gene	gene with protein product	"""NEDD8 ultimate buster-1"""	607981				10508479, 11259415	Standard	NM_001243351		Approved	BS4, NYREN18	uc003wjx.3	Q9Y5A7	OTTHUMG00000157365	ENST00000355851.4:c.219A>T	7.37:g.151046260A>T						NUB1_ENST00000566856.1_Silent_p.G73G|NUB1_ENST00000355851.4_Silent_p.G73G|NUB1_ENST00000413040.2_Silent_p.G97G	p.G97G			Q9Y5A7	NUB1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00569)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)	3	357	+			73					O95422|Q75MR9|Q8IX22|Q9BXR2	Silent	SNP	ENST00000355851.4	37	c.291A>T																																																																																					0.373	NUB1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_016118		18	42	0	0	0	1	0	18	42				
CPXM2	119587	broad.mit.edu	37	10	125528231	125528231	+	Silent	SNP	G	G	A			TCGA-V1-A9ZR-01A-11D-A41K-08	TCGA-V1-A9ZR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1161c64b-4a41-4fce-a9d4-73d4f091c044	a78aaabf-765f-422c-80b1-597ef3a0c26d	g.chr10:125528231G>A	ENST00000241305.3	-	9	1264	c.1110C>T	c.(1108-1110)ccC>ccT	p.P370P	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	370					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		AGTGGAACTCGGGCTCACCTT	0.567																																						ENST00000241305.3																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47						c.(1108-1110)ccC>ccT		carboxypeptidase X (M14 family), member 2							59.0	63.0	61.0					10																	125528231		2203	4300	6503	SO:0001819	synonymous_variant	119587				cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr10:125528231G>A	AY358565	CCDS7637.1	10q26	2012-02-10			ENSG00000121898	ENSG00000121898			26977	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase"""					12975309	Standard	NM_198148		Approved	UNQ676, CPX2	uc001lhk.1	Q8N436	OTTHUMG00000019206	ENST00000241305.3:c.1110C>T	10.37:g.125528231G>A						CPXM2_ENST00000368854.3_5'UTR	p.P370P	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)	9	1264	-		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)	370					B4E3Q2	Silent	SNP	ENST00000241305.3	37	c.1110C>T	CCDS7637.1																																																																																				0.567	CPXM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050853.1	NM_198148		16	54	0	0	0	1	0	16	54				
TIAM2	26230	broad.mit.edu	37	6	155451501	155451501	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9ZR-01A-11D-A41K-08	TCGA-V1-A9ZR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1161c64b-4a41-4fce-a9d4-73d4f091c044	a78aaabf-765f-422c-80b1-597ef3a0c26d	g.chr6:155451501C>T	ENST00000461783.3	+	6	2417	c.1144C>T	c.(1144-1146)Cgg>Tgg	p.R382W	TIAM2_ENST00000529824.2_Missense_Mutation_p.R382W|TIAM2_ENST00000456144.1_Missense_Mutation_p.R382W|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000360366.4_Missense_Mutation_p.R382W|TIAM2_ENST00000318981.5_Missense_Mutation_p.R382W			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	382					apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		CAGGATGCGACGGATCAGTGA	0.552																																						ENST00000461783.3																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65						c.(1144-1146)Cgg>Tgg		T-cell lymphoma invasion and metastasis 2							61.0	61.0	61.0					6																	155451501		2203	4300	6503	SO:0001583	missense	26230				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr6:155451501C>T		CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.1144C>T	6.37:g.155451501C>T	ENSP00000437188:p.Arg382Trp					TIAM2_ENST00000456144.1_Missense_Mutation_p.R382W|TIAM2_ENST00000360366.4_Missense_Mutation_p.R382W|TIAM2_ENST00000529824.2_Missense_Mutation_p.R382W|TIAM2_ENST00000318981.5_Missense_Mutation_p.R382W|TIAM2_ENST00000367174.2_5'UTR	p.R382W			Q8IVF5	TIAM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)	6	2417	+		Ovarian(120;0.196)	382					B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Missense_Mutation	SNP	ENST00000461783.3	37	c.1144C>T	CCDS34558.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.148060	0.78001	.	.	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000528535;ENST00000456144;ENST00000318981;ENST00000360366;ENST00000529824	T;T;T;T;T;T	0.07216	3.32;3.21;3.28;3.32;3.32;3.28	5.29	3.44	0.39384	.	0.000000	0.85682	D	0.000000	T	0.17365	0.0417	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.01273	-1.1399	10	0.87932	D	0	.	13.032	0.58847	0.2914:0.7086:0.0:0.0	.	382	Q8IVF5	TIAM2_HUMAN	W	382;628;382;382;382;382;382	ENSP00000437188:R382W;ENSP00000434901:R382W;ENSP00000407746:R382W;ENSP00000327315:R382W;ENSP00000353528:R382W;ENSP00000433348:R382W	ENSP00000327315:R382W	R	+	1	2	TIAM2	155493193	1.000000	0.71417	0.728000	0.30774	0.980000	0.70556	4.329000	0.59260	1.241000	0.43820	-0.152000	0.13540	CGG		0.552	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454		6	47	0	0	0	1	0	6	47				
TANC2	26115	broad.mit.edu	37	17	61417574	61417574	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A9ZR-01A-11D-A41K-08	TCGA-V1-A9ZR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1161c64b-4a41-4fce-a9d4-73d4f091c044	a78aaabf-765f-422c-80b1-597ef3a0c26d	g.chr17:61417574G>A	ENST00000424789.2	+	10	1470	c.1466G>A	c.(1465-1467)cGg>cAg	p.R489Q	TANC2_ENST00000389520.4_Missense_Mutation_p.R489Q|AC037445.1_ENST00000581421.1_RNA	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	489					in utero embryonic development (GO:0001701)					breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						ACAGCCTATCGGGAGCAGCTT	0.552																																						ENST00000424789.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						c.(1465-1467)cGg>cAg		tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2							84.0	81.0	82.0					17																	61417574		2035	4214	6249	SO:0001583	missense	26115						binding	g.chr17:61417574G>A	AB032974	CCDS45754.1	17q23.3	2013-01-11				ENSG00000170921		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30212	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	615047					Standard	NM_025185		Approved	DKFZP564D166, FLJ10215, FLJ11824, KIAA1148, KIAA1636, rols, ROLSA	uc002jal.4	Q9HCD6		ENST00000424789.2:c.1466G>A	17.37:g.61417574G>A	ENSP00000387593:p.Arg489Gln					TANC2_ENST00000389520.4_Missense_Mutation_p.R489Q	p.R489Q	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN			10	1470	+			489					Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	Missense_Mutation	SNP	ENST00000424789.2	37	c.1466G>A	CCDS45754.1	.	.	.	.	.	.	.	.	.	.	G	36	5.665614	0.96745	.	.	ENSG00000170921	ENST00000389520;ENST00000424789	T;T	0.68624	-0.34;-0.34	5.23	5.23	0.72850	.	0.056499	0.64402	D	0.000002	T	0.77705	0.4170	L	0.58302	1.8	0.58432	D	0.999998	D;D	0.67145	0.962;0.996	P;P	0.60236	0.468;0.871	T	0.79332	-0.1847	10	0.59425	D	0.04	.	18.7868	0.91959	0.0:0.0:1.0:0.0	.	489;489	Q9HCD6-2;Q9HCD6	.;TANC2_HUMAN	Q	489	ENSP00000374171:R489Q;ENSP00000387593:R489Q	ENSP00000374171:R489Q	R	+	2	0	TANC2	58771306	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.012000	0.88631	2.431000	0.82371	0.563000	0.77884	CGG		0.552	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444765.1			22	51	0	0	0	1	0	22	51				
FBN1	2200	broad.mit.edu	37	15	48791237	48791237	+	Splice_Site	SNP	T	T	A			TCGA-V1-A9ZR-01A-11D-A41K-08	TCGA-V1-A9ZR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1161c64b-4a41-4fce-a9d4-73d4f091c044	a78aaabf-765f-422c-80b1-597ef3a0c26d	g.chr15:48791237T>A	ENST00000316623.5	-	18	2569		c.e18-2			NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1						extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GATATTCCGCTGCAATAAATT	0.448																																						ENST00000316623.5																			0				NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139	GRCh37	CS077353	FBN1	S		c.e18-2		fibrillin 1							130.0	124.0	126.0					15																	48791237		2197	4296	6493	SO:0001630	splice_region_variant	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48791237T>A	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.2114-2A>T	15.37:g.48791237T>A								NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	18	2569	-		all_lung(180;0.00279)						B2RUU0|D2JYH6|Q15972|Q75N87	Splice_Site	SNP	ENST00000316623.5	37		CCDS32232.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.555517	0.86231	.	.	ENSG00000166147	ENST00000316623	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.644	0.68745	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	FBN1	46578529	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.122000	0.71608	2.150000	0.67090	0.533000	0.62120	.		0.448	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1		Intron	23	84	0	0	0	1	0	23	84				
TROAP	10024	broad.mit.edu	37	12	49721016	49721016	+	Missense_Mutation	SNP	G	G	A	rs138091021		TCGA-V1-A9ZR-01A-11D-A41K-08	TCGA-V1-A9ZR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1161c64b-4a41-4fce-a9d4-73d4f091c044	a78aaabf-765f-422c-80b1-597ef3a0c26d	g.chr12:49721016G>A	ENST00000257909.3	+	8	870	c.794G>A	c.(793-795)cGc>cAc	p.R265H	RP11-161H23.9_ENST00000553259.1_RNA|TROAP_ENST00000547923.1_5'UTR|TROAP_ENST00000551245.1_Missense_Mutation_p.R265H	NM_005480.3	NP_005471.3	Q12815	TROAP_HUMAN	trophinin associated protein	265					cell adhesion (GO:0007155)	cytoplasm (GO:0005737)				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						AAAGGAGAACGCGAGGTTGTC	0.478																																						ENST00000551245.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						c.(793-795)cGc>cAc		trophinin associated protein		G	HIS/ARG	0,4406		0,0,2203	130.0	117.0	122.0		794	-6.2	0.0	12	dbSNP_134	122	1,8599	1.2+/-3.3	0,1,4299	no	missense	TROAP	NM_005480.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	265/779	49721016	1,13005	2203	4300	6503	SO:0001583	missense	10024				cell adhesion	cytoplasm		g.chr12:49721016G>A	U04810	CCDS8784.1, CCDS41779.1, CCDS61117.1	12q13.12	2012-10-17	2012-10-17		ENSG00000135451	ENSG00000135451			12327	protein-coding gene	gene with protein product	"""tastin"""	603872				7758945	Standard	NM_005480		Approved	TASTIN	uc001rtx.4	Q12815	OTTHUMG00000169486	ENST00000257909.3:c.794G>A	12.37:g.49721016G>A	ENSP00000257909:p.Arg265His					TROAP_ENST00000547923.1_5'UTR|TROAP_ENST00000257909.3_Missense_Mutation_p.R265H	p.R265H			Q12815	TROAP_HUMAN			8	905	+			265					F8VSF9|Q6PJU7|Q8N5B2	Missense_Mutation	SNP	ENST00000257909.3	37	c.794G>A	CCDS8784.1	.	.	.	.	.	.	.	.	.	.	G	3.105	-0.183855	0.06340	0.0	1.16E-4	ENSG00000135451	ENST00000551245;ENST00000550346;ENST00000257909;ENST00000547807	.	.	.	5.13	-6.15	0.02105	.	0.845097	0.10278	N	0.693906	T	0.05547	0.0146	N	0.00554	-1.385	0.22050	N	0.999398	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.39522	-0.9610	9	0.02654	T	1	0.4861	7.3217	0.26531	0.253:0.5098:0.2372:0.0	.	265;265	F8W130;Q12815	.;TROAP_HUMAN	H	265;148;265;259	.	ENSP00000257909:R265H	R	+	2	0	TROAP	48007283	0.103000	0.21917	0.032000	0.17829	0.902000	0.53008	0.282000	0.18829	-0.770000	0.04614	-0.294000	0.09567	CGC		0.478	TROAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404300.1	NM_005480		25	51	0	0	0	1	0	25	51				
SLCO3A1	28232	broad.mit.edu	37	15	92459376	92459376	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A9ZR-01A-11D-A41K-08	TCGA-V1-A9ZR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1161c64b-4a41-4fce-a9d4-73d4f091c044	a78aaabf-765f-422c-80b1-597ef3a0c26d	g.chr15:92459376G>A	ENST00000318445.6	+	2	548	c.334G>A	c.(334-336)Ggc>Agc	p.G112S	SLCO3A1_ENST00000424469.2_Missense_Mutation_p.G112S	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	112					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)		Alprostadil(DB00770)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Iloprost(DB01088)|Methotrexate(DB00563)	GATCGGCTGCGGCGGCATCGT	0.692																																						ENST00000318445.6																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25						c.(334-336)Ggc>Agc		solute carrier organic anion transporter family, member 3A1							17.0	15.0	16.0					15																	92459376		2119	4135	6254	SO:0001583	missense	28232				sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity	g.chr15:92459376G>A	AB031050	CCDS10371.1, CCDS45354.1	15q26	2013-05-22	2003-11-25	2003-11-26	ENSG00000176463	ENSG00000176463		"""Solute carriers"""	10952	protein-coding gene	gene with protein product		612435	"""solute carrier family 21 (organic anion transporter), member 11"""	SLC21A11			Standard	NM_001145044		Approved	OATP-D, OATP3A1	uc002bqx.2	Q9UIG8	OTTHUMG00000149846	ENST00000318445.6:c.334G>A	15.37:g.92459376G>A	ENSP00000320634:p.Gly112Ser					SLCO3A1_ENST00000424469.2_Missense_Mutation_p.G112S	p.G112S	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0841)		2	548	+	Lung NSC(78;0.0158)|all_lung(78;0.0255)		112					A8K4A7|B3KPY5|B3KUR7|C6G486|Q9BW73|Q9GZV2	Missense_Mutation	SNP	ENST00000318445.6	37	c.334G>A	CCDS10371.1	.	.	.	.	.	.	.	.	.	.	G	36	5.769967	0.96914	.	.	ENSG00000176463	ENST00000318445;ENST00000424469;ENST00000553304	T;T;T	0.80909	-1.43;-1.43;-1.43	5.22	5.22	0.72569	Major facilitator superfamily domain, general substrate transporter (1);	0.050808	0.85682	D	0.000000	D	0.90518	0.7029	M	0.83118	2.625	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.91334	0.5092	10	0.62326	D	0.03	.	18.1361	0.89619	0.0:0.0:1.0:0.0	.	54;112;112	Q9UIG8-3;Q9UIG8-2;Q9UIG8	.;.;SO3A1_HUMAN	S	112;112;54	ENSP00000320634:G112S;ENSP00000387846:G112S;ENSP00000450559:G54S	ENSP00000320634:G112S	G	+	1	0	SLCO3A1	90260380	1.000000	0.71417	0.993000	0.49108	0.952000	0.60782	9.350000	0.97070	2.612000	0.88384	0.655000	0.94253	GGC		0.692	SLCO3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313529.1	NM_013272		3	28	0	0	0	1	0	3	28				
HOOK3	84376	broad.mit.edu	37	8	42828436	42828436	+	Missense_Mutation	SNP	T	T	C			TCGA-V1-A9ZR-01A-11D-A41K-08	TCGA-V1-A9ZR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1161c64b-4a41-4fce-a9d4-73d4f091c044	a78aaabf-765f-422c-80b1-597ef3a0c26d	g.chr8:42828436T>C	ENST00000307602.4	+	12	1327	c.1127T>C	c.(1126-1128)gTa>gCa	p.V376A		NM_032410.3	NP_115786.1	Q86VS8	HOOK3_HUMAN	hook microtubule-tethering protein 3	376					cytoplasmic microtubule organization (GO:0031122)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|Golgi localization (GO:0051645)|interkinetic nuclear migration (GO:0022027)|lysosome organization (GO:0007040)|microtubule anchoring at centrosome (GO:0034454)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|protein localization to centrosome (GO:0071539)|protein transport (GO:0015031)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|FHF complex (GO:0070695)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule organizing center (GO:0005815)|pericentriolar material (GO:0000242)	identical protein binding (GO:0042802)|microtubule binding (GO:0008017)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	31	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			TATCAGGTAGTAGAACTACAA	0.303			T	RET	papillary thyroid																																	ENST00000307602.4				Dom	yes		8	8p11.21	84376	T	hook homolog 3			E	RET		papillary thyroid		0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	31						c.(1126-1128)gTa>gCa		hook microtubule-tethering protein 3							48.0	52.0	51.0					8																	42828436		2202	4295	6497	SO:0001583	missense	84376				cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|Golgi localization|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport	cis-Golgi network|FHF complex|microtubule|pericentriolar material	identical protein binding|microtubule binding	g.chr8:42828436T>C	AK090540	CCDS6139.1	8p11.21	2013-08-21	2013-08-21		ENSG00000168172	ENSG00000168172			23576	protein-coding gene	gene with protein product		607825	"""hook homolog 3 (Drosophila)"""			9927460	Standard	NM_032410		Approved	HK3	uc003xpr.3	Q86VS8	OTTHUMG00000165278	ENST00000307602.4:c.1127T>C	8.37:g.42828436T>C	ENSP00000305699:p.Val376Ala						p.V376A	NM_032410.3	NP_115786.1	Q86VS8	HOOK3_HUMAN	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)		12	1327	+	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	376					D3DSY8|Q8NBH0|Q9BY13	Missense_Mutation	SNP	ENST00000307602.4	37	c.1127T>C	CCDS6139.1	.	.	.	.	.	.	.	.	.	.	T	14.51	2.556722	0.45487	.	.	ENSG00000168172	ENST00000307602	T	0.16897	2.31	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.18509	0.0444	L	0.41824	1.3	0.80722	D	1	B	0.27380	0.177	B	0.37731	0.257	T	0.03545	-1.1026	10	0.08599	T	0.76	-26.9537	15.5356	0.76001	0.0:0.0:0.0:1.0	.	376	Q86VS8	HOOK3_HUMAN	A	376	ENSP00000305699:V376A	ENSP00000305699:V376A	V	+	2	0	HOOK3	42947593	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.525000	0.81892	2.125000	0.65367	0.460000	0.39030	GTA		0.303	HOOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383172.2	NM_032410		14	34	0	0	0	1	0	14	34				
ARFGAP3	26286	broad.mit.edu	37	22	43204771	43204771	+	Splice_Site	SNP	A	A	T			TCGA-V1-A9ZR-01A-11D-A41K-08	TCGA-V1-A9ZR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1161c64b-4a41-4fce-a9d4-73d4f091c044	a78aaabf-765f-422c-80b1-597ef3a0c26d	g.chr22:43204771A>T	ENST00000263245.5	-	13	1540		c.e13+1		ARFGAP3_ENST00000429508.2_Splice_Site|ARFGAP3_ENST00000437119.2_Splice_Site	NM_001142293.1|NM_014570.4	NP_001135765.1|NP_055385.3	Q9NP61	ARFG3_HUMAN	ADP-ribosylation factor GTPase activating protein 3						intracellular protein transport (GO:0006886)|positive regulation of GTPase activity (GO:0043547)|protein secretion (GO:0009306)|regulation of ARF GTPase activity (GO:0032312)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	11						CTGGACCCTTACATCAGCCTG	0.493																																					GBM(58;544 1030 21460 27159 48838)	ENST00000263245.5																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	11						c.e13+1		ADP-ribosylation factor GTPase activating protein 3							143.0	132.0	136.0					22																	43204771		2203	4300	6503	SO:0001630	splice_region_variant	26286				intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport	cytosol|Golgi membrane	ARF GTPase activator activity|protein transporter activity|zinc ion binding	g.chr22:43204771A>T	AK002083	CCDS14042.1, CCDS46722.1	22q13.2	2009-11-30	2002-08-20	2002-08-23	ENSG00000242247	ENSG00000242247		"""ADP-ribosylation factor GTPase activating proteins"""	661	protein-coding gene	gene with protein product		612439	"""ADP-ribosylation factor GTPase activating protein 1"""	ARFGAP1		10704287, 11172815	Standard	NM_014570		Approved		uc003bdd.2	Q9NP61	OTTHUMG00000150718	ENST00000263245.5:c.1320+1T>A	22.37:g.43204771A>T						ARFGAP3_ENST00000437119.2_Splice_Site|ARFGAP3_ENST00000429508.2_Splice_Site		NM_001142293.1|NM_014570.4	NP_001135765.1|NP_055385.3	Q9NP61	ARFG3_HUMAN			13	1540	-								E9PB03|Q9BSC6|Q9H9J0|Q9NT10|Q9NUP5|Q9Y4V3|Q9Y4V4	Splice_Site	SNP	ENST00000263245.5	37		CCDS14042.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.267093	0.80469	.	.	ENSG00000242247	ENST00000263245;ENST00000429508;ENST00000437119;ENST00000453516	.	.	.	4.95	4.95	0.65309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.5727	0.61856	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ARFGAP3	41534715	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	6.283000	0.72646	1.851000	0.53745	0.533000	0.62120	.		0.493	ARFGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319747.2	NM_014570	Intron	25	76	0	0	0	1	0	25	76				
AQP9	366	broad.mit.edu	37	15	58465296	58465296	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A9ZR-01A-11D-A41K-08	TCGA-V1-A9ZR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1161c64b-4a41-4fce-a9d4-73d4f091c044	a78aaabf-765f-422c-80b1-597ef3a0c26d	g.chr15:58465296G>A	ENST00000219919.4	+	3	638	c.268G>A	c.(268-270)Gca>Aca	p.A90T	AQP9_ENST00000536493.1_Missense_Mutation_p.A90T|AQP9_ENST00000558772.1_Missense_Mutation_p.A25T|ALDH1A2_ENST00000558231.1_Intron	NM_020980.3	NP_066190.2	O43315	AQP9_HUMAN	aquaporin 9	90					amine transport (GO:0015837)|canalicular bile acid transport (GO:0015722)|carboxylic acid transport (GO:0046942)|cellular response to cAMP (GO:0071320)|excretion (GO:0007588)|glycerol transport (GO:0015793)|immune response (GO:0006955)|metabolic process (GO:0008152)|polyol transport (GO:0015791)|purine nucleobase transport (GO:0006863)|pyrimidine nucleobase transport (GO:0015855)|pyrimidine-containing compound transmembrane transport (GO:0072531)|response to mercury ion (GO:0046689)|response to organic substance (GO:0010033)|response to osmotic stress (GO:0006970)|transmembrane transport (GO:0055085)|transport (GO:0006810)|water homeostasis (GO:0030104)|water transport (GO:0006833)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	amine transmembrane transporter activity (GO:0005275)|carboxylic acid transmembrane transporter activity (GO:0046943)|glycerol channel activity (GO:0015254)|polyol transmembrane transporter activity (GO:0015166)|porin activity (GO:0015288)|purine nucleobase transmembrane transporter activity (GO:0005345)|pyrimidine nucleobase transmembrane transporter activity (GO:0005350)|water channel activity (GO:0015250)|water transmembrane transporter activity (GO:0005372)			endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)	21				GBM - Glioblastoma multiforme(80;0.16)		TGTGTCTTTAGCAATGTGTCT	0.478																																						ENST00000219919.4																			0				endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)	21						c.(268-270)Gca>Aca		aquaporin 9							208.0	200.0	202.0					15																	58465296		2192	4292	6484	SO:0001583	missense	366				cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis	integral to plasma membrane|intracellular membrane-bounded organelle	amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity	g.chr15:58465296G>A	AF016495	CCDS10165.1	15q	2005-09-20			ENSG00000103569	ENSG00000103569		"""Ion channels / Aquaporins"""	643	protein-coding gene	gene with protein product		602914					Standard	NM_020980		Approved	SSC1, HsT17287	uc002aez.2	O43315	OTTHUMG00000132631	ENST00000219919.4:c.268G>A	15.37:g.58465296G>A	ENSP00000219919:p.Ala90Thr					ALDH1A2_ENST00000558231.1_Intron|AQP9_ENST00000536493.1_Missense_Mutation_p.A90T|AQP9_ENST00000558772.1_Missense_Mutation_p.A25T	p.A90T	NM_020980.3	NP_066190.2	O43315	AQP9_HUMAN		GBM - Glioblastoma multiforme(80;0.16)	3	638	+			90					Q9NP32	Missense_Mutation	SNP	ENST00000219919.4	37	c.268G>A	CCDS10165.1	.	.	.	.	.	.	.	.	.	.	G	13.37	2.217171	0.39201	.	.	ENSG00000103569	ENST00000219919;ENST00000536493	D;D	0.89485	-2.52;-2.52	5.46	4.53	0.55603	Major intrinsic protein, conserved site (1);Aquaporin-like (2);	0.067572	0.64402	D	0.000010	D	0.87589	0.6215	L	0.37697	1.125	0.80722	D	1	P	0.36465	0.554	P	0.45946	0.498	D	0.86116	0.1565	10	0.40728	T	0.16	.	14.7054	0.69186	0.0702:0.0:0.9298:0.0	.	90	O43315	AQP9_HUMAN	T	90	ENSP00000219919:A90T;ENSP00000441390:A90T	ENSP00000219919:A90T	A	+	1	0	AQP9	56252588	1.000000	0.71417	0.977000	0.42913	0.371000	0.29859	6.159000	0.71856	2.840000	0.97914	0.655000	0.94253	GCA		0.478	AQP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255878.2	NM_020980		37	118	0	0	0	1	0	37	118				
GSN	2934	broad.mit.edu	37	9	124072998	124072998	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9ZR-01A-11D-A41K-08	TCGA-V1-A9ZR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1161c64b-4a41-4fce-a9d4-73d4f091c044	a78aaabf-765f-422c-80b1-597ef3a0c26d	g.chr9:124072998C>T	ENST00000373818.4	+	4	610	c.541C>T	c.(541-543)Ccc>Tcc	p.P181S	GSN_ENST00000373807.1_5'Flank|GSN_ENST00000449733.1_Missense_Mutation_p.P130S|GSN_ENST00000485767.1_3'UTR|GSN_ENST00000373823.3_Missense_Mutation_p.P130S|GSN_ENST00000412819.1_Missense_Mutation_p.P130S|GSN_ENST00000436847.1_Missense_Mutation_p.P141S|GSN_ENST00000373808.2_Missense_Mutation_p.P130S|GSN_ENST00000341272.2_Missense_Mutation_p.P130S|GSN_ENST00000545652.1_Missense_Mutation_p.P138S|GSN_ENST00000394353.2_Missense_Mutation_p.P141S	NM_000177.4|NM_001258029.1	NP_000168.1|NP_001244958.1	P06396	GELS_HUMAN	gelsolin	181					actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|aging (GO:0007568)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to cadmium ion (GO:0071276)|cilium morphogenesis (GO:0060271)|oligodendrocyte development (GO:0014003)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of cell adhesion (GO:0030155)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|tissue regeneration (GO:0042246)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						GCACGTGGTACCCAACGAGGT	0.577																																						ENST00000373823.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						c.(388-390)Ccc>Tcc		gelsolin							188.0	134.0	152.0					9																	124072998		2203	4300	6503	SO:0001583	missense	2934				actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding	g.chr9:124072998C>T	X04412	CCDS6828.1, CCDS6829.1, CCDS48011.1, CCDS65118.1, CCDS75890.1, CCDS75891.1	9q33	2010-04-27	2010-04-27		ENSG00000148180	ENSG00000148180			4620	protein-coding gene	gene with protein product	"""amyloidosis, Finnish type"""	137350	"""gelsolin (amyloidosis, Finnish type)"""			1652889	Standard	NM_001127662		Approved	DKFZp313L0718	uc004blf.1	P06396	OTTHUMG00000020584	ENST00000373818.4:c.541C>T	9.37:g.124072998C>T	ENSP00000362924:p.Pro181Ser					GSN_ENST00000545652.1_Missense_Mutation_p.P138S|GSN_ENST00000373818.4_Missense_Mutation_p.P181S|GSN_ENST00000412819.1_Missense_Mutation_p.P130S|GSN_ENST00000373808.2_Missense_Mutation_p.P130S|GSN_ENST00000485767.1_3'UTR|GSN_ENST00000436847.1_Missense_Mutation_p.P141S|GSN_ENST00000341272.2_Missense_Mutation_p.P130S|GSN_ENST00000394353.2_Missense_Mutation_p.P141S|GSN_ENST00000449733.1_Missense_Mutation_p.P130S	p.P130S			P06396	GELS_HUMAN			12	1293	+			181			Actin-severing (Potential).		A2A418|A8MUD1|A8MYN7|B7Z373|B7Z5V1|F5H1A8|Q5T0I2|Q8WVV7	Missense_Mutation	SNP	ENST00000373818.4	37	c.388C>T	CCDS6828.1	.	.	.	.	.	.	.	.	.	.	C	16.78	3.217946	0.58560	.	.	ENSG00000148180	ENST00000373823;ENST00000432226;ENST00000449773;ENST00000436847;ENST00000394353;ENST00000449733;ENST00000412819;ENST00000341272;ENST00000373808;ENST00000394352;ENST00000456109;ENST00000545652;ENST00000373818	T;T;T;T;T;T;T;T;T;T;T	0.62105	0.05;0.05;0.05;0.05;0.05;0.05;0.05;0.05;0.05;0.05;0.05	5.33	5.33	0.75918	.	0.096164	0.64402	D	0.000001	T	0.54743	0.1877	L	0.39147	1.195	0.58432	D	0.999992	B;B;B;B	0.18013	0.0;0.025;0.001;0.001	B;B;B;B	0.11329	0.0;0.006;0.001;0.002	T	0.48768	-0.9006	10	0.26408	T	0.33	-17.1482	17.5915	0.87998	0.0:1.0:0.0:0.0	.	154;138;141;181	B7Z9A0;F5H1A8;B7Z373;P06396	.;.;.;GELS_HUMAN	S	130;130;141;141;141;130;130;130;130;114;104;138;181	ENSP00000362929:P130S;ENSP00000404226:P130S;ENSP00000410657:P141S;ENSP00000411293:P141S;ENSP00000377882:P141S;ENSP00000409358:P130S;ENSP00000416586:P130S;ENSP00000340888:P130S;ENSP00000362914:P130S;ENSP00000445823:P138S;ENSP00000362924:P181S	ENSP00000340888:P130S	P	+	1	0	GSN	123112819	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.757000	0.62213	2.492000	0.84095	0.655000	0.94253	CCC		0.577	GSN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053861.1	NM_000177		8	16	0	0	0	1	0	8	16				
ZNF99	7652	broad.mit.edu	37	19	22940373	22940373	+	Missense_Mutation	SNP	T	T	C			TCGA-V1-A9ZR-01A-11D-A41K-08	TCGA-V1-A9ZR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1161c64b-4a41-4fce-a9d4-73d4f091c044	a78aaabf-765f-422c-80b1-597ef3a0c26d	g.chr19:22940373T>C	ENST00000596209.1	-	4	2428	c.2338A>G	c.(2338-2340)Aag>Gag	p.K780E	CTC-451A6.4_ENST00000442497.2_lincRNA|ZNF99_ENST00000397104.3_Missense_Mutation_p.K689E	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	780					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K689E(3)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TGAATTATCTTATGTTTTCTA	0.343																																						ENST00000397104.3																			3	Substitution - Missense(3)	p.K689E(3)	prostate(1)|lung(1)|kidney(1)	NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124						c.(2065-2067)Aag>Gag		zinc finger protein 99							32.0	34.0	34.0					19																	22940373		1947	4138	6085	SO:0001583	missense	7652							g.chr19:22940373T>C	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.2338A>G	19.37:g.22940373T>C	ENSP00000472969:p.Lys780Glu					ZNF99_ENST00000596209.1_Missense_Mutation_p.K780E	p.K689E							5	2064	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	c.2065A>G	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	t	9.727	1.161345	0.21538	.	.	ENSG00000213973	ENST00000397104	T	0.18016	2.24	1.26	-2.52	0.06346	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.20495	0.0493	L	0.28400	0.85	0.09310	N	1	D	0.65815	0.995	D	0.65233	0.933	T	0.12837	-1.0532	9	0.54805	T	0.06	.	4.187	0.10402	0.1821:0.0:0.5141:0.3038	.	689	A8MXY4	ZNF99_HUMAN	E	689	ENSP00000380293:K689E	ENSP00000380293:K689E	K	-	1	0	ZNF99	22732213	0.000000	0.05858	0.002000	0.10522	0.007000	0.05969	-0.737000	0.04877	-0.939000	0.03709	0.313000	0.20887	AAG		0.343	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		4	56	0	0	0	1	0	4	56				
CAMKMT	79823	broad.mit.edu	37	2	44599893	44599893	+	Missense_Mutation	SNP	T	T	A	rs369307588		TCGA-V1-A9ZR-01A-11D-A41K-08	TCGA-V1-A9ZR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1161c64b-4a41-4fce-a9d4-73d4f091c044	a78aaabf-765f-422c-80b1-597ef3a0c26d	g.chr2:44599893T>A	ENST00000378494.3	+	2	221	c.177T>A	c.(175-177)caT>caA	p.H59Q	CAMKMT_ENST00000477623.1_Intron|CAMKMT_ENST00000407131.1_Missense_Mutation_p.H59Q|CAMKMT_ENST00000402247.1_Missense_Mutation_p.H59Q|CAMKMT_ENST00000403853.3_Missense_Mutation_p.H59Q	NM_024766.4	NP_079042.1	Q7Z624	CMKMT_HUMAN	calmodulin-lysine N-methyltransferase	59						Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	calmodulin-lysine N-methyltransferase activity (GO:0018025)			breast(2)|large_intestine(3)|lung(5)	10						GCCTGCGACATGTATCTGTAA	0.358																																						ENST00000378494.3																			0				breast(2)|large_intestine(3)|lung(5)	10						c.(175-177)caT>caA		calmodulin-lysine N-methyltransferase							120.0	126.0	124.0					2																	44599893		2203	4300	6503	SO:0001583	missense	79823					cytoplasm	calmodulin-lysine N-methyltransferase activity	g.chr2:44599893T>A		CCDS1820.1	2p21	2011-06-22	2011-03-10	2011-03-10	ENSG00000143919	ENSG00000143919	2.1.1.60		26276	protein-coding gene	gene with protein product	"""CaM KMT"""	609559	"""chromosome 2 open reading frame 34"""	C2orf34		20975703	Standard	NM_024766		Approved	CLNMT	uc002rum.3	Q7Z624	OTTHUMG00000128761	ENST00000378494.3:c.177T>A	2.37:g.44599893T>A	ENSP00000367755:p.His59Gln					CAMKMT_ENST00000407131.1_Missense_Mutation_p.H59Q|CAMKMT_ENST00000402247.1_Missense_Mutation_p.H59Q|CAMKMT_ENST00000403853.3_Missense_Mutation_p.H59Q|CAMKMT_ENST00000477623.1_Intron	p.H59Q	NM_024766.3	NP_079042.1	Q7Z624	CMKMT_HUMAN			2	221	+			59					Q4ZG15|Q53SS6|Q8N6P5|Q9H5G8	Missense_Mutation	SNP	ENST00000378494.3	37	c.177T>A	CCDS1820.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	8.940|8.940	0.965584|0.965584	0.18583|0.18583	.|.	.|.	ENSG00000143919|ENSG00000143919	ENST00000428929|ENST00000402247;ENST00000454848;ENST00000407131;ENST00000378494;ENST00000403853	.|.	.|.	.|.	5.75|5.75	-3.15|-3.15	0.05233|0.05233	.|.	.|0.361231	.|0.23658	.|N	.|0.045854	T|T	0.23688|0.23688	0.0573|0.0573	L|L	0.39898|0.39898	1.24|1.24	0.24802|0.24802	N|N	0.992699|0.992699	.|B;B	.|0.24823	.|0.001;0.112	.|B;B	.|0.20384	.|0.002;0.029	T|T	0.20405|0.20405	-1.0276|-1.0276	5|9	.|0.16896	.|T	.|0.51	-3.0896|-3.0896	6.4483|6.4483	0.21890|0.21890	0.2326:0.4508:0.0:0.3166|0.2326:0.4508:0.0:0.3166	.|.	.|59;59	.|Q7Z624;Q7Z624-2	.|CMKMT_HUMAN;.	S|Q	5|59	.|.	.|ENSP00000367755:H59Q	C|H	+|+	1|3	0|2	CAMKMT|CAMKMT	44453397|44453397	0.818000|0.818000	0.29161|0.29161	0.767000|0.767000	0.31495|0.31495	0.997000|0.997000	0.91878|0.91878	-0.149000|-0.149000	0.10204|0.10204	-0.126000|-0.126000	0.11682|0.11682	0.533000|0.533000	0.62120|0.62120	TGT|CAT		0.358	CAMKMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250678.2	NM_024766		17	51	0	0	0	1	0	17	51				
AHCYL1	10768	broad.mit.edu	37	1	110563392	110563392	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9ZR-01A-11D-A41K-08	TCGA-V1-A9ZR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1161c64b-4a41-4fce-a9d4-73d4f091c044	a78aaabf-765f-422c-80b1-597ef3a0c26d	g.chr1:110563392C>T	ENST00000369799.5	+	16	1872	c.1505C>T	c.(1504-1506)gCc>gTc	p.A502V	AHCYL1_ENST00000359172.3_Missense_Mutation_p.A455V|AHCYL1_ENST00000393614.4_Missense_Mutation_p.A455V	NM_001242673.1|NM_001242674.1|NM_006621.5	NP_001229602.1|NP_001229603.1|NP_006612.2	O43865	SAHH2_HUMAN	adenosylhomocysteinase-like 1	502					mRNA polyadenylation (GO:0006378)|one-carbon metabolic process (GO:0006730)|positive regulation of sodium ion transport (GO:0010765)|protein export from nucleus (GO:0006611)|regulation of anion transport (GO:0044070)|regulation of ion transmembrane transporter activity (GO:0032412)|regulation of mRNA 3'-end processing (GO:0031440)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	adenosylhomocysteinase activity (GO:0004013)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)	18		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0259)|Colorectal(144;0.123)|all cancers(265;0.134)|Epithelial(280;0.141)|LUSC - Lung squamous cell carcinoma(189;0.143)		TCATTTGATGCCCACCTTACA	0.433																																						ENST00000369799.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)	18						c.(1504-1506)gCc>gTc		adenosylhomocysteinase-like 1							155.0	161.0	159.0					1																	110563392		2203	4300	6503	SO:0001583	missense	10768				one-carbon metabolic process	endoplasmic reticulum	adenosylhomocysteinase activity	g.chr1:110563392C>T	U82761	CCDS818.1, CCDS55620.1	1p13	2014-06-12	2009-06-12		ENSG00000168710	ENSG00000168710			344	protein-coding gene	gene with protein product	"""inositol 1,4,5-trisphosphate receptor-binding protein"", ""protein phosphatase 1, regulatory subunit 78"""	607826	"""S-adenosylhomocysteine hydrolase-like 1"""			11904675, 16754674, 12525476	Standard	NM_006621		Approved	XPVKONA, IRBIT, PPP1R78	uc001dyx.3	O43865	OTTHUMG00000011652	ENST00000369799.5:c.1505C>T	1.37:g.110563392C>T	ENSP00000358814:p.Ala502Val					AHCYL1_ENST00000393614.4_Missense_Mutation_p.A455V|AHCYL1_ENST00000359172.3_Missense_Mutation_p.A455V	p.A502V	NM_001242673.1|NM_001242674.1|NM_006621.5	NP_001229602.1|NP_001229603.1|NP_006612.2	O43865	SAHH2_HUMAN		Lung(183;0.0259)|Colorectal(144;0.123)|all cancers(265;0.134)|Epithelial(280;0.141)|LUSC - Lung squamous cell carcinoma(189;0.143)	16	1872	+		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	502					B4E168|Q2TAJ6|Q502W8|Q5VSM0|Q6P171|Q96PK4|Q9UG84	Missense_Mutation	SNP	ENST00000369799.5	37	c.1505C>T	CCDS818.1	.	.	.	.	.	.	.	.	.	.	C	33	5.241332	0.95272	.	.	ENSG00000168710	ENST00000369799;ENST00000359172;ENST00000393614	T;T;T	0.75367	-0.93;-0.93;-0.93	5.94	5.94	0.96194	.	0.046774	0.85682	D	0.000000	T	0.74298	0.3698	L	0.37800	1.135	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.66412	-0.5930	10	0.10377	T	0.69	-8.6355	20.3736	0.98901	0.0:1.0:0.0:0.0	.	502	O43865	SAHH2_HUMAN	V	502;455;455	ENSP00000358814:A502V;ENSP00000352092:A455V;ENSP00000377238:A455V	ENSP00000352092:A455V	A	+	2	0	AHCYL1	110364915	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.794000	0.85869	2.820000	0.97059	0.650000	0.86243	GCC		0.433	AHCYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032243.1			4	153	0	0	0	1	0	4	153				
TRAJ53	28702	broad.mit.edu	37	14	22951915	22951915	+	RNA	SNP	G	G	A			TCGA-V1-A9ZR-01A-11D-A41K-08	TCGA-V1-A9ZR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1161c64b-4a41-4fce-a9d4-73d4f091c044	a78aaabf-765f-422c-80b1-597ef3a0c26d	g.chr14:22951915G>A	ENST00000390485.1	+	0	0				TRAJ54_ENST00000390484.1_RNA|AE000661.37_ENST00000556777.1_RNA|AE000661.37_ENST00000514473.2_RNA					T cell receptor alpha joining 53																		TTGAGCAATCGTGACTATATT	0.443																																						ENST00000514473.2																			0																																																			0							g.chr14:22951915G>A	M94081		14q11.2	2012-02-07			ENSG00000211837	ENSG00000211837		"""T cell receptors / TRA locus"""	12085	other	T cell receptor gene						8188290	Standard	NG_001332		Approved				OTTHUMG00000170914		14.37:g.22951915G>A														0	33	-									RNA	SNP	ENST00000390485.1	37																																																																																						0.443	TRAJ53-001	KNOWN	mRNA_start_NF|mRNA_end_NF|cds_start_NF|cds_end_NF|basic|appris_principal	TR_J_gene	TR_J_gene	OTTHUMT00000410945.1	NG_001332		3	14	0	0	0	1	0	3	14				
C6orf89	221477	broad.mit.edu	37	6	36887390	36887390	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A9ZR-01A-11D-A41K-08	TCGA-V1-A9ZR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1161c64b-4a41-4fce-a9d4-73d4f091c044	a78aaabf-765f-422c-80b1-597ef3a0c26d	g.chr6:36887390G>A	ENST00000480824.2	+	8	1156	c.862G>A	c.(862-864)Ggt>Agt	p.G288S	C6orf89_ENST00000510325.2_Missense_Mutation_p.G182S|C6orf89_ENST00000355190.3_Missense_Mutation_p.G295S|C6orf89_ENST00000373685.1_Missense_Mutation_p.G288S|C6orf89_ENST00000359359.2_Missense_Mutation_p.G182S			Q6UWU4	CF089_HUMAN	chromosome 6 open reading frame 89	288					epithelial cell proliferation (GO:0050673)|positive regulation of cell cycle (GO:0045787)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	15						CATTGGCAGCGGTGAGGCCAT	0.512																																						ENST00000480824.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	15						c.(862-864)Ggt>Agt		chromosome 6 open reading frame 89							125.0	111.0	116.0					6																	36887390		2203	4300	6503	SO:0001583	missense	221477					integral to membrane		g.chr6:36887390G>A	AK058086	CCDS4827.1, CCDS69100.1, CCDS75444.1	6p21.31	2013-03-14			ENSG00000198663	ENSG00000198663			21114	protein-coding gene	gene with protein product	"""bombesin receptor activated protein"""					21857995, 23460338	Standard	NM_152734		Approved	FLJ25357, BRAP	uc003omw.3	Q6UWU4	OTTHUMG00000014613	ENST00000480824.2:c.862G>A	6.37:g.36887390G>A	ENSP00000475947:p.Gly288Ser					C6orf89_ENST00000510325.2_Missense_Mutation_p.G182S|C6orf89_ENST00000373685.1_Missense_Mutation_p.G288S|C6orf89_ENST00000355190.3_Missense_Mutation_p.G295S|C6orf89_ENST00000359359.2_Missense_Mutation_p.G182S	p.G288S			Q6UWU4	CF089_HUMAN			8	1156	+			288					B4DTT1|F4NAR0|F4NAR1|Q6ZMG5|Q7Z356|Q8IZ35	Missense_Mutation	SNP	ENST00000480824.2	37	c.862G>A		.	.	.	.	.	.	.	.	.	.	G	21.9	4.209424	0.79240	.	.	ENSG00000198663	ENST00000359359;ENST00000510325;ENST00000355190;ENST00000373685	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.74230	0.3689	M	0.66939	2.045	0.52099	D	0.999948	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.75297	-0.3367	9	0.87932	D	0	-0.1201	16.3795	0.83443	0.0:0.0:1.0:0.0	.	288;295	Q6UWU4;Q6UWU4-2	CF089_HUMAN;.	S	182;182;295;288	.	ENSP00000347322:G295S	G	+	1	0	C6orf89	36995368	0.991000	0.36638	0.833000	0.33012	0.426000	0.31534	4.411000	0.59781	2.941000	0.99782	0.655000	0.94253	GGT		0.512	C6orf89-004	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000040387.2	NM_152734		35	67	0	0	0	1	0	35	67				
KBTBD4	55709	broad.mit.edu	37	11	47599133	47599133	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9ZR-01A-11D-A41K-08	TCGA-V1-A9ZR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1161c64b-4a41-4fce-a9d4-73d4f091c044	a78aaabf-765f-422c-80b1-597ef3a0c26d	g.chr11:47599133C>T	ENST00000526005.1	-	2	572	c.419G>A	c.(418-420)cGc>cAc	p.R140H	KBTBD4_ENST00000525720.1_Missense_Mutation_p.R189H|NDUFS3_ENST00000263774.4_5'Flank|NDUFS3_ENST00000534716.2_5'Flank|NDUFS3_ENST00000533507.1_Intron|KBTBD4_ENST00000533290.1_Missense_Mutation_p.R165H|KBTBD4_ENST00000430070.2_Missense_Mutation_p.R156H|NDUFS3_ENST00000529276.1_5'Flank|NDUFS3_ENST00000534208.1_5'Flank|NDUFS3_ENST00000528192.1_5'Flank|RNU5E-10P_ENST00000363506.1_RNA|KBTBD4_ENST00000395288.2_Missense_Mutation_p.R140H|KBTBD4_ENST00000450908.1_5'Flank			Q9NVX7	KBTB4_HUMAN	kelch repeat and BTB (POZ) domain containing 4	140								p.R140H(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	24						TTGCACTGTGCGGGCCAAAAA	0.517																																						ENST00000533290.1																			2	Substitution - Missense(2)	p.R140H(2)	large_intestine(1)|lung(1)	NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	24						c.(493-495)cGc>cAc		kelch repeat and BTB (POZ) domain containing 4							174.0	172.0	173.0					11																	47599133		2201	4298	6499	SO:0001583	missense	55709							g.chr11:47599133C>T	AF151086	CCDS7940.1, CCDS44594.1	11p11.2	2013-01-08	2003-12-12	2003-12-17	ENSG00000123444	ENSG00000123444		"""BTB/POZ domain containing"""	23761	protein-coding gene	gene with protein product			"""BTB and kelch domain containing 4"""	BKLHD4		11042152	Standard	NM_018095		Approved	FLJ10450, HSPC252	uc001nfz.3	Q9NVX7	OTTHUMG00000166894	ENST00000526005.1:c.419G>A	11.37:g.47599133C>T	ENSP00000433340:p.Arg140His					KBTBD4_ENST00000526005.1_Missense_Mutation_p.R140H|KBTBD4_ENST00000525720.1_Missense_Mutation_p.R189H|KBTBD4_ENST00000430070.2_Missense_Mutation_p.R156H|KBTBD4_ENST00000395288.2_Missense_Mutation_p.R140H|NDUFS3_ENST00000533507.1_Intron	p.R165H			Q9NVX7	KBTB4_HUMAN			1	1208	-			140			BACK.		D3DQS1|D3DQS2|Q6IA85|Q9BUC3|Q9NV76	Missense_Mutation	SNP	ENST00000526005.1	37	c.494G>A	CCDS7940.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.5|27.5	4.836560|4.836560	0.91117|0.91117	.|.	.|.	ENSG00000123444|ENSG00000123444	ENST00000359900|ENST00000526005;ENST00000533290;ENST00000395288;ENST00000430070;ENST00000525720;ENST00000529499;ENST00000531067;ENST00000529946;ENST00000534239	.|T;T;T;T;T;T;T;T;T	.|0.73047	.|-0.64;-0.71;-0.64;-0.7;-0.57;-0.57;-0.57;-0.57;-0.57	5.4|5.4	5.4|5.4	0.78164|0.78164	.|BTB/POZ-like (1);BTB/POZ fold (2);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.82591|0.82591	0.5070|0.5070	L|L	0.60067|0.60067	1.865|1.865	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|0.999;1.0;1.0	.|D;D;D	.|0.81914	.|0.991;0.995;0.995	D|D	0.83844|0.83844	0.0259|0.0259	6|10	0.02654|0.72032	T|D	1|0.01	-17.6736|-17.6736	19.1652|19.1652	0.93553|0.93553	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|156;140;165	.|Q9NVX7-2;Q9NVX7;B3KRH9	.|.;KBTB4_HUMAN;.	T|H	155|140;165;140;156;189;140;140;140;165	.|ENSP00000433340:R140H;ENSP00000436713:R165H;ENSP00000378703:R140H;ENSP00000415106:R156H;ENSP00000434477:R189H;ENSP00000433404:R140H;ENSP00000433653:R140H;ENSP00000435651:R140H;ENSP00000433124:R165H	ENSP00000352971:A155T|ENSP00000378703:R140H	A|R	-|-	1|2	0|0	KBTBD4|KBTBD4	47555709|47555709	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.487000|7.487000	0.81328|0.81328	2.520000|2.520000	0.84964|0.84964	0.462000|0.462000	0.41574|0.41574	GCA|CGC		0.517	KBTBD4-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000391763.1	NM_016506		4	148	0	0	0	1	0	4	148				
ARHGEF28	64283	broad.mit.edu	37	5	73183506	73183506	+	Splice_Site	DEL	T	T	-			TCGA-V1-A9ZR-01A-11D-A41K-08	TCGA-V1-A9ZR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1161c64b-4a41-4fce-a9d4-73d4f091c044	a78aaabf-765f-422c-80b1-597ef3a0c26d	g.chr5:73183506delT	ENST00000426542.2	+	25	3407		c.e25+2		ARHGEF28_ENST00000513042.2_Splice_Site|ARHGEF28_ENST00000545377.1_Splice_Site|ARHGEF28_ENST00000512883.1_Splice_Site|ARHGEF28_ENST00000437974.1_Splice_Site|ARHGEF28_ENST00000296799.4_Splice_Site|ARHGEF28_ENST00000287898.5_Splice_Site|ARHGEF28_ENST00000296794.6_Splice_Site			Q8N1W1	ARG28_HUMAN	Rho guanine nucleotide exchange factor (GEF) 28						central nervous system neuron axonogenesis (GO:0021955)|intracellular signal transduction (GO:0035556)|neurofilament cytoskeleton organization (GO:0060052)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|RNA binding (GO:0003723)										GCAGCCGTTGTAAGTATATGA	0.308																																						ENST00000545377.1																			0											c.e26+2		Rho guanine nucleotide exchange factor (GEF) 28							70.0	62.0	65.0					5																	73183506		1806	4071	5877	SO:0001630	splice_region_variant	64283							g.chr5:73183506delT		CCDS47231.1, CCDS47231.2, CCDS54870.1, CCDS58957.1	5q13.2	2012-08-08			ENSG00000214944	ENSG00000214944			30322	protein-coding gene	gene with protein product		612790				9199174, 11058585	Standard	NM_001177693		Approved	RGNEF, p190RhoGEF, RIP2	uc010izf.3	Q8N1W1	OTTHUMG00000162454	ENST00000426542.2:c.3387+2T>-	5.37:g.73183506delT						ARHGEF28_ENST00000296799.4_Splice_Site|ARHGEF28_ENST00000426542.2_Splice_Site|ARHGEF28_ENST00000513042.2_Splice_Site|ARHGEF28_ENST00000287898.5_Splice_Site|ARHGEF28_ENST00000296794.6_Splice_Site|ARHGEF28_ENST00000437974.1_Splice_Site|ARHGEF28_ENST00000512883.1_Splice_Site		NM_001080479.2	NP_001073948.2					26	3563	+								B2RXG7|B4E3K4|B5MDA3|B7ZW32|E9PC75|Q8NCM7|Q96E37|Q9H6L3|Q9H6W0	Splice_Site	DEL	ENST00000426542.2	37		CCDS54870.1																																																																																				0.308	ARHGEF28-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000368975.1		Intron	2	4						2	4	---	---	---	---
SUDS3P1	285647	broad.mit.edu	37	5	177398373	177398396	+	RNA	DEL	AGGACGAAGAGCTGGAGAGCGCCA	AGGACGAAGAGCTGGAGAGCGCCA	-	rs548039666|rs70994948|rs71585660|rs568597025|rs535774316	byFrequency	TCGA-V1-A9ZR-01A-11D-A41K-08	TCGA-V1-A9ZR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1161c64b-4a41-4fce-a9d4-73d4f091c044	a78aaabf-765f-422c-80b1-597ef3a0c26d	g.chr5:177398373_177398396delAGGACGAAGAGCTGGAGAGCGCCA	ENST00000511650.1	+	0	145																											GTCCCCGGGGAGGACGAAGAGCTGGAGAGCGCCAAGGACGACGA	0.683														1220	0.24361	0.2678	0.3372	5008	,	,		15351	0.1548		0.2674	False		,,,				2504	0.2117					ENST00000511650.1																			0																																																			0							g.chr5:177398373_177398396delAGGACGAAGAGCTGGAGAGCGCCA																													5.37:g.177398373_177398396delAGGACGAAGAGCTGGAGAGCGCCA														0	145	+									RNA	DEL	ENST00000511650.1	37																																																																																						0.683	RP11-1252I4.2-001	KNOWN	basic	antisense	antisense	OTTHUMT00000373553.1			2	4						2	4	---	---	---	---
KIF13B	23303	broad.mit.edu	37	8	28928273	28928273	+	Frame_Shift_Del	DEL	G	G	-			TCGA-V1-A9ZR-01A-11D-A41K-08	TCGA-V1-A9ZR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1161c64b-4a41-4fce-a9d4-73d4f091c044	a78aaabf-765f-422c-80b1-597ef3a0c26d	g.chr8:28928273delG	ENST00000524189.1	-	40	5267	c.5229delC	c.(5227-5229)gacfs	p.D1743fs	CTD-2647L4.5_ENST00000560714.1_RNA|KIF13B_ENST00000404075.3_Frame_Shift_Del_p.D262fs	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	1743	CAP-Gly. {ECO:0000255|PROSITE- ProRule:PRU00045}.				metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein targeting (GO:0006605)|regulation of axonogenesis (GO:0050770)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	axon (GO:0030424)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		CGATGGAACCGTCATTCTTAC	0.672																																						ENST00000524189.1																			0				endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28						c.(5227-5229)gafs		kinesin family member 13B							13.0	15.0	15.0					8																	28928273		1954	4081	6035	SO:0001589	frameshift_variant	23303				microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding	g.chr8:28928273delG	AB014539	CCDS55217.1	8p21	2008-07-30				ENSG00000197892		"""Kinesins"""	14405	protein-coding gene	gene with protein product		607350				9734811, 10859302, 16864656	Standard	NM_015254		Approved	GAKIN, KIAA0639	uc003xhh.4	Q9NQT8		ENST00000524189.1:c.5229delC	8.37:g.28928273delG	ENSP00000427900:p.Asp1743fs					KIF13B_ENST00000404075.3_Frame_Shift_Del_p.D262fs	p.D1743fs	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)	40	5267	-		Ovarian(32;0.000536)	1743			CAP-Gly.		B4DGY5|B5MC45|F8VPJ2|O75134|Q9BYJ6	Frame_Shift_Del	DEL	ENST00000524189.1	37	c.5229delC	CCDS55217.1																																																																																				0.672	KIF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376878.1			2	4						2	4	---	---	---	---
IGHV4OR15-8	28317	broad.mit.edu	37	15	22473095	22473096	+	RNA	INS	-	-	G	rs377032678		TCGA-V1-A9ZR-01A-11D-A41K-08	TCGA-V1-A9ZR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1161c64b-4a41-4fce-a9d4-73d4f091c044	a78aaabf-765f-422c-80b1-597ef3a0c26d	g.chr15:22473095_22473096insG	ENST00000557788.2	-	0	174_175							A6NJ16	IV4F8_HUMAN	immunoglobulin heavy variable 4/OR15-8 (non-functional)							extracellular region (GO:0005576)											CCCTGGGGGCTGGCGGACCCAG	0.594																																						ENST00000557788.2																			0																																																			0							g.chr15:22473095_22473096insG	Z29598		15q11.2	2012-02-20	2008-09-15		ENSG00000259261	ENSG00000259261		"""Immunoglobulins / IGH orphons"""	5658	other	immunoglobulin gene			"""immunoglobulin heavy variable 4/OR15-8"", ""V-set and immunoglobulin domain containing 6"""	VSIG6		7951227	Standard			Approved	IGHV4/OR15-8, IGHV4OR158		A6NJ16	OTTHUMG00000171934		15.37:g.22473097_22473097dupG														0	174_175	-									RNA	INS	ENST00000557788.2	37																																																																																						0.594	IGHV4OR15-8-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000415968.2			8	241						8	241	---	---	---	---
CDC27	996	broad.mit.edu	37	17	45219612	45219612	+	Frame_Shift_Del	DEL	A	A	-			TCGA-V1-A9ZR-01A-11D-A41K-08	TCGA-V1-A9ZR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1161c64b-4a41-4fce-a9d4-73d4f091c044	a78aaabf-765f-422c-80b1-597ef3a0c26d	g.chr17:45219612delA	ENST00000066544.3	-	11	1454	c.1361delT	c.(1360-1362)ctafs	p.L454fs	CDC27_ENST00000527547.1_Frame_Shift_Del_p.L454fs|CDC27_ENST00000531206.1_Frame_Shift_Del_p.L460fs|CDC27_ENST00000446365.2_Frame_Shift_Del_p.L393fs	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	454					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TGCTTTTTGTAGATTAAAGGC	0.308																																						ENST00000066544.3																			0				NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						c.(1360-1362)cafs		cell division cycle 27							30.0	30.0	30.0					17																	45219612		2201	4295	6496	SO:0001589	frameshift_variant	996				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	g.chr17:45219612delA	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.1361delT	17.37:g.45219612delA	ENSP00000066544:p.Leu454fs					CDC27_ENST00000446365.2_Frame_Shift_Del_p.L393fs|CDC27_ENST00000527547.1_Frame_Shift_Del_p.L454fs|CDC27_ENST00000531206.1_Frame_Shift_Del_p.L460fs	p.L454fs	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN			11	1454	-			454					G3V1C4|Q16349|Q96F35	Frame_Shift_Del	DEL	ENST00000066544.3	37	c.1361delT	CCDS11509.1																																																																																				0.308	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			8	54						8	54	---	---	---	---
ERF	2077	broad.mit.edu	37	19	42754061	42754061	+	Frame_Shift_Del	DEL	G	G	-			TCGA-V1-A9ZR-01A-11D-A41K-08	TCGA-V1-A9ZR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1161c64b-4a41-4fce-a9d4-73d4f091c044	a78aaabf-765f-422c-80b1-597ef3a0c26d	g.chr19:42754061delG	ENST00000222329.4	-	3	448	c.291delC	c.(289-291)accfs	p.T97fs	ERF_ENST00000595941.1_5'Flank|AC006486.9_ENST00000594664.1_Intron|ERF_ENST00000440177.2_Frame_Shift_Del_p.T22fs	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN	Ets2 repressor factor	97					cell cycle (GO:0007049)|cell differentiation (GO:0030154)|chorio-allantoic fusion (GO:0060710)|ectodermal cell differentiation (GO:0010668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)|trophoblast giant cell differentiation (GO:0060707)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				GTTTCCCCTTGGTCTTGTGCA	0.483																																						ENST00000222329.4																			0				central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17						c.(289-291)acfs		Ets2 repressor factor							334.0	292.0	306.0					19																	42754061		2203	4300	6503	SO:0001589	frameshift_variant	2077				cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr19:42754061delG	U58535	CCDS12600.1	19q13	2008-07-16				ENSG00000105722			3444	protein-coding gene	gene with protein product	"""Ets2 repressor factor"""	611888				7588608, 9192842	Standard	XM_005258644		Approved	PE-2, PE2	uc002ote.4	P50548		ENST00000222329.4:c.291delC	19.37:g.42754061delG	ENSP00000222329:p.Thr97fs					ERF_ENST00000440177.2_Frame_Shift_Del_p.T22fs|AC006486.9_ENST00000594664.1_Intron	p.T97fs	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN			3	448	-		Prostate(69;0.00682)	97					B2RAP1|B7Z4R0|Q59G38|Q9UPI7	Frame_Shift_Del	DEL	ENST00000222329.4	37	c.291delC	CCDS12600.1																																																																																				0.483	ERF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463684.1	NM_006494		34	108						34	108	---	---	---	---
