#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
SNHG23	100507242	broad.mit.edu	37	14	101423566	101423566	+	lincRNA	SNP	G	G	A			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr14:101423566G>A	ENST00000556637.1	+	0	464				SNORD114-6_ENST00000364393.1_RNA|SNORD114-5_ENST00000362928.1_RNA|SNORD114-4_ENST00000363962.1_RNA|SNORD113_ENST00000363280.1_RNA																							CTGGAACTCTGAGGTCCAAGA	0.333																																						ENST00000556637.1																			0																				66.0	63.0	64.0					14																	101423566		876	1991	2867			0							g.chr14:101423566G>A																													14.37:g.101423566G>A						SNORD114-6_ENST00000364393.1_RNA								0	464	+									RNA	SNP	ENST00000556637.1	37																																																																																						0.333	AL132709.5-004	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000414510.1			5	31	0	0	0	1	0	5	31				
KAT6A	7994	broad.mit.edu	37	8	41790659	41790659	+	Silent	SNP	T	T	G			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr8:41790659T>G	ENST00000396930.3	-	18	5622	c.5079A>C	c.(5077-5079)ccA>ccC	p.P1693P	KAT6A_ENST00000265713.2_Silent_p.P1693P|KAT6A_ENST00000406337.1_Silent_p.P1693P	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	1693	Gln/Pro-rich.|Interaction with PML.				aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										ggggagggggtgggggtggag	0.627																																						ENST00000396930.3																			0											c.(5077-5079)ccA>ccC		K(lysine) acetyltransferase 6A							16.0	18.0	18.0					8																	41790659		2196	4293	6489	SO:0001819	synonymous_variant	7994				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr8:41790659T>G	U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	13013	protein-coding gene	gene with protein product	"""Monocytic leukemia zinc finger protein"""	601408	"""runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3"""	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.5079A>C	8.37:g.41790659T>G						KAT6A_ENST00000265713.2_Silent_p.P1693P|KAT6A_ENST00000406337.1_Silent_p.P1693P	p.P1693P	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN			18	5622	-			1693			Gln/Pro-rich.		Q76L81	Silent	SNP	ENST00000396930.3	37	c.5079A>C	CCDS6124.1																																																																																				0.627	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		5	13	0	0	0	1	0	5	13				
PRMT8	56341	broad.mit.edu	37	12	3649787	3649787	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr12:3649787T>C	ENST00000382622.3	+	2	481	c.91T>C	c.(91-93)Tcc>Ccc	p.S31P	PRMT8_ENST00000452611.2_Missense_Mutation_p.S22P|PRMT8_ENST00000261252.4_3'UTR	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	31					histone arginine methylation (GO:0034969)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|regulation of protein binding (GO:0043393)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	histone methyltransferase activity (H4-R3 specific) (GO:0044020)|histone-arginine N-methyltransferase activity (GO:0008469)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			CAGCCCCCCCTCCCAGCCCCC	0.652																																						ENST00000382622.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37						c.(91-93)Tcc>Ccc		protein arginine methyltransferase 8							41.0	51.0	47.0					12																	3649787		2199	4299	6498	SO:0001583	missense	56341				regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity	g.chr12:3649787T>C	AF263539	CCDS8521.2, CCDS58200.1	12p13.3	2006-03-03	2006-02-16	2006-02-16	ENSG00000111218	ENSG00000111218		"""Protein arginine methyltransferases"""	5188	protein-coding gene	gene with protein product		610086	"""HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae)"", ""HMT1 hnRNP methyltransferase-like 4 (S. cerevisiae)"""	HRMT1L3, HRMT1L4		16051612	Standard	NM_019854		Approved		uc001qmf.4	Q9NR22	OTTHUMG00000128493	ENST00000382622.3:c.91T>C	12.37:g.3649787T>C	ENSP00000372067:p.Ser31Pro					PRMT8_ENST00000261252.4_3'UTR|PRMT8_ENST00000452611.2_Missense_Mutation_p.S22P	p.S31P	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)		2	481	+			31					B2RDP0|Q8TBJ8	Missense_Mutation	SNP	ENST00000382622.3	37	c.91T>C	CCDS8521.2	.	.	.	.	.	.	.	.	.	.	T	15.44	2.834665	0.50951	.	.	ENSG00000111218	ENST00000452611;ENST00000382622	T;T	0.30182	1.65;1.54	5.52	-6.61	0.01818	.	0.606566	0.17318	N	0.178612	T	0.16171	0.0389	L	0.43152	1.355	0.28544	N	0.911948	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.09997	-1.0649	10	0.29301	T	0.29	.	3.8844	0.09091	0.1085:0.1587:0.4822:0.2506	.	22;31	Q9NR22-2;Q9NR22	.;ANM8_HUMAN	P	22;31	ENSP00000414507:S22P;ENSP00000372067:S31P	ENSP00000372067:S31P	S	+	1	0	PRMT8	3520048	0.000000	0.05858	0.001000	0.08648	0.946000	0.59487	-0.825000	0.04433	-0.996000	0.03455	0.460000	0.39030	TCC		0.652	PRMT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250297.2	NM_019854		11	110	0	0	0	1	0	11	110				
SCUBE1	80274	broad.mit.edu	37	22	43606074	43606074	+	Silent	SNP	G	G	A			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr22:43606074G>A	ENST00000360835.4	-	19	2682	c.2556C>T	c.(2554-2556)ggC>ggT	p.G852G	Z82214.3_ENST00000420269.1_RNA	NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	852	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|post-embryonic development (GO:0009791)|protein homooligomerization (GO:0051260)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				CCAGAACATCGCCGCACTCAT	0.632																																						ENST00000360835.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(2554-2556)ggC>ggT		signal peptide, CUB domain, EGF-like 1							104.0	84.0	91.0					22																	43606074		2203	4300	6503	SO:0001819	synonymous_variant	80274				adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity	g.chr22:43606074G>A		CCDS14048.1	22q13	2008-07-01			ENSG00000159307	ENSG00000159307			13441	protein-coding gene	gene with protein product		611746				11087664	Standard	NM_173050		Approved		uc003bdt.2	Q8IWY4	OTTHUMG00000150679	ENST00000360835.4:c.2556C>T	22.37:g.43606074G>A							p.G852G	NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN			19	2682	-		all_neural(38;0.0414)|Ovarian(80;0.07)	852			CUB.		Q5R336	Silent	SNP	ENST00000360835.4	37	c.2556C>T	CCDS14048.1																																																																																				0.632	SCUBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319582.3	NM_173050		45	14	0	0	0	1	0	45	14				
RIMS1	22999	broad.mit.edu	37	6	72967911	72967911	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr6:72967911C>T	ENST00000521978.1	+	17	2854	c.2854C>T	c.(2854-2856)Cgt>Tgt	p.R952C	RIMS1_ENST00000523963.1_Missense_Mutation_p.R426C|RIMS1_ENST00000264839.7_Missense_Mutation_p.R952C|RIMS1_ENST00000425662.2_Missense_Mutation_p.R345C|RIMS1_ENST00000538414.1_5'UTR|RIMS1_ENST00000348717.5_Missense_Mutation_p.R951C|RIMS1_ENST00000517960.1_Missense_Mutation_p.R951C|RIMS1_ENST00000518273.1_Missense_Mutation_p.R952C|RIMS1_ENST00000517827.1_Missense_Mutation_p.R411C|RIMS1_ENST00000520567.1_Missense_Mutation_p.R951C|RIMS1_ENST00000401910.3_Missense_Mutation_p.R425C|RIMS1_ENST00000491071.2_Missense_Mutation_p.R952C|RIMS1_ENST00000522291.1_Missense_Mutation_p.R951C	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	952					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				TCACCGCTCACGTTCAGTATC	0.463																																						ENST00000264839.7																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102						c.(2854-2856)Cgt>Tgt		regulating synaptic membrane exocytosis 1							93.0	89.0	90.0					6																	72967911		1994	4171	6165	SO:0001583	missense	0				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr6:72967911C>T	AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.2854C>T	6.37:g.72967911C>T	ENSP00000428417:p.Arg952Cys					RIMS1_ENST00000520567.1_Missense_Mutation_p.R951C|RIMS1_ENST00000518273.1_Missense_Mutation_p.R952C|RIMS1_ENST00000517960.1_Missense_Mutation_p.R951C|RIMS1_ENST00000491071.2_Missense_Mutation_p.R952C|RIMS1_ENST00000425662.2_Missense_Mutation_p.R345C|RIMS1_ENST00000522291.1_Missense_Mutation_p.R951C|RIMS1_ENST00000401910.3_Missense_Mutation_p.R425C|RIMS1_ENST00000348717.5_Missense_Mutation_p.R951C|RIMS1_ENST00000538414.1_5'UTR|RIMS1_ENST00000523963.1_Missense_Mutation_p.R426C|RIMS1_ENST00000517827.1_Missense_Mutation_p.R411C|RIMS1_ENST00000521978.1_Missense_Mutation_p.R952C	p.R952C			Q86UR5	RIMS1_HUMAN			17	2854	+		all_epithelial(107;0.179)|all_hematologic(105;0.212)	952					A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Missense_Mutation	SNP	ENST00000521978.1	37	c.2854C>T	CCDS47449.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.8|28.8	4.952439|4.952439	0.92660|0.92660	.|.	.|.	ENSG00000079841|ENSG00000079841	ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000349908;ENST00000346609;ENST00000264839;ENST00000517960;ENST00000518273;ENST00000520567;ENST00000522291;ENST00000521978;ENST00000401910;ENST00000523963;ENST00000425662;ENST00000453976;ENST00000517827;ENST00000370420|ENST00000517433	T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.27557|.	1.88;2.23;2.0;2.23;2.06;1.97;2.07;1.76;1.9;2.02;2.23;2.19;2.19;1.66|.	5.19|5.19	5.19|5.19	0.71726|0.71726	.|.	0.000000|.	0.64402|.	D|.	0.000016|.	T|T	0.65923|0.65923	0.2738|0.2738	L|L	0.60455|0.60455	1.87|1.87	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0;1.0;0.999;1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D;D;P;D;D;D;D;D|.	0.91635|.	0.95;0.985;0.997;0.997;0.932;0.999;0.505;0.962;0.988;0.991;0.997;0.997|.	T|T	0.63910|0.63910	-0.6530|-0.6530	10|5	0.87932|.	D|.	0|.	-14.3502|-14.3502	18.729|18.729	0.91728|0.91728	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	411;426;952;411;425;951;204;952;951;205;952;952|.	B7Z3S3;E9PHF5;E9PHR1;B7Z9Z3;E9PF48;E7EX08;Q5JY22;E7ERQ1;E7ENC2;Q5JY21;C9JNW6;Q86UR5|.	.;.;.;.;.;.;.;.;.;.;.;RIMS1_HUMAN|.	C|M	952;952;952;951;952;951;952;951;952;951;951;952;425;426;345;345;411;177|525	ENSP00000430101:R952C;ENSP00000275037:R951C;ENSP00000264839:R952C;ENSP00000429959:R951C;ENSP00000430408:R952C;ENSP00000430502:R951C;ENSP00000430932:R951C;ENSP00000428417:R952C;ENSP00000385649:R425C;ENSP00000428328:R426C;ENSP00000411235:R345C;ENSP00000389503:R345C;ENSP00000428367:R411C;ENSP00000359448:R177C|.	ENSP00000264839:R952C|.	R|T	+|+	1|2	0|0	RIMS1|RIMS1	73024632|73024632	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.893000|0.893000	0.52053|0.52053	7.607000|7.607000	0.82883|0.82883	2.434000|2.434000	0.82447|0.82447	0.585000|0.585000	0.79938|0.79938	CGT|ACG		0.463	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1			12	18	0	0	0	1	0	12	18				
RYR3	6263	broad.mit.edu	37	15	34040420	34040420	+	Missense_Mutation	SNP	C	C	T	rs368235252		TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr15:34040420C>T	ENST00000389232.4	+	54	8165	c.8095C>T	c.(8095-8097)Cgg>Tgg	p.R2699W	RYR3_ENST00000415757.3_Missense_Mutation_p.R2699W	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2699	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GGTTCAACAGCGGGAAAATGA	0.567																																						ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(8095-8097)Cgg>Tgg		ryanodine receptor 3		C	TRP/ARG	0,3908		0,0,1954	71.0	78.0	76.0		8095	2.2	1.0	15		76	1,8299		0,1,4149	no	missense	RYR3	NM_001036.3	101	0,1,6103	TT,TC,CC		0.012,0.0,0.0082	probably-damaging	2699/4871	34040420	1,12207	1954	4150	6104	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34040420C>T		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.8095C>T	15.37:g.34040420C>T	ENSP00000373884:p.Arg2699Trp					RYR3_ENST00000415757.3_Missense_Mutation_p.R2699W	p.R2699W	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	54	8165	+		all_lung(180;7.18e-09)	2699			4 X approximate repeats.		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.8095C>T	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	C	17.20	3.329750	0.60743	0.0	1.2E-4	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.97016	-4.21;-4.21	5.18	2.17	0.27698	.	0.000000	0.85682	D	0.000000	D	0.96059	0.8716	L	0.38175	1.15	0.58432	D	0.999991	D;D	0.89917	1.0;0.999	D;P	0.63113	0.911;0.854	D	0.95249	0.8358	10	0.87932	D	0	.	13.9246	0.63955	0.5451:0.4549:0.0:0.0	.	2699;2699	Q15413-2;Q15413	.;RYR3_HUMAN	W	2699	ENSP00000373884:R2699W;ENSP00000399610:R2699W	ENSP00000354735:R2699W	R	+	1	2	RYR3	31827712	0.974000	0.33945	0.994000	0.49952	0.955000	0.61496	0.143000	0.16115	0.290000	0.22444	-0.953000	0.02652	CGG		0.567	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			4	70	0	0	0	1	0	4	70				
FUT10	84750	broad.mit.edu	37	8	33246920	33246920	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr8:33246920T>C	ENST00000327671.5	-	4	1404	c.773A>G	c.(772-774)aAt>aGt	p.N258S	FUT10_ENST00000518672.1_Missense_Mutation_p.N230S|FUT10_ENST00000524021.1_Missense_Mutation_p.N230S|FUT10_ENST00000518076.1_5'UTR|FUT10_ENST00000335589.3_Missense_Mutation_p.N196S	NM_032664.3	NP_116053.3	Q6P4F1	FUT10_HUMAN	fucosyltransferase 10 (alpha (1,3) fucosyltransferase)	258					embryo development (GO:0009790)|fertilization (GO:0009566)|fucosylation (GO:0036065)|hemopoiesis (GO:0030097)|L-fucose catabolic process (GO:0042355)|nervous system development (GO:0007399)|protein folding (GO:0006457)|protein glycosylation (GO:0006486)|protein targeting (GO:0006605)|wound healing (GO:0042060)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)			cervix(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	29				KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154)		AGAGGCTGGATTTTTCAGCTG	0.438																																						ENST00000327671.5																			0				cervix(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	29						c.(772-774)aAt>aGt		fucosyltransferase 10 (alpha (1,3) fucosyltransferase)							113.0	105.0	108.0					8																	33246920		2203	4300	6503	SO:0001583	missense	84750				embryo development|fertilization|hemopoiesis|L-fucose catabolic process|nervous system development|protein folding|protein glycosylation|protein targeting|wound healing	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity	g.chr8:33246920T>C	AJ512465	CCDS6088.1	8p12	2013-02-26			ENSG00000172728	ENSG00000172728		"""Fucosyltransferases"""	19234	protein-coding gene	gene with protein product							Standard	NM_032664		Approved		uc003xje.3	Q6P4F1	OTTHUMG00000163954	ENST00000327671.5:c.773A>G	8.37:g.33246920T>C	ENSP00000332757:p.Asn258Ser					FUT10_ENST00000524021.1_Missense_Mutation_p.N230S|FUT10_ENST00000335589.3_Missense_Mutation_p.N196S|FUT10_ENST00000518076.1_5'UTR|FUT10_ENST00000518672.1_Missense_Mutation_p.N230S	p.N258S	NM_032664.3	NP_116053.3	Q6P4F1	FUT10_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154)	4	1404	-			258					A8KAC8|Q70GG3|Q8IVI6|Q8IVI7|Q8IVJ3|Q8TE43|Q9BSR3	Missense_Mutation	SNP	ENST00000327671.5	37	c.773A>G	CCDS6088.1	.	.	.	.	.	.	.	.	.	.	t	8.113	0.779162	0.16120	.	.	ENSG00000172728	ENST00000327671;ENST00000380081;ENST00000518672;ENST00000524021;ENST00000335589	T;T;T;T	0.25250	1.95;1.95;1.95;1.81	4.9	-0.699	0.11277	.	0.114429	0.56097	N	0.000025	T	0.19406	0.0466	M	0.66506	2.035	0.31844	N	0.623131	B;B;B;B;B;B	0.27997	0.197;0.008;0.009;0.008;0.069;0.03	B;B;B;B;B;B	0.26310	0.068;0.026;0.041;0.012;0.029;0.043	T	0.25984	-1.0116	10	0.15499	T	0.54	-0.0752	5.5191	0.16923	0.0:0.2396:0.1468:0.6136	.	308;258;230;196;258;300	B4E056;Q6P4F1-5;Q6P4F1-4;Q6P4F1-3;Q6P4F1;E7EU36	.;.;.;.;FUT10_HUMAN;.	S	258;300;230;230;196	ENSP00000332757:N258S;ENSP00000430428:N230S;ENSP00000429870:N230S;ENSP00000334997:N196S	ENSP00000332757:N258S	N	-	2	0	FUT10	33366462	0.992000	0.36948	0.000000	0.03702	0.567000	0.35839	1.143000	0.31553	-0.282000	0.09128	-0.393000	0.06486	AAT		0.438	FUT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376540.1	NM_032664		59	76	0	0	0	1	0	59	76				
VEZF1	7716	broad.mit.edu	37	17	56060673	56060673	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr17:56060673C>G	ENST00000581208.1	-	2	155	c.115G>C	c.(115-117)Gat>Cat	p.D39H	VEZF1_ENST00000584396.1_Missense_Mutation_p.D30H	NM_007146.2	NP_009077.2	Q14119	VEZF1_HUMAN	vascular endothelial zinc finger 1	39					angiogenesis (GO:0001525)|cellular defense response (GO:0006968)|endothelial cell development (GO:0001885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						GGTTTCTGATCAGGGGGCTCC	0.473																																						ENST00000584396.1																			0				breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						c.(88-90)Gat>Cat		vascular endothelial zinc finger 1							97.0	105.0	102.0					17																	56060673		2203	4300	6503	SO:0001583	missense	7716				cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr17:56060673C>G	D28118	CCDS32687.1	17q22	2012-10-05	2006-08-16	2006-08-16	ENSG00000136451	ENSG00000136451		"""Zinc fingers, C2H2-type"""	12949	protein-coding gene	gene with protein product		606747	"""zinc finger protein 161"""	ZNF161		8035792	Standard	XM_005257643		Approved	DB1	uc002ivf.1	Q14119	OTTHUMG00000178777	ENST00000581208.1:c.115G>C	17.37:g.56060673C>G	ENSP00000462337:p.Asp39His					VEZF1_ENST00000581208.1_Missense_Mutation_p.D39H	p.D30H			Q14119	VEZF1_HUMAN			2	176	-			39						Missense_Mutation	SNP	ENST00000581208.1	37	c.88G>C	CCDS32687.1	.	.	.	.	.	.	.	.	.	.	C	16.42	3.118457	0.56505	.	.	ENSG00000136451	ENST00000258963	.	.	.	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.67543	0.2904	L	0.27053	0.805	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	T	0.68341	-0.5434	9	0.54805	T	0.06	-6.6877	20.1227	0.97969	0.0:1.0:0.0:0.0	.	39	Q14119	VEZF1_HUMAN	H	39	.	ENSP00000258963:D39H	D	-	1	0	VEZF1	53415672	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.480000	0.81109	2.764000	0.94973	0.643000	0.83706	GAT		0.473	VEZF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443321.1			77	87	0	0	0	1	0	77	87				
UNC5B	219699	broad.mit.edu	37	10	73046568	73046568	+	Missense_Mutation	SNP	C	C	G	rs369869150		TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr10:73046568C>G	ENST00000335350.6	+	5	1091	c.675C>G	c.(673-675)tgC>tgG	p.C225W	UNC5B_ENST00000373192.4_Missense_Mutation_p.C225W	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	225	Ig-like C2-type.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						ACTATACCTGCGTGGCCAAGA	0.627																																						ENST00000335350.6																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						c.(673-675)tgC>tgG		unc-5 homolog B (C. elegans)							207.0	194.0	198.0					10																	73046568		2203	4300	6503	SO:0001583	missense	219699				apoptosis|axon guidance|regulation of apoptosis	integral to membrane		g.chr10:73046568C>G	AB096256	CCDS7309.1, CCDS58083.1	10q22.2	2013-01-11	2001-11-28		ENSG00000107731	ENSG00000107731		"""Immunoglobulin superfamily / I-set domain containing"""	12568	protein-coding gene	gene with protein product		607870	"""unc5 (C.elegans homolog) b"""				Standard	NM_170744		Approved	UNC5H2, p53RDL1	uc001jro.3	Q8IZJ1	OTTHUMG00000018422	ENST00000335350.6:c.675C>G	10.37:g.73046568C>G	ENSP00000334329:p.Cys225Trp					UNC5B_ENST00000373192.4_Missense_Mutation_p.C225W	p.C225W	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN			5	1091	+			225			Ig-like C2-type.		Q5T3R9|Q5T3S0|Q86SN3|Q8N1Y2|Q9H9F3	Missense_Mutation	SNP	ENST00000335350.6	37	c.675C>G	CCDS7309.1	.	.	.	.	.	.	.	.	.	.	C	19.30	3.800287	0.70567	.	.	ENSG00000107731	ENST00000335350;ENST00000373192	T;T	0.71341	-0.56;-0.56	5.43	-6.18	0.02085	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.89100	0.6619	H	0.99535	4.615	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90603	0.4546	10	0.87932	D	0	-17.739	16.6775	0.85283	0.0:0.1914:0.0:0.8086	.	225;225	Q8IZJ1-2;Q8IZJ1	.;UNC5B_HUMAN	W	225	ENSP00000334329:C225W;ENSP00000362288:C225W	ENSP00000334329:C225W	C	+	3	2	UNC5B	72716574	0.002000	0.14202	0.948000	0.38648	0.919000	0.55068	-1.406000	0.02490	-1.150000	0.02840	0.561000	0.74099	TGC		0.627	UNC5B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048541.1	NM_170744		7	320	0	0	0	1	0	7	320				
SLC26A2	1836	broad.mit.edu	37	5	149357883	149357883	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr5:149357883G>A	ENST00000286298.4	+	2	936	c.668G>A	c.(667-669)aGc>aAc	p.S223N		NM_000112.3	NP_000103.2	P50443	S26A2_HUMAN	solute carrier family 26 (anion exchanger), member 2	223					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|ion transport (GO:0006811)|ossification (GO:0001503)|small molecule metabolic process (GO:0044281)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			ATGGTTGGCAGCACTGTAACC	0.353																																						ENST00000286298.4																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18						c.(667-669)aGc>aAc		solute carrier family 26 (anion exchanger), member 2							109.0	107.0	108.0					5																	149357883		2203	4300	6503	SO:0001583	missense	1836					integral to plasma membrane|membrane fraction	secondary active sulfate transmembrane transporter activity	g.chr5:149357883G>A	U14528	CCDS4300.1	5q31-q34	2014-09-17	2013-07-18		ENSG00000155850	ENSG00000155850		"""Solute carriers"""	10994	protein-coding gene	gene with protein product		606718	"""solute carrier family 26 (sulfate transporter), member 2"""	DTD		7923357	Standard	NM_000112		Approved	DTDST	uc003lrh.3	P50443	OTTHUMG00000130054	ENST00000286298.4:c.668G>A	5.37:g.149357883G>A	ENSP00000286298:p.Ser223Asn						p.S223N	NM_000112.3	NP_000103.2	P50443	S26A2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		2	936	+			223					A8K2U3|B2R6J1|Q6N051	Missense_Mutation	SNP	ENST00000286298.4	37	c.668G>A	CCDS4300.1	.	.	.	.	.	.	.	.	.	.	G	11.94	1.788130	0.31593	.	.	ENSG00000155850	ENST00000286298;ENST00000503336	D;D	0.95238	-3.4;-3.65	5.64	1.51	0.23008	.	0.252039	0.46145	D	0.000307	D	0.92893	0.7739	M	0.61703	1.905	0.25757	N	0.98499	B	0.33549	0.417	B	0.34652	0.187	T	0.83017	-0.0169	10	0.28530	T	0.3	.	19.1026	0.93279	0.0:0.6203:0.3797:0.0	.	223	P50443	S26A2_HUMAN	N	223;114	ENSP00000286298:S223N;ENSP00000426053:S114N	ENSP00000286298:S223N	S	+	2	0	SLC26A2	149338076	0.997000	0.39634	1.000000	0.80357	0.356000	0.29392	2.430000	0.44766	0.264000	0.21851	-0.150000	0.13652	AGC		0.353	SLC26A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252333.2	NM_000112		44	37	0	0	0	1	0	44	37				
CIB1	10519	broad.mit.edu	37	15	90775542	90775542	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr15:90775542C>A	ENST00000328649.6	-	3	265	c.104G>T	c.(103-105)tGt>tTt	p.C35F	GDPGP1_ENST00000558017.1_5'Flank	NM_006384.3	NP_006375.2	Q99828	CIB1_HUMAN	calcium and integrin binding 1 (calmyrin)	35					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cell division (GO:0051301)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to growth factor stimulus (GO:0071363)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to tumor necrosis factor (GO:0071356)|cytoplasmic microtubule organization (GO:0031122)|double-strand break repair (GO:0006302)|endomitotic cell cycle (GO:0007113)|extrinsic apoptotic signaling pathway (GO:0097191)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of megakaryocyte differentiation (GO:0045653)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|platelet formation (GO:0030220)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of gene expression involved in extracellular matrix organization (GO:1901313)|positive regulation of male germ cell proliferation (GO:2000256)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of cell division (GO:0051302)|regulation of cell proliferation (GO:0042127)|response to ischemia (GO:0002931)|spermatid development (GO:0007286)|thrombopoietin-mediated signaling pathway (GO:0038163)	cell periphery (GO:0071944)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|protein anchor (GO:0043495)|Ras GTPase binding (GO:0017016)			lung(1)|prostate(1)	2	Melanoma(11;0.00551)|Lung NSC(78;0.0141)|all_lung(78;0.0303)		BRCA - Breast invasive adenocarcinoma(143;0.00269)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			AAGCAGCTCACAAAACCGCCT	0.587																																						ENST00000328649.6																			0				lung(1)|prostate(1)	2						c.(103-105)tGt>tTt		calcium and integrin binding 1 (calmyrin)							49.0	48.0	48.0					15																	90775542		2199	4298	6497	SO:0001583	missense	10519				apoptosis|cell adhesion|double-strand break repair	apical plasma membrane|endoplasmic reticulum|filopodium|nucleoplasm	calcium ion binding|protein binding	g.chr15:90775542C>A	U82226	CCDS10360.1, CCDS73781.1	15q25.3-q26	2013-01-10			ENSG00000185043	ENSG00000185043		"""EF-hand domain containing"""	16920	protein-coding gene	gene with protein product		602293				9030514, 10826701	Standard	NM_006384		Approved	SIP2-28, CALMYRIN, CIB, KIP	uc031qtq.1	Q99828	OTTHUMG00000149808	ENST00000328649.6:c.104G>T	15.37:g.90775542C>A	ENSP00000333873:p.Cys35Phe						p.C35F	NM_006384.3	NP_006375.2	Q99828	CIB1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.00269)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)		3	265	-	Melanoma(11;0.00551)|Lung NSC(78;0.0141)|all_lung(78;0.0303)		35					B5BU40|H6WJF3|O00693|O00735|Q6IB49|Q96J54|Q99971	Missense_Mutation	SNP	ENST00000328649.6	37	c.104G>T	CCDS10360.1	.	.	.	.	.	.	.	.	.	.	C	8.365	0.833964	0.16820	.	.	ENSG00000185043	ENST00000328649	T	0.09073	3.02	5.54	3.54	0.40534	EF-hand-like domain (1);	0.296074	0.39687	N	0.001295	T	0.07143	0.0181	L	0.34521	1.04	0.35816	D	0.824264	B	0.27700	0.186	B	0.33690	0.168	T	0.25117	-1.0141	10	0.11485	T	0.65	-6.3598	10.3555	0.43960	0.1513:0.7031:0.1456:0.0	.	35	Q99828	CIB1_HUMAN	F	35	ENSP00000333873:C35F	ENSP00000333873:C35F	C	-	2	0	CIB1	88576546	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	0.553000	0.23391	1.543000	0.49345	0.650000	0.86243	TGT		0.587	CIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313419.1			9	24	1	0	1.2476e-16	1	1.32013e-16	9	24				
HS6ST1	9394	broad.mit.edu	37	2	129026421	129026421	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr2:129026421A>G	ENST00000259241.6	-	2	564	c.551T>C	c.(550-552)cTa>cCa	p.L184P		NM_004807.2	NP_004798.3	O60243	H6ST1_HUMAN	heparan sulfate 6-O-sulfotransferase 1	184					angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|labyrinthine layer blood vessel development (GO:0060716)|lung alveolus development (GO:0048286)|neuron development (GO:0048666)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)	heparan sulfate 6-O-sulfotransferase activity (GO:0017095)|sulfotransferase activity (GO:0008146)			endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.117)		GGGGTCTCGTAGCAGGGTGAT	0.622																																						ENST00000259241.6																			0				endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15						c.(550-552)cTa>cCa		heparan sulfate 6-O-sulfotransferase 1							27.0	28.0	28.0					2																	129026421		2038	4089	6127	SO:0001583	missense	9394				heparan sulfate proteoglycan biosynthetic process, enzymatic modification	integral to plasma membrane	sulfotransferase activity	g.chr2:129026421A>G	AB006179	CCDS42748.1	2q21	2010-03-19		2002-08-23	ENSG00000136720	ENSG00000136720		"""Sulfotransferases, membrane-bound"""	5201	protein-coding gene	gene with protein product		604846		HS6ST		9535912	Standard	NM_004807		Approved		uc002tpt.4	O60243	OTTHUMG00000153542	ENST00000259241.6:c.551T>C	2.37:g.129026421A>G	ENSP00000259241:p.Leu184Pro						p.L184P	NM_004807.2	NP_004798.3	O60243	H6ST1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.117)	2	564	-	Colorectal(110;0.1)		184					B4DEP2|B4DJ29|Q53SL2|Q9BVI1	Missense_Mutation	SNP	ENST00000259241.6	37	c.551T>C	CCDS42748.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.237048	0.79800	.	.	ENSG00000136720	ENST00000259241	T	0.75260	-0.92	4.85	4.85	0.62838	.	0.000000	0.64402	D	0.000001	D	0.88145	0.6358	M	0.89785	3.06	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	D	0.90391	0.4395	9	.	.	.	.	14.4384	0.67298	1.0:0.0:0.0:0.0	.	184	O60243	H6ST1_HUMAN	P	184	ENSP00000259241:L184P	.	L	-	2	0	HS6ST1	128742891	1.000000	0.71417	0.997000	0.53966	0.968000	0.65278	8.936000	0.92931	1.813000	0.52934	0.379000	0.24179	CTA		0.622	HS6ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331572.1	NM_004807		8	57	0	0	0	1	0	8	57				
CDH9	1007	broad.mit.edu	37	5	26881636	26881636	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr5:26881636T>C	ENST00000231021.4	-	12	2151	c.1979A>G	c.(1978-1980)aAc>aGc	p.N660S		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	660					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						GCCTTCATCGTTGTAGGTCAC	0.428																																					Melanoma(8;187 585 15745 40864 52829)	ENST00000231021.4																			0				breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						c.(1978-1980)aAc>aGc		cadherin 9, type 2 (T1-cadherin)							148.0	151.0	150.0					5																	26881636		2203	4300	6503	SO:0001583	missense	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26881636T>C	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.1979A>G	5.37:g.26881636T>C	ENSP00000231021:p.Asn660Ser						p.N660S	NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN			12	2151	-			660					Q3B7I5	Missense_Mutation	SNP	ENST00000231021.4	37	c.1979A>G	CCDS3893.1	.	.	.	.	.	.	.	.	.	.	T	14.45	2.538872	0.45176	.	.	ENSG00000113100	ENST00000231021	T	0.76578	-1.03	4.96	4.96	0.65561	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	D	0.85570	0.5727	M	0.69185	2.1	0.49483	D	0.999799	D;D	0.61080	0.985;0.989	D;D	0.71414	0.973;0.969	D	0.85741	0.1337	9	.	.	.	.	13.7586	0.62952	0.0:0.0:0.0:1.0	.	253;660	B4DFP0;Q9ULB4	.;CADH9_HUMAN	S	660	ENSP00000231021:N660S	.	N	-	2	0	CDH9	26917393	1.000000	0.71417	0.998000	0.56505	0.146000	0.21551	7.964000	0.87933	1.981000	0.57761	0.455000	0.32223	AAC		0.428	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		36	120	0	0	0	1	0	36	120				
GPR45	11250	broad.mit.edu	37	2	105858985	105858985	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr2:105858985A>G	ENST00000258456.1	+	1	786	c.670A>G	c.(670-672)Aag>Gag	p.K224E		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	224						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						CACGGTCCGCAAGAACGCCGT	0.672																																						ENST00000258456.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						c.(670-672)Aag>Gag		G protein-coupled receptor 45							64.0	64.0	64.0					2																	105858985		2203	4300	6503	SO:0001583	missense	11250					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	g.chr2:105858985A>G	AF118266	CCDS2066.1	2q11.1-q12	2012-08-21			ENSG00000135973	ENSG00000135973		"""GPCR / Class A : Orphans"""	4503	protein-coding gene	gene with protein product		604838				10036181	Standard	NM_007227		Approved	PSP24, PSP24A	uc002tco.1	Q9Y5Y3	OTTHUMG00000130805	ENST00000258456.1:c.670A>G	2.37:g.105858985A>G	ENSP00000258456:p.Lys224Glu						p.K224E	NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN			1	786	+			224					Q6NWS4|Q6NXU6	Missense_Mutation	SNP	ENST00000258456.1	37	c.670A>G	CCDS2066.1	.	.	.	.	.	.	.	.	.	.	A	15.85	2.953501	0.53293	.	.	ENSG00000135973	ENST00000258456	T	0.42513	0.97	5.1	5.1	0.69264	GPCR, rhodopsin-like superfamily (1);	0.122949	0.51477	D	0.000086	T	0.36717	0.0977	L	0.42245	1.32	0.31810	N	0.62722	B	0.24132	0.098	B	0.27076	0.076	T	0.47598	-0.9105	10	0.51188	T	0.08	-17.8855	11.2762	0.49168	0.8473:0.1527:0.0:0.0	.	224	Q9Y5Y3	GPR45_HUMAN	E	224	ENSP00000258456:K224E	ENSP00000258456:K224E	K	+	1	0	GPR45	105225417	0.949000	0.32298	0.922000	0.36590	0.966000	0.64601	2.247000	0.43151	1.922000	0.55676	0.379000	0.24179	AAG		0.672	GPR45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253348.1	NM_007227		23	62	0	0	0	1	0	23	62				
TULP4	56995	broad.mit.edu	37	6	158923248	158923248	+	Silent	SNP	G	G	C			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr6:158923248G>C	ENST00000367097.3	+	13	3910	c.2553G>C	c.(2551-2553)ccG>ccC	p.P851P	TULP4_ENST00000367094.2_Intron	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	851					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		CAGCACCCCCGCCCCCTCTGC	0.657																																						ENST00000367097.3																			0				endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(2551-2553)ccG>ccC		tubby like protein 4							5.0	6.0	6.0					6																	158923248		2080	4109	6189	SO:0001819	synonymous_variant	56995				intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:158923248G>C		CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338		"""WD repeat domain containing"""	15530	protein-coding gene	gene with protein product						11595174	Standard	NM_020245		Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.2553G>C	6.37:g.158923248G>C						TULP4_ENST00000367094.2_Intron	p.P851P	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)	13	3910	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)	851					Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Silent	SNP	ENST00000367097.3	37	c.2553G>C	CCDS34561.1																																																																																				0.657	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042869.1	NM_020245		4	9	0	0	0	1	0	4	9				
SEMA3B	7869	broad.mit.edu	37	3	50311108	50311108	+	RNA	SNP	A	A	G			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr3:50311108A>G	ENST00000418948.1	+	0	1156							Q13214	SEM3B_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B						axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			central_nervous_system(2)|kidney(1)|lung(2)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GGGGTTGGGGAGGGGGGCAGC	0.701											OREG0015583	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000418948.1																			0				central_nervous_system(2)|kidney(1)|lung(2)|skin(1)	6								sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B							16.0	20.0	19.0					3																	50311108		2011	4152	6163			7869				axon guidance|cell-cell signaling	endoplasmic reticulum|extracellular region|membrane	receptor activity	g.chr3:50311108A>G	U28369	CCDS74941.1	3p21.3	2013-01-11			ENSG00000012171	ENSG00000012171		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10724	protein-coding gene	gene with protein product		601281		SEMAA		7748561, 8633026	Standard	NM_004636		Approved	SemA, semaV, LUCA-1, sema5	uc003cyu.3	Q13214	OTTHUMG00000156970		3.37:g.50311108A>G			OREG0015583	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	968					Q13214	SEM3B_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	0	1156	+								Q6GU46|Q8TB71|Q8TDV7|Q93018|Q96GX0	RNA	SNP	ENST00000418948.1	37																																																																																						0.701	SEMA3B-001	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000346890.2	NM_001005914		11	56	0	0	0	1	0	11	56				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			25	22	0	0	0	1	0	25	22				
FPGS	2356	broad.mit.edu	37	9	130569293	130569293	+	Missense_Mutation	SNP	A	A	G	rs377363236	byFrequency	TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr9:130569293A>G	ENST00000373247.2	+	5	478	c.428A>G	c.(427-429)aAt>aGt	p.N143S	FPGS_ENST00000373225.3_Missense_Mutation_p.N93S|FPGS_ENST00000460181.1_3'UTR|FPGS_ENST00000373245.1_Missense_Mutation_p.N143S|FPGS_ENST00000393706.2_Missense_Mutation_p.N143S	NM_004957.4	NP_004948.4	Q05932	FOLC_HUMAN	folylpolyglutamate synthase	143					brain development (GO:0007420)|folic acid metabolic process (GO:0046655)|liver development (GO:0001889)|nucleobase-containing compound metabolic process (GO:0006139)|one-carbon metabolic process (GO:0006730)|organ regeneration (GO:0031100)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|tetrahydrofolylpolyglutamate synthase activity (GO:0004326)			endometrium(2)|kidney(1)|lung(3)|ovary(1)	7					Methotrexate(DB00563)|Pralatrexate(DB06813)|Raltitrexed(DB00293)	ATCCGCATCAATGGGCAGCCC	0.657													a|||	2	0.000399361	0.0	0.0	5008	,	,		17834	0.0		0.002	False		,,,				2504	0.0					ENST00000373245.1																			0				endometrium(2)|kidney(1)|lung(3)|ovary(1)	7						c.(427-429)aAt>aGt		folylpolyglutamate synthase	L-Glutamic Acid(DB00142)		SER/ASN,SER/ASN	0,4406		0,0,2203	95.0	91.0	92.0		278,428	5.4	0.9	9		92	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	FPGS	NM_001018078.1,NM_004957.4	46,46	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	probably-damaging,probably-damaging	93/538,143/588	130569293	1,13005	2203	4300	6503	SO:0001583	missense	2356				folic acid metabolic process|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|one-carbon metabolic process	cytosol|mitochondrial matrix	ATP binding|tetrahydrofolylpolyglutamate synthase activity	g.chr9:130569293A>G		CCDS35148.1, CCDS35149.1, CCDS75905.1	9q34.11	2013-09-19			ENSG00000136877	ENSG00000136877	6.3.2.17		3824	protein-coding gene	gene with protein product		136510					Standard	NM_004957		Approved		uc004bsg.1	Q05932	OTTHUMG00000020716	ENST00000373247.2:c.428A>G	9.37:g.130569293A>G	ENSP00000362344:p.Asn143Ser					FPGS_ENST00000393706.2_Missense_Mutation_p.N143S|FPGS_ENST00000460181.1_3'UTR|FPGS_ENST00000373225.3_Missense_Mutation_p.N93S|FPGS_ENST00000373247.2_Missense_Mutation_p.N143S	p.N143S			Q05932	FOLC_HUMAN			5	478	+			143					B3KPW4|B7Z2Z3|F5H0K6|Q5JU19|Q5JU22|Q6P2P6	Missense_Mutation	SNP	ENST00000373247.2	37	c.428A>G	CCDS35148.1	.	.	.	.	.	.	.	.	.	.	a	18.74	3.688885	0.68271	0.0	1.16E-4	ENSG00000136877	ENST00000373247;ENST00000373245;ENST00000393706;ENST00000373228;ENST00000373225;ENST00000431857;ENST00000423577	T;T;T;T;T	0.37235	2.55;1.21;2.55;1.21;2.16	5.45	5.45	0.79879	Mur ligase, central (2);	0.043633	0.85682	D	0.000000	T	0.61198	0.2328	M	0.87269	2.87	0.80722	D	1	P;D	0.63880	0.918;0.993	P;P	0.59221	0.773;0.854	T	0.69327	-0.5174	10	0.72032	D	0.01	8.6503	14.7096	0.69218	1.0:0.0:0.0:0.0	.	143;143	Q05932-4;Q05932	.;FOLC_HUMAN	S	143;143;143;143;93;93;93	ENSP00000362344:N143S;ENSP00000362342:N143S;ENSP00000377309:N143S;ENSP00000362325:N143S;ENSP00000362322:N93S	ENSP00000362322:N93S	N	+	2	0	FPGS	129609114	1.000000	0.71417	0.931000	0.37212	0.901000	0.52897	9.122000	0.94380	2.087000	0.62958	0.370000	0.22315	AAT		0.657	FPGS-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054251.1			39	136	0	0	0	1	0	39	136				
OR51D1	390038	broad.mit.edu	37	11	4661741	4661741	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr11:4661741C>A	ENST00000357605.2	+	1	797	c.721C>A	c.(721-723)Ctg>Atg	p.L241M	OR51E1_ENST00000396952.5_5'Flank	NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D, member 1	241						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGTTTTGGAGCTGTCCTCTCG	0.512																																						ENST00000357605.2																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27						c.(721-723)Ctg>Atg		olfactory receptor, family 51, subfamily D, member 1							198.0	174.0	182.0					11																	4661741		2201	4298	6499	SO:0001583	missense	390038				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4661741C>A	AB065855	CCDS31357.1	11p15.4	2012-08-09			ENSG00000197428	ENSG00000197428		"""GPCR / Class A : Olfactory receptors"""	15193	protein-coding gene	gene with protein product							Standard	NM_001004751		Approved	OR51D1Q	uc010qyk.2	Q8NGF3	OTTHUMG00000165724	ENST00000357605.2:c.721C>A	11.37:g.4661741C>A	ENSP00000350222:p.Leu241Met						p.L241M	NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	797	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	241					B9EIK4	Missense_Mutation	SNP	ENST00000357605.2	37	c.721C>A	CCDS31357.1	.	.	.	.	.	.	.	.	.	.	C	6.803	0.517220	0.13005	.	.	ENSG00000197428	ENST00000357605	T	0.00051	8.81	4.26	1.33	0.21861	GPCR, rhodopsin-like superfamily (1);	0.000000	0.35677	N	0.003060	T	0.00271	0.0008	L	0.54863	1.705	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.50608	-0.8808	10	0.87932	D	0	.	4.0417	0.09755	0.1635:0.5622:0.0:0.2743	.	241	Q8NGF3	O51D1_HUMAN	M	241	ENSP00000350222:L241M	ENSP00000350222:L241M	L	+	1	2	OR51D1	4618317	0.001000	0.12720	0.018000	0.16275	0.022000	0.10575	0.473000	0.22132	0.177000	0.19895	0.462000	0.41574	CTG		0.512	OR51D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385956.1	NM_001004751		17	37	1	0	2.35188e-11	1	2.40473e-11	17	37				
MYO15A	51168	broad.mit.edu	37	17	18022907	18022907	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr17:18022907G>A	ENST00000205890.5	+	2	1131	c.793G>A	c.(793-795)Ggc>Agc	p.G265S		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	265					inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GGCGGGCCTCGGCCCCTACAG	0.652																																						ENST00000205890.5																			0				breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99						c.(793-795)Ggc>Agc		myosin XVA							29.0	36.0	33.0					17																	18022907		2038	4168	6206	SO:0001583	missense	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18022907G>A	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.793G>A	17.37:g.18022907G>A	ENSP00000205890:p.Gly265Ser						p.G265S	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN			2	1131	+	all_neural(463;0.228)		265			Myosin head-like.		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	c.793G>A	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	G	12.21	1.869733	0.33069	.	.	ENSG00000091536	ENST00000205890	D	0.90197	-2.63	5.55	-0.0768	0.13721	.	.	.	.	.	T	0.79787	0.4506	L	0.29908	0.895	0.09310	N	0.999999	B	0.25521	0.128	B	0.12837	0.008	T	0.63585	-0.6604	9	0.27785	T	0.31	.	2.116	0.03713	0.2002:0.202:0.4505:0.1472	.	265	Q9UKN7	MYO15_HUMAN	S	265	ENSP00000205890:G265S	ENSP00000205890:G265S	G	+	1	0	MYO15A	17963632	0.001000	0.12720	0.001000	0.08648	0.026000	0.11368	0.223000	0.17719	-0.184000	0.10567	-1.259000	0.01468	GGC		0.652	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		41	64	0	0	0	1	0	41	64				
TMEM92	162461	broad.mit.edu	37	17	48356660	48356660	+	Silent	SNP	G	G	A			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr17:48356660G>A	ENST00000300433.3	+	6	581	c.471G>A	c.(469-471)ccG>ccA	p.P157P	RP11-893F2.9_ENST00000508851.1_RNA|TMEM92_ENST00000507382.1_Silent_p.P157P	NM_001168215.1	NP_001161687.1	Q6UXU6	TMM92_HUMAN	transmembrane protein 92	157						integral component of membrane (GO:0016021)				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1)	7						TTGACAACCCGGCCTTCTGAG	0.597																																						ENST00000300433.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1)	7						c.(469-471)ccG>ccA		transmembrane protein 92							77.0	83.0	81.0					17																	48356660		2203	4300	6503	SO:0001819	synonymous_variant	162461					integral to membrane		g.chr17:48356660G>A		CCDS11562.1	17q21.33	2005-12-13							26579	protein-coding gene	gene with protein product						12975309	Standard	NM_153229		Approved	FLJ33318	uc002iqn.2	Q6UXU6		ENST00000300433.3:c.471G>A	17.37:g.48356660G>A						TMEM92_ENST00000507382.1_Silent_p.P157P	p.P157P	NM_001168215.1	NP_001161687.1	Q6UXU6	TMM92_HUMAN			6	581	+			157					Q8NBF0	Silent	SNP	ENST00000300433.3	37	c.471G>A	CCDS11562.1																																																																																				0.597	TMEM92-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367053.2	NM_153229		4	177	0	0	0	1	0	4	177				
EGFLAM	133584	broad.mit.edu	37	5	38338820	38338820	+	Silent	SNP	C	C	T	rs142461042		TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr5:38338820C>T	ENST00000354891.3	+	3	574	c.228C>T	c.(226-228)ggC>ggT	p.G76G	EGFLAM_ENST00000322350.5_Silent_p.G76G	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	76	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)			NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					CTGAGGTTGGCGCAGATAAAT	0.532													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18532	0.0		0.0	False		,,,				2504	0.0				Colon(62;485 1295 3347 17454)	ENST00000322350.5																			0				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85						c.(226-228)ggC>ggT		EGF-like, fibronectin type III and laminin G domains		C	,	2,4404	4.2+/-10.8	0,2,2201	100.0	95.0	97.0		228,228	-4.1	0.0	5	dbSNP_134	97	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	EGFLAM	NM_001205301.1,NM_152403.3	,	0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231	,	76/1018,76/1010	38338820	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	133584					cell junction|proteinaceous extracellular matrix|synapse		g.chr5:38338820C>T	AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"""Fibronectin type III domain containing"""	26810	protein-coding gene	gene with protein product	"""pikachurin"", ""agrin-like"""					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.228C>T	5.37:g.38338820C>T						EGFLAM_ENST00000354891.3_Silent_p.G76G	p.G76G	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN			3	574	+	all_lung(31;0.000385)		76			Fibronectin type-III 1.		A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Silent	SNP	ENST00000354891.3	37	c.228C>T	CCDS56363.1																																																																																				0.532	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1	NM_152403		24	25	0	0	0	1	0	24	25				
C2orf68	388969	broad.mit.edu	37	2	85839085	85839085	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr2:85839085C>G	ENST00000306336.5	-	1	67	c.23G>C	c.(22-24)cGg>cCg	p.R8P	USP39_ENST00000450066.2_5'Flank|C2orf68_ENST00000478626.1_5'Flank|USP39_ENST00000459775.1_Intron|C2orf68_ENST00000409734.3_Missense_Mutation_p.R8P	NM_001013649.3	NP_001013671.2	Q2NKX9	CB068_HUMAN	chromosome 2 open reading frame 68	8										breast(1)|central_nervous_system(1)|endometrium(1)	3						GTGCCCCGGCCGGGGATGCGG	0.731																																						ENST00000306336.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)	3						c.(22-24)cGg>cCg		chromosome 2 open reading frame 68							8.0	13.0	12.0					2																	85839085		1752	3962	5714	SO:0001583	missense	388969							g.chr2:85839085C>G		CCDS42704.1	2p11.2	2008-07-18			ENSG00000168887	ENSG00000168887			34353	protein-coding gene	gene with protein product							Standard	NM_001013649		Approved		uc002sqc.2	Q2NKX9	OTTHUMG00000153088	ENST00000306336.5:c.23G>C	2.37:g.85839085C>G	ENSP00000304410:p.Arg8Pro					C2orf68_ENST00000409734.3_Missense_Mutation_p.R8P|USP39_ENST00000459775.1_Intron	p.R8P	NM_001013649.3	NP_001013671.2	Q2NKX9	CB068_HUMAN			1	67	-			8					B4DT10|Q4G0J7|Q6ZVA6	Missense_Mutation	SNP	ENST00000306336.5	37	c.23G>C	CCDS42704.1	.	.	.	.	.	.	.	.	.	.	C	7.491	0.650697	0.14516	.	.	ENSG00000168887	ENST00000306336;ENST00000409734	.	.	.	5.44	3.64	0.41730	.	0.374303	0.28952	N	0.013602	T	0.14227	0.0344	N	0.14661	0.345	0.09310	N	1	P;B	0.47604	0.898;0.299	B;B	0.37422	0.224;0.249	T	0.08554	-1.0716	9	0.33940	T	0.23	-7.8254	6.7312	0.23385	0.175:0.7369:0.0:0.0881	.	8;8	Q2NKX9-3;Q2NKX9	.;CB068_HUMAN	P	8	.	ENSP00000304410:R8P	R	-	2	0	C2orf68	85692596	0.004000	0.15560	0.001000	0.08648	0.007000	0.05969	0.839000	0.27586	0.852000	0.35287	-0.237000	0.12165	CGG		0.731	C2orf68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329451.1	NM_001013649		6	18	0	0	0	1	0	6	18				
ADAM2	2515	broad.mit.edu	37	8	39624672	39624672	+	Splice_Site	SNP	T	T	C			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr8:39624672T>C	ENST00000265708.4	-	13	1414	c.1311A>G	c.(1309-1311)ctA>ctG	p.L437L	ADAM2_ENST00000521880.1_Splice_Site_p.L437L|ADAM2_ENST00000347580.4_Splice_Site_p.L418L|ADAM2_ENST00000379853.2_Splice_Site_p.L311L	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	437	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				adult behavior (GO:0030534)|binding of sperm to zona pellucida (GO:0007339)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|visual learning (GO:0008542)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		AAGCTCTTACTAGACAGTTTT	0.343																																						ENST00000265708.4																			0				haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53						c.e13+1		ADAM metallopeptidase domain 2							139.0	136.0	137.0					8																	39624672		2203	4300	6503	SO:0001630	splice_region_variant	2515				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr8:39624672T>C	U52370	CCDS34884.1, CCDS64882.1, CCDS64883.1	8p11.2	2009-03-25	2008-07-31		ENSG00000104755	ENSG00000104755		"""ADAM metallopeptidase domain containing"""	198	protein-coding gene	gene with protein product	"""cancer/testis antigen 15"""	601533	"""fertilin beta"""	FTNB		8702389, 9070941	Standard	NM_001278113		Approved	PH-30b, PH30, CT15	uc003xnj.4	Q99965	OTTHUMG00000164041	ENST00000265708.4:c.1311+1A>G	8.37:g.39624672T>C						ADAM2_ENST00000379853.2_Splice_Site_p.L311_splice|ADAM2_ENST00000347580.4_Splice_Site_p.L418_splice|ADAM2_ENST00000521880.1_Splice_Site_p.L437_splice	p.L437_splice	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)	13	1414	-		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	437			Disintegrin.		P78326|Q9UQQ8	Splice_Site	SNP	ENST00000265708.4	37	c.1311_splice	CCDS34884.1																																																																																				0.343	ADAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376926.1	NM_001464	Silent	70	81	0	0	0	1	0	70	81				
DNAH7	56171	broad.mit.edu	37	2	196749379	196749379	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr2:196749379G>A	ENST00000312428.6	-	35	5793	c.5693C>T	c.(5692-5694)aCa>aTa	p.T1898I		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1898					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CTTTGAGGATGTTTGCTCAGT	0.358																																						ENST00000312428.6																			0				NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						c.(5692-5694)aCa>aTa		dynein, axonemal, heavy chain 7							125.0	119.0	121.0					2																	196749379		1907	4115	6022	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196749379G>A	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.5693C>T	2.37:g.196749379G>A	ENSP00000311273:p.Thr1898Ile						p.T1898I	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN			35	5793	-			1898					B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.5693C>T	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	G	1.819	-0.472769	0.04445	.	.	ENSG00000118997	ENST00000312428	T	0.25250	1.81	5.67	-3.06	0.05379	.	1.129900	0.06555	N	0.745641	T	0.16385	0.0394	L	0.34521	1.04	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30794	-0.9966	10	0.36615	T	0.2	.	4.6701	0.12685	0.4752:0.0922:0.339:0.0936	.	1898	Q8WXX0	DYH7_HUMAN	I	1898	ENSP00000311273:T1898I	ENSP00000311273:T1898I	T	-	2	0	DNAH7	196457624	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.203000	0.17315	-0.591000	0.05859	-0.136000	0.14681	ACA		0.358	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		13	35	0	0	0	1	0	13	35				
ANKRD30BP2	149992	broad.mit.edu	37	21	14414902	14414902	+	RNA	SNP	G	G	A	rs2821609		TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr21:14414902G>A	ENST00000507941.1	+	0	95									ankyrin repeat domain 30B pseudogene 2																		CCAGCTTGACGTCCTTGATGG	0.443																																						ENST00000507941.1																			0																																																			0							g.chr21:14414902G>A	AF427490		21q11.2	2010-06-14	2010-06-14	2010-06-14	ENSG00000224309	ENSG00000224309			16620	pseudogene	pseudogene	"""cancer/testis antigen 85"""		"""chromosome 21 open reading frame 99"""	C21orf99		12036297, 17114284	Standard	NR_026916		Approved	CT85, CTSP-1	uc002yja.4		OTTHUMG00000074164		21.37:g.14414902G>A														0	95	+									RNA	SNP	ENST00000507941.1	37																																																																																						0.443	ANKRD30BP2-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000372094.1	NR_026916		4	26	0	0	0	1	0	4	26				
FRYL	285527	broad.mit.edu	37	4	48536663	48536663	+	Silent	SNP	G	G	A	rs371771105		TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr4:48536663G>A	ENST00000503238.1	-	46	6603	c.6604C>T	c.(6604-6606)Cta>Tta	p.L2202L	FRYL_ENST00000358350.4_Silent_p.L2202L|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000537810.1_Silent_p.L2202L			O94915	FRYL_HUMAN	FRY-like	2202					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						ATAATCTGTAGTAATGATTGC	0.313																																						ENST00000537810.1																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(6604-6606)Cta>Tta		FRY-like							76.0	70.0	72.0					4																	48536663		1811	4086	5897	SO:0001819	synonymous_variant	285527				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr4:48536663G>A	AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"""KIAA0826"", ""furry homolog-like (Drosophila)"""	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.6604C>T	4.37:g.48536663G>A						FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000358350.4_Silent_p.L2202L|FRYL_ENST00000503238.1_Silent_p.L2202L	p.L2202L			O94915	FRYL_HUMAN			49	7208	-			2202					O95640|Q8WTZ5|Q9NT40	Silent	SNP	ENST00000503238.1	37	c.6604C>T	CCDS43227.1	.	.	.	.	.	.	.	.	.	.	G	0.042	-1.281617	0.01398	.	.	ENSG00000075539	ENST00000514617	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	T	0.76557	0.4004	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.74548	-0.3629	4	.	.	.	.	19.7773	0.96399	0.0:0.0:1.0:0.0	.	.	.	.	I	1071	.	.	T	-	2	0	FRYL	48231420	1.000000	0.71417	0.140000	0.22221	0.016000	0.09150	3.572000	0.53849	2.680000	0.91292	0.650000	0.86243	ACT		0.313	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2			34	15	0	0	0	1	0	34	15				
RYR2	6262	broad.mit.edu	37	1	237804274	237804274	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr1:237804274T>C	ENST00000366574.2	+	47	7510	c.7193T>C	c.(7192-7194)cTc>cCc	p.L2398P	RYR2_ENST00000542537.1_Missense_Mutation_p.L2382P|RYR2_ENST00000360064.6_Missense_Mutation_p.L2396P	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2398	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|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)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTGATTGACCTCTTGGGACGC	0.453																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(7192-7194)cTc>cCc		ryanodine receptor 2 (cardiac)							162.0	159.0	160.0					1																	237804274		2084	4239	6323	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237804274T>C	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.7193T>C	1.37:g.237804274T>C	ENSP00000355533:p.Leu2398Pro					RYR2_ENST00000542537.1_Missense_Mutation_p.L2382P|RYR2_ENST00000360064.6_Missense_Mutation_p.L2396P	p.L2398P	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		47	7510	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	2398			4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.7193T>C	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	T	25.6	4.657820	0.88154	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.99353	-5.77;-5.77;-5.77	5.6	5.6	0.85130	.	0.000000	0.56097	D	0.000036	D	0.99456	0.9807	M	0.87180	2.865	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98600	1.0658	10	0.87932	D	0	-13.7329	16.0773	0.80976	0.0:0.0:0.0:1.0	.	2398	Q92736	RYR2_HUMAN	P	2398;2396;2382	ENSP00000355533:L2398P;ENSP00000353174:L2396P;ENSP00000443798:L2382P	ENSP00000353174:L2396P	L	+	2	0	RYR2	235870897	1.000000	0.71417	0.922000	0.36590	0.947000	0.59692	7.937000	0.87672	2.254000	0.74563	0.482000	0.46254	CTC		0.453	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		16	13	0	0	0	1	0	16	13				
IGKV6D-21	28870	broad.mit.edu	37	2	90060991	90060991	+	RNA	SNP	T	T	C			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr2:90060991T>C	ENST00000436451.2	+	0	405									immunoglobulin kappa variable 6D-21 (non-functional)																		AGTAGTAGTTTACCTCACACT	0.468																																						ENST00000436451.2																			0																				113.0	115.0	114.0					2																	90060991		1898	4107	6005			0							g.chr2:90060991T>C	X12683		2p11.2	2012-02-10	2008-09-10		ENSG00000225523	ENSG00000225523		"""Immunoglobulins / IGK locus"""	5837	other	immunoglobulin gene			"""immunoglobulin kappa variable 6D-21"""				Standard	NG_000833		Approved	IGKV6D21, A10			OTTHUMG00000151608		2.37:g.90060991T>C														0	405	+									RNA	SNP	ENST00000436451.2	37																																																																																						0.468	IGKV6D-21-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323280.1	NG_000833		49	86	0	0	0	1	0	49	86				
FCRL5	83416	broad.mit.edu	37	1	157514077	157514077	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr1:157514077G>T	ENST00000361835.3	-	5	976	c.819C>A	c.(817-819)agC>agA	p.S273R	FCRL5_ENST00000368189.3_Missense_Mutation_p.S273R|FCRL5_ENST00000368191.3_Missense_Mutation_p.S188R|FCRL5_ENST00000368190.3_Missense_Mutation_p.S273R|FCRL5_ENST00000356953.4_Missense_Mutation_p.S273R	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	273					negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				AGGATCTCGGGCTGTCAGATA	0.512																																						ENST00000361835.3																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85						c.(817-819)agC>agA		Fc receptor-like 5							147.0	144.0	145.0					1																	157514077		2203	4300	6503	SO:0001583	missense	83416					integral to membrane|plasma membrane	receptor activity	g.chr1:157514077G>T	AF369794	CCDS1165.1	1q21	2013-01-11			ENSG00000143297	ENSG00000143297		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18508	protein-coding gene	gene with protein product		605877				11027651, 11290337	Standard	NM_031281		Approved	FCRH5, IRTA2, BXMAS1, CD307e	uc009wsm.3	Q96RD9	OTTHUMG00000017481	ENST00000361835.3:c.819C>A	1.37:g.157514077G>T	ENSP00000354691:p.Ser273Arg					FCRL5_ENST00000356953.4_Missense_Mutation_p.S273R|FCRL5_ENST00000368191.3_Missense_Mutation_p.S188R|FCRL5_ENST00000368190.3_Missense_Mutation_p.S273R|FCRL5_ENST00000368189.3_Missense_Mutation_p.S273R	p.S273R	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN			5	976	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)	273					A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Missense_Mutation	SNP	ENST00000361835.3	37	c.819C>A	CCDS1165.1	.	.	.	.	.	.	.	.	.	.	G	13.83	2.353999	0.41700	.	.	ENSG00000143297	ENST00000361835;ENST00000356953;ENST00000368190;ENST00000368191;ENST00000368189	T;T;T;T;T	0.15603	2.41;2.41;2.41;2.41;2.41	3.89	-0.262	0.12958	.	.	.	.	.	T	0.26955	0.0660	M	0.90425	3.115	0.19775	N	0.999956	D;D;D;D;D;P	0.89917	1.0;1.0;1.0;1.0;1.0;0.644	D;D;D;D;D;P	0.97110	0.999;0.999;1.0;1.0;0.998;0.571	T	0.03202	-1.1061	9	0.41790	T	0.15	.	6.2299	0.20728	0.4841:0.0:0.5159:0.0	.	304;188;273;273;273;273	B4DW39;F5GXJ2;Q96RD9-3;A6NJE8;Q96RD9-4;Q96RD9	.;.;.;.;.;FCRL5_HUMAN	R	273;273;273;188;273	ENSP00000354691:S273R;ENSP00000349434:S273R;ENSP00000357173:S273R;ENSP00000357174:S188R;ENSP00000357172:S273R	ENSP00000349434:S273R	S	-	3	2	FCRL5	155780701	0.331000	0.24713	0.007000	0.13788	0.002000	0.02628	0.403000	0.20982	0.071000	0.16664	0.563000	0.77884	AGC		0.512	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046263.1	NM_031281		126	145	1	0	1.13993e-56	1	1.23492e-56	126	145				
TUBGCP3	10426	broad.mit.edu	37	13	113181323	113181323	+	Silent	SNP	A	A	C			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr13:113181323A>C	ENST00000261965.3	-	13	1674	c.1488T>G	c.(1486-1488)gtT>gtG	p.V496V	TUBGCP3_ENST00000462580.1_5'UTR|TUBGCP3_ENST00000375669.3_Silent_p.V496V	NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	496					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|single fertilization (GO:0007338)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|polar microtubule (GO:0005827)|spindle (GO:0005819)	gamma-tubulin binding (GO:0043015)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					GATCATGACAAACTTGGTGCA	0.398																																						ENST00000261965.3																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25						c.(1486-1488)gtT>gtG		tubulin, gamma complex associated protein 3							156.0	134.0	142.0					13																	113181323		2203	4300	6503	SO:0001819	synonymous_variant	10426				G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton	g.chr13:113181323A>C	AF042378	CCDS9525.1, CCDS66584.1, CCDS73599.1	13q34	2008-07-18			ENSG00000126216	ENSG00000126216			18598	protein-coding gene	gene with protein product	"""spindle pole body protein"""					9566967, 9566969	Standard	XM_005268293		Approved	GCP3, Spc98p, SPBC98	uc001vse.1	Q96CW5	OTTHUMG00000017367	ENST00000261965.3:c.1488T>G	13.37:g.113181323A>C						TUBGCP3_ENST00000375669.3_Silent_p.V496V|TUBGCP3_ENST00000462580.1_5'UTR	p.V496V	NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN			13	1674	-	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)		496					O43631|O60852|O60853|Q5T8L2|Q7Z4K1|Q96I79	Silent	SNP	ENST00000261965.3	37	c.1488T>G	CCDS9525.1																																																																																				0.398	TUBGCP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045825.2	NM_006322		9	38	0	0	0	1	0	9	38				
PFKL	5211	broad.mit.edu	37	21	45732984	45732984	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr21:45732984G>A	ENST00000349048.4	+	5	606	c.551G>A	c.(550-552)cGc>cAc	p.R184H	PFKL_ENST00000496824.1_3'UTR|PFKL_ENST00000403390.1_Missense_Mutation_p.R231H	NM_002626.4	NP_002617.3	P17858	PFKAL_HUMAN	phosphofructokinase, liver	184	N-terminal catalytic PFK domain 1.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose 6-phosphate metabolic process (GO:0006002)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|negative regulation of insulin secretion (GO:0046676)|protein homotetramerization (GO:0051289)|protein oligomerization (GO:0051259)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	6-phosphofructokinase complex (GO:0005945)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|fructose binding (GO:0070061)|fructose-6-phosphate binding (GO:0070095)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)	p.R231L(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		GCCCTCCACCGCATCATGGAG	0.667																																						ENST00000403390.1																			1	Substitution - Missense(1)	p.R231L(1)	lung(1)	cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(691-693)cGc>cAc		phosphofructokinase, liver							126.0	99.0	108.0					21																	45732984		2203	4300	6503	SO:0001583	missense	5211				fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding	g.chr21:45732984G>A		CCDS33582.1	21q22.3	1992-12-17			ENSG00000141959	ENSG00000141959	2.7.1.11		8876	protein-coding gene	gene with protein product		171860					Standard	NR_024108		Approved		uc002zel.3	P17858	OTTHUMG00000086910	ENST00000349048.4:c.551G>A	21.37:g.45732984G>A	ENSP00000269848:p.Arg184His					PFKL_ENST00000496824.1_3'UTR|PFKL_ENST00000349048.4_Missense_Mutation_p.R184H	p.R231H			P17858	K6PL_HUMAN		Colorectal(79;0.0811)	6	692	+			184					Q96A64|Q96IH4|Q9BR91	Missense_Mutation	SNP	ENST00000349048.4	37	c.692G>A	CCDS33582.1	.	.	.	.	.	.	.	.	.	.	G	34	5.347975	0.95807	.	.	ENSG00000141959	ENST00000349048;ENST00000381188;ENST00000403390	T;T	0.80566	-1.39;-1.39	4.59	4.59	0.56863	Phosphofructokinase domain (2);	0.000000	0.85682	D	0.000000	D	0.92625	0.7657	H	0.95679	3.705	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.94970	0.8116	10	0.87932	D	0	-34.907	16.1643	0.81743	0.0:0.0:1.0:0.0	.	184;231	P17858;P17858-2	K6PL_HUMAN;.	H	184;234;231	ENSP00000269848:R184H;ENSP00000384038:R231H	ENSP00000269848:R184H	R	+	2	0	PFKL	44557412	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.385000	0.97223	2.096000	0.63516	0.491000	0.48974	CGC		0.667	PFKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195805.1			4	172	0	0	0	1	0	4	172				
C17orf80	55028	broad.mit.edu	37	17	71243390	71243390	+	Silent	SNP	C	C	T			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr17:71243390C>T	ENST00000535032.2	+	5	1853	c.1740C>T	c.(1738-1740)tgC>tgT	p.C580C	RP11-661C3.2_ENST00000579037.1_RNA|C17orf80_ENST00000359042.2_Silent_p.C580C|C17orf80_ENST00000582793.1_Silent_p.C49C|C17orf80_ENST00000268942.8_Silent_p.C544C|C17orf80_ENST00000577615.1_Silent_p.C544C			Q9BSJ5	CQ080_HUMAN	chromosome 17 open reading frame 80	580						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				kidney(1)|large_intestine(5)|lung(2)|skin(2)|stomach(2)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(166;0.197)			aaaaattgtgccgacccctgC	0.463																																						ENST00000359042.2																			0				kidney(1)|large_intestine(5)|lung(2)|skin(2)|stomach(2)|urinary_tract(2)	14						c.(1738-1740)tgC>tgT		chromosome 17 open reading frame 80							103.0	94.0	97.0					17																	71243390		2203	4300	6503	SO:0001819	synonymous_variant	55028					integral to membrane		g.chr17:71243390C>T	AY163812	CCDS11694.1, CCDS42377.1, CCDS45767.1, CCDS74145.1	17q25.1	2012-02-24	2012-02-24	2012-02-24	ENSG00000141219	ENSG00000141219			29601	protein-coding gene	gene with protein product	"""sperm-expressed protein 1"", ""migration-inducing protein 3"""					12477932	Standard	NM_017941		Approved	HLC-8, MIG3, FLJ20721, SPEP1	uc002jjl.4	Q9BSJ5		ENST00000535032.2:c.1740C>T	17.37:g.71243390C>T						C17orf80_ENST00000535032.2_Silent_p.C580C|C17orf80_ENST00000577615.1_Silent_p.C544C|C17orf80_ENST00000582793.1_Silent_p.C49C|C17orf80_ENST00000268942.8_Silent_p.C544C	p.C580C	NM_017941.4	NP_060411.2	Q9BSJ5	CQ080_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.197)		6	1934	+			580					A8K9X3|Q5JB45|Q6YAU3|Q9H0L9|Q9H5E6|Q9NWN5	Silent	SNP	ENST00000535032.2	37	c.1740C>T	CCDS11694.1																																																																																				0.463	C17orf80-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441893.1	NM_017941		4	105	0	0	0	1	0	4	105				
CD97	976	broad.mit.edu	37	19	14517251	14517251	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr19:14517251G>A	ENST00000242786.5	+	15	2010	c.1930G>A	c.(1930-1932)Gtg>Atg	p.V644M	CTC-548K16.5_ENST00000590626.1_RNA|CD97_ENST00000357355.3_Missense_Mutation_p.V595M|CD97_ENST00000358600.3_Missense_Mutation_p.V551M	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	644					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						TGTGGTGCGCGTGTTCCAAGG	0.652											OREG0025312	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000242786.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(1930-1932)Gtg>Atg		CD97 molecule							64.0	48.0	53.0					19																	14517251		2200	4298	6498	SO:0001583	missense	976				cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr19:14517251G>A		CCDS32929.1, CCDS32930.1, CCDS32931.1	19p13	2014-08-08	2006-03-28			ENSG00000123146		"""CD molecules"", ""-"", ""GPCR / Class B : Orphans"""	1711	protein-coding gene	gene with protein product	"""leukocyte antigen CD97"", ""seven-span transmembrane protein"", ""seven-transmembrane, heterodimeric receptor associated with inflammation"", ""seven transmembrane helix receptor"""	601211	"""CD97 antigen"""			7636245, 8786105	Standard	NM_078481		Approved	TM7LN1	uc002myl.3	P48960		ENST00000242786.5:c.1930G>A	19.37:g.14517251G>A	ENSP00000242786:p.Val644Met		OREG0025312	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	695	CD97_ENST00000358600.3_Missense_Mutation_p.V551M|CD97_ENST00000357355.3_Missense_Mutation_p.V595M|CTC-548K16.5_ENST00000590626.1_RNA	p.V644M	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN			15	2010	+			644					A8K7Z4|B2RBJ9|O00718|O76101|Q8NG72|Q8TBQ7	Missense_Mutation	SNP	ENST00000242786.5	37	c.1930G>A	CCDS32929.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.854066	0.91355	.	.	ENSG00000123146	ENST00000242786;ENST00000357355;ENST00000358600;ENST00000393059	T;T;T	0.37584	1.19;1.19;1.19	4.77	4.77	0.60923	GPCR, family 2-like (1);	1.844740	0.03625	N	0.237049	T	0.73745	0.3626	M	0.92784	3.345	0.48901	D	0.999727	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.996;0.998	T	0.59925	-0.7362	10	0.62326	D	0.03	.	15.2837	0.73810	0.0:0.0:1.0:0.0	.	551;595;644	P48960-2;P48960-3;P48960	.;.;CD97_HUMAN	M	644;595;551;594	ENSP00000242786:V644M;ENSP00000349918:V595M;ENSP00000351413:V551M	ENSP00000242786:V644M	V	+	1	0	CD97	14378251	1.000000	0.71417	0.999000	0.59377	0.957000	0.61999	7.542000	0.82095	2.200000	0.70718	0.650000	0.86243	GTG		0.652	CD97-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459821.2	NM_078481		3	14	0	0	0	1	0	3	14				
SPATA2	9825	broad.mit.edu	37	20	48523042	48523042	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr20:48523042G>A	ENST00000422556.1	-	3	1026	c.677C>T	c.(676-678)tCa>tTa	p.S226L	SPATA2_ENST00000543716.1_Missense_Mutation_p.S89L|SPATA2_ENST00000289431.5_Missense_Mutation_p.S226L	NM_001135773.1	NP_001129245.1	Q9UM82	SPAT2_HUMAN	spermatogenesis associated 2	226					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	20	Hepatocellular(150;0.133)		BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			TGCCACTCGTGACATGGAGGC	0.672																																						ENST00000422556.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	20						c.(676-678)tCa>tTa		spermatogenesis associated 2							25.0	26.0	26.0					20																	48523042		2202	4299	6501	SO:0001583	missense	9825				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus		g.chr20:48523042G>A	AB018300	CCDS13422.1	20q13.13	2014-06-13			ENSG00000158480	ENSG00000158480			14681	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 145"""	607662					Standard	NM_001135773		Approved	KIAA0757, PD1, tamo, PPP1R145	uc002xuw.3	Q9UM82	OTTHUMG00000032704	ENST00000422556.1:c.677C>T	20.37:g.48523042G>A	ENSP00000416799:p.Ser226Leu					SPATA2_ENST00000289431.5_Missense_Mutation_p.S226L|SPATA2_ENST00000543716.1_Missense_Mutation_p.S89L	p.S226L	NM_001135773.1	NP_001129245.1	Q9UM82	SPAT2_HUMAN	BRCA - Breast invasive adenocarcinoma(9;4.03e-06)		3	1026	-	Hepatocellular(150;0.133)		226					E1P626|O94857	Missense_Mutation	SNP	ENST00000422556.1	37	c.677C>T	CCDS13422.1	.	.	.	.	.	.	.	.	.	.	G	14.49	2.550663	0.45383	.	.	ENSG00000158480	ENST00000289431;ENST00000422556;ENST00000543716	T;T;T	0.49720	0.88;0.88;0.77	5.17	5.17	0.71159	.	0.215116	0.38959	N	0.001503	T	0.35653	0.0939	N	0.14661	0.345	0.43919	D	0.996561	B	0.22683	0.073	B	0.24394	0.053	T	0.12041	-1.0563	10	0.40728	T	0.16	-25.7623	18.8582	0.92262	0.0:0.0:1.0:0.0	.	226	Q9UM82	SPAT2_HUMAN	L	226;226;89	ENSP00000289431:S226L;ENSP00000416799:S226L;ENSP00000438855:S89L	ENSP00000289431:S226L	S	-	2	0	SPATA2	47956449	1.000000	0.71417	0.997000	0.53966	0.030000	0.12068	6.440000	0.73435	2.674000	0.91012	0.650000	0.86243	TCA		0.672	SPATA2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079658.1	NM_006038		18	49	0	0	0	1	0	18	49				
P2RY12	64805	broad.mit.edu	37	3	151056104	151056104	+	Missense_Mutation	SNP	A	A	T			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr3:151056104A>T	ENST00000302632.3	-	3	829	c.530T>A	c.(529-531)tTc>tAc	p.F177Y	MED12L_ENST00000474524.1_Intron|MED12L_ENST00000491549.1_Intron|MED12L_ENST00000273432.4_Intron	NM_022788.4|NM_176876.2	NP_073625.1|NP_795345.1	Q9H244	P2Y12_HUMAN	purinergic receptor P2Y, G-protein coupled, 12	177					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell projection organization (GO:0030030)|G-protein coupled purinergic nucleotide receptor signaling pathway (GO:0035589)|G-protein coupled receptor signaling pathway (GO:0007186)|hemostasis (GO:0007599)|negative regulation of cell differentiation (GO:0045596)|negative regulation of norepinephrine secretion (GO:0010700)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of GTPase activity (GO:0043547)|positive regulation of ion transport (GO:0043270)|potassium ion transmembrane transport (GO:0071805)|protein kinase B signaling (GO:0043491)|regulation of calcium ion transport (GO:0051924)	basal plasma membrane (GO:0009925)|caveola (GO:0005901)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	ADP receptor activity (GO:0001621)|G-protein coupled adenosine receptor activity (GO:0001609)|guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	17			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		Clopidogrel(DB00758)|Epoprostenol(DB01240)|Prasugrel(DB06209)|Ticagrelor(DB08816)|Ticlopidine(DB00208)|Treprostinil(DB00374)	TGATTTAAGGAAAGAGCATTT	0.368																																						ENST00000302632.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	17						c.(529-531)tTc>tAc		purinergic receptor P2Y, G-protein coupled, 12	Clopidogrel(DB00758)|Epoprostenol(DB01240)|Ticlopidine(DB00208)|Treprostinil(DB00374)						106.0	103.0	104.0					3																	151056104		2203	4300	6503	SO:0001583	missense	0				platelet activation	integral to membrane|plasma membrane	guanyl-nucleotide exchange factor activity	g.chr3:151056104A>T	AJ320495	CCDS3159.1	3q24-q25	2014-09-17			ENSG00000169313	ENSG00000169313		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	18124	protein-coding gene	gene with protein product		600515				11502873, 11104774	Standard	NM_022788		Approved	P2Y12, SP1999, HORK3	uc003eyw.1	Q9H244	OTTHUMG00000159863	ENST00000302632.3:c.530T>A	3.37:g.151056104A>T	ENSP00000307259:p.Phe177Tyr					MED12L_ENST00000474524.1_Intron|MED12L_ENST00000491549.1_Intron|MED12L_ENST00000273432.4_Intron	p.F177Y	NM_022788.4|NM_176876.2	NP_073625.1|NP_795345.1	Q9H244	P2Y12_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		3	829	-			177					D3DNJ5|Q546J7	Missense_Mutation	SNP	ENST00000302632.3	37	c.530T>A	CCDS3159.1	.	.	.	.	.	.	.	.	.	.	A	18.91	3.724373	0.68959	.	.	ENSG00000169313	ENST00000302632	T	0.37915	1.17	5.42	5.42	0.78866	GPCR, rhodopsin-like superfamily (1);	0.166784	0.56097	D	0.000038	T	0.19208	0.0461	N	0.14661	0.345	0.27310	N	0.957342	B	0.18741	0.03	B	0.22152	0.038	T	0.19063	-1.0317	10	0.02654	T	1	-30.1639	11.5223	0.50558	0.866:0.0:0.0:0.134	.	177	Q9H244	P2Y12_HUMAN	Y	177	ENSP00000307259:F177Y	ENSP00000307259:F177Y	F	-	2	0	P2RY12	152538794	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.000000	0.40816	2.174000	0.68829	0.533000	0.62120	TTC		0.368	P2RY12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357796.1			18	49	0	0	0	1	0	18	49				
PSD3	23362	broad.mit.edu	37	8	18729531	18729531	+	Silent	SNP	T	T	A			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr8:18729531T>A	ENST00000327040.8	-	3	945	c.843A>T	c.(841-843)ccA>ccT	p.P281P	PSD3_ENST00000440756.2_Silent_p.P281P|PSD3_ENST00000523619.1_Silent_p.P216P	NM_015310.3	NP_056125.3	Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	281					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		CACATCCCCCTGGGTGCTCTC	0.567																																						ENST00000440756.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(841-843)ccA>ccT		pleckstrin and Sec7 domain containing 3							58.0	59.0	59.0					8																	18729531		1952	4148	6100	SO:0001819	synonymous_variant	23362				regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity	g.chr8:18729531T>A	AF243495	CCDS34854.1, CCDS43720.1	8p21.3	2013-01-10			ENSG00000156011	ENSG00000156011		"""Pleckstrin homology (PH) domain containing"""	19093	protein-coding gene	gene with protein product		614440					Standard	NM_206909		Approved	KIAA0942, HCA67, EFA6R, DKFZp761K1423	uc003wza.3	Q9NYI0	OTTHUMG00000163711	ENST00000327040.8:c.843A>T	8.37:g.18729531T>A						PSD3_ENST00000523619.1_Silent_p.P216P|PSD3_ENST00000327040.8_Silent_p.P281P	p.P281P			Q9NYI0	PSD3_HUMAN		Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)	3	945	-			281					A6NFQ4|E9KL50|Q6B003|Q9Y2F1	Silent	SNP	ENST00000327040.8	37	c.843A>T	CCDS43720.1																																																																																				0.567	PSD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000374867.1	NM_015310		24	110	0	0	0	1	0	24	110				
DNAI2	64446	broad.mit.edu	37	17	72301394	72301394	+	Missense_Mutation	SNP	G	G	A	rs372196782		TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr17:72301394G>A	ENST00000311014.6	+	9	1091	c.1024G>A	c.(1024-1026)Gtc>Atc	p.V342I	DNAI2_ENST00000579490.1_Missense_Mutation_p.V399I|AC103809.1_ENST00000516976.1_RNA|DNAI2_ENST00000582036.1_Missense_Mutation_p.V342I|DNAI2_ENST00000446837.2_Missense_Mutation_p.V342I|RP11-647F2.2_ENST00000585167.1_RNA|DNAI2_ENST00000307504.5_Missense_Mutation_p.V199I			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	342					cilium assembly (GO:0042384)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GCAGGGCATCGTCATCTCCTG	0.577									Kartagener syndrome																													ENST00000579490.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						c.(1195-1197)Gtc>Atc		dynein, axonemal, intermediate chain 2		G	ILE/VAL,ILE/VAL	0,4406		0,0,2203	93.0	74.0	81.0		1024,1024	3.1	0.8	17		81	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	DNAI2	NM_001172810.1,NM_023036.4	29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	342/594,342/606	72301394	1,13005	2203	4300	6503	SO:0001583	missense	64446	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity	g.chr17:72301394G>A	AF250288	CCDS11697.1, CCDS58589.1	17q25	2013-02-19	2006-09-04			ENSG00000171595		"""Axonemal dyneins"", ""WD repeat domain containing"""	18744	protein-coding gene	gene with protein product	"""dynein intermediate chain 2"""	605483	"""dynein, axonemal, intermediate polypeptide 2"""			11153919, 21953912	Standard	NM_023036		Approved	CILD9, DIC2	uc002jkf.3	Q9GZS0		ENST00000311014.6:c.1024G>A	17.37:g.72301394G>A	ENSP00000308312:p.Val342Ile					DNAI2_ENST00000311014.6_Missense_Mutation_p.V342I|DNAI2_ENST00000582036.1_Missense_Mutation_p.V342I|DNAI2_ENST00000307504.5_Missense_Mutation_p.V199I|DNAI2_ENST00000446837.2_Missense_Mutation_p.V342I	p.V399I			Q9GZS0	DNAI2_HUMAN			8	1330	+			342					C9J0S6|Q8IUW4|Q9H179|Q9NT53	Missense_Mutation	SNP	ENST00000311014.6	37	c.1195G>A	CCDS11697.1	.	.	.	.	.	.	.	.	.	.	G	1.131	-0.652388	0.03480	0.0	1.16E-4	ENSG00000171595	ENST00000311014;ENST00000307504;ENST00000446837	T;T;T	0.70045	-0.45;-0.45;-0.45	5.06	3.09	0.35607	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.245893	0.41294	N	0.000918	T	0.46425	0.1392	N	0.17764	0.52	0.32559	N	0.531412	B	0.12013	0.005	B	0.14023	0.01	T	0.45396	-0.9264	10	0.10636	T	0.68	-55.354	11.1187	0.48275	0.2235:0.0:0.7765:0.0	.	342	Q9GZS0	DNAI2_HUMAN	I	342;199;342	ENSP00000308312:V342I;ENSP00000302929:V199I;ENSP00000400252:V342I	ENSP00000302929:V199I	V	+	1	0	DNAI2	69812989	0.994000	0.37717	0.782000	0.31804	0.415000	0.31203	2.193000	0.42658	0.558000	0.29135	-1.143000	0.01870	GTC		0.577	DNAI2-001	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442537.1	NM_023036		10	102	0	0	0	1	0	10	102				
TTK	7272	broad.mit.edu	37	6	80720598	80720598	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr6:80720598G>A	ENST00000369798.2	+	5	648	c.537G>A	c.(535-537)atG>atA	p.M179I	TTK_ENST00000230510.3_Missense_Mutation_p.M179I|TTK_ENST00000509894.1_Missense_Mutation_p.M179I	NM_001166691.1|NM_003318.4	NP_001160163.1|NP_003309.2	P33981	TTK_HUMAN	TTK protein kinase	179					chromosome separation (GO:0051304)|mitotic spindle assembly checkpoint (GO:0007094)|mitotic spindle organization (GO:0007052)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|spindle organization (GO:0007051)	membrane (GO:0016020)|spindle (GO:0005819)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		CACTAGAAATGCTGGAAATTG	0.348																																						ENST00000509894.1																			0				endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53						c.(535-537)atG>atA		TTK protein kinase							61.0	68.0	66.0					6																	80720598		2203	4299	6502	SO:0001583	missense	7272				mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr6:80720598G>A		CCDS4993.1, CCDS55040.1	6q14.1	2014-04-07			ENSG00000112742	ENSG00000112742			12401	protein-coding gene	gene with protein product	"""cancer/testis antigen 96"", ""monopolar spindle 1 kinase"""	604092				1639825	Standard	NM_003318		Approved	MPS1, MPS1L1, CT96, MPH1	uc003pjc.3	P33981	OTTHUMG00000015088	ENST00000369798.2:c.537G>A	6.37:g.80720598G>A	ENSP00000358813:p.Met179Ile					TTK_ENST00000230510.3_Missense_Mutation_p.M179I|TTK_ENST00000369798.2_Missense_Mutation_p.M179I	p.M179I			P33981	TTK_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0321)	5	1366	+		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)	179					A8K8U5|B2RDW2|E1P543|Q15272|Q5TCS0|Q9BW51|Q9NTM0	Missense_Mutation	SNP	ENST00000369798.2	37	c.537G>A	CCDS4993.1	.	.	.	.	.	.	.	.	.	.	G	17.71	3.455892	0.63401	.	.	ENSG00000112742	ENST00000509894;ENST00000230510;ENST00000369798	T;T;T	0.32753	1.44;1.44;1.44	4.95	4.95	0.65309	.	0.152279	0.64402	D	0.000003	T	0.20251	0.0487	L	0.56769	1.78	0.43047	D	0.994649	B;P	0.36144	0.397;0.539	B;B	0.30251	0.057;0.113	T	0.12941	-1.0528	10	0.72032	D	0.01	.	17.5251	0.87798	0.0:0.0:1.0:0.0	.	179;179	P33981;A8K8U5	TTK_HUMAN;.	I	179	ENSP00000422936:M179I;ENSP00000230510:M179I;ENSP00000358813:M179I	ENSP00000230510:M179I	M	+	3	0	TTK	80777317	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.098000	0.50259	2.449000	0.82847	0.561000	0.74099	ATG		0.348	TTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041316.2			20	42	0	0	0	1	0	20	42				
PLAC9	219348	broad.mit.edu	37	10	81901857	81901857	+	Silent	SNP	T	T	A			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr10:81901857T>A	ENST00000372263.3	+	2	126	c.84T>A	c.(82-84)ccT>ccA	p.P28P	PLAC9_ENST00000372270.2_5'UTR|PLAC9_ENST00000372267.2_Silent_p.P28P	NM_001012973.1	NP_001012991.1	Q5JTB6	PLAC9_HUMAN	placenta-specific 9	28						extracellular region (GO:0005576)				kidney(1)|ovary(1)	2	Prostate(51;0.0095)|all_epithelial(25;0.175)		Colorectal(32;0.109)			CCTTCAGCCCTCCGCGAGGAG	0.532																																						ENST00000372263.3																			0				kidney(1)|ovary(1)	2						c.(82-84)ccT>ccA		placenta-specific 9							77.0	61.0	66.0					10																	81901857		2203	4300	6503	SO:0001819	synonymous_variant	219348					extracellular region		g.chr10:81901857T>A		CCDS31232.1	10q23.2	2008-02-04			ENSG00000189129	ENSG00000189129			19255	protein-coding gene	gene with protein product		612857					Standard	NM_001012973		Approved		uc001kbp.1	Q5JTB6	OTTHUMG00000018596	ENST00000372263.3:c.84T>A	10.37:g.81901857T>A						PLAC9_ENST00000372267.2_Silent_p.P28P|PLAC9_ENST00000372270.2_5'UTR	p.P28P	NM_001012973.1	NP_001012991.1	Q5JTB6	PLAC9_HUMAN	Colorectal(32;0.109)		2	126	+	Prostate(51;0.0095)|all_epithelial(25;0.175)		28						Silent	SNP	ENST00000372263.3	37	c.84T>A	CCDS31232.1																																																																																				0.532	PLAC9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049019.1	NM_001012973		8	51	0	0	0	1	0	8	51				
PGK2	5232	broad.mit.edu	37	6	49754106	49754106	+	Silent	SNP	G	G	A			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr6:49754106G>A	ENST00000304801.3	-	1	947	c.795C>T	c.(793-795)atC>atT	p.I265I		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	265					glycolytic process (GO:0006096)|phosphorylation (GO:0016310)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)	ATP binding (GO:0005524)|phosphoglycerate kinase activity (GO:0004618)			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					TATCTTTAACGATCTTGGCTC	0.418																																						ENST00000304801.3																			0				autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47						c.(793-795)atC>atT		phosphoglycerate kinase 2							136.0	128.0	130.0					6																	49754106		2203	4300	6503	SO:0001819	synonymous_variant	5232				glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity	g.chr6:49754106G>A	K03019	CCDS4930.1	6p12.3	2012-09-20		2002-04-19	ENSG00000170950	ENSG00000170950			8898	protein-coding gene	gene with protein product		172270				3839763, 3453121	Standard	NM_138733		Approved	PGKPS, PGK-2	uc003ozu.3	P07205	OTTHUMG00000014824	ENST00000304801.3:c.795C>T	6.37:g.49754106G>A							p.I265I	NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN			1	947	-	Lung NSC(77;0.0402)		265					B2R6Y8|Q9H107	Silent	SNP	ENST00000304801.3	37	c.795C>T	CCDS4930.1																																																																																				0.418	PGK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040872.1			26	143	0	0	0	1	0	26	143				
CSMD3	114788	broad.mit.edu	37	8	113347659	113347659	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr8:113347659C>T	ENST00000297405.5	-	45	7308	c.7064G>A	c.(7063-7065)gGc>gAc	p.G2355D	CSMD3_ENST00000343508.3_Missense_Mutation_p.G2315D|CSMD3_ENST00000455883.2_Missense_Mutation_p.G2251D|CSMD3_ENST00000352409.3_Missense_Mutation_p.G2285D	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2355	CUB 13. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AGCGGTATTGCCACTGAACTG	0.413										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(7063-7065)gGc>gAc		CUB and Sushi multiple domains 3							136.0	122.0	127.0					8																	113347659		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113347659C>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.7064G>A	8.37:g.113347659C>T	ENSP00000297405:p.Gly2355Asp	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000352409.3_Missense_Mutation_p.G2285D|CSMD3_ENST00000343508.3_Missense_Mutation_p.G2315D|CSMD3_ENST00000455883.2_Missense_Mutation_p.G2251D	p.G2355D	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			45	7308	-			2355			CUB 13.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.7064G>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.261306	0.80246	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13;-0.13	4.78	4.78	0.61160	CUB (5);	0.000000	0.64402	D	0.000001	T	0.81178	0.4768	M	0.85099	2.735	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.997	T	0.80843	-0.1201	10	0.35671	T	0.21	.	18.3494	0.90333	0.0:1.0:0.0:0.0	.	2251;2355;2315	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	D	2315;2355;1625;2251;2285	ENSP00000345799:G2315D;ENSP00000297405:G2355D;ENSP00000341558:G1625D;ENSP00000412263:G2251D;ENSP00000343124:G2285D	ENSP00000297405:G2355D	G	-	2	0	CSMD3	113416835	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.548000	0.82154	2.649000	0.89929	0.585000	0.79938	GGC		0.413	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		4	99	0	0	0	1	0	4	99				
BBS12	166379	broad.mit.edu	37	4	123664898	123664898	+	Silent	SNP	A	A	G	rs369934327		TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr4:123664898A>G	ENST00000314218.3	+	2	2044	c.1851A>G	c.(1849-1851)acA>acG	p.T617T	BBS12_ENST00000542236.1_Silent_p.T617T	NM_152618.2	NP_689831.2	Q6ZW61	BBS12_HUMAN	Bardet-Biedl syndrome 12	617					cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|eating behavior (GO:0042755)|intraciliary transport (GO:0042073)|negative regulation of fat cell differentiation (GO:0045599)|photoreceptor cell maintenance (GO:0045494)	cilium (GO:0005929)	ATP binding (GO:0005524)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						AAGCCAGCACATACATTCAAC	0.363									Bardet-Biedl syndrome																													ENST00000542236.1																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						c.(1849-1851)acA>acG		Bardet-Biedl syndrome 12		A	,	0,4406		0,0,2203	89.0	86.0	87.0		1851,1851	-2.8	0.0	4		87	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	BBS12	NM_001178007.1,NM_152618.2	,	0,2,6501	GG,GA,AA		0.0233,0.0,0.0154	,	617/711,617/711	123664898	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	166379	Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	cellular protein metabolic process	cilium	ATP binding	g.chr4:123664898A>G	AK123553	CCDS3728.1	4q27	2014-06-17	2006-12-13	2006-12-13	ENSG00000181004	ENSG00000181004		"""Heat Shock Proteins / Chaperonins"""	26648	protein-coding gene	gene with protein product		610683	"""chromosome 4 open reading frame 24"""	C4orf24		17160889	Standard	NM_001178007		Approved	FLJ35630, FLJ41559	uc003ieu.3	Q6ZW61	OTTHUMG00000133070	ENST00000314218.3:c.1851A>G	4.37:g.123664898A>G						BBS12_ENST00000314218.3_Silent_p.T617T	p.T617T	NM_001178007.1	NP_001171478.1	Q6ZW61	BBS12_HUMAN			3	2232	+			617					D3DNX5|Q7Z342|Q7Z482|Q8NAB8	Silent	SNP	ENST00000314218.3	37	c.1851A>G	CCDS3728.1																																																																																				0.363	BBS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256710.1	NM_152618		12	40	0	0	0	1	0	12	40				
POTEE	445582	broad.mit.edu	37	2	131981311	131981311	+	Intron	SNP	G	G	A			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr2:131981311G>A	ENST00000356920.5	+	2	730				PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_Missense_Mutation_p.E222K|PLEKHB2_ENST00000404460.1_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E						retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											ATATCAGCATGAGGTGGGTTT	0.358																																						ENST00000358087.5																			0											c.(664-666)Gag>Aag		POTE ankyrin domain family, member E							9.0	12.0	11.0					2																	131981311		1437	3171	4608	SO:0001627	intron_variant	445582						ATP binding	g.chr2:131981311G>A	AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33895	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 2"""	608914	"""ANKRD26-like family C, member 1A"""	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.636+28G>A	2.37:g.131981311G>A						POTEE_ENST00000356920.5_Intron|PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron	p.E222K			Q6S8J3	POTEE_HUMAN			2	716	+			212					Q6S8J4|Q6S8J5|Q6S8J8	Missense_Mutation	SNP	ENST00000356920.5	37	c.664G>A	CCDS46414.1	.	.	.	.	.	.	.	.	.	.	.	5.334	0.246905	0.10130	.	.	ENSG00000188219	ENST00000358087	T	0.52754	0.65	1.16	1.16	0.20824	.	.	.	.	.	T	0.34279	0.0892	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.24190	-1.0167	5	.	.	.	.	5.7399	0.18087	0.0:0.0:1.0:0.0	.	.	.	.	K	222	ENSP00000443049:E222K	.	E	+	1	0	AC131180.1	131697781	0.000000	0.05858	0.002000	0.10522	0.022000	0.10575	0.239000	0.18023	0.945000	0.37605	0.162000	0.16502	GAG		0.358	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001083538		6	29	0	0	0	1	0	6	29				
TRIP6	7205	broad.mit.edu	37	7	100465834	100465834	+	Silent	SNP	G	G	A			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr7:100465834G>A	ENST00000200457.4	+	3	702	c.342G>A	c.(340-342)gcG>gcA	p.A114A		NM_003302.2	NP_003293.2	Q15654	TRIP6_HUMAN	thyroid hormone receptor interactor 6	114					focal adhesion assembly (GO:0048041)|positive regulation of cell migration (GO:0030335)|regulation of transcription, DNA-templated (GO:0006355)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|kinase binding (GO:0019900)|poly(A) RNA binding (GO:0044822)|thyroid hormone receptor binding (GO:0046966)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|liver(1)|lung(5)	14	Lung NSC(181;0.041)|all_lung(186;0.0581)					GGGGTCATGCGTCACGGCGAC	0.662																																						ENST00000200457.4																			0				breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|liver(1)|lung(5)	14						c.(340-342)gcG>gcA		thyroid hormone receptor interactor 6							39.0	39.0	39.0					7																	100465834		2203	4300	6503	SO:0001819	synonymous_variant	7205				focal adhesion assembly|positive regulation of cell migration|regulation of transcription, DNA-dependent|release of cytoplasmic sequestered NF-kappaB|transcription, DNA-dependent	cytoplasm|cytoskeleton|focal adhesion|nucleus	identical protein binding|interleukin-1 receptor binding|kinase binding|thyroid hormone receptor binding|zinc ion binding	g.chr7:100465834G>A	L40374, AF000974	CCDS5708.1	7q22	2006-09-05			ENSG00000087077	ENSG00000087077			12311	protein-coding gene	gene with protein product		602933				9598321, 7776974	Standard	NM_003302		Approved	ZRP-1, OIP1, MGC10556, MGC10558, MGC29959, MGC3837, MGC4423	uc003uww.3	Q15654	OTTHUMG00000157029	ENST00000200457.4:c.342G>A	7.37:g.100465834G>A							p.A114A	NM_003302.2	NP_003293.2	Q15654	TRIP6_HUMAN			3	702	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		114					A4D2E7|F2ZC07|F2ZC08|O15170|O15275|Q9BTB2|Q9BUE5|Q9BXP3|Q9UNT4	Silent	SNP	ENST00000200457.4	37	c.342G>A	CCDS5708.1																																																																																				0.662	TRIP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347151.2	NM_003302		19	40	0	0	0	1	0	19	40				
CROCC	9696	broad.mit.edu	37	1	17264170	17264170	+	Missense_Mutation	SNP	G	G	C	rs141704732	byFrequency	TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr1:17264170G>C	ENST00000375541.5	+	10	1297	c.1228G>C	c.(1228-1230)Gag>Cag	p.E410Q	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin											breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GAAGCGTCTTGAGAAGCAGAA	0.572													c|||	2	0.000399361	0.0008	0.0014	5008	,	,		28638	0.0		0.0	False		,,,				2504	0.0					ENST00000375541.5																			0				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62						c.(1228-1230)Gag>Cag		ciliary rootlet coiled-coil, rootletin							50.0	39.0	43.0					1																	17264170		2203	4300	6503	SO:0001583	missense	9696				cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity	g.chr1:17264170G>C	AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"""rootletin, ciliary rootlet protein"""	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.1228G>C	1.37:g.17264170G>C	ENSP00000364691:p.Glu410Gln					CROCC_ENST00000467938.1_3'UTR	p.E410Q	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)	10	1297	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)	410						Missense_Mutation	SNP	ENST00000375541.5	37	c.1228G>C	CCDS30616.1	.	.	.	.	.	.	.	.	.	.	C	6.035	0.374806	0.11409	.	.	ENSG00000058453	ENST00000375541;ENST00000445545	T	0.07800	3.16	4.11	4.11	0.48088	.	.	.	.	.	T	0.01835	0.0058	N	0.00186	-1.895	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.34950	-0.9808	9	0.02654	T	1	.	11.4042	0.49887	0.0:0.8165:0.1835:0.0	.	273;273;410	A1L0S8;A1L0S9;Q5TZA2	.;.;CROCC_HUMAN	Q	410;291	ENSP00000364691:E410Q	ENSP00000364691:E410Q	E	+	1	0	CROCC	17136757	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	1.288000	0.33296	1.097000	0.41459	-0.216000	0.12614	GAG		0.572	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006249.2	NM_014675		5	30	0	0	0	1	0	5	30				
DPYS	1807	broad.mit.edu	37	8	105459580	105459580	+	Missense_Mutation	SNP	T	T	A			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr8:105459580T>A	ENST00000351513.2	-	3	707	c.575A>T	c.(574-576)cAt>cTt	p.H192L		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	192					beta-alanine metabolic process (GO:0019482)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein homotetramerization (GO:0051289)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymine catabolic process (GO:0006210)|uracil catabolic process (GO:0006212)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|dihydropyrimidinase activity (GO:0004157)|thymine binding (GO:0002059)|uracil binding (GO:0002058)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			ATTTTCCGCATGGACCTGGGC	0.453																																						ENST00000351513.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(574-576)cAt>cTt		dihydropyrimidinase							117.0	108.0	111.0					8																	105459580		2203	4300	6503	SO:0001583	missense	1807				protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding	g.chr8:105459580T>A	D78011	CCDS6302.1	8q22	2004-01-22			ENSG00000147647	ENSG00000147647			3013	protein-coding gene	gene with protein product		613326				8973361	Standard	NM_001385		Approved	DHPase	uc003yly.4	Q14117	OTTHUMG00000164891	ENST00000351513.2:c.575A>T	8.37:g.105459580T>A	ENSP00000276651:p.His192Leu						p.H192L	NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)		3	707	-			192						Missense_Mutation	SNP	ENST00000351513.2	37	c.575A>T	CCDS6302.1	.	.	.	.	.	.	.	.	.	.	T	29.5	5.012612	0.93346	.	.	ENSG00000147647	ENST00000351513;ENST00000521573	D;D	0.94000	-3.33;-3.33	6.02	6.02	0.97574	Amidohydrolase 1 (1);	0.000000	0.85682	D	0.000000	D	0.98131	0.9383	H	0.98111	4.15	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99509	1.0955	10	0.72032	D	0.01	-21.9805	16.5494	0.84464	0.0:0.0:0.0:1.0	.	192	Q14117	DPYS_HUMAN	L	192;139	ENSP00000276651:H192L;ENSP00000430246:H139L	ENSP00000276651:H192L	H	-	2	0	DPYS	105528756	1.000000	0.71417	0.962000	0.40283	0.857000	0.48899	7.698000	0.84413	2.299000	0.77371	0.528000	0.53228	CAT		0.453	DPYS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380814.1	NM_001385		6	103	0	0	0	1	0	6	103				
ACTRT1	139741	broad.mit.edu	37	X	127185376	127185376	+	Silent	SNP	G	G	T			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chrX:127185376G>T	ENST00000371124.3	-	1	1006	c.810C>A	c.(808-810)atC>atA	p.I270I		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	270						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						CTGGGCTGTGGATGCCCAGCT	0.512																																						ENST00000371124.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						c.(808-810)atC>atA		actin-related protein T1							109.0	103.0	105.0					X																	127185376		2203	4300	6503	SO:0001819	synonymous_variant	139741					cytoplasm|cytoskeleton		g.chrX:127185376G>T	AF440739	CCDS14611.1	Xq25	2008-02-05	2005-11-22		ENSG00000123165	ENSG00000123165			24027	protein-coding gene	gene with protein product		300487				12243744	Standard	NM_138289		Approved	AIP1, KIAA0705, ARIP1, Arp-T1	uc004eum.3	Q8TDG2	OTTHUMG00000022359	ENST00000371124.3:c.810C>A	X.37:g.127185376G>T							p.I270I	NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN			1	1006	-			270					Q6X7C1|Q96L10	Silent	SNP	ENST00000371124.3	37	c.810C>A	CCDS14611.1																																																																																				0.512	ACTRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058192.1	NM_138289		49	27	1	0	1.51926e-22	1	1.6265e-22	49	27				
CARD11	84433	broad.mit.edu	37	7	2963945	2963945	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr7:2963945G>A	ENST00000396946.4	-	15	2265	c.1862C>T	c.(1861-1863)tCc>tTc	p.S621F		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	621					Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TTGGTGGGAGGAGGAGGAGGA	0.607			Mis		DLBCL																																	ENST00000396946.4				Dom	yes		7	7p22	84433	Mis	"""caspase recruitment domain family, member 11"""			L			DLBCL		0				NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150						c.(1861-1863)tCc>tTc		caspase recruitment domain family, member 11							80.0	68.0	72.0					7																	2963945		2203	4300	6503	SO:0001583	missense	84433				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	g.chr7:2963945G>A	AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"""card-maguk protein 1"", ""bcl10-interacting maguk protein 3"""	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.1862C>T	7.37:g.2963945G>A	ENSP00000380150:p.Ser621Phe						p.S621F	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)	15	2265	-		Ovarian(82;0.0115)	621					A4D1Z7|Q2NKN7|Q548H3	Missense_Mutation	SNP	ENST00000396946.4	37	c.1862C>T	CCDS5336.2	.	.	.	.	.	.	.	.	.	.	G	24.9	4.585436	0.86748	.	.	ENSG00000198286	ENST00000396946;ENST00000355508	T;T	0.54279	0.58;0.58	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.59797	0.2220	N	0.19112	0.55	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.65878	-0.6061	10	0.87932	D	0	-26.4469	16.815	0.85732	0.0:0.0:1.0:0.0	.	621	Q9BXL7	CAR11_HUMAN	F	621;92	ENSP00000380150:S621F;ENSP00000347695:S92F	ENSP00000347695:S92F	S	-	2	0	CARD11	2930471	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	8.800000	0.91900	2.416000	0.81992	0.555000	0.69702	TCC		0.607	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4	NM_032415		27	63	0	0	0	1	0	27	63				
BMS1P20	96610	broad.mit.edu	37	22	22664606	22664606	+	RNA	SNP	A	A	G	rs187344612		TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr22:22664606A>G	ENST00000426066.1	+	0	787					NR_027293.1				BMS1 pseudogene 20																		GTCTTCATGCAAACTTGGTAT	0.398																																						ENST00000426066.1																			0																																																			0							g.chr22:22664606A>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664606A>G								NR_027293.1						0	787	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.398	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			3	10	0	0	0	1	0	3	10				
SRP72	6731	broad.mit.edu	37	4	57340270	57340270	+	Silent	SNP	C	C	T	rs201653221		TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr4:57340270C>T	ENST00000342756.5	+	4	1126	c.405C>T	c.(403-405)ctC>ctT	p.L135L	SRP72_ENST00000504757.1_Silent_p.L135L|SRP72_ENST00000510663.1_Silent_p.L135L	NM_006947.3	NP_008878.3	O76094	SRP72_HUMAN	signal recognition particle 72kDa	135					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2)	22	Glioma(25;0.08)|all_neural(26;0.101)					ATAGAGATCTCGTCCGAAACT	0.378																																						ENST00000342756.5																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2)	22						c.(403-405)ctC>ctT		signal recognition particle 72kDa							93.0	89.0	90.0					4																	57340270		2203	4300	6503	SO:0001819	synonymous_variant	6731				response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|nucleolus|plasma membrane|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|signal recognition particle binding	g.chr4:57340270C>T	AF069765	CCDS3506.1, CCDS58898.1	4q11	2013-01-10	2002-08-29		ENSG00000174780	ENSG00000174780		"""Tetratricopeptide (TTC) repeat domain containing"""	11303	protein-coding gene	gene with protein product		602122	"""signal recognition particle 72kD"""			9224693, 9857079	Standard	NM_006947		Approved		uc003hbv.3	O76094	OTTHUMG00000128843	ENST00000342756.5:c.405C>T	4.37:g.57340270C>T						SRP72_ENST00000504757.1_Silent_p.L135L|SRP72_ENST00000510663.1_Silent_p.L135L	p.L135L	NM_006947.3	NP_008878.3	O76094	SRP72_HUMAN			4	1126	+	Glioma(25;0.08)|all_neural(26;0.101)		135					G5E9Z8|Q7Z3C0	Silent	SNP	ENST00000342756.5	37	c.405C>T	CCDS3506.1																																																																																				0.378	SRP72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250782.7			9	205	0	0	0	1	0	9	205				
NUDT19	390916	broad.mit.edu	37	19	33183087	33183087	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr19:33183087C>T	ENST00000397061.3	+	1	221	c.221C>T	c.(220-222)gCg>gTg	p.A74V	CTD-2538C1.2_ENST00000592431.1_lincRNA	NM_001105570.1	NP_001099040.1	A8MXV4	NUD19_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 19	74	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.					mitochondrion (GO:0005739)|peroxisome (GO:0005777)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	Esophageal squamous(110;0.137)					GACCGCTCGGCGGACTGGCTG	0.751																																						ENST00000397061.3																			0				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8						c.(220-222)gCg>gTg		nudix (nucleoside diphosphate linked moiety X)-type motif 19							5.0	6.0	5.0					19																	33183087		1329	3128	4457	SO:0001583	missense	390916					mitochondrion|peroxisome	hydrolase activity|metal ion binding	g.chr19:33183087C>T		CCDS42543.1	19q13.11	2011-11-16			ENSG00000213965	ENSG00000213965		"""Nudix motif containing"""	32036	protein-coding gene	gene with protein product							Standard	NM_001105570		Approved	RP2	uc010edf.3	A8MXV4		ENST00000397061.3:c.221C>T	19.37:g.33183087C>T	ENSP00000380251:p.Ala74Val						p.A74V	NM_001105570.1	NP_001099040.1	A8MXV4	NUD19_HUMAN			1	221	+	Esophageal squamous(110;0.137)		74			Nudix hydrolase.			Missense_Mutation	SNP	ENST00000397061.3	37	c.221C>T	CCDS42543.1	.	.	.	.	.	.	.	.	.	.	C	12.60	1.987759	0.35036	.	.	ENSG00000213965	ENST00000397061	T	0.21932	1.98	4.12	3.06	0.35304	NUDIX hydrolase domain (3);NUDIX hydrolase domain-like (1);	0.480260	0.18317	U	0.144929	T	0.12987	0.0315	N	0.25332	0.735	0.09310	N	1	P	0.44429	0.835	B	0.38655	0.278	T	0.11397	-1.0589	10	0.29301	T	0.29	-0.0659	9.0774	0.36531	0.1669:0.6718:0.1612:0.0	.	74	A8MXV4	NUD19_HUMAN	V	74	ENSP00000380251:A74V	ENSP00000380251:A74V	A	+	2	0	NUDT19	37874927	0.276000	0.24211	0.024000	0.17045	0.070000	0.16714	1.894000	0.39768	1.031000	0.39867	0.313000	0.20887	GCG		0.751	NUDT19-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000450338.3	XM_372723		9	30	0	0	0	1	0	9	30				
CDC14B	8555	broad.mit.edu	37	9	99296298	99296298	+	Missense_Mutation	SNP	G	G	A	rs199974150	byFrequency	TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr9:99296298G>A	ENST00000375241.1	-	9	1308	c.857C>T	c.(856-858)gCg>gTg	p.A286V	CDC14B_ENST00000265659.2_Missense_Mutation_p.A286V|CDC14B_ENST00000375240.3_Missense_Mutation_p.A286V|CDC14B_ENST00000463569.1_Missense_Mutation_p.A286V|CDC14B_ENST00000375236.1_Missense_Mutation_p.A286V|CDC14B_ENST00000375242.3_Missense_Mutation_p.A249V	NM_003671.3|NM_033331.2	NP_003662.1|NP_201588.1	O60729	CC14B_HUMAN	cell division cycle 14B	286	B.				activation of anaphase-promoting complex activity (GO:0051488)|DNA repair (GO:0006281)|G2 DNA damage checkpoint (GO:0031572)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	15		Acute lymphoblastic leukemia(62;0.0559)				GCTGCCATCCGCAAAGAAAAG	0.413													G|||	2	0.000399361	0.0008	0.0	5008	,	,		19380	0.001		0.0	False		,,,				2504	0.0					ENST00000375241.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	15						c.(856-858)gCg>gTg		cell division cycle 14B							47.0	43.0	45.0					9																	99296298		2203	4300	6503	SO:0001583	missense	8555				activation of anaphase-promoting complex activity|DNA repair|G2/M transition DNA damage checkpoint	nucleolus|nucleoplasm	protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr9:99296298G>A	AF023158	CCDS6721.1, CCDS6722.1, CCDS43853.1	9q22.3	2013-01-17	2013-01-17		ENSG00000081377	ENSG00000081377		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"""	1719	protein-coding gene	gene with protein product		603505	"""CDC14 (cell division cycle 14, S. cerevisiae) homolog B"", ""CDC14 cell division cycle 14 homolog B (S. cerevisiae)"""			9367992	Standard	NM_003671		Approved	Cdc14B1, Cdc14B2, CDC14B3, hCDC14B	uc004awj.3	O60729	OTTHUMG00000020300	ENST00000375241.1:c.857C>T	9.37:g.99296298G>A	ENSP00000364389:p.Ala286Val					CDC14B_ENST00000265659.2_Missense_Mutation_p.A286V|CDC14B_ENST00000375242.3_Missense_Mutation_p.A249V|CDC14B_ENST00000463569.1_Missense_Mutation_p.A286V|CDC14B_ENST00000375240.3_Missense_Mutation_p.A286V|CDC14B_ENST00000375236.1_Missense_Mutation_p.A286V	p.A286V	NM_003671.3|NM_033331.2	NP_003662.1|NP_201588.1	O60729	CC14B_HUMAN			9	1308	-		Acute lymphoblastic leukemia(62;0.0559)	286			B.		A6N5X8|A8MQ20|B1AL31|B1AL32|O43183|O60730|Q5JU08	Missense_Mutation	SNP	ENST00000375241.1	37	c.857C>T	CCDS6722.1	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	1	0.0017482517482517483	0	0.0	G	6.110	0.388581	0.11581	.	.	ENSG00000081377	ENST00000265659;ENST00000375241;ENST00000375240;ENST00000375242;ENST00000463569;ENST00000375236	T;T;T;T;T;T	0.21734	1.99;1.99;1.99;1.99;1.99;1.99	5.32	3.48	0.39840	Dual specificity phosphatase, catalytic domain (1);	0.120140	0.64402	D	0.000017	T	0.06050	0.0157	N	0.02315	-0.6	0.32525	N	0.535767	B;B;B	0.12013	0.001;0.001;0.005	B;B;B	0.04013	0.0;0.0;0.001	T	0.33675	-0.9859	10	0.02654	T	1	-9.7128	6.7921	0.23705	0.1438:0.0:0.7125:0.1437	.	286;286;249	O60729-2;O60729;A8MQ20	.;CC14B_HUMAN;.	V	286;286;286;249;286;286	ENSP00000265659:A286V;ENSP00000364389:A286V;ENSP00000364388:A286V;ENSP00000364390:A249V;ENSP00000420572:A286V;ENSP00000364384:A286V	ENSP00000265659:A286V	A	-	2	0	CDC14B	98336119	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	5.141000	0.64814	0.810000	0.34279	-0.291000	0.09656	GCG		0.413	CDC14B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053278.2	NM_033331		3	32	0	0	0	1	0	3	32				
ATRX	546	broad.mit.edu	37	X	76940500	76940500	+	Splice_Site	SNP	T	T	G			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chrX:76940500T>G	ENST00000373344.5	-	8	809		c.e8-2		ATRX_ENST00000395603.3_Splice_Site|ATRX_ENST00000480283.1_Splice_Site	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked						ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						AAAGCAATTCTATTAAAAGAA	0.294			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.e8-2		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						92.0	86.0	88.0					X																	76940500		2203	4294	6497	SO:0001630	splice_region_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76940500T>G	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.595-2A>C	X.37:g.76940500T>G						ATRX_ENST00000480283.1_Splice_Site|ATRX_ENST00000395603.3_Splice_Site		NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			8	809	-								D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Splice_Site	SNP	ENST00000373344.5	37		CCDS14434.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.146036	0.77888	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	.	.	.	5.24	5.24	0.73138	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3803	0.66907	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ATRX	76827156	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	5.328000	0.65887	1.844000	0.53588	0.345000	0.21793	.		0.294	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489	Intron	44	5	0	0	0	1	0	44	5				
TP53	7157	broad.mit.edu	37	17	7578394	7578394	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr17:7578394T>C	ENST00000269305.4	-	5	725	c.536A>G	c.(535-537)cAt>cGt	p.H179R	TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.H179R|TP53_ENST00000455263.2_Missense_Mutation_p.H179R|TP53_ENST00000420246.2_Missense_Mutation_p.H179R|TP53_ENST00000445888.2_Missense_Mutation_p.H179R|TP53_ENST00000359597.4_Missense_Mutation_p.H179R	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	179	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.H179R(108)|p.H179L(43)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47L(4)|p.H86L(4)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.H86R(2)|p.H47R(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.E171fs*61(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCAGCGCTCATGGTGGGGGCA	0.642		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		217	Substitution - Missense(166)|Deletion - In frame(24)|Deletion - Frameshift(18)|Whole gene deletion(8)|Complex - deletion inframe(1)	p.H179R(108)|p.H179L(43)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47L(4)|p.H86L(4)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.H86R(2)|p.H47R(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.E171fs*61(1)	lung(35)|breast(32)|large_intestine(29)|upper_aerodigestive_tract(26)|oesophagus(21)|ovary(21)|central_nervous_system(16)|haematopoietic_and_lymphoid_tissue(8)|urinary_tract(6)|pancreas(6)|liver(5)|bone(4)|biliary_tract(3)|cervix(1)|stomach(1)|endometrium(1)|salivary_gland(1)|skin(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(535-537)cAt>cGt	Other conserved DNA damage response genes	tumor protein p53							47.0	47.0	47.0					17																	7578394		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578394T>C	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.536A>G	17.37:g.7578394T>C	ENSP00000269305:p.His179Arg	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000359597.4_Missense_Mutation_p.H179R|TP53_ENST00000455263.2_Missense_Mutation_p.H179R|TP53_ENST00000445888.2_Missense_Mutation_p.H179R|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000269305.4_Missense_Mutation_p.H179R|TP53_ENST00000413465.2_Missense_Mutation_p.H179R	p.H179R	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	668	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	179		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.536A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.694391	0.88830	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99909	-7.87;-7.87;-7.87;-7.87;-7.87;-7.87;-7.87;-7.87	5.47	5.47	0.80525	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.048592	0.85682	D	0.000000	D	0.99917	0.9961	M	0.92507	3.315	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.989;1.0;0.985;1.0;0.995;1.0;0.996	D;D;D;D;D;D;D	0.97110	0.929;0.996;0.912;1.0;0.985;0.995;0.937	D	0.95874	0.8893	10	0.87932	D	0	-15.4889	13.8032	0.63214	0.0:0.0:0.0:1.0	.	140;179;179;86;179;179;179	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	R	179;179;179;179;179;179;168;86;47;86;47	ENSP00000410739:H179R;ENSP00000352610:H179R;ENSP00000269305:H179R;ENSP00000398846:H179R;ENSP00000391127:H179R;ENSP00000391478:H179R;ENSP00000425104:H47R;ENSP00000423862:H86R	ENSP00000269305:H179R	H	-	2	0	TP53	7519119	1.000000	0.71417	0.945000	0.38365	0.856000	0.48823	6.263000	0.72521	2.208000	0.71279	0.460000	0.39030	CAT		0.642	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		72	9	0	0	0	1	0	72	9				
RGS12	6002	broad.mit.edu	37	4	3318009	3318009	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr4:3318009G>A	ENST00000344733.5	+	2	1016	c.112G>A	c.(112-114)Gga>Aga	p.G38R	RGS12_ENST00000382788.3_Missense_Mutation_p.G38R|RGS12_ENST00000336727.3_Missense_Mutation_p.G38R|RGS12_ENST00000543385.1_Missense_Mutation_p.G38R	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	38	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				positive regulation of GTPase activity (GO:0043547)|regulation of catalytic activity (GO:0050790)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|GTPase regulator activity (GO:0030695)|receptor signaling protein activity (GO:0005057)			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CACGCTTTCGGGACAGGCACC	0.637																																						ENST00000336727.3																			0				autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(112-114)Gga>Aga		regulator of G-protein signaling 12							58.0	59.0	59.0					4																	3318009		2203	4300	6503	SO:0001583	missense	6002					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity	g.chr4:3318009G>A	AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788		"""Regulators of G-protein signaling"""	9994	protein-coding gene	gene with protein product		602512	"""regulator of G-protein signalling 12"""			9651375	Standard	NM_198229		Approved		uc003ggw.3	O14924	OTTHUMG00000090277	ENST00000344733.5:c.112G>A	4.37:g.3318009G>A	ENSP00000339381:p.Gly38Arg					RGS12_ENST00000543385.1_Missense_Mutation_p.G38R|RGS12_ENST00000382788.3_Missense_Mutation_p.G38R|RGS12_ENST00000344733.5_Missense_Mutation_p.G38R	p.G38R	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	2	1016	+			38			PDZ.		B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Missense_Mutation	SNP	ENST00000344733.5	37	c.112G>A	CCDS3366.1	.	.	.	.	.	.	.	.	.	.	G	18.88	3.717932	0.68844	.	.	ENSG00000159788	ENST00000543385;ENST00000344733;ENST00000336727;ENST00000382788	T;T;T;T	0.59224	0.28;0.28;0.28;0.28	4.71	4.71	0.59529	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.73791	0.3632	M	0.63843	1.955	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.77528	-0.2554	10	0.87932	D	0	-27.9913	16.6574	0.85232	0.0:0.0:1.0:0.0	.	38;38;38	Q8WX97;O14924;O14924-4	.;RGS12_HUMAN;.	R	38	ENSP00000440566:G38R;ENSP00000339381:G38R;ENSP00000338509:G38R;ENSP00000372238:G38R	ENSP00000338509:G38R	G	+	1	0	RGS12	3287807	1.000000	0.71417	0.040000	0.18447	0.185000	0.23345	9.466000	0.97665	2.166000	0.68216	0.313000	0.20887	GGA		0.637	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206602.1	NM_002926		18	170	0	0	0	1	0	18	170				
LAD1	3898	broad.mit.edu	37	1	201352455	201352455	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr1:201352455G>A	ENST00000391967.2	-	6	1539	c.1238C>T	c.(1237-1239)aCg>aTg	p.T413M	LAD1_ENST00000367313.3_Missense_Mutation_p.T427M|LAD1_ENST00000488842.1_5'UTR	NM_005558.3	NP_005549.2	O00515	LAD1_HUMAN	ladinin 1	413						basement membrane (GO:0005604)	structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						CCGTATGGCCGTGTGGTATCT	0.597																																						ENST00000391967.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						c.(1237-1239)aCg>aTg		ladinin 1							168.0	150.0	156.0					1																	201352455		2203	4300	6503	SO:0001583	missense	3898					basement membrane	structural molecule activity	g.chr1:201352455G>A	U42408	CCDS1410.1	1q25.1-q32.3	2008-02-05			ENSG00000159166	ENSG00000159166			6472	protein-coding gene	gene with protein product		602314				8618013, 9119369	Standard	NM_005558		Approved		uc001gwm.3	O00515	OTTHUMG00000035737	ENST00000391967.2:c.1238C>T	1.37:g.201352455G>A	ENSP00000375829:p.Thr413Met					LAD1_ENST00000367313.3_Missense_Mutation_p.T427M|LAD1_ENST00000488842.1_5'UTR	p.T413M	NM_005558.3	NP_005549.2	O00515	LAD1_HUMAN			6	1539	-			413					O95614|Q96GD8	Missense_Mutation	SNP	ENST00000391967.2	37	c.1238C>T	CCDS1410.1	.	.	.	.	.	.	.	.	.	.	G	14.08	2.428663	0.43122	.	.	ENSG00000159166	ENST00000503578;ENST00000391967;ENST00000367313	T;T;T	0.51817	0.69;2.45;2.41	4.79	-1.96	0.07525	.	1.104190	0.06828	N	0.793372	T	0.56949	0.2020	M	0.63428	1.95	0.09310	N	1	D	0.89917	1.0	D	0.69824	0.966	T	0.48937	-0.8990	10	0.72032	D	0.01	-3.7262	1.0609	0.01600	0.3482:0.1478:0.3529:0.1511	.	413	O00515	LAD1_HUMAN	M	64;413;427	ENSP00000422687:T64M;ENSP00000375829:T413M;ENSP00000356282:T427M	ENSP00000356282:T427M	T	-	2	0	LAD1	199619078	0.904000	0.30761	0.003000	0.11579	0.061000	0.15899	1.728000	0.38105	-0.322000	0.08615	-0.305000	0.09177	ACG		0.597	LAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086946.1	NM_005558		64	181	0	0	0	1	0	64	181				
FAT3	120114	broad.mit.edu	37	11	92624025	92624025	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr11:92624025G>T	ENST00000298047.6	+	27	13533	c.13516G>T	c.(13516-13518)Gtg>Ttg	p.V4506L	FAT3_ENST00000525166.1_Missense_Mutation_p.V4356L|FAT3_ENST00000409404.2_Missense_Mutation_p.V4474L|FAT3_ENST00000533797.1_Missense_Mutation_p.V809L|FAT3_ENST00000489716.1_3'UTR			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4506	Pro-rich.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AACGGATTTGGTGGGCCCGCC	0.582										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(13516-13518)Gtg>Ttg		FAT atypical cadherin 3							41.0	43.0	42.0					11																	92624025		1969	4148	6117	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92624025G>T	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.13516G>T	11.37:g.92624025G>T	ENSP00000298047:p.Val4506Leu	TCGA Ovarian(4;0.039)				FAT3_ENST00000409404.2_Missense_Mutation_p.V4474L|FAT3_ENST00000533797.1_Missense_Mutation_p.V809L|FAT3_ENST00000489716.1_3'UTR|FAT3_ENST00000525166.1_Missense_Mutation_p.V4356L	p.V4506L			Q8TDW7	FAT3_HUMAN			27	13533	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	4506			Pro-rich.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.13516G>T		.	.	.	.	.	.	.	.	.	.	G	9.896	1.205517	0.22205	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166;ENST00000533797	T;T;T;D	0.85171	-0.77;-0.8;-0.78;-1.95	5.66	5.66	0.87406	.	.	.	.	.	T	0.76737	0.4029	N	0.25647	0.755	0.80722	D	1	B;B	0.14012	0.009;0.002	B;B	0.15052	0.006;0.012	T	0.70200	-0.4937	9	0.28530	T	0.3	.	13.4399	0.61106	0.0808:0.0:0.9192:0.0	.	4474;4506	Q8TDW7-3;Q8TDW7	.;FAT3_HUMAN	L	4506;4474;4356;809	ENSP00000298047:V4506L;ENSP00000387040:V4474L;ENSP00000432586:V4356L;ENSP00000436399:V809L	ENSP00000298047:V4506L	V	+	1	0	FAT3	92263673	0.026000	0.19158	0.569000	0.28460	0.988000	0.76386	1.338000	0.33873	2.665000	0.90641	0.655000	0.94253	GTG		0.582	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		23	36	1	0	9.95505e-16	1	1.02944e-15	23	36				
NBEAL2	23218	broad.mit.edu	37	3	47038035	47038035	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr3:47038035T>C	ENST00000450053.3	+	16	2605	c.2426T>C	c.(2425-2427)tTt>tCt	p.F809S	NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Missense_Mutation_p.F809S	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	809					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		GTGGCCATCTTTCACGAAGCC	0.657																																						ENST00000450053.3																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(2425-2427)tTt>tCt		neurobeachin-like 2							11.0	13.0	12.0					3																	47038035		2063	4178	6241	SO:0001583	missense	23218						binding	g.chr3:47038035T>C	AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"""WD repeat domain containing"""	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.2426T>C	3.37:g.47038035T>C	ENSP00000415034:p.Phe809Ser					NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Missense_Mutation_p.F809S	p.F809S	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)	16	2605	+		Acute lymphoblastic leukemia(5;0.0534)	809					O60288|Q6P994|Q6UX91|Q8NAC9	Missense_Mutation	SNP	ENST00000450053.3	37	c.2426T>C	CCDS46817.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.35|17.35	3.367995|3.367995	0.61513|0.61513	.|.	.|.	ENSG00000160796|ENSG00000160796	ENST00000416683|ENST00000292309;ENST00000450053	T|T;T	0.74842|0.75367	-0.88|-0.93;-0.93	4.52|4.52	4.52|4.52	0.55395|0.55395	.|Concanavalin A-like lectin/glucanase (1);	0.057986|0.057986	0.64402|0.64402	D|D	0.000001|0.000001	D|D	0.83815|0.83815	0.5336|0.5336	M|M	0.71036|0.71036	2.16|2.16	0.80722|0.80722	D|D	1|1	.|D	.|0.76494	.|0.999	.|D	.|0.70016	.|0.967	D|D	0.85868|0.85868	0.1414|0.1414	8|10	0.39692|0.87932	T|D	0.17|0	.|.	12.8116|12.8116	0.57643|0.57643	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|809	.|Q6ZNJ1	.|NBEL2_HUMAN	L|S	281|809	ENSP00000410405:F281L|ENSP00000292309:F809S;ENSP00000415034:F809S	ENSP00000410405:F281L|ENSP00000292309:F809S	F|F	+|+	1|2	0|0	NBEAL2|NBEAL2	47013039|47013039	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.695000|0.695000	0.40330|0.40330	6.068000|6.068000	0.71201|0.71201	1.889000|1.889000	0.54706|0.54706	0.379000|0.379000	0.24179|0.24179	TTC|TTT		0.657	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344363.3	XM_291064		6	10	0	0	0	1	0	6	10				
DBNL	28988	broad.mit.edu	37	7	44097451	44097451	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr7:44097451A>G	ENST00000448521.1	+	6	643	c.545A>G	c.(544-546)aAa>aGa	p.K182R	DBNL_ENST00000440166.1_Missense_Mutation_p.K79R|DBNL_ENST00000452943.1_Missense_Mutation_p.K157R|DBNL_ENST00000494774.1_Missense_Mutation_p.K182R|DBNL_ENST00000456905.1_Missense_Mutation_p.K133R|DBNL_ENST00000490734.2_Missense_Mutation_p.K87R|DBNL_ENST00000468694.1_Missense_Mutation_p.K182R|DBNL_ENST00000497184.1_3'UTR	NM_001014436.2	NP_001014436.1	Q9UJU6	DBNL_HUMAN	drebrin-like	182					activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|endocytosis (GO:0006897)|immune system process (GO:0002376)|neuron projection morphogenesis (GO:0048812)|podosome assembly (GO:0071800)|Rac protein signal transduction (GO:0016601)|synapse assembly (GO:0007416)	cell cortex (GO:0005938)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|podosome (GO:0002102)|postsynaptic density (GO:0014069)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|enzyme activator activity (GO:0008047)			breast(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|stomach(1)	12						TTCTGGGCCAAAGCAGAGGTG	0.547																																					NSCLC(68;573 1327 18604 34760 37992)	ENST00000494774.1																			0				breast(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|stomach(1)	12						c.(544-546)aAa>aGa		drebrin-like							98.0	94.0	95.0					7																	44097451		2203	4300	6503	SO:0001583	missense	28988				activation of JUN kinase activity|cellular component disassembly involved in apoptosis|endocytosis|Rac protein signal transduction	cell cortex|cytoskeleton|cytosol|lamellipodium	actin binding|enzyme activator activity|identical protein binding	g.chr7:44097451A>G	AF151364	CCDS34622.1, CCDS34623.1, CCDS47579.1, CCDS64633.1, CCDS64634.1	7p13	2004-07-22			ENSG00000136279	ENSG00000136279			2696	protein-coding gene	gene with protein product		610106				10087302	Standard	NM_014063		Approved	SH3P7, HIP-55	uc003tjq.4	Q9UJU6	OTTHUMG00000155350	ENST00000448521.1:c.545A>G	7.37:g.44097451A>G	ENSP00000411701:p.Lys182Arg					DBNL_ENST00000448521.1_Missense_Mutation_p.K182R|DBNL_ENST00000456905.1_Missense_Mutation_p.K133R|DBNL_ENST00000440166.1_Missense_Mutation_p.K79R|DBNL_ENST00000490734.2_Missense_Mutation_p.K87R|DBNL_ENST00000497184.1_3'UTR|DBNL_ENST00000452943.1_Missense_Mutation_p.K157R|DBNL_ENST00000468694.1_Missense_Mutation_p.K182R	p.K182R	NM_014063.6	NP_054782.2	Q9UJU6	DBNL_HUMAN			6	566	+			182					A4D2I9|B4DEM2|C9J7P1|P84070|Q6IAI8|Q96F30|Q96K74|Q9HBN8|Q9NR72	Missense_Mutation	SNP	ENST00000448521.1	37	c.545A>G	CCDS34623.1	.	.	.	.	.	.	.	.	.	.	A	17.76	3.468294	0.63625	.	.	ENSG00000136279	ENST00000448521;ENST00000456905;ENST00000440166;ENST00000452943;ENST00000468694;ENST00000494774;ENST00000490734;ENST00000539475	T;T;T;T;T;T;T	0.31769	1.86;2.22;2.18;2.23;1.48;1.88;2.21	4.92	4.92	0.64577	.	0.045373	0.85682	D	0.000000	T	0.30823	0.0777	L	0.33245	0.995	0.53005	D	0.999966	P;P;B;P;B;P;P;B;B	0.50528	0.847;0.627;0.209;0.936;0.164;0.749;0.743;0.033;0.433	B;B;B;P;B;B;B;B;B	0.47299	0.219;0.219;0.09;0.543;0.108;0.219;0.392;0.035;0.392	T	0.04165	-1.0972	10	0.45353	T	0.12	-15.9682	14.5774	0.68258	1.0:0.0:0.0:0.0	.	79;130;112;133;87;157;182;182;182	B4DEM2;B4DXL9;B4DDU5;B4DDP6;C9J7P1;B4DDD6;Q9UJU6-3;Q9UJU6;Q9UJU6-2	.;.;.;.;.;.;.;DBNL_HUMAN;.	R	182;133;79;157;182;182;87;112	ENSP00000411701:K182R;ENSP00000416421:K133R;ENSP00000415173:K79R;ENSP00000405343:K157R;ENSP00000417653:K182R;ENSP00000419992:K182R;ENSP00000417749:K87R	ENSP00000415173:K79R	K	+	2	0	DBNL	44063976	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.056000	0.93881	1.985000	0.57927	0.454000	0.30748	AAA		0.547	DBNL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339572.2	NM_014063		27	41	0	0	0	1	0	27	41				
ZGRF1	55345	broad.mit.edu	37	4	113475127	113475127	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr4:113475127C>A	ENST00000505019.1	-	22	5335	c.5210G>T	c.(5209-5211)gGc>gTc	p.G1737V		NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		1737						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		ATTTTCTGAGCCAGCATGCAA	0.313																																						ENST00000505019.1																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(5209-5211)gGc>gTc		chromosome 4 open reading frame 21							125.0	127.0	126.0					4																	113475127		2203	4300	6503	SO:0001583	missense	55345							g.chr4:113475127C>A																												ENST00000505019.1:c.5210G>T	4.37:g.113475127C>A	ENSP00000424737:p.Gly1737Val						p.G1737V	NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000676)	22	5335	-		Ovarian(17;0.156)	0					B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Missense_Mutation	SNP	ENST00000505019.1	37	c.5210G>T		.	.	.	.	.	.	.	.	.	.	C	18.99	3.740144	0.69304	.	.	ENSG00000138658	ENST00000505019	D	0.82255	-1.59	5.75	5.75	0.90469	.	0.160394	0.42821	D	0.000650	D	0.86560	0.5962	L	0.41356	1.27	0.80722	D	1	D;P	0.64830	0.994;0.837	P;P	0.62813	0.907;0.674	T	0.82190	-0.0580	10	0.19590	T	0.45	-12.6058	19.9341	0.97130	0.0:1.0:0.0:0.0	.	1737;195	G5EA02;B3KQX2	.;.	V	1737	ENSP00000424737:G1737V	ENSP00000404365:G635V	G	-	2	0	C4orf21	113694576	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	5.251000	0.65438	2.711000	0.92665	0.563000	0.77884	GGC		0.313	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000256413.1			13	116	1	0	1.5739e-10	1	1.59138e-10	13	116				
TTBK2	146057	broad.mit.edu	37	15	43132589	43132589	+	Missense_Mutation	SNP	T	T	G			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr15:43132589T>G	ENST00000267890.6	-	4	368	c.260A>C	c.(259-261)gAt>gCt	p.D87A	TTBK2_ENST00000567840.1_Missense_Mutation_p.D87A|TTBK2_ENST00000567274.1_Missense_Mutation_p.D87A	NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	87	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell death (GO:0008219)|cilium assembly (GO:0042384)|peptidyl-serine phosphorylation (GO:0018105)|smoothened signaling pathway (GO:0007224)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		GTTGAATCGATCATTCCTCCC	0.323																																						ENST00000267890.6																			0				NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43						c.(259-261)gAt>gCt		tau tubulin kinase 2							133.0	127.0	129.0					15																	43132589		1825	4092	5917	SO:0001583	missense	146057				cell death		ATP binding|protein serine/threonine kinase activity	g.chr15:43132589T>G	AB020654	CCDS42029.1	15q15.2	2014-01-21			ENSG00000128881	ENSG00000128881			19141	protein-coding gene	gene with protein product		611695	"""spinocerebellar ataxia 11"""	SCA11		10048485	Standard	NM_173500		Approved	KIAA0847	uc001zqo.2	Q6IQ55	OTTHUMG00000175802	ENST00000267890.6:c.260A>C	15.37:g.43132589T>G	ENSP00000267890:p.Asp87Ala					TTBK2_ENST00000567840.1_Missense_Mutation_p.D87A|TTBK2_ENST00000567274.1_Missense_Mutation_p.D87A	p.D87A	NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN		GBM - Glioblastoma multiforme(94;3.23e-07)	4	368	-		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)	87			Protein kinase.		O94932|Q6ZN52|Q8IVV1	Missense_Mutation	SNP	ENST00000267890.6	37	c.260A>C	CCDS42029.1	.	.	.	.	.	.	.	.	.	.	T	15.85	2.955121	0.53293	.	.	ENSG00000128881	ENST00000267890;ENST00000399479;ENST00000263802	T	0.65916	-0.18	5.31	5.31	0.75309	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.043456	0.85682	D	0.000000	T	0.65760	0.2722	N	0.25825	0.765	0.80722	D	1	P;P;B;P	0.40515	0.719;0.699;0.365;0.581	P;P;B;P	0.54889	0.763;0.472;0.143;0.53	T	0.69964	-0.5002	10	0.87932	D	0	.	15.2175	0.73281	0.0:0.0:0.0:1.0	.	67;18;87;87	Q8IWY7;Q6IQ55-2;Q6IQ55-3;Q6IQ55	.;.;.;TTBK2_HUMAN	A	87;17;67	ENSP00000267890:D87A	ENSP00000263802:D67A	D	-	2	0	TTBK2	40919881	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.185000	0.77714	2.139000	0.66308	0.477000	0.44152	GAT		0.323	TTBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431106.2	NM_173500		5	207	0	0	0	1	0	5	207				
OR4S2	219431	broad.mit.edu	37	11	55419308	55419308	+	Missense_Mutation	SNP	G	G	T	rs541777788		TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr11:55419308G>T	ENST00000312422.2	+	1	929	c.929G>T	c.(928-930)gGg>gTg	p.G310V		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	310						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				GAGGCTAAAGGGAAATAGTTG	0.363																																						ENST00000312422.2																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(928-930)gGg>gTg		olfactory receptor, family 4, subfamily S, member 2							78.0	76.0	77.0					11																	55419308		2172	4003	6175	SO:0001583	missense	219431				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55419308G>T	BK004390	CCDS31505.1	11q11	2012-08-09	2002-11-13	2002-11-15	ENSG00000174982	ENSG00000174982		"""GPCR / Class A : Olfactory receptors"""	15183	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily S, member 2 pseudogene"""	OR4S2P			Standard	NM_001004059		Approved	OST725	uc001nhs.1	Q8NH73	OTTHUMG00000166799	ENST00000312422.2:c.929G>T	11.37:g.55419308G>T	ENSP00000310337:p.Gly310Val						p.G310V	NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN			1	929	+		all_epithelial(135;0.0748)	310					Q6IF72	Missense_Mutation	SNP	ENST00000312422.2	37	c.929G>T	CCDS31505.1	.	.	.	.	.	.	.	.	.	.	G	9.747	1.166455	0.21621	.	.	ENSG00000174982	ENST00000312422	T	0.08008	3.14	4.44	-2.67	0.06059	.	2.667330	0.01725	N	0.028541	T	0.04003	0.0112	N	0.08118	0	0.09310	N	0.999999	B	0.06786	0.001	B	0.04013	0.001	T	0.37056	-0.9722	10	0.45353	T	0.12	.	0.5667	0.00688	0.3691:0.1307:0.2739:0.2263	.	310	Q8NH73	OR4S2_HUMAN	V	310	ENSP00000310337:G310V	ENSP00000310337:G310V	G	+	2	0	OR4S2	55175884	0.010000	0.17322	0.000000	0.03702	0.029000	0.11900	0.731000	0.26058	-0.261000	0.09405	0.542000	0.68232	GGG		0.363	OR4S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391503.1	NM_001004059		62	85	1	0	1.38814e-16	1	1.45196e-16	62	85				
PTGS2	5743	broad.mit.edu	37	1	186643728	186643728	+	Silent	SNP	A	A	G			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr1:186643728A>G	ENST00000367468.5	-	10	1708	c.1572T>C	c.(1570-1572)gtT>gtC	p.V524V	PTGS2_ENST00000490885.2_5'UTR	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	524					anagen (GO:0042640)|angiogenesis (GO:0001525)|arachidonic acid metabolic process (GO:0019369)|bone mineralization (GO:0030282)|brown fat cell differentiation (GO:0050873)|cellular component movement (GO:0006928)|cellular response to ATP (GO:0071318)|cellular response to hypoxia (GO:0071456)|cellular response to mechanical stimulus (GO:0071260)|cellular response to UV (GO:0034644)|cyclooxygenase pathway (GO:0019371)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|inflammatory response (GO:0006954)|learning (GO:0007612)|lipoxygenase pathway (GO:0019372)|maintenance of blood-brain barrier (GO:0035633)|memory (GO:0007613)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of smooth muscle contraction (GO:0045986)|negative regulation of synaptic transmission, dopaminergic (GO:0032227)|ovulation (GO:0030728)|positive regulation of apoptotic process (GO:0043065)|positive regulation of brown fat cell differentiation (GO:0090336)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of fever generation (GO:0031622)|positive regulation of fibroblast growth factor production (GO:0090271)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of platelet-derived growth factor production (GO:0090362)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transforming growth factor beta production (GO:0071636)|positive regulation of vasoconstriction (GO:0045907)|positive regulation vascular endothelial growth factor production (GO:0010575)|prostaglandin biosynthetic process (GO:0001516)|prostaglandin metabolic process (GO:0006693)|regulation of blood pressure (GO:0008217)|regulation of inflammatory response (GO:0050727)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to fatty acid (GO:0070542)|response to fructose (GO:0009750)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to lithium ion (GO:0010226)|response to manganese ion (GO:0010042)|response to oxidative stress (GO:0006979)|response to tumor necrosis factor (GO:0034612)|response to vitamin D (GO:0033280)|sensory perception of pain (GO:0019233)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|neuron projection (GO:0043005)|nucleus (GO:0005634)|protein complex (GO:0043234)	arachidonate 15-lipoxygenase activity (GO:0050473)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Aldesleukin(DB00041)|Aminosalicylic Acid(DB00233)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bromfenac(DB00963)|Bumetanide(DB00887)|Carprofen(DB00821)|Celecoxib(DB00482)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Clodronate(DB00720)|Dapsone(DB00250)|Desmopressin(DB00035)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Drospirenone(DB01395)|Etanercept(DB00005)|Etodolac(DB00749)|Etoposide(DB00773)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nonoxynol-9(DB06804)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pomalidomide(DB08910)|Risedronate(DB00884)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tafluprost(DB08819)|Tenoxicam(DB00469)|Tetrahydrobiopterin(DB00360)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Triamcinolone(DB00620)|Trisalicylate-choline(DB01401)	GAGAACATATAACATTACCCA	0.458																																						ENST00000367468.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						c.(1570-1572)gtT>gtC		prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)						151.0	140.0	143.0					1																	186643728		2203	4300	6503	SO:0001819	synonymous_variant	5743				cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity	g.chr1:186643728A>G	D28235	CCDS1371.1	1q25.2-q25.3	2008-02-05			ENSG00000073756	ENSG00000073756	1.14.99.1		9605	protein-coding gene	gene with protein product		600262				1380156	Standard	NM_000963		Approved	COX2	uc001gsb.3	P35354	OTTHUMG00000035473	ENST00000367468.5:c.1572T>C	1.37:g.186643728A>G						PTGS2_ENST00000490885.2_5'UTR	p.V524V	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN			10	1708	-			524					A8K802|Q16876	Silent	SNP	ENST00000367468.5	37	c.1572T>C	CCDS1371.1																																																																																				0.458	PTGS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086157.2	NM_000963		21	105	0	0	0	1	0	21	105				
CELP	1057	broad.mit.edu	37	9	135961796	135961796	+	RNA	SNP	C	C	T	rs10901233	byFrequency	TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr9:135961796C>T	ENST00000411440.2	+	0	631					NR_001275.2				carboxyl ester lipase pseudogene																		CAAGACAGGACAGTCTCTAAG	0.597													C|||	1137	0.227037	0.0953	0.4078	5008	,	,		14710	0.2113		0.4105	False		,,,				2504	0.1043					ENST00000411440.2																			0																																																			0							g.chr9:135961796C>T	L14813		9q34.2	2014-03-18	2003-02-28	2003-03-07	ENSG00000170827	ENSG00000170827			1849	pseudogene	pseudogene			"""carboxyl ester lipase-like (bile salt-stimulated lipase-like)"""	CELL		1639390	Standard	NR_001275		Approved		uc011mcu.1		OTTHUMG00000020857		9.37:g.135961796C>T								NR_001275.2						0	631	+									RNA	SNP	ENST00000411440.2	37																																																																																						0.597	CELP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000339837.1	NM_001808		11	20	0	0	0	1	0	11	20				
DLGAP5	9787	broad.mit.edu	37	14	55643912	55643912	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr14:55643912G>A	ENST00000247191.2	-	8	1133	c.917C>T	c.(916-918)tCc>tTc	p.S306F	DLGAP5_ENST00000395425.2_Missense_Mutation_p.S306F	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN	discs, large (Drosophila) homolog-associated protein 5	306					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|dephosphorylation (GO:0016311)|mitotic chromosome movement towards spindle pole (GO:0007079)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|spindle pole centrosome (GO:0031616)	phosphoprotein phosphatase activity (GO:0004721)			biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						AGGTGCAAAGGAATTCTTCCC	0.383																																						ENST00000247191.2																			0				biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						c.(916-918)tCc>tTc		discs, large (Drosophila) homolog-associated protein 5							137.0	141.0	140.0					14																	55643912		2203	4300	6503	SO:0001583	missense	9787				cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition	nucleus|spindle pole centrosome	phosphoprotein phosphatase activity|protein binding	g.chr14:55643912G>A	D13633	CCDS9723.1, CCDS53897.1	14q22.3	2008-05-30	2008-05-30	2008-05-30	ENSG00000126787	ENSG00000126787			16864	protein-coding gene	gene with protein product			"""discs, large homolog 7 (Drosophila)"""	DLG7		7584026, 7584028	Standard	NM_014750		Approved	KIAA0008, DLG1, HURP	uc001xbs.3	Q15398	OTTHUMG00000140310	ENST00000247191.2:c.917C>T	14.37:g.55643912G>A	ENSP00000247191:p.Ser306Phe					DLGAP5_ENST00000395425.2_Missense_Mutation_p.S306F	p.S306F	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN			8	1133	-			306					A8MTM6|B4DRM8|Q86T11|Q8NG58	Missense_Mutation	SNP	ENST00000247191.2	37	c.917C>T	CCDS9723.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.358534	0.82243	.	.	ENSG00000126787	ENST00000395425;ENST00000247191	T;T	0.38722	1.17;1.12	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.68742	0.3034	M	0.78801	2.425	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.69691	-0.5077	10	0.87932	D	0	.	20.5471	0.99284	0.0:0.0:1.0:0.0	.	306;306	A8MTM6;Q15398	.;DLGP5_HUMAN	F	306	ENSP00000378815:S306F;ENSP00000247191:S306F	ENSP00000247191:S306F	S	-	2	0	DLGAP5	54713665	1.000000	0.71417	0.999000	0.59377	0.601000	0.36947	8.260000	0.89857	2.941000	0.99782	0.655000	0.94253	TCC		0.383	DLGAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276908.2	NM_014750		19	12	0	0	0	1	0	19	12				
TRIML2	205860	broad.mit.edu	37	4	189018488	189018488	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr4:189018488A>G	ENST00000512729.1	-	5	858	c.484T>C	c.(484-486)Tct>Cct	p.S162P	TRIML2_ENST00000326754.3_Missense_Mutation_p.S187P	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	162					protein ubiquitination (GO:0016567)|response to retinoic acid (GO:0032526)		ligase activity (GO:0016874)			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		CTTTCTAAAGAGTATTTTGCA	0.383																																						ENST00000512729.1																			0				central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39						c.(484-486)Tct>Cct		tripartite motif family-like 2							156.0	167.0	163.0					4																	189018488		2203	4300	6503	SO:0001583	missense	205860						ligase activity	g.chr4:189018488A>G	AK098667	CCDS3850.1	4q35.2	2014-02-12	2007-12-14		ENSG00000179046	ENSG00000179046			26378	protein-coding gene	gene with protein product	"""SPRY domain containing 6"""						Standard	NM_173553		Approved	FLJ25801, SPRYD6	uc003izl.2	Q8N7C3	OTTHUMG00000160225	ENST00000512729.1:c.484T>C	4.37:g.189018488A>G	ENSP00000422581:p.Ser162Pro					TRIML2_ENST00000326754.3_Missense_Mutation_p.S187P	p.S162P	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)	5	858	-		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)	162					B7Z6J6	Missense_Mutation	SNP	ENST00000512729.1	37	c.484T>C	CCDS3850.1	.	.	.	.	.	.	.	.	.	.	A	9.338	1.062195	0.19987	.	.	ENSG00000179046	ENST00000512729;ENST00000326754	T;T	0.58652	3.52;0.32	4.33	-3.51	0.04696	.	2.430960	0.01641	N	0.024043	T	0.36908	0.0984	N	0.22421	0.69	0.09310	N	1	P;B	0.38335	0.627;0.165	B;B	0.31614	0.133;0.094	T	0.26573	-1.0099	10	0.37606	T	0.19	.	5.0694	0.14598	0.3147:0.2664:0.0:0.4189	.	187;162	B7ZLC3;Q8N7C3	.;TRIMM_HUMAN	P	162;187	ENSP00000422581:S162P;ENSP00000317498:S187P	ENSP00000317498:S187P	S	-	1	0	TRIML2	189255482	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	0.242000	0.18087	-0.538000	0.06281	0.519000	0.50382	TCT		0.383	TRIML2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359733.1	NM_173553		41	57	0	0	0	1	0	41	57				
LRRC4	64101	broad.mit.edu	37	7	127668930	127668930	+	Silent	SNP	G	G	C	rs139849197	byFrequency	TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr7:127668930G>C	ENST00000249363.3	-	2	2021	c.1764C>G	c.(1762-1764)tcC>tcG	p.S588S	SND1_ENST00000354725.3_Intron	NM_022143.4	NP_071426.1	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4	588					postsynaptic density protein 95 clustering (GO:0097119)|regulation of synapse organization (GO:0050807)|synapse organization (GO:0050808)	cell junction (GO:0030054)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26				Lung(243;0.124)		CTGATACACCGGACGGAgctg	0.547																																						ENST00000249363.3																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26						c.(1762-1764)tcC>tcG		leucine rich repeat containing 4							108.0	94.0	99.0					7																	127668930		2203	4300	6503	SO:0001819	synonymous_variant	64101					cell junction|integral to membrane|postsynaptic membrane		g.chr7:127668930G>C	AF196976	CCDS5799.1	7q31	2013-01-14	2003-11-19		ENSG00000128594	ENSG00000128594		"""Immunoglobulin superfamily / I-set domain containing"""	15586	protein-coding gene	gene with protein product		610486	"""leucine-rich repeat-containing 4"""			12969517	Standard	NM_022143		Approved	NAG14	uc003vmk.3	Q9HBW1	OTTHUMG00000157563	ENST00000249363.3:c.1764C>G	7.37:g.127668930G>C						SND1_ENST00000354725.3_Intron	p.S588S	NM_022143.4	NP_071426.1	Q9HBW1	LRRC4_HUMAN		Lung(243;0.124)	2	2021	-			588					A4D0Y9|Q14DU9|Q6ZMI8|Q96A85	Silent	SNP	ENST00000249363.3	37	c.1764C>G	CCDS5799.1																																																																																				0.547	LRRC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349170.1	NM_022143		20	21	0	0	0	1	0	20	21				
ZER1	10444	broad.mit.edu	37	9	131503855	131503855	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr9:131503855G>A	ENST00000291900.2	-	11	2102	c.1696C>T	c.(1696-1698)Ctc>Ttc	p.L566F		NM_006336.2	NP_006327.2	Q7Z7L7	ZER1_HUMAN	zyg-11 related, cell cycle regulator	566					protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein transferase activity (GO:0051438)	Cul2-RING ubiquitin ligase complex (GO:0031462)	ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	15						TTGAAATTGAGGAACATCTCG	0.567																																						ENST00000291900.2																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	15						c.(1696-1698)Ctc>Ttc		zyg-11 related, cell cycle regulator							118.0	100.0	106.0					9																	131503855		2203	4300	6503	SO:0001583	missense	10444				ATP hydrolysis coupled proton transport|regulation of ubiquitin-protein ligase activity	Cul2-RING ubiquitin ligase complex|vacuolar proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism|ubiquitin-protein ligase activity	g.chr9:131503855G>A	X99802	CCDS6910.1	9q33.3	2013-01-17	2012-12-10	2007-01-04	ENSG00000160445	ENSG00000160445		"""ZYG11 cell cycle regulator family"""	30960	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 60"", ""zyg-11 homolog B (C. elegans)-like"", ""zer-1 homolog (C. elegans)"""	C9orf60, ZYG11BL		11719588	Standard	NM_006336		Approved	ZYG, Hzyg	uc004bwa.2	Q7Z7L7	OTTHUMG00000020759	ENST00000291900.2:c.1696C>T	9.37:g.131503855G>A	ENSP00000291900:p.Leu566Phe						p.L566F	NM_006336.2	NP_006327.2	Q7Z7L7	ZER1_HUMAN			11	2102	-			566					O00156|Q5T272|Q5T273	Missense_Mutation	SNP	ENST00000291900.2	37	c.1696C>T	CCDS6910.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.013701	0.93404	.	.	ENSG00000160445	ENST00000291900	T	0.48836	0.8	5.12	5.12	0.69794	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69468	0.3114	M	0.75615	2.305	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.71159	-0.4674	10	0.54805	T	0.06	-30.3618	17.7317	0.88379	0.0:0.0:1.0:0.0	.	566	Q7Z7L7	ZER1_HUMAN	F	566	ENSP00000291900:L566F	ENSP00000291900:L566F	L	-	1	0	ZER1	130543676	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.025000	0.93694	2.661000	0.90470	0.561000	0.74099	CTC		0.567	ZER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054491.1	NM_006336		39	175	0	0	0	1	0	39	175				
TTN	7273	broad.mit.edu	37	2	179588855	179588855	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr2:179588855G>A	ENST00000591111.1	-	71	20404	c.20180C>T	c.(20179-20181)cCc>cTc	p.P6727L	TTN_ENST00000342992.6_Missense_Mutation_p.P5800L|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.P7044L|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.1_ENST00000590024.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12354	Ig-like 49.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGTGAAAGAGGGAGGAACTGC	0.423																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(21130-21132)cCc>cTc		titin							56.0	52.0	53.0					2																	179588855		1882	4112	5994	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179588855G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.20180C>T	2.37:g.179588855G>A	ENSP00000465570:p.Pro6727Leu					TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.P5800L|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.P6727L|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.1_ENST00000590024.1_RNA	p.P7044L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		73	21355	-			6727			Ig-like 52.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.21131C>T		.	.	.	.	.	.	.	.	.	.	G	15.00	2.703678	0.48412	.	.	ENSG00000155657	ENST00000342992	T	0.80994	-1.44	6.02	6.02	0.97574	Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.90546	0.7037	H	0.98048	4.135	0.80722	D	1	P	0.46859	0.885	P	0.44696	0.458	D	0.93248	0.6632	9	0.87932	D	0	.	20.5407	0.99260	0.0:0.0:1.0:0.0	.	6727	Q8WZ42	TITIN_HUMAN	L	5800	ENSP00000343764:P5800L	ENSP00000343764:P5800L	P	-	2	0	TTN	179297100	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	9.229000	0.95273	2.865000	0.98341	0.655000	0.94253	CCC		0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		12	8	0	0	0	1	0	12	8				
NR3C2	4306	broad.mit.edu	37	4	149075976	149075976	+	Silent	SNP	T	T	G	rs544520355	byFrequency	TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr4:149075976T>G	ENST00000358102.3	-	5	2453	c.2091A>C	c.(2089-2091)ccA>ccC	p.P697P	RP11-76G10.1_ENST00000514843.1_RNA|NR3C2_ENST00000503313.1_5'UTR|NR3C2_ENST00000355292.3_Silent_p.P701P|NR3C2_ENST00000512865.1_Intron|NR3C2_ENST00000344721.4_Silent_p.P697P|NR3C2_ENST00000511528.1_Silent_p.P701P	NM_000901.4|NM_001166104.1	NP_000892.2|NP_001159576.1	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	697	Hinge.				gene expression (GO:0010467)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|receptor complex (GO:0043235)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Drospirenone(DB01395)|Eplerenone(DB00700)|Felodipine(DB01023)|Fludrocortisone(DB00687)|Fluticasone Propionate(DB00588)|Nimodipine(DB00393)|Progesterone(DB00396)|Spironolactone(DB00421)	ggggtgggggtgggggtgggg	0.527																																					Melanoma(27;428 957 40335 51025 51111)	ENST00000355292.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						c.(2101-2103)ccA>ccC		nuclear receptor subfamily 3, group C, member 2	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)						14.0	17.0	16.0					4																	149075976		2200	4293	6493	SO:0001819	synonymous_variant	0				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr4:149075976T>G	M16801	CCDS3772.1, CCDS54811.1	4q31	2013-01-16			ENSG00000151623	ENSG00000151623		"""Nuclear hormone receptors"""	7979	protein-coding gene	gene with protein product		600983		MLR		2558856	Standard	NM_000901		Approved	MR	uc003ilj.4	P08235	OTTHUMG00000161455	ENST00000358102.3:c.2091A>C	4.37:g.149075976T>G						NR3C2_ENST00000342437.4_Intron|NR3C2_ENST00000511528.1_Silent_p.P701P|NR3C2_ENST00000512865.1_Intron|NR3C2_ENST00000344721.4_Silent_p.P697P|NR3C2_ENST00000503313.1_5'UTR|NR3C2_ENST00000358102.3_Silent_p.P697P|RP11-76G10.1_ENST00000514843.1_RNA	p.P701P			P08235	MCR_HUMAN		GBM - Glioblastoma multiforme(119;0.0614)	5	2465	-	all_hematologic(180;0.151)		697			Hinge.		B0ZBF5|B0ZBF7|Q2NKL1|Q96KQ8|Q96KQ9	Silent	SNP	ENST00000358102.3	37	c.2103A>C	CCDS3772.1																																																																																				0.527	NR3C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364986.1			8	14	0	0	0	1	0	8	14				
GPAT2	150763	broad.mit.edu	37	2	96687233	96687234	+	IGR	DEL	AG	AG	-	rs374935813	byFrequency	TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr2:96687233_96687234delAG	ENST00000434632.1	-	0	3061				FAHD2CP_ENST00000607780.1_RNA			Q6NUI2	GPAT2_HUMAN	glycerol-3-phosphate acyltransferase 2, mitochondrial						CDP-diacylglycerol biosynthetic process (GO:0016024)|glycerol-3-phosphate metabolic process (GO:0006072)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						TGAAAAGCAAAGAGAGCAAGGG	0.559														57	0.0113818	0.0008	0.0072	5008	,	,		21119	0.0		0.0119	False		,,,				2504	0.0399					ENST00000607780.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr2:96687233_96687234delAG	BC042847	CCDS42714.1	2q11.2	2010-05-04			ENSG00000186281	ENSG00000186281			27168	protein-coding gene	gene with protein product	"""cancer/testis antigen 123"""					12477932	Standard	NM_207328		Approved	CT123	uc010yuf.1	Q6NUI2	OTTHUMG00000155208		2.37:g.96687237_96687238delAG														0	1061	+								Q6P2E4|Q6ZNI3|Q6ZNI5|Q6ZWJ4	RNA	DEL	ENST00000434632.1	37		CCDS42714.1																																																																																				0.559	GPAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338786.1	NM_207328		3	6						3	6	---	---	---	---
ANKMY1	51281	broad.mit.edu	37	2	241468460	241468460	+	Missense_Mutation	SNP	T	T	G			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr2:241468460T>G	ENST00000272972.3	-	4	894	c.680A>C	c.(679-681)aAg>aCg	p.K227T	ANKMY1_ENST00000462004.1_Intron|ANKMY1_ENST00000405002.1_Intron|ANKMY1_ENST00000536462.1_Intron|ANKMY1_ENST00000391987.1_Missense_Mutation_p.K227T|ANKMY1_ENST00000405523.3_Intron|ANKMY1_ENST00000403283.1_Intron|ANKMY1_ENST00000406958.1_Intron|ANKMY1_ENST00000401804.1_Missense_Mutation_p.K316T|ANKMY1_ENST00000373320.4_Intron|ANKMY1_ENST00000361678.4_Intron|ANKMY1_ENST00000373318.2_Intron	NM_016552.2	NP_057636.2	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	227							metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		TCACCTGAACTTGTAAGTTTG	0.522																																						ENST00000391987.1																			0				central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30						c.(679-681)aAg>aCg		ankyrin repeat and MYND domain containing 1							126.0	126.0	126.0					2																	241468460		2203	4300	6503	SO:0001583	missense	51281						zinc ion binding	g.chr2:241468460T>G	AB034636	CCDS2535.1, CCDS2536.1, CCDS63184.1, CCDS63185.1, CCDS74681.1	2q37.3	2013-01-10			ENSG00000144504	ENSG00000144504		"""Zinc fingers, MYND-type"", ""Ankyrin repeat domain containing"""	20987	protein-coding gene	gene with protein product							Standard	XM_005247020		Approved	FLJ20499, ZMYND13	uc002vyz.1	Q9P2S6	OTTHUMG00000133355	ENST00000272972.3:c.680A>C	2.37:g.241468460T>G	ENSP00000272972:p.Lys227Thr					ANKMY1_ENST00000403283.1_Intron|ANKMY1_ENST00000401804.1_Missense_Mutation_p.K316T|ANKMY1_ENST00000405523.3_Intron|ANKMY1_ENST00000373318.2_Intron|ANKMY1_ENST00000361678.4_Intron|ANKMY1_ENST00000272972.3_Missense_Mutation_p.K227T|ANKMY1_ENST00000373320.4_Intron|ANKMY1_ENST00000405002.1_Intron|ANKMY1_ENST00000462004.1_Intron|ANKMY1_ENST00000536462.1_Intron|ANKMY1_ENST00000406958.1_Intron	p.K227T			Q9P2S6	ANKY1_HUMAN		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)	5	1046	-		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	227					B2RB78|Q4ZFV3|Q8IYX5|Q8NDK5|Q9H0V8|Q9NX10	Missense_Mutation	SNP	ENST00000272972.3	37	c.680A>C	CCDS2536.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.69|17.69	3.452846|3.452846	0.63290|0.63290	.|.	.|.	ENSG00000144504|ENSG00000144504	ENST00000272972;ENST00000391987;ENST00000401804;ENST00000539830;ENST00000418708|ENST00000443318	T;T;T;T|.	0.61859|.	0.13;0.13;0.07;1.64|.	4.79|4.79	2.37|2.37	0.29283|0.29283	.|.	0.067046|.	0.56097|.	D|.	0.000031|.	T|T	0.64461|0.64461	0.2600|0.2600	M|M	0.75447|0.75447	2.3|2.3	0.80722|0.80722	D|D	1|1	D;D|.	0.76494|.	0.999;0.999|.	D;D|.	0.66196|.	0.942;0.942|.	T|T	0.62153|0.62153	-0.6914|-0.6914	10|5	0.39692|.	T|.	0.17|.	-16.6779|-16.6779	7.9154|7.9154	0.29814|0.29814	0.0:0.1884:0.0:0.8116|0.0:0.1884:0.0:0.8116	.|.	227;227|.	Q4ZFV3;Q9P2S6|.	.;ANKY1_HUMAN|.	T|H	227;227;316;227;227|171	ENSP00000272972:K227T;ENSP00000375847:K227T;ENSP00000385887:K316T;ENSP00000407015:K227T|.	ENSP00000272972:K227T|.	K|Q	-|-	2|3	0|2	ANKMY1|ANKMY1	241117133|241117133	0.996000|0.996000	0.38824|0.38824	1.000000|1.000000	0.80357|0.80357	0.839000|0.839000	0.47603|0.47603	0.431000|0.431000	0.21444|0.21444	0.804000|0.804000	0.34136|0.34136	0.533000|0.533000	0.62120|0.62120	AAG|CAA		0.522	ANKMY1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257187.2	NM_017844		26	117	0	0	0	1	0	26	117				
CDKL3	51265	broad.mit.edu	37	5	133695594	133695594	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr5:133695594delA	ENST00000265334.4	-	3	472	c.354delT	c.(352-354)agtfs	p.S118fs	CTD-2410N18.4_ENST00000518409.1_RNA|CDKL3_ENST00000536186.1_Intron|CDKL3_ENST00000609383.1_Intron|CDKL3_ENST00000523832.1_Frame_Shift_Del_p.S118fs|CDKL3_ENST00000522501.1_Intron|CDKL3_ENST00000523054.1_5'UTR|CDKL3_ENST00000521118.1_Frame_Shift_Del_p.S118fs|CDKL3_ENST00000435240.2_Intron|CDKL3_ENST00000609654.1_Intron|CDKL3_ENST00000521755.1_Intron|CDKL3_ENST00000435211.1_Frame_Shift_Del_p.S118fs	NM_001113575.1	NP_001107047.1	Q8IVW4	CDKL3_HUMAN	cyclin-dependent kinase-like 3	118	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular protein modification process (GO:0006464)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(3)	11			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTACATTATTACTGTGAAGAT	0.338																																						ENST00000521118.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(3)	11						c.(352-354)agfs		cyclin-dependent kinase-like 3							71.0	65.0	67.0					5																	133695594		1829	4080	5909	SO:0001589	frameshift_variant	51265					cytoplasm	ATP binding|cyclin-dependent protein kinase activity	g.chr5:133695594delA	AF130372	CCDS47264.1, CCDS47265.1, CCDS75303.1	5q31.1	2014-09-09			ENSG00000006837	ENSG00000006837	2.7.11.22	"""Cyclin-dependent kinases"""	15483	protein-coding gene	gene with protein product	"""serine-threonine protein kinase NKIAMRE"""	608459				10463609	Standard	NM_016508		Approved	NKIAMRE	uc003kzf.4	Q8IVW4	OTTHUMG00000186341	ENST00000265334.4:c.354delT	5.37:g.133695594delA	ENSP00000265334:p.Ser118fs					CDKL3_ENST00000518409.1_Intron|CDKL3_ENST00000523832.1_Frame_Shift_Del_p.S118fs|CDKL3_ENST00000536186.1_Intron|CDKL3_ENST00000265334.4_Frame_Shift_Del_p.S118fs|CDKL3_ENST00000521755.1_Intron|CDKL3_ENST00000523054.1_5'UTR|CDKL3_ENST00000435240.2_Intron|CDKL3_ENST00000435211.1_Frame_Shift_Del_p.S118fs	p.S118fs			Q8IVW4	CDKL3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		3	468	-			118			Protein kinase.		D3DQA0|D3DQA1|Q9P114	Frame_Shift_Del	DEL	ENST00000265334.4	37	c.354delT	CCDS47264.1																																																																																				0.338	CDKL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377697.1	NM_001113575		2	4						2	4	---	---	---	---
STK19	8859	broad.mit.edu	37	6	31939825	31939826	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr6:31939825_31939826insG	ENST00000375333.2	+	1	105_106	c.52_53insG	c.(52-54)cggfs	p.R18fs	DXO_ENST00000337523.5_5'UTR|STK19_ENST00000375331.2_Frame_Shift_Ins_p.R18fs|DXO_ENST00000375356.3_5'Flank|DXO_ENST00000478221.1_5'UTR|DXO_ENST00000375349.3_5'UTR	NM_032454.1	NP_115830.1	P49842	STK19_HUMAN	serine/threonine kinase 19	18					protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			skin(5)|upper_aerodigestive_tract(2)	7						GCGACAGTGGCGGGCAAACCCC	0.634																																						ENST00000375331.2																			0				skin(5)|upper_aerodigestive_tract(2)	7						c.(52-54)ggcfs		serine/threonine kinase 19																																				SO:0001589	frameshift_variant	8859					nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:31939825_31939826insG	X77474	CCDS4733.1, CCDS34417.1	6p21.33	2011-09-15			ENSG00000204344	ENSG00000204344			11398	protein-coding gene	gene with protein product		604977				8012361, 9812991	Standard	NM_032454		Approved	D6S60, G11, RP1	uc003nyv.3	P49842	OTTHUMG00000166424	ENST00000375333.2:c.55dupG	6.37:g.31939828_31939828dupG	ENSP00000364482:p.Arg18fs					DOM3Z_ENST00000478221.1_5'UTR|DOM3Z_ENST00000337523.5_5'UTR|STK19_ENST00000375333.2_Frame_Shift_Ins_p.G18fs|DOM3Z_ENST00000375349.3_5'UTR	p.G18fs	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN			1	218_219	+			18					A6NF95|A6NFW8|B0QZR5|Q13159|Q31617|Q5JP77|Q5ST72|Q5ST75	Frame_Shift_Ins	INS	ENST00000375333.2	37	c.52_53insG	CCDS4733.1																																																																																				0.634	STK19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076484.3			10	246						10	246	---	---	---	---
LILRB1	10859	broad.mit.edu	37	19	55143156	55143157	+	Frame_Shift_Del	DEL	TG	TG	-	rs12462774|rs34880987|rs12460501|rs200526666	byFrequency	TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr19:55143156_55143157delTG	ENST00000396331.1	+	5	633_634	c.276_277delTG	c.(274-279)catgcafs	p.A93fs	LILRB1_ENST00000448689.1_Frame_Shift_Del_p.A93fs|LILRB1_ENST00000396332.4_Frame_Shift_Del_p.A93fs|LILRB1_ENST00000396327.3_Frame_Shift_Del_p.A93fs|LILRB1_ENST00000427581.2_Frame_Shift_Del_p.A129fs|AC009892.1_ENST00000578908.1_RNA|LILRB1_ENST00000396317.1_Frame_Shift_Del_p.A93fs|LILRB1_ENST00000418536.2_Frame_Shift_Del_p.A93fs|LILRB1_ENST00000324602.7_Frame_Shift_Del_p.A93fs|LILRB1_ENST00000396315.1_Frame_Shift_Del_p.A93fs|LILRB1_ENST00000396321.2_Frame_Shift_Del_p.A93fs|LILRB1_ENST00000434867.2_Frame_Shift_Del_p.A93fs	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	93	Ig-like C2-type 1.		A -> T (in dbSNP:rs12460501). {ECO:0000269|PubMed:20600445}.		cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CCTGGGAACATGCAGGGCGGTA	0.554										HNSCC(37;0.09)																												ENST00000396331.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74						c.(274-279)cacafs		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1																																				SO:0001589	frameshift_variant	0				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	g.chr19:55143156_55143157delTG	AF009220	CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1	19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6605	protein-coding gene	gene with protein product		604811				9285411, 9382880	Standard	XM_006726246		Approved	LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j	uc002qgm.3	Q8NHL6		ENST00000396331.1:c.276_277delTG	19.37:g.55143156_55143157delTG	ENSP00000379622:p.Ala93fs	HNSCC(37;0.09)				LILRB1_ENST00000396332.4_Frame_Shift_Del_p.HA92fs|LILRB1_ENST00000324602.7_Frame_Shift_Del_p.HA92fs|LILRB1_ENST00000418536.2_Frame_Shift_Del_p.HA92fs|LILRB1_ENST00000434867.2_Frame_Shift_Del_p.HA92fs|LILRB1_ENST00000396327.3_Frame_Shift_Del_p.HA92fs|LILRB1_ENST00000448689.1_Frame_Shift_Del_p.HA92fs|LILRB1_ENST00000396317.1_Frame_Shift_Del_p.HA92fs|LILRB1_ENST00000427581.2_Frame_Shift_Del_p.HA128fs|LILRB1_ENST00000396315.1_Frame_Shift_Del_p.HA92fs|LILRB1_ENST00000396321.2_Frame_Shift_Del_p.HA92fs	p.HA92fs	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN		GBM - Glioblastoma multiforme(193;0.0188)	5	633_634	+			92			Ig-like C2-type 1.		A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Frame_Shift_Del	DEL	ENST00000396331.1	37	c.276_277delTG	CCDS42617.1																																																																																				0.554	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4			12	193						12	193	---	---	---	---
NUDT11	55190	broad.mit.edu	37	X	51239296	51239309	+	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCCTCGAGGCAGCC	-	rs78182391		TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	ENST00000375992.3	-	0	139_152					NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11						inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)	diphosphoinositol-polyphosphate diphosphatase activity (GO:0008486)|inositol diphosphate tetrakisphosphate diphosphatase activity (GO:0052840)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 1-diphosphatase activity (GO:0052846)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052847)|inositol-1-diphosphate-2,3,4,5,6-pentakisphosphate diphosphatase activity (GO:0052843)|inositol-3,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052848)|inositol-3-diphosphate-1,2,4,5,6-pentakisphosphate diphosphatase activity (GO:0052844)|inositol-5-diphosphate-1,2,3,4,6-pentakisphosphate diphosphatase activity (GO:0052845)|metal ion binding (GO:0046872)	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)				2406	0.637351	0.497	0.4928	3775	,	,		5662	0.4464		0.4553	False		,,,				2504	0.5102				GBM(38;198 791 1498 11752 13599)	ENST00000375992.3																			5	Unknown(5)	p.?(5)	upper_aerodigestive_tract(2)|prostate(1)|breast(1)|central_nervous_system(1)	breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9								nudix (nucleoside diphosphate linked moiety X)-type motif 11				1710,202		758,11,183,87,17						3.0	1.0		dbSNP_131	12	3133,173		1220,1,692,66,40	no	frameshift	NUDT11	NM_018159.3		1978,12,875,153,57	A1A1,A1R,A1,RR,R		5.2329,10.5649,7.1867				4843,375				SO:0001582	initiator_codon_variant	0					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	AK001490	CCDS43952.1	Xp11.22-p11.1	2014-05-20			ENSG00000196368	ENSG00000196368		"""Nudix motif containing"""	18011	protein-coding gene	gene with protein product						12105228	Standard	NM_018159		Approved	DIPP3b, FLJ10628, hDIPP3beta	uc010njt.3	Q96G61	OTTHUMG00000021531		X.37:g.51239296_51239309delTCCTCGAGGCAGCC		HNSCC(48;0.14)						NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN			0	139_152	-	Ovarian(276;0.236)							Q9NVN0	Translation_Start_Site	DEL	ENST00000375992.3	37		CCDS43952.1																																																																																				0.692	NUDT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056579.1			3	5						3	5	---	---	---	---
