#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
DNM1P47	100216544	broad.mit.edu	37	15	102296140	102296140	+	RNA	SNP	C	C	T	rs191279075	byFrequency	TCGA-M7-A71Z-01A-12D-A32B-08	TCGA-M7-A71Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4906782-9697-4813-942b-94c2b8463d5c	fa6e02fd-442a-4a16-8d8d-d85944432531	g.chr15:102296140C>T	ENST00000561463.1	+	0	4186									DNM1 pseudogene 47																		GTCCAACCTGCACTCGCGTGG	0.602																																						ENST00000561463.1																			0																																																			0							g.chr15:102296140C>T	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102296140C>T														0	4186	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.602	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		6	4	0	0	0	1	0	6	4				
KCNA5	3741	broad.mit.edu	37	12	5154617	5154617	+	Missense_Mutation	SNP	G	G	A			TCGA-M7-A71Z-01A-12D-A32B-08	TCGA-M7-A71Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4906782-9697-4813-942b-94c2b8463d5c	fa6e02fd-442a-4a16-8d8d-d85944432531	g.chr12:5154617G>A	ENST00000252321.3	+	1	1533	c.1304G>A	c.(1303-1305)gGg>gAg	p.G435E		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	435					atrial cardiac muscle cell action potential (GO:0086014)|membrane hyperpolarization (GO:0060081)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of myoblast proliferation (GO:2000288)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transport (GO:0043266)|regulation of vasoconstriction (GO:0019229)|response to hypoxia (GO:0001666)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|intracellular canaliculus (GO:0046691)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52					Dalfampridine(DB06637)	AGGGAGCTGGGGCTGCTCATC	0.592																																						ENST00000252321.3																			0				NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						c.(1303-1305)gGg>gAg		potassium voltage-gated channel, shaker-related subfamily, member 5							51.0	48.0	49.0					12																	5154617		2203	4296	6499	SO:0001583	missense	3741					Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr12:5154617G>A	M83254	CCDS8536.1	12p13	2012-07-05				ENSG00000130037		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6224	protein-coding gene	gene with protein product		176267				16382104	Standard	NM_002234		Approved	Kv1.5, HK2, HPCN1	uc001qni.4	P22460		ENST00000252321.3:c.1304G>A	12.37:g.5154617G>A	ENSP00000252321:p.Gly435Glu						p.G435E	NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN			1	1533	+			435					Q4KKT8|Q4VAJ1|Q4VAJ2|Q9UDA4	Missense_Mutation	SNP	ENST00000252321.3	37	c.1304G>A	CCDS8536.1	.	.	.	.	.	.	.	.	.	.	G	19.88	3.908355	0.72868	.	.	ENSG00000130037	ENST00000252321	D	0.98567	-5.0	4.87	4.87	0.63330	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99272	0.9746	H	0.95114	3.625	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.98853	1.0759	10	0.87932	D	0	.	17.2051	0.86915	0.0:0.0:1.0:0.0	.	435	P22460	KCNA5_HUMAN	E	435	ENSP00000252321:G435E	ENSP00000252321:G435E	G	+	2	0	KCNA5	5024878	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	9.552000	0.98115	2.536000	0.85505	0.561000	0.74099	GGG		0.592	KCNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398925.2	NM_002234		11	23	0	0	0	1	0	11	23				
NCOA2	10499	broad.mit.edu	37	8	71126310	71126310	+	Splice_Site	SNP	G	G	A			TCGA-M7-A71Z-01A-12D-A32B-08	TCGA-M7-A71Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4906782-9697-4813-942b-94c2b8463d5c	fa6e02fd-442a-4a16-8d8d-d85944432531	g.chr8:71126310G>A	ENST00000452400.2	-	4	268	c.87C>T	c.(85-87)agC>agT	p.S29S		NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	29	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucose metabolic process (GO:0010906)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|signal transducer activity (GO:0004871)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			TCCTTTTGGGGCTTAAAAGAA	0.274			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""																																	ENST00000452400.2				Dom	yes		8	8q13.1	10499	T	nuclear receptor coactivator 2 (TIF2)			L	"""RUNXBP2, HEY1"""		"""AML, Chondrosarcoma"""	PAX3/NCOA2(4)|HEY1/NCOA2(10)	0				NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60						c.e4-1		nuclear receptor coactivator 2							105.0	96.0	99.0					8																	71126310		1791	4054	5845	SO:0001630	splice_region_variant	10499				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity	g.chr8:71126310G>A	X97674	CCDS47872.1	8q13.3	2011-07-01			ENSG00000140396	ENSG00000140396		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7669	protein-coding gene	gene with protein product		601993				9111344, 8670870	Standard	XM_005251128		Approved	TIF2, GRIP1, NCoA-2, KAT13C, bHLHe75	uc003xyn.1	Q15596	OTTHUMG00000164671	ENST00000452400.2:c.87-1C>T	8.37:g.71126310G>A							p.S29_splice	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)		4	268	-	Breast(64;0.201)		29					Q14CD2	Splice_Site	SNP	ENST00000452400.2	37	c.86_splice	CCDS47872.1																																																																																				0.274	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379696.1		Silent	7	36	0	0	0	1	0	7	36				
CLASP1	23332	broad.mit.edu	37	2	122144788	122144788	+	Missense_Mutation	SNP	G	G	A			TCGA-M7-A71Z-01A-12D-A32B-08	TCGA-M7-A71Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4906782-9697-4813-942b-94c2b8463d5c	fa6e02fd-442a-4a16-8d8d-d85944432531	g.chr2:122144788G>A	ENST00000263710.4	-	32	3673	c.3284C>T	c.(3283-3285)aCg>aTg	p.T1095M	CLASP1_ENST00000409078.3_Missense_Mutation_p.T1067M|CLASP1_ENST00000545861.1_Missense_Mutation_p.T841M|CLASP1_ENST00000455322.2_Missense_Mutation_p.T1090M|CLASP1_ENST00000541859.1_Missense_Mutation_p.T851M|CLASP1_ENST00000397587.3_Missense_Mutation_p.T1074M|CLASP1_ENST00000541377.1_Missense_Mutation_p.T1073M	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	1095					axon guidance (GO:0007411)|cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|establishment or maintenance of cell polarity (GO:0007163)|exit from mitosis (GO:0010458)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)	cell cortex (GO:0005938)|centrosomal corona (GO:0031592)|centrosome (GO:0005813)|cortical microtubule cytoskeleton (GO:0030981)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|spindle microtubule (GO:0005876)	kinetochore binding (GO:0043515)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					CCGGCCAATCGTATTGCTTGG	0.522																																						ENST00000263710.4																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47						c.(3283-3285)aCg>aTg		cytoplasmic linker associated protein 1							38.0	41.0	40.0					2																	122144788		1937	4129	6066	SO:0001583	missense	23332				axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding	g.chr2:122144788G>A	AB014522		2q14.2-q14.3	2013-01-18			ENSG00000074054	ENSG00000074054			17088	protein-coding gene	gene with protein product	"""multiple asters 1"""	605852				9734811, 10899121, 16914514	Standard	NM_015282		Approved	KIAA0622, MAST1	uc002tnc.3	Q7Z460	OTTHUMG00000153331	ENST00000263710.4:c.3284C>T	2.37:g.122144788G>A	ENSP00000263710:p.Thr1095Met					CLASP1_ENST00000541859.1_Missense_Mutation_p.T851M|CLASP1_ENST00000409078.3_Missense_Mutation_p.T1067M|CLASP1_ENST00000455322.2_Missense_Mutation_p.T1090M|CLASP1_ENST00000541377.1_Missense_Mutation_p.T1073M|CLASP1_ENST00000545861.1_Missense_Mutation_p.T841M|CLASP1_ENST00000397587.3_Missense_Mutation_p.T1074M	p.T1095M	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN			32	3673	-	Renal(3;0.0496)		1095					B7ZLX3|O75118|Q2KHQ9|Q5H9P0|Q8N5B8|Q9BQT5	Missense_Mutation	SNP	ENST00000263710.4	37	c.3284C>T		.	.	.	.	.	.	.	.	.	.	G	28.8	4.954278	0.92726	.	.	ENSG00000074054	ENST00000263710;ENST00000455322;ENST00000397587;ENST00000541377;ENST00000541859;ENST00000409078;ENST00000545861	T;T;T;T;T;T	0.47528	2.14;2.15;2.16;2.16;0.84;2.16	6.04	6.04	0.98038	Armadillo-type fold (1);	0.043116	0.85682	D	0.000000	T	0.59500	0.2198	L	0.29908	0.895	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.998;1.0	P;P;P;D	0.65874	0.877;0.897;0.791;0.939	T	0.59172	-0.7504	10	0.62326	D	0.03	-22.7208	20.5948	0.99439	0.0:0.0:1.0:0.0	.	1067;1074;1075;1095	E7EUA5;F5GWS0;A2RU21;Q7Z460	.;.;.;CLAP1_HUMAN	M	1095;1090;1074;1073;851;1067;841	ENSP00000263710:T1095M;ENSP00000389372:T1090M;ENSP00000380717:T1074M;ENSP00000441625:T1073M;ENSP00000441770:T851M;ENSP00000386442:T1067M	ENSP00000263710:T1095M	T	-	2	0	CLASP1	121861258	1.000000	0.71417	0.993000	0.49108	0.983000	0.72400	9.491000	0.97954	2.873000	0.98535	0.563000	0.77884	ACG		0.522	CLASP1-201	KNOWN	basic	protein_coding	protein_coding		NM_015282		11	5	0	0	0	1	0	11	5				
SMCHD1	23347	broad.mit.edu	37	18	2694691	2694691	+	Splice_Site	SNP	C	C	T			TCGA-M7-A71Z-01A-12D-A32B-08	TCGA-M7-A71Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4906782-9697-4813-942b-94c2b8463d5c	fa6e02fd-442a-4a16-8d8d-d85944432531	g.chr18:2694691C>T	ENST00000320876.6	+	8	1378	c.1040C>T	c.(1039-1041)gCg>gTg	p.A347V	SMCHD1_ENST00000261598.8_Splice_Site_p.A347V|RP11-703M24.5_ENST00000583546.1_RNA	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	347					chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						CGACAGTTAGCGTAAGTAATT	0.358																																						ENST00000320876.6																			0				NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						c.e8+1		structural maintenance of chromosomes flexible hinge domain containing 1							79.0	73.0	75.0					18																	2694691		1854	4089	5943	SO:0001630	splice_region_variant	23347				chromosome organization		ATP binding	g.chr18:2694691C>T	AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596			29090	protein-coding gene	gene with protein product		614982				9734811	Standard	NM_015295		Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.1040+1C>T	18.37:g.2694691C>T						SMCHD1_ENST00000261598.8_Splice_Site_p.A347_splice|RP11-703M24.5_ENST00000583546.1_RNA	p.A347_splice	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN			8	1378	+			347					O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Splice_Site	SNP	ENST00000320876.6	37	c.1040_splice	CCDS45822.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.160077	0.78226	.	.	ENSG00000101596	ENST00000320876;ENST00000261598	T;T	0.30182	1.54;1.55	5.28	5.28	0.74379	ATPase-like, ATP-binding domain (1);	.	.	.	.	T	0.32852	0.0843	L	0.49126	1.545	0.40679	D	0.982282	B	0.28208	0.203	B	0.22753	0.041	T	0.19257	-1.0311	9	0.87932	D	0	.	19.2747	0.94027	0.0:1.0:0.0:0.0	.	347	A6NHR9	SMHD1_HUMAN	V	347	ENSP00000326603:A347V;ENSP00000261598:A347V	ENSP00000261598:A347V	A	+	2	0	SMCHD1	2684691	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.004000	0.76317	2.626000	0.88956	0.655000	0.94253	GCG		0.358	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441082.2		Missense_Mutation	12	11	0	0	0	1	0	12	11				
RYR2	6262	broad.mit.edu	37	1	237957207	237957207	+	Missense_Mutation	SNP	G	G	A			TCGA-M7-A71Z-01A-12D-A32B-08	TCGA-M7-A71Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4906782-9697-4813-942b-94c2b8463d5c	fa6e02fd-442a-4a16-8d8d-d85944432531	g.chr1:237957207G>A	ENST00000366574.2	+	95	14140	c.13823G>A	c.(13822-13824)cGg>cAg	p.R4608Q	RYR2_ENST00000542537.1_Missense_Mutation_p.R4592Q|RYR2_ENST00000360064.6_Missense_Mutation_p.R4614Q	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4608					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)			GAAGTGGCACGGAAATTGGAA	0.358																																						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.(13822-13824)cGg>cAg		ryanodine receptor 2 (cardiac)							70.0	66.0	67.0					1																	237957207		1809	4078	5887	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.chr1:237957207G>A	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.13823G>A	1.37:g.237957207G>A	ENSP00000355533:p.Arg4608Gln					RYR2_ENST00000360064.6_Missense_Mutation_p.R4614Q|RYR2_ENST00000542537.1_Missense_Mutation_p.R4592Q	p.R4608Q	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		95	14140	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	4608					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.13823G>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	36	5.660759	0.96734	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000536033	D;D;D	0.98178	-4.77;-4.75;-4.77	5.69	5.69	0.88448	.	0.000000	0.56097	U	0.000029	D	0.98839	0.9608	M	0.77486	2.375	0.58432	D	0.999999	D;D	0.64830	0.994;0.99	D;P	0.64144	0.922;0.462	D	0.99737	1.1014	10	0.87932	D	0	.	20.181	0.98201	0.0:0.0:1.0:0.0	.	41;4608	F5H3C7;Q92736	.;RYR2_HUMAN	Q	4608;4614;4592;41	ENSP00000355533:R4608Q;ENSP00000353174:R4614Q;ENSP00000443798:R4592Q	ENSP00000353174:R4614Q	R	+	2	0	RYR2	236023830	1.000000	0.71417	0.993000	0.49108	0.972000	0.66771	9.813000	0.99286	2.840000	0.97914	0.655000	0.94253	CGG		0.358	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		15	17	0	0	0	1	0	15	17				
DFNA5	1687	broad.mit.edu	37	7	24742404	24742404	+	Missense_Mutation	SNP	T	T	C			TCGA-M7-A71Z-01A-12D-A32B-08	TCGA-M7-A71Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4906782-9697-4813-942b-94c2b8463d5c	fa6e02fd-442a-4a16-8d8d-d85944432531	g.chr7:24742404T>C	ENST00000342947.3	-	9	1657	c.1232A>G	c.(1231-1233)cAg>cGg	p.Q411R	DFNA5_ENST00000409970.1_Missense_Mutation_p.Q247R|DFNA5_ENST00000545231.1_Missense_Mutation_p.Q247R|DFNA5_ENST00000409775.3_Missense_Mutation_p.Q411R|DFNA5_ENST00000419307.1_Missense_Mutation_p.Q247R	NM_004403.2	NP_004394.1	O60443	DFNA5_HUMAN	deafness, autosomal dominant 5	411					apoptotic process (GO:0006915)|inner ear receptor cell differentiation (GO:0060113)|negative regulation of cell proliferation (GO:0008285)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						GGGAATGATCTGGAGTTTGCA	0.507																																					GBM(78;184 1250 20134 20900 23600)	ENST00000545231.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						c.(739-741)cAg>cGg		deafness, autosomal dominant 5							118.0	112.0	114.0					7																	24742404		2203	4300	6503	SO:0001583	missense	1687				sensory perception of sound			g.chr7:24742404T>C	AF007790	CCDS5389.1, CCDS47563.1	7p15	2011-07-01			ENSG00000105928	ENSG00000105928			2810	protein-coding gene	gene with protein product		608798				8589696, 9450185	Standard	NM_004403		Approved	ICERE-1	uc010kus.1	O60443	OTTHUMG00000023237	ENST00000342947.3:c.1232A>G	7.37:g.24742404T>C	ENSP00000339587:p.Gln411Arg					DFNA5_ENST00000409970.1_Missense_Mutation_p.Q247R|DFNA5_ENST00000409775.3_Missense_Mutation_p.Q411R|DFNA5_ENST00000342947.3_Missense_Mutation_p.Q411R|DFNA5_ENST00000419307.1_Missense_Mutation_p.Q247R	p.Q247R			O60443	DFNA5_HUMAN			11	1890	-			411					A4D156|B2RAX9|B3KT05|O14590|Q08AQ8|Q9UBV3	Missense_Mutation	SNP	ENST00000342947.3	37	c.740A>G	CCDS5389.1	.	.	.	.	.	.	.	.	.	.	T	16.74	3.207674	0.58343	.	.	ENSG00000105928	ENST00000342947;ENST00000419307;ENST00000545231;ENST00000409970;ENST00000409775;ENST00000430096	T;T;T;T;T;T	0.21031	2.03;2.03;2.03;2.03;2.03;2.03	5.86	4.71	0.59529	.	0.389053	0.28736	N	0.014304	T	0.35480	0.0933	M	0.69823	2.125	0.33598	D	0.601904	D	0.58268	0.982	P	0.57620	0.824	T	0.49399	-0.8944	10	0.22109	T	0.4	-8.3244	9.9818	0.41817	0.0:0.0777:0.0:0.9223	.	411	O60443	DFNA5_HUMAN	R	411;247;247;247;411;31	ENSP00000339587:Q411R;ENSP00000401332:Q247R;ENSP00000442661:Q247R;ENSP00000387119:Q247R;ENSP00000386670:Q411R;ENSP00000395540:Q31R	ENSP00000339587:Q411R	Q	-	2	0	DFNA5	24708929	0.776000	0.28616	0.972000	0.41901	0.553000	0.35397	1.335000	0.33839	1.156000	0.42514	0.528000	0.53228	CAG		0.507	DFNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214060.2	NM_004403		11	73	0	0	0	1	0	11	73				
PCDHAC2	56134	broad.mit.edu	37	5	140347665	140347665	+	Silent	SNP	G	G	A			TCGA-M7-A71Z-01A-12D-A32B-08	TCGA-M7-A71Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4906782-9697-4813-942b-94c2b8463d5c	fa6e02fd-442a-4a16-8d8d-d85944432531	g.chr5:140347665G>A	ENST00000289269.5	+	1	1846	c.1314G>A	c.(1312-1314)acG>acA	p.T438T	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2	438	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAACATCACGGTGACAGCCA	0.552																																					Melanoma(190;638 2083 3390 11909 52360)	ENST00000289269.5																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(1312-1314)acG>acA									91.0	96.0	94.0					5																	140347665		2203	4300	6503	SO:0001819	synonymous_variant	0				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140347665G>A	AF152474	CCDS4242.1	5q31	2010-11-26			ENSG00000243232	ENSG00000243232		"""Cadherins / Protocadherins : Clustered"""	8677	other	complex locus constituent		606321				10380929	Standard	NM_031883		Approved	PCDH-ALPHA-C2		Q9Y5I4	OTTHUMG00000129607	ENST00000289269.5:c.1314G>A	5.37:g.140347665G>A						PCDHA13_ENST00000289272.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA8_ENST00000531613.1_Intron	p.T438T	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1846	+			438			Cadherin 4.		Q2M3V1|Q9Y5F4	Silent	SNP	ENST00000289269.5	37	c.1314G>A	CCDS4242.1																																																																																				0.552	PCDHAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251802.2	NM_018899		8	96	0	0	0	1	0	8	96				
GRM1	2911	broad.mit.edu	37	6	146480607	146480607	+	Missense_Mutation	SNP	G	G	A	rs553512718		TCGA-M7-A71Z-01A-12D-A32B-08	TCGA-M7-A71Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4906782-9697-4813-942b-94c2b8463d5c	fa6e02fd-442a-4a16-8d8d-d85944432531	g.chr6:146480607G>A	ENST00000282753.1	+	2	1059	c.824G>A	c.(823-825)cGc>cAc	p.R275H	GRM1_ENST00000361719.2_Missense_Mutation_p.R275H|GRM1_ENST00000392299.2_Missense_Mutation_p.R275H|GRM1_ENST00000492807.2_Missense_Mutation_p.R275H|GRM1_ENST00000507907.1_Missense_Mutation_p.R275H|GRM1_ENST00000355289.4_Missense_Mutation_p.R275H			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	275					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)	p.R275H(1)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		CGACTCTTGCGCAAACTCCGA	0.577													G|||	1	0.000199681	0.0	0.0	5008	,	,		18937	0.001		0.0	False		,,,				2504	0.0					ENST00000392299.2																			1	Substitution - Missense(1)	p.R275H(1)	large_intestine(1)	NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126						c.(823-825)cGc>cAc		glutamate receptor, metabotropic 1	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						93.0	84.0	87.0					6																	146480607		2203	4300	6503	SO:0001583	missense	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146480607G>A	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.824G>A	6.37:g.146480607G>A	ENSP00000282753:p.Arg275His					GRM1_ENST00000355289.4_Missense_Mutation_p.R275H|GRM1_ENST00000282753.1_Missense_Mutation_p.R275H|GRM1_ENST00000361719.2_Missense_Mutation_p.R275H|GRM1_ENST00000507907.1_Missense_Mutation_p.R275H|GRM1_ENST00000492807.2_Missense_Mutation_p.R275H	p.R275H			Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	3	1294	+		Ovarian(120;0.0387)	275					B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	ENST00000282753.1	37	c.824G>A	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.838921	0.91117	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	D;D;D;D;D;D	0.83419	-1.72;-1.72;-1.72;-1.72;-1.72;-1.72	5.32	5.32	0.75619	Extracellular ligand-binding receptor (1);	0.053988	0.64402	D	0.000002	D	0.82398	0.5028	L	0.53671	1.685	0.53688	D	0.999976	P;D;P;P	0.64830	0.932;0.994;0.945;0.932	P;P;P;P	0.58780	0.537;0.845;0.667;0.537	D	0.84833	0.0803	10	0.72032	D	0.01	.	9.6698	0.40006	0.1545:0.0:0.8455:0.0	.	275;275;270;275	F8W805;Q13255;Q59HC2;Q13255-2	.;GRM1_HUMAN;.;.	H	275	ENSP00000354896:R275H;ENSP00000376119:R275H;ENSP00000424095:R275H;ENSP00000282753:R275H;ENSP00000347437:R275H;ENSP00000425599:R275H	ENSP00000282753:R275H	R	+	2	0	GRM1	146522300	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.432000	0.73400	2.495000	0.84180	0.655000	0.94253	CGC		0.577	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		22	25	0	0	0	1	0	22	25				
MRPS24	64951	broad.mit.edu	37	7	43906439	43906439	+	Silent	SNP	G	G	A	rs191738193		TCGA-M7-A71Z-01A-12D-A32B-08	TCGA-M7-A71Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4906782-9697-4813-942b-94c2b8463d5c	fa6e02fd-442a-4a16-8d8d-d85944432531	g.chr7:43906439G>A	ENST00000317534.5	-	4	424	c.363C>T	c.(361-363)gcC>gcT	p.A121A	URGCP-MRPS24_ENST00000603700.1_3'UTR|MRPS24_ENST00000467084.1_5'UTR	NM_032014.2	NP_114403.1	Q96EL2	RT24_HUMAN	mitochondrial ribosomal protein S24	121					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrial small ribosomal subunit (GO:0005763)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	5						TCAGGACCACGGCACAGATCT	0.527													G|||	1	0.000199681	0.0	0.0	5008	,	,		19118	0.0		0.001	False		,,,				2504	0.0					ENST00000317534.5																			0				large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	5						c.(361-363)gcC>gcT		mitochondrial ribosomal protein S24		G	,	1,4405	2.1+/-5.4	0,1,2202	79.0	72.0	75.0		,363	-0.5	0.9	7		75	2,8598	2.2+/-6.3	0,2,4298	no	utr-3,coding-synonymous	MRPS24,URGCP-MRPS24	NM_001204871.1,NM_032014.2	,	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	,	,121/168	43906439	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	64951				translation	mitochondrial large ribosomal subunit|mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome	g.chr7:43906439G>A	AB061207	CCDS5473.1	7p14	2012-09-13			ENSG00000062582	ENSG00000062582		"""Mitochondrial ribosomal proteins / small subunits"""	14510	protein-coding gene	gene with protein product		611986				8127713, 11279123	Standard	NM_032014		Approved	MRP-S24, HSPC335	uc003tit.1	Q96EL2	OTTHUMG00000023175	ENST00000317534.5:c.363C>T	7.37:g.43906439G>A						RP5-1165K10.1_ENST00000603700.1_3'UTR|MRPS24_ENST00000467084.1_5'UTR	p.A121A	NM_032014.2	NP_114403.1	Q96EL2	RT24_HUMAN			4	424	-			121					A4D1U9|P82668|Q96Q23|Q9P047	Silent	SNP	ENST00000317534.5	37	c.363C>T	CCDS5473.1																																																																																				0.527	MRPS24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250949.1	NM_032014		3	52	0	0	0	1	0	3	52				
SLC19A2	10560	broad.mit.edu	37	1	169439315	169439315	+	Missense_Mutation	SNP	G	G	A			TCGA-M7-A71Z-01A-12D-A32B-08	TCGA-M7-A71Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4906782-9697-4813-942b-94c2b8463d5c	fa6e02fd-442a-4a16-8d8d-d85944432531	g.chr1:169439315G>A	ENST00000236137.5	-	3	1153	c.917C>T	c.(916-918)aCc>aTc	p.T306I	SLC19A2_ENST00000367804.4_Missense_Mutation_p.T105I	NM_006996.2	NP_008927.1	O60779	S19A2_HUMAN	solute carrier family 19 (thiamine transporter), member 2	306					folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|thiamine transport (GO:0015888)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	folic acid transporter activity (GO:0008517)|thiamine transmembrane transporter activity (GO:0015234)|thiamine uptake transmembrane transporter activity (GO:0015403)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	11	all_hematologic(923;0.208)				Thiamine(DB00152)	ATAGCCACAGGTAGAGAGGGC	0.507																																						ENST00000236137.5																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	11						c.(916-918)aCc>aTc		solute carrier family 19 (thiamine transporter), member 2							104.0	103.0	104.0					1																	169439315		2203	4300	6503	SO:0001583	missense	10560				thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|folic acid transporter activity|reduced folate carrier activity|thiamine uptake transmembrane transporter activity	g.chr1:169439315G>A	AF135488	CCDS1280.1	1q23.3	2013-05-22			ENSG00000117479	ENSG00000117479		"""Solute carriers"""	10938	protein-coding gene	gene with protein product		603941		TRMA		9399900, 10391221	Standard	NM_006996		Approved	THTR1	uc001gge.4	O60779	OTTHUMG00000035452	ENST00000236137.5:c.917C>T	1.37:g.169439315G>A	ENSP00000236137:p.Thr306Ile					SLC19A2_ENST00000367804.3_Missense_Mutation_p.T105I|SLC19A2_ENST00000367802.3_Missense_Mutation_p.T268I	p.T306I	NM_006996.2	NP_008927.1	O60779	S19A2_HUMAN			3	1153	-	all_hematologic(923;0.208)		306					B2R9H0|B4E1X4|Q8WV87|Q9UBL7|Q9UKJ2|Q9UN31|Q9UN43	Missense_Mutation	SNP	ENST00000236137.5	37	c.917C>T	CCDS1280.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.812915	0.90707	.	.	ENSG00000117479	ENST00000236137;ENST00000367804;ENST00000367802	T;T;T	0.80824	-1.42;-1.4;-1.42	5.87	5.87	0.94306	Major facilitator superfamily domain, general substrate transporter (1);	0.096626	0.64402	D	0.000001	D	0.88644	0.6492	M	0.76574	2.34	0.45580	D	0.998523	D;D	0.89917	0.999;1.0	D;D	0.87578	0.959;0.998	D	0.86904	0.2056	9	0.46703	T	0.11	-22.7432	20.197	0.98244	0.0:0.0:1.0:0.0	.	105;306	O60779-2;O60779	.;S19A2_HUMAN	I	306;105;268	ENSP00000236137:T306I;ENSP00000356778:T105I;ENSP00000356776:T268I	ENSP00000236137:T306I	T	-	2	0	SLC19A2	167705939	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.573000	0.82421	2.776000	0.95493	0.585000	0.79938	ACC		0.507	SLC19A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086106.1	NM_006996		25	28	0	0	0	1	0	25	28				
TLN2	83660	broad.mit.edu	37	15	63055788	63055788	+	Missense_Mutation	SNP	G	G	T			TCGA-M7-A71Z-01A-12D-A32B-08	TCGA-M7-A71Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4906782-9697-4813-942b-94c2b8463d5c	fa6e02fd-442a-4a16-8d8d-d85944432531	g.chr15:63055788G>T	ENST00000561311.1	+	39	5218	c.4988G>T	c.(4987-4989)tGt>tTt	p.C1663F	TLN2_ENST00000306829.6_Missense_Mutation_p.C1663F|TLN2_ENST00000472902.1_Missense_Mutation_p.C56F			Q9Y4G6	TLN2_HUMAN	talin 2	1663					cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						CAGAGGGAGTGTGATTACTCC	0.622																																						ENST00000561311.1																			0				NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						c.(4987-4989)tGt>tTt		talin 2							76.0	61.0	66.0					15																	63055788		2203	4300	6503	SO:0001583	missense	83660				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	g.chr15:63055788G>T	AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.4988G>T	15.37:g.63055788G>T	ENSP00000453508:p.Cys1663Phe					TLN2_ENST00000472902.1_Missense_Mutation_p.C56F|TLN2_ENST00000306829.6_Missense_Mutation_p.C1663F	p.C1663F			Q9Y4G6	TLN2_HUMAN			39	5218	+			1663					A6NLB8	Missense_Mutation	SNP	ENST00000561311.1	37	c.4988G>T	CCDS32261.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.605060	0.87157	.	.	ENSG00000171914	ENST00000306829	T	0.77358	-1.09	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	D	0.89656	0.6778	M	0.86028	2.79	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.998	D	0.91222	0.5007	10	0.87932	D	0	-5.9704	18.8097	0.92053	0.0:0.0:1.0:0.0	.	707;1663	G1UI21;Q9Y4G6	.;TLN2_HUMAN	F	1663	ENSP00000303476:C1663F	ENSP00000303476:C1663F	C	+	2	0	TLN2	60843080	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	9.813000	0.99286	2.441000	0.82636	0.655000	0.94253	TGT		0.622	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2			15	20	1	0	2.48551e-13	1	2.83071e-13	15	20				
BRI3BP	140707	broad.mit.edu	37	12	125509710	125509710	+	Missense_Mutation	SNP	G	G	A	rs145269757		TCGA-M7-A71Z-01A-12D-A32B-08	TCGA-M7-A71Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4906782-9697-4813-942b-94c2b8463d5c	fa6e02fd-442a-4a16-8d8d-d85944432531	g.chr12:125509710G>A	ENST00000341446.8	+	3	581	c.490G>A	c.(490-492)Gtc>Atc	p.V164I		NM_080626.5	NP_542193.3			BRI3 binding protein											large_intestine(1)|lung(8)|ovary(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.35e-05)|Epithelial(86;0.000426)|all cancers(50;0.00576)		CGTGCGGGTCGTCCTGTTTTC	0.607																																						ENST00000341446.8																			0				large_intestine(1)|lung(8)|ovary(1)	10						c.(490-492)Gtc>Atc		BRI3 binding protein		G	ILE/VAL	0,4406		0,0,2203	142.0	105.0	117.0		490	-1.3	0.7	12	dbSNP_134	117	1,8599	1.2+/-3.3	0,1,4299	no	missense	BRI3BP	NM_080626.5	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	164/252	125509710	1,13005	2203	4300	6503	SO:0001583	missense	140707					integral to membrane|mitochondrial outer membrane		g.chr12:125509710G>A	AF284094	CCDS9262.1	12q24.1	2008-08-04			ENSG00000184992	ENSG00000184992			14251	protein-coding gene	gene with protein product		615627				11860200, 17765869	Standard	NM_080626		Approved	BNAS1, KG19, HCCR-2	uc001uha.1	Q8WY22	OTTHUMG00000168548	ENST00000341446.8:c.490G>A	12.37:g.125509710G>A	ENSP00000340761:p.Val164Ile						p.V164I	NM_080626.5	NP_542193.3	Q8WY22	BRI3B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.35e-05)|Epithelial(86;0.000426)|all cancers(50;0.00576)	3	581	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		164						Missense_Mutation	SNP	ENST00000341446.8	37	c.490G>A	CCDS9262.1	.	.	.	.	.	.	.	.	.	.	g	11.57	1.677540	0.29783	0.0	1.16E-4	ENSG00000184992	ENST00000341446	.	.	.	5.09	-1.29	0.09288	.	0.599281	0.18785	N	0.131231	T	0.06416	0.0165	N	0.00707	-1.245	0.19775	N	0.999951	B	0.10296	0.003	B	0.08055	0.003	T	0.39231	-0.9624	9	0.08837	T	0.75	-9.1128	6.0023	0.19527	0.4848:0.0:0.3918:0.1234	.	164	Q8WY22	BRI3B_HUMAN	I	164	.	ENSP00000340761:V164I	V	+	1	0	BRI3BP	124075663	0.000000	0.05858	0.742000	0.31022	0.858000	0.48976	-0.594000	0.05733	-0.146000	0.11274	-0.230000	0.12252	GTC		0.607	BRI3BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400200.2	NM_080626		10	83	0	0	0	1	0	10	83				
GLIS1	148979	broad.mit.edu	37	1	53990499	53990499	+	Missense_Mutation	SNP	C	C	T			TCGA-M7-A71Z-01A-12D-A32B-08	TCGA-M7-A71Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4906782-9697-4813-942b-94c2b8463d5c	fa6e02fd-442a-4a16-8d8d-d85944432531	g.chr1:53990499C>T	ENST00000312233.2	-	5	1585	c.1019G>A	c.(1018-1020)cGc>cAc	p.R340H		NM_147193.2	NP_671726.2			GLIS family zinc finger 1											endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						GACGTGCTTGCGGAGGGAGCT	0.637																																						ENST00000312233.2																			0				endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						c.(1018-1020)cGc>cAc		GLIS family zinc finger 1							199.0	160.0	173.0					1																	53990499		2203	4300	6503	SO:0001583	missense	148979				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr1:53990499C>T	AK093474	CCDS582.1	1p32.3	2008-02-05			ENSG00000174332	ENSG00000174332		"""Zinc fingers, C2H2-type"""	29525	protein-coding gene	gene with protein product		610378				12042312, 14500813	Standard	NM_147193		Approved	FLJ36155	uc001cvr.1	Q8NBF1	OTTHUMG00000008079	ENST00000312233.2:c.1019G>A	1.37:g.53990499C>T	ENSP00000309653:p.Arg340His						p.R340H	NM_147193.2	NP_671726.2	Q8NBF1	GLIS1_HUMAN			5	1585	-			340						Missense_Mutation	SNP	ENST00000312233.2	37	c.1019G>A	CCDS582.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.534887	0.85812	.	.	ENSG00000174332	ENST00000312233	T	0.35789	1.29	4.2	4.2	0.49525	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.139499	0.32488	N	0.006033	T	0.54095	0.1837	L	0.45698	1.435	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.59757	-0.7394	10	0.87932	D	0	.	16.9142	0.86147	0.0:1.0:0.0:0.0	.	340	Q8NBF1	GLIS1_HUMAN	H	340	ENSP00000309653:R340H	ENSP00000309653:R340H	R	-	2	0	GLIS1	53763087	1.000000	0.71417	1.000000	0.80357	0.668000	0.39293	7.810000	0.86072	2.074000	0.62210	0.313000	0.20887	CGC		0.637	GLIS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022109.1	NM_147193		15	78	0	0	0	1	0	15	78				
HIVEP2	3097	broad.mit.edu	37	6	143081568	143081568	+	Missense_Mutation	SNP	C	C	A	rs376862866		TCGA-M7-A71Z-01A-12D-A32B-08	TCGA-M7-A71Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4906782-9697-4813-942b-94c2b8463d5c	fa6e02fd-442a-4a16-8d8d-d85944432531	g.chr6:143081568C>A	ENST00000367604.1	-	8	6496	c.5857G>T	c.(5857-5859)Gta>Tta	p.V1953L	HIVEP2_ENST00000367603.2_Missense_Mutation_p.V1953L|HIVEP2_ENST00000012134.2_Missense_Mutation_p.V1953L			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1953					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		CCGTGGGGTACGGCGCCAACA	0.478																																					Esophageal Squamous(107;843 1510 13293 16805 42198)	ENST00000367603.2																			0				NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100						c.(5857-5859)Gta>Tta		human immunodeficiency virus type I enhancer binding protein 2							98.0	96.0	97.0					6																	143081568		1951	4133	6084	SO:0001583	missense	3097				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:143081568C>A	M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"""Zinc fingers, C2H2-type"""	4921	protein-coding gene	gene with protein product	"""c-myc intron binding protein 1"""	143054	"""human immunodeficiency virus type I enhancer-binding protein 2"""			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.5857G>T	6.37:g.143081568C>A	ENSP00000356576:p.Val1953Leu					HIVEP2_ENST00000367604.1_Missense_Mutation_p.V1953L|HIVEP2_ENST00000012134.2_Missense_Mutation_p.V1953L	p.V1953L	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)	9	6599	-			1953					Q02646|Q5THT5|Q9NS05	Missense_Mutation	SNP	ENST00000367604.1	37	c.5857G>T	CCDS43510.1	.	.	.	.	.	.	.	.	.	.	C	10.96	1.498018	0.26861	.	.	ENSG00000010818	ENST00000367604;ENST00000367603;ENST00000012134	T;T;T	0.02140	4.43;4.43;4.43	6.05	5.18	0.71444	.	0.216683	0.46758	D	0.000277	T	0.00637	0.0021	N	0.14661	0.345	0.28157	N	0.929141	B	0.20261	0.043	B	0.16289	0.015	T	0.47983	-0.9074	10	0.16896	T	0.51	-9.5347	15.2738	0.73726	0.0:0.933:0.0:0.067	.	1953	P31629	ZEP2_HUMAN	L	1953	ENSP00000356576:V1953L;ENSP00000356575:V1953L;ENSP00000012134:V1953L	ENSP00000012134:V1953L	V	-	1	0	HIVEP2	143123261	0.924000	0.31332	0.591000	0.28745	0.958000	0.62258	1.934000	0.40163	1.556000	0.49512	0.650000	0.86243	GTA		0.478	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042495.1			26	49	1	0	2.41591e-17	1	2.83007e-17	26	49				
PDE1C	5137	broad.mit.edu	37	7	32109962	32109962	+	Missense_Mutation	SNP	G	G	A			TCGA-M7-A71Z-01A-12D-A32B-08	TCGA-M7-A71Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4906782-9697-4813-942b-94c2b8463d5c	fa6e02fd-442a-4a16-8d8d-d85944432531	g.chr7:32109962G>A	ENST00000396191.1	-	1	499	c.44C>T	c.(43-45)tCt>tTt	p.S15F	PDE1C_ENST00000396182.2_Missense_Mutation_p.S15F|PDE1C_ENST00000396184.3_Missense_Mutation_p.S15F|PDE1C_ENST00000396193.1_Intron|PDE1C_ENST00000321453.7_Missense_Mutation_p.S15F	NM_001191057.1	NP_001177986.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	15					activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)	cytosol (GO:0005829)	calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)		Caffeine(DB00201)	GTATTTCAGAGAGTTGCTCTC	0.527																																						ENST00000396184.3																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81						c.(43-45)tCt>tTt		phosphodiesterase 1C, calmodulin-dependent 70kDa							151.0	154.0	153.0					7																	32109962		2203	4300	6503	SO:0001583	missense	5137				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr7:32109962G>A	U40371	CCDS5437.1, CCDS55099.1, CCDS55100.1	7p15.1-p14.3	2008-05-15	2002-08-29		ENSG00000154678	ENSG00000154678	3.1.4.17	"""Phosphodiesterases"""	8776	protein-coding gene	gene with protein product		602987	"""phosphodiesterase 1C, calmodulin-dependent (70kD)"""			8557689	Standard	XM_005249769		Approved	Hcam3	uc003tco.2	Q14123	OTTHUMG00000023836	ENST00000396191.1:c.44C>T	7.37:g.32109962G>A	ENSP00000379494:p.Ser15Phe					PDE1C_ENST00000396193.1_Intron|PDE1C_ENST00000396182.2_Missense_Mutation_p.S15F|PDE1C_ENST00000321453.7_Missense_Mutation_p.S15F|PDE1C_ENST00000396191.1_Missense_Mutation_p.S15F	p.S15F	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	GBM - Glioblastoma multiforme(11;0.216)		2	248	-			15					B3KPC6|E9PE92|Q14124|Q8NB10	Missense_Mutation	SNP	ENST00000396191.1	37	c.44C>T	CCDS55099.1	.	.	.	.	.	.	.	.	.	.	G	32	5.156848	0.94686	.	.	ENSG00000154678	ENST00000396191;ENST00000321453;ENST00000396184;ENST00000396182;ENST00000396189	T;T;T;T	0.73152	-0.72;-0.72;-0.7;-0.7	4.94	4.94	0.65067	.	.	.	.	.	T	0.74114	0.3674	L	0.34521	1.04	0.43263	D	0.995204	P;D	0.61697	0.887;0.99	P;P	0.56398	0.751;0.797	T	0.77477	-0.2573	9	0.87932	D	0	.	18.3128	0.90206	0.0:0.0:1.0:0.0	.	15;15	Q14123-2;Q14123	.;PDE1C_HUMAN	F	15	ENSP00000379494:S15F;ENSP00000318105:S15F;ENSP00000379487:S15F;ENSP00000379485:S15F	ENSP00000318105:S15F	S	-	2	0	PDE1C	32076487	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	9.459000	0.97638	2.706000	0.92434	0.655000	0.94253	TCT		0.527	PDE1C-006	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328458.1			36	57	0	0	0	1	0	36	57				
CRB1	23418	broad.mit.edu	37	1	197390342	197390342	+	Missense_Mutation	SNP	G	G	T			TCGA-M7-A71Z-01A-12D-A32B-08	TCGA-M7-A71Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4906782-9697-4813-942b-94c2b8463d5c	fa6e02fd-442a-4a16-8d8d-d85944432531	g.chr1:197390342G>T	ENST00000367400.3	+	6	1519	c.1384G>T	c.(1384-1386)Gat>Tat	p.D462Y	CRB1_ENST00000367399.2_Missense_Mutation_p.D350Y|CRB1_ENST00000476483.1_3'UTR|CRB1_ENST00000543483.1_Missense_Mutation_p.D161Y|CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000538660.1_Missense_Mutation_p.D462Y|CRB1_ENST00000535699.1_Missense_Mutation_p.D393Y|CRB1_ENST00000544212.1_5'UTR	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	462	EGF-like 11. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TCACTTCCAAGATGGCCAGCA	0.483																																						ENST00000367400.3																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						c.(1384-1386)Gat>Tat		crumbs homolog 1 (Drosophila)							113.0	95.0	101.0					1																	197390342		2203	4300	6503	SO:0001583	missense	23418				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	g.chr1:197390342G>T		CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.1384G>T	1.37:g.197390342G>T	ENSP00000356370:p.Asp462Tyr					CRB1_ENST00000535699.1_Missense_Mutation_p.D393Y|CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000538660.1_Missense_Mutation_p.D462Y|CRB1_ENST00000543483.1_Missense_Mutation_p.D161Y|CRB1_ENST00000544212.1_5'UTR|CRB1_ENST00000476483.1_3'UTR|CRB1_ENST00000367399.2_Missense_Mutation_p.D350Y	p.D462Y	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN			6	1519	+			462			EGF-like 11.		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	ENST00000367400.3	37	c.1384G>T	CCDS1390.1	.	.	.	.	.	.	.	.	.	.	G	15.18	2.755689	0.49362	.	.	ENSG00000134376	ENST00000535699;ENST00000538660;ENST00000367400;ENST00000367399;ENST00000543483;ENST00000367401	D;D;D;D;D	0.89617	-2.26;-2.26;-2.26;-2.26;-2.54	5.66	-1.07	0.09968	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.92038	0.7477	M	0.79614	2.46	0.58432	D	0.999996	D;D;D;P;D	0.76494	0.999;0.97;0.991;0.874;0.976	D;P;P;P;D	0.74348	0.983;0.865;0.904;0.487;0.917	D	0.88511	0.3089	9	0.87932	D	0	.	6.4808	0.22061	0.5075:0.1283:0.3642:0.0	.	462;393;350;111;462	B7Z5T2;F5H0L2;P82279-3;P82279-4;P82279	.;.;.;.;CRUM1_HUMAN	Y	393;462;462;350;161;111	ENSP00000438786:D393Y;ENSP00000438091:D462Y;ENSP00000356370:D462Y;ENSP00000356369:D350Y;ENSP00000439579:D161Y	ENSP00000356369:D350Y	D	+	1	0	CRB1	195656965	0.893000	0.30496	0.188000	0.23233	0.636000	0.38137	0.431000	0.21444	-0.461000	0.06993	0.585000	0.79938	GAT		0.483	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253		30	44	1	0	3.57733e-08	1	3.96407e-08	30	44				
BCORL1	63035	broad.mit.edu	37	X	129149433	129149433	+	Silent	SNP	C	C	T			TCGA-M7-A71Z-01A-12D-A32B-08	TCGA-M7-A71Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4906782-9697-4813-942b-94c2b8463d5c	fa6e02fd-442a-4a16-8d8d-d85944432531	g.chrX:129149433C>T	ENST00000218147.7	+	4	2882	c.2685C>T	c.(2683-2685)ttC>ttT	p.F895F	BCORL1_ENST00000540052.1_Silent_p.F895F|BCORL1_ENST00000359304.2_Silent_p.F895F|BCORL1_ENST00000303743.5_Silent_p.F895F			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	895					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.S894fs*26(1)		breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						GGGGCTCCTTCGTTCCAGAGC	0.562																																						ENST00000540052.1																			1	Deletion - Frameshift(1)	p.S894fs*26(1)	ovary(1)	breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						c.(2683-2685)ttC>ttT		BCL6 corepressor-like 1							51.0	48.0	49.0					X																	129149433		2203	4300	6503	SO:0001819	synonymous_variant	63035				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chrX:129149433C>T	AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"""Ankyrin repeat domain containing"""	25657	protein-coding gene	gene with protein product		300688	"""chromosome X open reading frame 10"", ""BCL6 co-repressor-like 1"""	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.2685C>T	X.37:g.129149433C>T						BCORL1_ENST00000359304.2_Silent_p.F895F|BCORL1_ENST00000303743.5_Silent_p.F895F|BCORL1_ENST00000218147.7_Silent_p.F895F	p.F895F	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN			3	2729	+			895					B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Silent	SNP	ENST00000218147.7	37	c.2685C>T	CCDS14616.1	.	.	.	.	.	.	.	.	.	.	C	1.925	-0.447483	0.04572	.	.	ENSG00000085185	ENST00000441294	.	.	.	5.31	-2.29	0.06805	.	.	.	.	.	T	0.30541	0.0768	.	.	.	0.20074	N	0.999936	.	.	.	.	.	.	T	0.33828	-0.9853	4	.	.	.	-12.2043	7.9198	0.29839	0.0:0.4062:0.1148:0.479	.	.	.	.	C	331	.	.	R	+	1	0	BCORL1	128977114	0.002000	0.14202	0.211000	0.23655	0.967000	0.64934	-0.431000	0.06965	-0.423000	0.07394	-0.475000	0.04921	CGT		0.562	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		4	16	0	0	0	1	0	4	16				
MACF1	23499	broad.mit.edu	37	1	39782157	39782157	+	Missense_Mutation	SNP	C	C	G			TCGA-M7-A71Z-01A-12D-A32B-08	TCGA-M7-A71Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4906782-9697-4813-942b-94c2b8463d5c	fa6e02fd-442a-4a16-8d8d-d85944432531	g.chr1:39782157C>G	ENST00000372915.3	+	27	3646	c.3559C>G	c.(3559-3561)Ctg>Gtg	p.L1187V	MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000317713.7_Missense_Mutation_p.L1187V|MACF1_ENST00000567887.1_Missense_Mutation_p.L1219V|MACF1_ENST00000361689.2_Missense_Mutation_p.L1187V|MACF1_ENST00000564288.1_Missense_Mutation_p.L1182V|MACF1_ENST00000539005.1_Missense_Mutation_p.L1187V|MACF1_ENST00000545844.1_Missense_Mutation_p.L1187V			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1187					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGAAGTAGTACTGGCAGATCT	0.438																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(3544-3546)Ctg>Gtg		microtubule-actin crosslinking factor 1							178.0	173.0	175.0					1																	39782157		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39782157C>G	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.3559C>G	1.37:g.39782157C>G	ENSP00000362006:p.Leu1187Val					MACF1_ENST00000317713.7_Missense_Mutation_p.L1187V|MACF1_ENST00000372915.3_Missense_Mutation_p.L1187V|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000539005.1_Missense_Mutation_p.L1187V|MACF1_ENST00000545844.1_Missense_Mutation_p.L1187V|MACF1_ENST00000567887.1_Missense_Mutation_p.L1219V|MACF1_ENST00000361689.2_Missense_Mutation_p.L1187V	p.L1182V			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		28	4321	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	1187					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.3544C>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.57|12.57	1.976382|1.976382	0.34848|0.34848	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000524432;ENST00000530262|ENST00000372925	T;T;T;T;T;T;T|.	0.76060|.	-0.99;-0.99;-0.99;-0.99;-0.99;-0.99;-0.99|.	6.06|6.06	6.06|6.06	0.98353|0.98353	.|.	.|.	.|.	.|.	.|.	T|T	0.39759|0.39759	0.1090|0.1090	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	B;B;B|.	0.23735|.	0.001;0.09;0.016|.	B;B;B|.	0.23574|.	0.003;0.047;0.043|.	T|T	0.29150|0.29150	-1.0021|-1.0021	9|5	0.17832|.	T|.	0.49|.	.|.	15.3505|15.3505	0.74380|0.74380	0.1395:0.8605:0.0:0.0|0.1395:0.8605:0.0:0.0	.|.	1187;1187;1152|.	F8W8Q1;Q9UPN3-2;Q9UPN3-3|.	.;.;.|.	V|S	1187;1187;1187;1187;1187;1145;1336|320	ENSP00000439537:L1187V;ENSP00000362006:L1187V;ENSP00000354573:L1187V;ENSP00000313438:L1187V;ENSP00000444364:L1187V;ENSP00000435070:L1145V;ENSP00000437059:L1336V|.	ENSP00000313438:L1187V|.	L|T	+|+	1|2	2|0	MACF1|MACF1	39554744|39554744	0.992000|0.992000	0.36948|0.36948	0.993000|0.993000	0.49108|0.49108	0.985000|0.985000	0.73830|0.73830	4.097000|4.097000	0.57741|0.57741	2.882000|2.882000	0.98803|0.98803	0.655000|0.655000	0.94253|0.94253	CTG|ACT		0.438	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		30	113	0	0	0	1	0	30	113				
LARS	51520	broad.mit.edu	37	5	145547808	145547808	+	Missense_Mutation	SNP	T	T	G			TCGA-M7-A71Z-01A-12D-A32B-08	TCGA-M7-A71Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4906782-9697-4813-942b-94c2b8463d5c	fa6e02fd-442a-4a16-8d8d-d85944432531	g.chr5:145547808T>G	ENST00000394434.2	-	5	481	c.315A>C	c.(313-315)aaA>aaC	p.K105N	LARS_ENST00000545646.1_Intron|LARS_ENST00000510191.1_Missense_Mutation_p.K51N|LARS_ENST00000511505.1_Intron|LARS_ENST00000274562.9_Missense_Mutation_p.K78N	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	105					gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	CTATTTCTCTTTTCAACTTAT	0.338																																						ENST00000394434.2																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34						c.(313-315)aaA>aaC		leucyl-tRNA synthetase	L-Leucine(DB00149)						85.0	86.0	86.0					5																	145547808		2203	4300	6503	SO:0001583	missense	51520				leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding	g.chr5:145547808T>G	AF151026	CCDS34265.1	5q32	2012-10-02			ENSG00000133706	ENSG00000133706	6.1.1.4	"""Aminoacyl tRNA synthetases / Class I"""	6512	protein-coding gene	gene with protein product	"""leucine tRNA ligase 1, cytoplasmic"""	151350				6933703	Standard	NM_020117		Approved	HSPC192, FLJ10595, FLJ21788, LARS1, LEUS, RNTLS	uc003lnx.1	Q9P2J5	OTTHUMG00000163429	ENST00000394434.2:c.315A>C	5.37:g.145547808T>G	ENSP00000377954:p.Lys105Asn					LARS_ENST00000510191.1_Missense_Mutation_p.K51N|LARS_ENST00000511505.1_Intron|LARS_ENST00000545646.1_Intron|LARS_ENST00000274562.9_Missense_Mutation_p.K78N	p.K105N	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		5	481	-			105					A2RRR4|A7E266|B4DJ10|Q2TU79|Q9NSE1	Missense_Mutation	SNP	ENST00000394434.2	37	c.315A>C	CCDS34265.1	.	.	.	.	.	.	.	.	.	.	T	24.8	4.573402	0.86542	.	.	ENSG00000133706	ENST00000394434;ENST00000510191;ENST00000274562;ENST00000360930	T;T;T	0.68331	-0.32;-0.29;-0.24	5.4	5.4	0.78164	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.85682	D	0.000000	T	0.81245	0.4782	M	0.78456	2.415	0.58432	D	0.999998	P;D	0.53745	0.864;0.962	B;D	0.67725	0.265;0.953	T	0.82860	-0.0248	10	0.54805	T	0.06	-4.5433	15.3854	0.74695	0.0:0.0:0.0:1.0	.	78;105	B4DER1;Q9P2J5	.;SYLC_HUMAN	N	105;51;78;105	ENSP00000377954:K105N;ENSP00000426005:K51N;ENSP00000274562:K78N	ENSP00000274562:K78N	K	-	3	2	LARS	145528001	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.443000	0.44881	2.189000	0.69895	0.459000	0.35465	AAA		0.338	LARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000373367.1	NM_020117		23	63	0	0	0	1	0	23	63				
L3MBTL2	83746	broad.mit.edu	37	22	41620063	41620063	+	Missense_Mutation	SNP	C	C	T			TCGA-M7-A71Z-01A-12D-A32B-08	TCGA-M7-A71Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4906782-9697-4813-942b-94c2b8463d5c	fa6e02fd-442a-4a16-8d8d-d85944432531	g.chr22:41620063C>T	ENST00000216237.5	+	9	1140	c.982C>T	c.(982-984)Cgg>Tgg	p.R328W		NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2 (Drosophila)	328					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GCAGGGCATGCGGCTGGAAGT	0.597																																						ENST00000216237.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(982-984)Cgg>Tgg		l(3)mbt-like 2 (Drosophila)							119.0	79.0	92.0					22																	41620063		2203	4300	6503	SO:0001583	missense	83746				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding	g.chr22:41620063C>T	AJ305226	CCDS14011.1	22q13.31-q13.33	2008-06-11			ENSG00000100395	ENSG00000100395			18594	protein-coding gene	gene with protein product		611865				11682070	Standard	NM_031488		Approved	H-l(3)mbt-l, DKFZP761I141, dJ756G23.3	uc003azo.3	Q969R5	OTTHUMG00000150942	ENST00000216237.5:c.982C>T	22.37:g.41620063C>T	ENSP00000216237:p.Arg328Trp						p.R328W	NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN			9	1140	+			328					Q8TEN1|Q96SC4|Q9BQI2|Q9UGS4	Missense_Mutation	SNP	ENST00000216237.5	37	c.982C>T	CCDS14011.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.587614	0.86851	.	.	ENSG00000100395	ENST00000216237	T	0.33654	1.4	5.41	4.37	0.52481	.	0.000000	0.85682	D	0.000000	T	0.61553	0.2356	M	0.80847	2.515	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.67296	-0.5706	10	0.72032	D	0.01	.	13.809	0.63250	0.2782:0.7217:0.0:0.0	.	328;328	Q969R5-3;Q969R5	.;LMBL2_HUMAN	W	328	ENSP00000216237:R328W	ENSP00000216237:R328W	R	+	1	2	L3MBTL2	39950009	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.942000	0.40243	1.252000	0.44001	0.655000	0.94253	CGG		0.597	L3MBTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320613.1	NM_031488		4	58	0	0	0	1	0	4	58				
OR5AR1	219493	broad.mit.edu	37	11	56431734	56431734	+	Silent	SNP	C	C	T			TCGA-M7-A71Z-01A-12D-A32B-08	TCGA-M7-A71Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4906782-9697-4813-942b-94c2b8463d5c	fa6e02fd-442a-4a16-8d8d-d85944432531	g.chr11:56431734C>T	ENST00000302969.2	+	1	597	c.573C>T	c.(571-573)gaC>gaT	p.D191D		NM_001004730.1	NP_001004730.1	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene)	191						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						CTTGCTCAGACACCTACATCA	0.458																																						ENST00000302969.2																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						c.(571-573)gaC>gaT		olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene)							198.0	172.0	181.0					11																	56431734		2201	4296	6497	SO:0001819	synonymous_variant	219493				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56431734C>T	AB065740	CCDS31535.1	11q11	2013-10-10	2013-10-10		ENSG00000172459	ENSG00000172459		"""GPCR / Class A : Olfactory receptors"""	15260	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily AR, member 1"""				Standard	NM_001004730		Approved		uc010rjm.2	Q8NGP9	OTTHUMG00000154213	ENST00000302969.2:c.573C>T	11.37:g.56431734C>T							p.D191D	NM_001004730.1	NP_001004730.1	Q8NGP9	O5AR1_HUMAN			1	597	+			191					Q6IF61	Silent	SNP	ENST00000302969.2	37	c.573C>T	CCDS31535.1																																																																																				0.458	OR5AR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334434.1	NM_001004730		12	123	0	0	0	1	0	12	123				
ANKRD36	375248	broad.mit.edu	37	2	97779509	97779509	+	Silent	SNP	C	C	A			TCGA-M7-A71Z-01A-12D-A32B-08	TCGA-M7-A71Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4906782-9697-4813-942b-94c2b8463d5c	fa6e02fd-442a-4a16-8d8d-d85944432531	g.chr2:97779509C>A	ENST00000461153.2	+	1	277	c.33C>A	c.(31-33)acC>acA	p.T11T	ANKRD36_ENST00000420699.2_Silent_p.T11T			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	11										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						GGTGGCCCACCCTCATGGAGC	0.552																																						ENST00000420699.2																			0				endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						c.(31-33)acC>acA		ankyrin repeat domain 36							87.0	88.0	88.0					2																	97779509		1949	4148	6097	SO:0001819	synonymous_variant	375248							g.chr2:97779509C>A	BC046186	CCDS54379.1	2q11.2	2013-09-24			ENSG00000135976	ENSG00000135976		"""Ankyrin repeat domain containing"""	24079	protein-coding gene	gene with protein product						12975309	Standard	NM_001164315		Approved	UNQ2430	uc010yva.2	A6QL64	OTTHUMG00000155256	ENST00000461153.2:c.33C>A	2.37:g.97779509C>A						ANKRD36_ENST00000461153.2_Silent_p.T11T	p.T11T	NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN			1	277	+			11					B4E3I8|Q6UX02|Q86X62|Q9HCD1	Silent	SNP	ENST00000461153.2	37	c.33C>A	CCDS54379.1																																																																																				0.552	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339154.5			6	108	1	0	0.0215528	1	0.0220916	6	108				
WDR47	22911	broad.mit.edu	37	1	109553736	109553736	+	Missense_Mutation	SNP	C	C	T			TCGA-M7-A71Z-01A-12D-A32B-08	TCGA-M7-A71Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4906782-9697-4813-942b-94c2b8463d5c	fa6e02fd-442a-4a16-8d8d-d85944432531	g.chr1:109553736C>T	ENST00000369962.3	-	5	1154	c.932G>A	c.(931-933)cGc>cAc	p.R311H	WDR47_ENST00000357672.3_Missense_Mutation_p.R283H|WDR47_ENST00000361054.3_Missense_Mutation_p.R283H|WDR47_ENST00000369965.4_Missense_Mutation_p.R311H|WDR47_ENST00000400794.3_Missense_Mutation_p.R318H			O94967	WDR47_HUMAN	WD repeat domain 47	311					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		ATTCAGAGAGCGGGTCATATA	0.453																																						ENST00000357672.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20						c.(847-849)cGc>cAc		WD repeat domain 47							249.0	270.0	263.0					1																	109553736		2203	4296	6499	SO:0001583	missense	22911							g.chr1:109553736C>T	AB020700	CCDS30787.1, CCDS44186.1, CCDS44187.1	1p13.3	2013-01-09			ENSG00000085433	ENSG00000085433		"""WD repeat domain containing"""	29141	protein-coding gene	gene with protein product		615734				10048485	Standard	NM_014969		Approved	KIAA0893	uc001dwl.3	O94967	OTTHUMG00000011734	ENST00000369962.3:c.932G>A	1.37:g.109553736C>T	ENSP00000358979:p.Arg311His					WDR47_ENST00000400794.3_Missense_Mutation_p.R318H|WDR47_ENST00000369962.3_Missense_Mutation_p.R311H|WDR47_ENST00000369965.4_Missense_Mutation_p.R311H|WDR47_ENST00000361054.3_Missense_Mutation_p.R283H	p.R283H			O94967	WDR47_HUMAN		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)	4	1223	-		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)	311					A8MX09|Q5TYV7|Q5TYV8|Q5TYV9|Q8IXT7|Q8IYU9	Missense_Mutation	SNP	ENST00000369962.3	37	c.848G>A	CCDS44187.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.760094	0.89932	.	.	ENSG00000085433	ENST00000400794;ENST00000369962;ENST00000361054;ENST00000369965;ENST00000357672	T;T;T;T;T	0.62941	0.01;0.05;-0.01;0.0;-0.01	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.74207	0.3686	L	0.61218	1.895	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;0.999	D;D;D;D	0.83275	0.994;0.996;0.996;0.994	T	0.76929	-0.2777	10	0.87932	D	0	2.1548	19.0191	0.92906	0.0:1.0:0.0:0.0	.	283;318;311;311	O94967-2;A8MX09;O94967;O94967-3	.;.;WDR47_HUMAN;.	H	318;311;283;311;283	ENSP00000383599:R318H;ENSP00000358979:R311H;ENSP00000354339:R283H;ENSP00000358982:R311H;ENSP00000350301:R283H	ENSP00000350301:R283H	R	-	2	0	WDR47	109355259	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.487000	0.81328	2.479000	0.83701	0.467000	0.42956	CGC		0.453	WDR47-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000032414.2	NM_014969		5	300	0	0	0	1	0	5	300				
TENC1	23371	broad.mit.edu	37	12	53452948	53452948	+	Missense_Mutation	SNP	C	C	A			TCGA-M7-A71Z-01A-12D-A32B-08	TCGA-M7-A71Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4906782-9697-4813-942b-94c2b8463d5c	fa6e02fd-442a-4a16-8d8d-d85944432531	g.chr12:53452948C>A	ENST00000314250.6	+	18	1813	c.1523C>A	c.(1522-1524)tCt>tAt	p.S508Y	TENC1_ENST00000379902.3_Missense_Mutation_p.S384Y|TENC1_ENST00000552570.1_Missense_Mutation_p.S508Y|TENC1_ENST00000314276.3_Missense_Mutation_p.S518Y|TENC1_ENST00000549700.1_Missense_Mutation_p.S508Y|TENC1_ENST00000451358.1_Missense_Mutation_p.S508Y|TENC1_ENST00000546602.1_Missense_Mutation_p.S508Y	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase (tensin 2)	508	Pro-rich.				cellular homeostasis (GO:0019725)|collagen metabolic process (GO:0032963)|intracellular signal transduction (GO:0035556)|kidney development (GO:0001822)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|response to muscle activity (GO:0014850)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						CCCATGCTCTCTGTCAGCAGC	0.701																																						ENST00000314250.6																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						c.(1522-1524)tCt>tAt		tensin like C1 domain containing phosphatase (tensin 2)							21.0	27.0	25.0					12																	53452948		2197	4295	6492	SO:0001583	missense	23371				intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding	g.chr12:53452948C>A	AF518729	CCDS8842.1, CCDS8843.1, CCDS8844.1	12q13.13	2013-02-14	2004-03-05			ENSG00000111077		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	19737	protein-coding gene	gene with protein product	"""tensin 2"""	607717	"""tensin like C1 domain-containing phosphatase"""				Standard	NM_015319		Approved	KIAA1075, C1-TEN, TNS2	uc001sbp.3	Q63HR2	OTTHUMG00000169730	ENST00000314250.6:c.1523C>A	12.37:g.53452948C>A	ENSP00000319684:p.Ser508Tyr					TENC1_ENST00000549700.1_Missense_Mutation_p.S508Y|TENC1_ENST00000451358.1_Missense_Mutation_p.S508Y|TENC1_ENST00000546602.1_Missense_Mutation_p.S508Y|TENC1_ENST00000314276.3_Missense_Mutation_p.S518Y|TENC1_ENST00000379902.3_Missense_Mutation_p.S384Y|TENC1_ENST00000552570.1_Missense_Mutation_p.S508Y	p.S508Y	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN			18	1813	+			508			Pro-rich.		A2VDF2|A2VDF3|A2VDI8|A5PKY4|Q2NL80|Q76MW6|Q7Z5T9|Q8NFF9|Q8NFG0|Q96P25|Q9NT29|Q9UPS7	Missense_Mutation	SNP	ENST00000314250.6	37	c.1523C>A	CCDS8843.1	.	.	.	.	.	.	.	.	.	.	C	17.61	3.431388	0.62844	.	.	ENSG00000111077	ENST00000379902;ENST00000314276;ENST00000314250;ENST00000451358;ENST00000443113;ENST00000546602;ENST00000552570;ENST00000549700	D;D;D;D;D;D;D	0.95980	-3.81;-3.82;-3.82;-3.87;-3.85;-3.82;-3.85	4.74	2.89	0.33648	.	0.222696	0.38381	N	0.001713	D	0.93893	0.8046	L	0.49126	1.545	0.30891	N	0.730352	B;B;B;B	0.33171	0.4;0.4;0.132;0.207	B;B;B;B	0.43225	0.299;0.412;0.157;0.299	D	0.92878	0.6320	10	0.87932	D	0	.	8.6092	0.33793	0.0:0.8098:0.0:0.1902	.	508;508;508;518	Q63HR2-6;Q63HR2-2;Q63HR2;Q63HR2-4	.;.;TENC1_HUMAN;.	Y	384;518;508;508;508;508;508;508	ENSP00000369232:S384Y;ENSP00000319756:S518Y;ENSP00000319684:S508Y;ENSP00000393362:S508Y;ENSP00000449363:S508Y;ENSP00000447021:S508Y;ENSP00000449361:S508Y	ENSP00000319684:S508Y	S	+	2	0	TENC1	51739215	0.967000	0.33354	0.972000	0.41901	0.993000	0.82548	4.223000	0.58587	1.143000	0.42306	0.561000	0.74099	TCT		0.701	TENC1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405779.1	NM_170754		3	40	1	0	0.115264	1	0.115264	3	40				
GPR179	440435	broad.mit.edu	37	17	36499576	36499576	+	Missense_Mutation	SNP	G	G	A			TCGA-M7-A71Z-01A-12D-A32B-08	TCGA-M7-A71Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4906782-9697-4813-942b-94c2b8463d5c	fa6e02fd-442a-4a16-8d8d-d85944432531	g.chr17:36499576G>A	ENST00000342292.4	-	1	117	c.97C>T	c.(97-99)Cgc>Tgc	p.R33C		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	33					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				GGCAGAGAGCGGATGGGCCGT	0.652																																						ENST00000342292.4																			0				breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						c.(97-99)Cgc>Tgc		G protein-coupled receptor 179							27.0	31.0	29.0					17																	36499576		1945	4132	6077	SO:0001583	missense	440435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr17:36499576G>A		CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"""GPCR / Class C : Orphans"""	31371	protein-coding gene	gene with protein product		614515	"""GPR158-like 1"", ""GPR179"""	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.97C>T	17.37:g.36499576G>A	ENSP00000345060:p.Arg33Cys						p.R33C	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN			1	117	-	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)	33						Missense_Mutation	SNP	ENST00000342292.4	37	c.97C>T	CCDS42308.1	.	.	.	.	.	.	.	.	.	.	G	11.91	1.780493	0.31502	.	.	ENSG00000188888	ENST00000342292	D	0.81659	-1.52	5.54	3.42	0.39159	.	0.251717	0.31381	N	0.007753	T	0.80884	0.4709	L	0.57536	1.79	0.09310	N	1	D	0.76494	0.999	P	0.53689	0.732	T	0.72497	-0.4275	10	0.87932	D	0	-2.0751	6.548	0.22416	0.0836:0.0:0.5938:0.3227	.	33	Q6PRD1	GP179_HUMAN	C	33	ENSP00000345060:R33C	ENSP00000345060:R33C	R	-	1	0	GPR179	33753102	0.012000	0.17670	0.138000	0.22173	0.225000	0.24961	1.269000	0.33074	1.267000	0.44247	0.655000	0.94253	CGC		0.652	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2			12	27	0	0	0	1	0	12	27				
UNC13C	440279	broad.mit.edu	37	15	54306846	54306846	+	Silent	SNP	G	G	A	rs377052322		TCGA-M7-A71Z-01A-12D-A32B-08	TCGA-M7-A71Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4906782-9697-4813-942b-94c2b8463d5c	fa6e02fd-442a-4a16-8d8d-d85944432531	g.chr15:54306846G>A	ENST00000260323.11	+	1	1746	c.1746G>A	c.(1744-1746)tcG>tcA	p.S582S	UNC13C_ENST00000537900.1_Silent_p.S582S|UNC13C_ENST00000545554.1_Silent_p.S582S	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	582					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TGTCATCTTCGGACCGGGAGC	0.453													G|||	1	0.000199681	0.0	0.0	5008	,	,		20188	0.0		0.0	False		,,,				2504	0.001					ENST00000545554.1																			0				breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121						c.(1744-1746)tcG>tcA		unc-13 homolog C (C. elegans)		G		1,3809		0,1,1904	71.0	69.0	70.0		1746	-5.8	0.9	15		70	0,8232		0,0,4116	no	coding-synonymous	UNC13C	NM_001080534.1		0,1,6020	AA,AG,GG		0.0,0.0262,0.0083		582/2215	54306846	1,12041	1905	4116	6021	SO:0001819	synonymous_variant	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54306846G>A	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.1746G>A	15.37:g.54306846G>A						UNC13C_ENST00000260323.11_Silent_p.S582S|UNC13C_ENST00000537900.1_Silent_p.S582S	p.S582S			Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	1	1746	+			582					Q0P613|Q8ND48|Q96NP3	Silent	SNP	ENST00000260323.11	37	c.1746G>A	CCDS45264.1																																																																																				0.453	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		17	29	0	0	0	1	0	17	29				
SEMA7A	8482	broad.mit.edu	37	15	74703021	74703021	+	Missense_Mutation	SNP	C	C	T			TCGA-M7-A71Z-01A-12D-A32B-08	TCGA-M7-A71Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4906782-9697-4813-942b-94c2b8463d5c	fa6e02fd-442a-4a16-8d8d-d85944432531	g.chr15:74703021C>T	ENST00000261918.4	-	14	2493	c.1945G>A	c.(1945-1947)Gcc>Acc	p.A649T	SEMA7A_ENST00000543145.2_Missense_Mutation_p.A635T|SEMA7A_ENST00000542748.1_Missense_Mutation_p.A484T	NM_003612.3	NP_003603.1	O75326	SEM7A_HUMAN	semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)	649					axon extension (GO:0048675)|axon guidance (GO:0007411)|immune response (GO:0006955)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|olfactory lobe development (GO:0021988)|osteoblast differentiation (GO:0001649)|positive regulation of axon extension (GO:0045773)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of protein phosphorylation (GO:0001934)|regulation of inflammatory response (GO:0050727)	anchored component of membrane (GO:0031225)|external side of plasma membrane (GO:0009897)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						CAGAGGGAGGCGGCCAGGGCA	0.687																																						ENST00000261918.4																			0				breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						c.(1945-1947)Gcc>Acc		semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)							43.0	45.0	44.0					15																	74703021		2197	4293	6490	SO:0001583	missense	8482				axon guidance|immune response|inflammatory response|integrin-mediated signaling pathway|positive regulation of axon extension|positive regulation of ERK1 and ERK2 cascade|positive regulation of macrophage cytokine production|regulation of inflammatory response	anchored to membrane|external side of plasma membrane	receptor activity	g.chr15:74703021C>T	AF069493	CCDS10262.1, CCDS53958.1, CCDS53959.1	15q22.3-q23	2014-07-18	2006-02-23		ENSG00000138623	ENSG00000138623		"""Semaphorins"", ""CD molecules"", ""Blood group antigens"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10741	protein-coding gene	gene with protein product	"""John Milton Hagen blood group"", ""H-Sema K1"""	607961	"""sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A"", ""sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A (JMH blood group)"""	SEMAL		9721204	Standard	NM_003612		Approved	H-Sema-L, CD108	uc002axv.3	O75326	OTTHUMG00000139000	ENST00000261918.4:c.1945G>A	15.37:g.74703021C>T	ENSP00000261918:p.Ala649Thr					SEMA7A_ENST00000542748.1_Missense_Mutation_p.A484T|SEMA7A_ENST00000543145.2_Missense_Mutation_p.A635T	p.A649T	NM_003612.3	NP_003603.1	O75326	SEM7A_HUMAN			14	2493	-			649					B4DDP7|F5H1S0|Q1XE81|Q1XE82|Q1XE83|Q1XE84|Q3MIY5	Missense_Mutation	SNP	ENST00000261918.4	37	c.1945G>A	CCDS10262.1	.	.	.	.	.	.	.	.	.	.	C	1.427	-0.571254	0.03882	.	.	ENSG00000138623	ENST00000261918;ENST00000543145;ENST00000542748	T;T;T	0.22539	1.97;1.95;2.2	4.55	-1.98	0.07480	.	0.376195	0.24059	N	0.041940	T	0.08846	0.0219	N	0.14661	0.345	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.06405	0.002;0.001	T	0.21999	-1.0229	10	0.26408	T	0.33	-8.2664	5.7579	0.18182	0.1214:0.4578:0.0:0.4208	.	635;649	F5H1S0;O75326	.;SEM7A_HUMAN	T	649;635;484	ENSP00000261918:A649T;ENSP00000438966:A635T;ENSP00000441493:A484T	ENSP00000261918:A649T	A	-	1	0	SEMA7A	72490074	0.000000	0.05858	0.003000	0.11579	0.184000	0.23303	-1.409000	0.02483	-0.839000	0.04212	-1.737000	0.00689	GCC		0.687	SEMA7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272904.3	NM_003612		34	29	0	0	0	1	0	34	29				
PSD4	23550	broad.mit.edu	37	2	113942610	113942610	+	Missense_Mutation	SNP	G	G	T			TCGA-M7-A71Z-01A-12D-A32B-08	TCGA-M7-A71Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4906782-9697-4813-942b-94c2b8463d5c	fa6e02fd-442a-4a16-8d8d-d85944432531	g.chr2:113942610G>T	ENST00000245796.6	+	3	1328	c.1133G>T	c.(1132-1134)gGa>gTa	p.G378V	PSD4_ENST00000441564.3_Missense_Mutation_p.G378V	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	378					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ggatgtgtcggatctgatctt	0.537																																						ENST00000245796.6																			0				cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1132-1134)gGa>gTa		pleckstrin and Sec7 domain containing 4							244.0	212.0	223.0					2																	113942610		2203	4300	6503	SO:0001583	missense	23550				regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity	g.chr2:113942610G>T	U63127	CCDS33276.1	2q13	2013-01-10			ENSG00000125637	ENSG00000125637		"""Pleckstrin homology (PH) domain containing"""	19096	protein-coding gene	gene with protein product		614442				12082148	Standard	XM_005263634		Approved	TIC, EFA6B	uc002tjc.3	Q8NDX1	OTTHUMG00000153339	ENST00000245796.6:c.1133G>T	2.37:g.113942610G>T	ENSP00000245796:p.Gly378Val					PSD4_ENST00000441564.2_Missense_Mutation_p.G378V	p.G378V	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN			3	1328	+			378					A6NEG7|A8K1Y0|O95621|Q4ZG34|Q6GPH8|Q8IYP4	Missense_Mutation	SNP	ENST00000245796.6	37	c.1133G>T	CCDS33276.1	.	.	.	.	.	.	.	.	.	.	G	13.49	2.252915	0.39797	.	.	ENSG00000125637	ENST00000245796;ENST00000441564	T;T	0.11821	2.86;2.74	4.28	-1.17	0.09648	.	2.324060	0.01686	N	0.026413	T	0.11623	0.0283	N	0.24115	0.695	0.09310	N	0.999996	P;P	0.51351	0.944;0.906	P;B	0.44811	0.461;0.272	T	0.14448	-1.0472	10	0.54805	T	0.06	.	4.8572	0.13564	0.3757:0.1491:0.4752:0.0	.	378;378	Q8NDX1-2;Q8NDX1	.;PSD4_HUMAN	V	378	ENSP00000245796:G378V;ENSP00000413997:G378V	ENSP00000245796:G378V	G	+	2	0	PSD4	113659081	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.416000	0.07097	-0.380000	0.07894	-0.269000	0.10298	GGA		0.537	PSD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330789.1	NM_012455		82	93	1	0	1.59627e-33	1	1.92491e-33	82	93				
SSTR4	6754	broad.mit.edu	37	20	23016627	23016627	+	Silent	SNP	C	C	T			TCGA-M7-A71Z-01A-12D-A32B-08	TCGA-M7-A71Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4906782-9697-4813-942b-94c2b8463d5c	fa6e02fd-442a-4a16-8d8d-d85944432531	g.chr20:23016627C>T	ENST00000255008.3	+	1	571	c.507C>T	c.(505-507)ggC>ggT	p.G169G	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	169					arachidonic acid metabolic process (GO:0019369)|cell migration (GO:0016477)|cellular response to glucocorticoid stimulus (GO:0071385)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|negative regulation of cell proliferation (GO:0008285)|positive regulation of MAPK cascade (GO:0043410)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					TCAACCTGGGCGTGTGGCTGG	0.697																																					Esophageal Squamous(15;850 1104 16640)	ENST00000255008.3																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32						c.(505-507)ggC>ggT		somatostatin receptor 4							48.0	54.0	52.0					20																	23016627		2197	4293	6490	SO:0001819	synonymous_variant	6754				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	g.chr20:23016627C>T		CCDS42856.1	20p11.21	2014-07-11			ENSG00000132671	ENSG00000132671		"""GPCR / Class A : Somatostatin receptors"""	11333	protein-coding gene	gene with protein product		182454				8483934	Standard	NM_001052		Approved		uc002wsr.2	P31391	OTTHUMG00000032054	ENST00000255008.3:c.507C>T	20.37:g.23016627C>T						RP4-753D10.3_ENST00000440921.1_RNA	p.G169G	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN			1	571	+	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)		169					Q17RM1|Q17RM3|Q9UIY1	Silent	SNP	ENST00000255008.3	37	c.507C>T	CCDS42856.1																																																																																				0.697	SSTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078308.1			29	38	0	0	0	1	0	29	38				
F10	2159	broad.mit.edu	37	13	113798308	113798308	+	Missense_Mutation	SNP	G	G	A	rs144711550	byFrequency	TCGA-M7-A71Z-01A-12D-A32B-08	TCGA-M7-A71Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4906782-9697-4813-942b-94c2b8463d5c	fa6e02fd-442a-4a16-8d8d-d85944432531	g.chr13:113798308G>A	ENST00000375559.3	+	6	684	c.646G>A	c.(646-648)Gac>Aac	p.D216N	F10_ENST00000409306.1_Missense_Mutation_p.D216N|F10_ENST00000375551.3_Missense_Mutation_p.D216N	NM_000504.3	NP_000495.1	P00742	FA10_HUMAN	coagulation factor X	216					blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|blood coagulation, intrinsic pathway (GO:0007597)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of cell migration (GO:0030335)|positive regulation of protein kinase B signaling (GO:0051897)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|intrinsic component of external side of plasma membrane (GO:0031233)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phospholipid binding (GO:0005543)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	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)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Antihemophilic Factor(DB00025)|Apixaban(DB06605)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)|Menadione(DB00170)|Rivaroxaban(DB06228)	GAACCCCTTCGACCTGCTTGA	0.632													G|||	2	0.000399361	0.0	0.0014	5008	,	,		18717	0.0		0.0	False		,,,				2504	0.001					ENST00000375559.3																			0				endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18						c.(646-648)Gac>Aac		coagulation factor X	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)	G	ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	139.0	109.0	119.0		646	-10.2	0.0	13	dbSNP_134	119	6,8594	5.0+/-18.6	0,6,4294	yes	missense	F10	NM_000504.3	23	0,7,6496	AA,AG,GG		0.0698,0.0227,0.0538	benign	216/489	113798308	7,12999	2203	4300	6503	SO:0001583	missense	2159				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity	g.chr13:113798308G>A		CCDS9530.1	13q34	2012-10-02			ENSG00000126218	ENSG00000126218	3.4.21.6		3528	protein-coding gene	gene with protein product		613872					Standard	XM_005268298		Approved		uc001vsx.3	P00742	OTTHUMG00000017374	ENST00000375559.3:c.646G>A	13.37:g.113798308G>A	ENSP00000364709:p.Asp216Asn					F10_ENST00000375551.3_Missense_Mutation_p.D216N|F10_ENST00000409306.1_Missense_Mutation_p.D216N	p.D216N	NM_000504.3	NP_000495.1	P00742	FA10_HUMAN	all cancers(43;0.0805)|Epithelial(84;0.231)		6	684	+	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)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	216					Q14340	Missense_Mutation	SNP	ENST00000375559.3	37	c.646G>A	CCDS9530.1	.	.	.	.	.	.	.	.	.	.	G	2.162	-0.391850	0.04932	2.27E-4	6.98E-4	ENSG00000126218	ENST00000409306;ENST00000375551;ENST00000375559	D;D;D	0.95554	-3.72;-3.74;-2.95	5.12	-10.2	0.00374	.	2.017250	0.01860	N	0.036577	D	0.86070	0.5845	N	0.11560	0.145	0.09310	N	1	B;B;B	0.16396	0.017;0.017;0.003	B;B;B	0.09377	0.004;0.004;0.001	T	0.78555	-0.2159	10	0.27082	T	0.32	.	5.6887	0.17817	0.0767:0.3162:0.5091:0.098	.	216;216;216	B7ZBK1;Q5JVE8;P00742	.;.;FA10_HUMAN	N	216	ENSP00000387092:D216N;ENSP00000364701:D216N;ENSP00000364709:D216N	ENSP00000364701:D216N	D	+	1	0	F10	112846309	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-5.743000	0.00101	-3.763000	0.00110	-0.339000	0.08088	GAC		0.632	F10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045841.3			9	36	0	0	0	1	0	9	36				
SLC4A8	9498	broad.mit.edu	37	12	51868974	51868974	+	Missense_Mutation	SNP	G	G	A			TCGA-M7-A71Z-01A-12D-A32B-08	TCGA-M7-A71Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4906782-9697-4813-942b-94c2b8463d5c	fa6e02fd-442a-4a16-8d8d-d85944432531	g.chr12:51868974G>A	ENST00000453097.2	+	16	2373	c.2156G>A	c.(2155-2157)cGt>cAt	p.R719H	SLC4A8_ENST00000514353.3_Missense_Mutation_p.R666H|SLC4A8_ENST00000358657.3_Missense_Mutation_p.R746H|SLC4A8_ENST00000394856.1_Missense_Mutation_p.R666H	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1			solute carrier family 4, sodium bicarbonate cotransporter, member 8											NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		AAGACGAGCCGTTATTTCCCA	0.428																																						ENST00000453097.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55						c.(2155-2157)cGt>cAt		solute carrier family 4, sodium bicarbonate cotransporter, member 8							162.0	154.0	157.0					12																	51868974		2203	4300	6503	SO:0001583	missense	9498				bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity	g.chr12:51868974G>A	AB018282	CCDS44890.1, CCDS58232.1, CCDS58233.1, CCDS73470.1	12q13.13	2013-05-22			ENSG00000050438	ENSG00000050438		"""Solute carriers"""	11034	protein-coding gene	gene with protein product		605024				11133997	Standard	NM_001039960		Approved	NBC3	uc001rys.2	Q2Y0W8	OTTHUMG00000169489	ENST00000453097.2:c.2156G>A	12.37:g.51868974G>A	ENSP00000405812:p.Arg719His					SLC4A8_ENST00000514353.3_Missense_Mutation_p.R666H|SLC4A8_ENST00000394856.1_Missense_Mutation_p.R666H|SLC4A8_ENST00000358657.3_Missense_Mutation_p.R746H	p.R719H	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.15)	16	2373	+			719						Missense_Mutation	SNP	ENST00000453097.2	37	c.2156G>A	CCDS44890.1	.	.	.	.	.	.	.	.	.	.	G	15.31	2.796562	0.50208	.	.	ENSG00000050438	ENST00000358657;ENST00000453097;ENST00000394856;ENST00000319957;ENST00000514353;ENST00000551071	T;T;T;T	0.79845	-1.31;-1.31;2.59;2.59	5.56	4.45	0.53987	Bicarbonate transporter, C-terminal (1);	0.045624	0.85682	D	0.000000	T	0.74558	0.3732	L	0.49455	1.56	0.80722	D	1	B;B;B;B	0.29571	0.066;0.171;0.249;0.11	B;B;B;B	0.33196	0.019;0.021;0.159;0.073	T	0.73538	-0.3951	10	0.52906	T	0.07	.	8.522	0.33282	0.1661:0.0:0.8339:0.0	.	666;746;719;719	E7EML0;Q2Y0W8-2;Q2Y0W8;Q2Y0W8-3	.;.;S4A8_HUMAN;.	H	746;719;666;719;666;666	ENSP00000351483:R746H;ENSP00000405812:R719H;ENSP00000378325:R666H;ENSP00000442561:R666H	ENSP00000315789:R719H	R	+	2	0	SLC4A8	50155241	0.206000	0.23470	1.000000	0.80357	0.977000	0.68977	0.907000	0.28531	2.792000	0.96026	0.557000	0.71058	CGT		0.428	SLC4A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404356.1	NM_004858		7	79	0	0	0	1	0	7	79				
DDX21	9188	broad.mit.edu	37	10	70728789	70728789	+	Missense_Mutation	SNP	T	T	C			TCGA-M7-A71Z-01A-12D-A32B-08	TCGA-M7-A71Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4906782-9697-4813-942b-94c2b8463d5c	fa6e02fd-442a-4a16-8d8d-d85944432531	g.chr10:70728789T>C	ENST00000354185.4	+	7	1246	c.1148T>C	c.(1147-1149)tTt>tCt	p.F383S	RN7SL373P_ENST00000577512.1_RNA	NM_001256910.1|NM_004728.3	NP_001243839.1|NP_004719.2	Q9NR30	DDX21_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 21	383	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|osteoblast differentiation (GO:0001649)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	20						CATTGGGTATTTAATGTTGCC	0.358																																						ENST00000354185.4																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(1147-1149)tTt>tCt		DEAD (Asp-Glu-Ala-Asp) box helicase 21							124.0	123.0	124.0					10																	70728789		2203	4300	6503	SO:0001583	missense	9188					nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr10:70728789T>C	U41387	CCDS31211.1, CCDS73144.1	10q21	2013-05-13	2012-02-23		ENSG00000165732	ENSG00000165732		"""DEAD-boxes"""	2744	protein-coding gene	gene with protein product		606357	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 21"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 21"""			8614622, 18180292	Standard	NM_004728		Approved	RH-II/GU, GURDB	uc001jov.2	Q9NR30	OTTHUMG00000018366	ENST00000354185.4:c.1148T>C	10.37:g.70728789T>C	ENSP00000346120:p.Phe383Ser						p.F383S	NM_001256910.1|NM_004728.3	NP_001243839.1|NP_004719.2	Q9NR30	DDX21_HUMAN			7	1246	+			383			Helicase ATP-binding.		B2RDL0|Q13436|Q5VX41|Q68D35	Missense_Mutation	SNP	ENST00000354185.4	37	c.1148T>C	CCDS31211.1	.	.	.	.	.	.	.	.	.	.	T	15.73	2.919011	0.52546	.	.	ENSG00000165732	ENST00000354185	T	0.04654	3.58	5.77	-4.83	0.03161	DEAD-like helicase (2);	0.162448	0.56097	D	0.000026	T	0.01454	0.0047	N	0.00504	-1.425	0.32030	N	0.599623	B	0.09022	0.002	B	0.15052	0.012	T	0.38023	-0.9680	10	0.28530	T	0.3	-39.5218	16.4155	0.83732	0.8446:0.0:0.0:0.1554	.	383	Q9NR30	DDX21_HUMAN	S	383	ENSP00000346120:F383S	ENSP00000346120:F383S	F	+	2	0	DDX21	70398795	1.000000	0.71417	0.506000	0.27664	0.998000	0.95712	2.071000	0.41500	-0.581000	0.05937	0.533000	0.62120	TTT		0.358	DDX21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048374.1	NM_004728		3	93	0	0	0	1	0	3	93				
MCAM	4162	broad.mit.edu	37	11	119182607	119182607	+	Missense_Mutation	SNP	C	C	T	rs201956849		TCGA-M7-A71Z-01A-12D-A32B-08	TCGA-M7-A71Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4906782-9697-4813-942b-94c2b8463d5c	fa6e02fd-442a-4a16-8d8d-d85944432531	g.chr11:119182607C>T	ENST00000264036.4	-	10	1210	c.1196G>A	c.(1195-1197)cGg>cAg	p.R399Q	MCAM_ENST00000392814.1_Missense_Mutation_p.R348Q|MCAM_ENST00000530144.2_5'Flank	NM_006500.2	NP_006491.2	P43121	MUC18_HUMAN	melanoma cell adhesion molecule	399	Ig-like C2-type 2.				anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|glomerular filtration (GO:0003094)|vascular wound healing (GO:0061042)	external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1)	22		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		TCCTGCCTCCCGTTTCAGGTC	0.602																																						ENST00000392814.1																			0				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1)	22						c.(1042-1044)cGg>cAg		melanoma cell adhesion molecule							110.0	111.0	111.0					11																	119182607		2199	4295	6494	SO:0001583	missense	4162				anatomical structure morphogenesis|cell adhesion	integral to membrane|plasma membrane		g.chr11:119182607C>T	X68264	CCDS31690.1	11q23.3	2013-01-29				ENSG00000076706		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6934	protein-coding gene	gene with protein product	"""Gicerin"""	155735				2602381, 10702685	Standard	XM_005271552		Approved	MUC18, CD146	uc001pwf.3	P43121		ENST00000264036.4:c.1196G>A	11.37:g.119182607C>T	ENSP00000264036:p.Arg399Gln					MCAM_ENST00000264036.4_Missense_Mutation_p.R399Q	p.R348Q			P43121	MUC18_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)	5	1772	-		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	399			Ig-like C2-type 2.		O95812|Q59E86|Q6PHR3|Q6ZTR2	Missense_Mutation	SNP	ENST00000264036.4	37	c.1043G>A	CCDS31690.1	.	.	.	.	.	.	.	.	.	.	C	14.19	2.460485	0.43736	.	.	ENSG00000076706	ENST00000264036;ENST00000392814	T;T	0.20738	2.05;2.05	4.73	4.73	0.59995	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.41743	0.1172	M	0.79926	2.475	0.33688	D	0.612952	D	0.69078	0.997	P	0.59171	0.853	T	0.54337	-0.8309	9	0.28530	T	0.3	-18.3624	13.0577	0.58990	0.0:1.0:0.0:0.0	.	399	P43121	MUC18_HUMAN	Q	399;348	ENSP00000264036:R399Q;ENSP00000376561:R348Q	ENSP00000264036:R399Q	R	-	2	0	MCAM	118687817	0.044000	0.20184	0.802000	0.32245	0.169000	0.22640	1.858000	0.39408	2.438000	0.82558	0.462000	0.41574	CGG		0.602	MCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388332.2			4	107	0	0	0	1	0	4	107				
UBXN4	23190	broad.mit.edu	37	2	136537785	136537785	+	Frame_Shift_Del	DEL	T	T	-			TCGA-M7-A71Z-01A-12D-A32B-08	TCGA-M7-A71Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4906782-9697-4813-942b-94c2b8463d5c	fa6e02fd-442a-4a16-8d8d-d85944432531	g.chr2:136537785delT	ENST00000272638.9	+	12	1529	c.1218delT	c.(1216-1218)tctfs	p.S408fs	UBXN4_ENST00000490163.1_3'UTR	NM_014607.3	NP_055422.1	Q92575	UBXN4_HUMAN	UBX domain protein 4	408					response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						TTGTACACTCTTCCAGCGGAG	0.428																																						ENST00000272638.9																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						c.(1216-1218)tcfs		UBX domain protein 4							163.0	149.0	153.0					2																	136537785		1904	4128	6032	SO:0001589	frameshift_variant	23190				response to unfolded protein	endoplasmic reticulum membrane|nuclear envelope	protein binding	g.chr2:136537785delT	D87684	CCDS42761.1	2q21.3-q22.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000144224	ENSG00000144224		"""UBX domain containing"""	14860	protein-coding gene	gene with protein product	"""erasin"""	611216	"""UBX domain-containing 2"", ""UBX domain containing 2"""	UBXDC1, UBXD2		16968747	Standard	NM_014607		Approved	KIAA0242	uc002tur.3	Q92575	OTTHUMG00000153577	ENST00000272638.9:c.1218delT	2.37:g.136537785delT	ENSP00000272638:p.Ser408fs					UBXN4_ENST00000490163.1_3'UTR	p.S408fs	NM_014607.3	NP_055422.1	Q92575	UBXN4_HUMAN			12	1529	+			408					A8K9W4|Q4ZG56|Q8IYM5	Frame_Shift_Del	DEL	ENST00000272638.9	37	c.1218delT	CCDS42761.1																																																																																				0.428	UBXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331696.1	NM_014607		33	79						33	79	---	---	---	---
THBS4	7060	broad.mit.edu	37	5	79372774	79372776	+	In_Frame_Del	DEL	TGA	TGA	-			TCGA-M7-A71Z-01A-12D-A32B-08	TCGA-M7-A71Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4906782-9697-4813-942b-94c2b8463d5c	fa6e02fd-442a-4a16-8d8d-d85944432531	g.chr5:79372774_79372776delTGA	ENST00000350881.2	+	16	2179_2181	c.1989_1991delTGA	c.(1987-1992)tgtgat>tgt	p.D668del	THBS4_ENST00000511733.1_In_Frame_Del_p.D577del|CTD-2201I18.1_ENST00000503007.1_RNA|CTD-2201I18.1_ENST00000514042.1_RNA	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	668					behavioral response to pain (GO:0048266)|endothelial cell-cell adhesion (GO:0071603)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|positive regulation of cell division (GO:0051781)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of tissue remodeling (GO:0034103)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|tissue remodeling (GO:0048771)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		GTGACGAGTGTGATGATGATGAT	0.562																																						ENST00000350881.2																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34						c.(1987-1992)tgt>tg		thrombospondin 4																																				SO:0001651	inframe_deletion	7060				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity	g.chr5:79372774_79372776delTGA		CCDS4049.1	5q13	2008-05-15			ENSG00000113296	ENSG00000113296			11788	protein-coding gene	gene with protein product		600715				7852353	Standard	NM_003248		Approved		uc021yaw.1	P35443	OTTHUMG00000108173	ENST00000350881.2:c.1989_1991delTGA	5.37:g.79372783_79372785delTGA	ENSP00000339730:p.Asp668del					CTD-2201I18.1_ENST00000503007.1_RNA|CTD-2201I18.1_ENST00000514042.1_RNA|THBS4_ENST00000511733.1_In_Frame_Del_p.CD572del	p.CD663del	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)	16	2179_2181	+		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)	663					B2R909|Q86TG2	In_Frame_Del	DEL	ENST00000350881.2	37	c.1989_1991delTGA	CCDS4049.1																																																																																				0.562	THBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226977.1			8	266						8	266	---	---	---	---
SNAP91	9892	broad.mit.edu	37	6	84350856	84350856	+	Frame_Shift_Del	DEL	T	T	-			TCGA-M7-A71Z-01A-12D-A32B-08	TCGA-M7-A71Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4906782-9697-4813-942b-94c2b8463d5c	fa6e02fd-442a-4a16-8d8d-d85944432531	g.chr6:84350856delT	ENST00000439399.2	-	8	1040	c.724delA	c.(724-726)actfs	p.T242fs	SNAP91_ENST00000369694.2_Frame_Shift_Del_p.T242fs|SNAP91_ENST00000521743.1_Frame_Shift_Del_p.T242fs|SNAP91_ENST00000195649.6_Frame_Shift_Del_p.T242fs|SNAP91_ENST00000520302.1_Frame_Shift_Del_p.T242fs|SNAP91_ENST00000521485.1_Frame_Shift_Del_p.T242fs|SNAP91_ENST00000520213.1_Frame_Shift_Del_p.T242fs|SNAP91_ENST00000437520.1_Frame_Shift_Del_p.T242fs|SNAP91_ENST00000428679.2_Frame_Shift_Del_p.T242fs	NM_014841.2	NP_055656.1	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	242					clathrin coat assembly (GO:0048268)|protein transport (GO:0015031)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|protein kinase binding (GO:0019901)			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		GTCATTCTAGTTAGAAATCGT	0.289																																						ENST00000428679.2																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(724-726)ctfs		synaptosomal-associated protein, 91kDa							53.0	51.0	52.0					6																	84350856		1793	4048	5841	SO:0001589	frameshift_variant	9892				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding	g.chr6:84350856delT	AB014556	CCDS47455.1, CCDS56437.1, CCDS56438.1	6q15	2012-12-07	2012-12-07		ENSG00000065609	ENSG00000065609			14986	protein-coding gene	gene with protein product		607923	"""synaptosomal-associated protein, 91 kDa (mouse) homolog"", ""synaptosomal-associated protein, 91kDa homolog (mouse)"""			9734811, 12493563, 10436022	Standard	NM_014841		Approved	KIAA0656, AP180, CALM	uc003pka.3	O60641	OTTHUMG00000015114	ENST00000439399.2:c.724delA	6.37:g.84350856delT	ENSP00000400459:p.Thr242fs					SNAP91_ENST00000439399.2_Frame_Shift_Del_p.T242fs|SNAP91_ENST00000520302.1_Frame_Shift_Del_p.T242fs|SNAP91_ENST00000369694.2_Frame_Shift_Del_p.T242fs|SNAP91_ENST00000520213.1_Frame_Shift_Del_p.T242fs|SNAP91_ENST00000521743.1_Frame_Shift_Del_p.T242fs|SNAP91_ENST00000521485.1_Frame_Shift_Del_p.T242fs|SNAP91_ENST00000195649.6_Frame_Shift_Del_p.T242fs|SNAP91_ENST00000437520.1_Frame_Shift_Del_p.T242fs	p.T242fs			O60641	AP180_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0967)	8	1317	-		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)	242					A8K0L7|E5RI02|Q5JX13|Q68DL9|Q6P9D3|Q9NTY7	Frame_Shift_Del	DEL	ENST00000439399.2	37	c.724delA	CCDS47455.1																																																																																				0.289	SNAP91-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000375296.1			2	4						2	4	---	---	---	---
SKIDA1	387640	broad.mit.edu	37	10	21805466	21805467	+	In_Frame_Ins	INS	-	-	CCTCCT	rs112207161	byFrequency	TCGA-M7-A71Z-01A-12D-A32B-08	TCGA-M7-A71Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4906782-9697-4813-942b-94c2b8463d5c	fa6e02fd-442a-4a16-8d8d-d85944432531	g.chr10:21805466_21805467insCCTCCT	ENST00000449193.2	-	4	3537_3538	c.1285_1286insAGGAGG	c.(1285-1287)ggg>gAGGAGGgg	p.428_429insEE	SKIDA1_ENST00000444772.3_In_Frame_Ins_p.349_350insEE|SKIDA1_ENST00000487107.1_5'Flank	NM_207371.3	NP_997254.3	Q1XH10	SKDA1_HUMAN	SKI/DACH domain containing 1	347						nucleus (GO:0005634)		p.E428_G429insEE(2)									CCCGCTGCccccctcctcctcc	0.619														2708	0.540735	0.916	0.4063	5008	,	,		10303	0.3244		0.5408	False		,,,				2504	0.3517					ENST00000449193.2																			2	Insertion - In frame(2)	p.E428_G429insEE(2)	soft_tissue(2)								c.(1285-1287)ggg>AGGAGGggg		SKI/DACH domain containing 1				3173,56,18,597		1435,46,11,246,5,0,0,3,1,175						3.0	1.0		dbSNP_132	7	4189,51,27,3619		1322,36,14,1495,1,0,13,2,9,1051	no	codingComplex	C10orf140	NM_207371.3		2757,82,25,1741,6,0,13,5,10,1226	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		46.8805,17.4558,37.2379				7362,107,45,4216				SO:0001652	inframe_insertion	387640							g.chr10:21805466_21805467insCCTCCT	AK131456	CCDS44363.1	10p12.31	2012-06-13	2012-06-13	2012-06-13	ENSG00000180592	ENSG00000180592			32697	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 140"""	C10orf140			Standard	NM_207371		Approved	FLJ45187	uc021pnx.1	Q1XH10	OTTHUMG00000017797	ENST00000449193.2:c.1280_1285dupAGGAGG	10.37:g.21805467_21805472dupCCTCCT	ENSP00000410041:p.Glu427_Glu428dup					SKIDA1_ENST00000444772.3_In_Frame_Ins_p.349_350insRR	p.428_429insRR	NM_207371.3	NP_997254.3					4	3537_3538	-								B1ANA5|Q6ZMX4|Q8N3C3	In_Frame_Ins	INS	ENST00000449193.2	37	c.1285_1286insAGGAGG	CCDS44363.1																																																																																				0.619	SKIDA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286950.2	NM_207371		2	4						2	4	---	---	---	---
NRGN	4900	broad.mit.edu	37	11	124615605	124615605	+	Frame_Shift_Del	DEL	C	C	-			TCGA-M7-A71Z-01A-12D-A32B-08	TCGA-M7-A71Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4906782-9697-4813-942b-94c2b8463d5c	fa6e02fd-442a-4a16-8d8d-d85944432531	g.chr11:124615605delC	ENST00000284292.6	+	2	461	c.222delC	c.(220-222)ggcfs	p.G74fs	RP11-677M14.2_ENST00000531241.1_RNA|NRGN_ENST00000412681.2_Frame_Shift_Del_p.G74fs	NM_001126181.1|NM_006176.2	NP_001119653.1|NP_006167.1	Q92686	NEUG_HUMAN	neurogranin (protein kinase C substrate, RC3)	74	Collagen-like.				nervous system development (GO:0007399)|signal transduction (GO:0007165)		calmodulin binding (GO:0005516)					all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)		cgggcggcggccccAGCGGAG	0.761																																						ENST00000526916.2																			0											c.(220-222)ggfs		neurogranin (protein kinase C substrate, RC3)							3.0	4.0	3.0					11																	124615605		1257	2747	4004	SO:0001589	frameshift_variant	4900				nervous system development|signal transduction		calmodulin binding	g.chr11:124615605delC	X99075, X99076	CCDS8451.1	11q24	2008-02-01			ENSG00000154146	ENSG00000154146			8000	protein-coding gene	gene with protein product		602350				9143500	Standard	NM_006176		Approved	RC3	uc001qar.2	Q92686	OTTHUMG00000165928	ENST00000284292.6:c.222delC	11.37:g.124615605delC	ENSP00000284292:p.Gly74fs					RP11-677M14.2_ENST00000531241.1_RNA|NRGN_ENST00000284292.5_Frame_Shift_Del_p.G74fs|NRGN_ENST00000412681.1_Frame_Shift_Del_p.G74fs	p.G74fs			Q92686	NEUG_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)	2	362	+	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	74			Collagen-like.			Frame_Shift_Del	DEL	ENST00000284292.6	37	c.222delC	CCDS8451.1																																																																																				0.761	NRGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387079.3	NM_006176		2	4						2	4	---	---	---	---
LRRIQ1	84125	broad.mit.edu	37	12	85466829	85466830	+	Frame_Shift_Ins	INS	-	-	A			TCGA-M7-A71Z-01A-12D-A32B-08	TCGA-M7-A71Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4906782-9697-4813-942b-94c2b8463d5c	fa6e02fd-442a-4a16-8d8d-d85944432531	g.chr12:85466829_85466830insA	ENST00000393217.2	+	11	2901_2902	c.2840_2841insA	c.(2839-2844)acaaaafs	p.TK947fs		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	947										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		ACCTCACTTACAAAAAATTCAG	0.371																																						ENST00000393217.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83						c.(2839-2841)aaafs		leucine-rich repeats and IQ motif containing 1																																				SO:0001589	frameshift_variant	84125							g.chr12:85466829_85466830insA	AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.2846dupA	12.37:g.85466835_85466835dupA	ENSP00000376910:p.Thr947fs						p.K947fs	NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN		GBM - Glioblastoma multiforme(134;0.212)	11	2901_2902	+			947					Q567P4|Q9BS17|Q9HA36	Frame_Shift_Ins	INS	ENST00000393217.2	37	c.2840_2841insA	CCDS41816.1																																																																																				0.371	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165		39	56						39	56	---	---	---	---
TPTE2P1	646405	broad.mit.edu	37	13	25527490	25527491	+	RNA	INS	-	-	AAAAAG	rs375560921|rs201773491	byFrequency	TCGA-M7-A71Z-01A-12D-A32B-08	TCGA-M7-A71Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4906782-9697-4813-942b-94c2b8463d5c	fa6e02fd-442a-4a16-8d8d-d85944432531	g.chr13:25527490_25527491insAAAAAG	ENST00000429698.1	-	0	282							Q5T6R2	TPT2L_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 1																		AGGAAGGTTCTAAAAAAAATTT	0.252														9	0.00179712	0.0008	0.0014	5008	,	,		20326	0.004		0.003	False		,,,				2504	0.0					ENST00000429698.1																			0																																																			0							g.chr13:25527490_25527491insAAAAAG			13q12.12-q12.13	2012-10-03			ENSG00000253771	ENSG00000253771			35196	pseudogene	pseudogene							Standard	NR_026730		Approved		uc010tdh.2	Q5T6R2	OTTHUMG00000016596		13.37:g.25527490_25527491insAAAAAG														0	282	-								B3KST4|B4DMH9	RNA	INS	ENST00000429698.1	37																																																																																						0.252	TPTE2P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000044206.1			4	4						4	4	---	---	---	---
LOC146880	146880	broad.mit.edu	37	17	62750914	62750914	+	RNA	DEL	T	T	-			TCGA-M7-A71Z-01A-12D-A32B-08	TCGA-M7-A71Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4906782-9697-4813-942b-94c2b8463d5c	fa6e02fd-442a-4a16-8d8d-d85944432531	g.chr17:62750914delT	ENST00000400873.3	-	0	1841					NR_026899.1																						CTGATTATGCttttttttttg	0.433																																						ENST00000400873.3																			0																																																			0							g.chr17:62750914delT																													17.37:g.62750914delT								NR_026899.1						0	1841	-									RNA	DEL	ENST00000400873.3	37																																																																																						0.433	hsa-mir-6080.1-201	KNOWN	basic	processed_transcript	processed_transcript				3	4						3	4	---	---	---	---
NUDT11	55190	broad.mit.edu	37	X	51239296	51239309	+	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCCTCGAGGCAGCC	-	rs78182391		TCGA-M7-A71Z-01A-12D-A32B-08	TCGA-M7-A71Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4906782-9697-4813-942b-94c2b8463d5c	fa6e02fd-442a-4a16-8d8d-d85944432531	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			5	5						5	5	---	---	---	---
