#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
PLS1	5357	broad.mit.edu	37	3	142389859	142389859	+	Missense_Mutation	SNP	G	G	C			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr3:142389859G>C	ENST00000337777.3	+	4	472	c.259G>C	c.(259-261)Gat>Cat	p.D87H	PLS1_ENST00000457734.2_Missense_Mutation_p.D87H|PLS1_ENST00000497002.1_Missense_Mutation_p.D87H|RN7SKP25_ENST00000362449.1_RNA	NM_002670.2	NP_002661.2	Q14651	PLSI_HUMAN	plastin 1	87						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						AAAAAGCAAAGATATCAGCAA	0.323																																						ENST00000337777.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						c.(259-261)Gat>Cat		plastin 1							108.0	101.0	103.0					3																	142389859		2203	4300	6503	SO:0001583	missense	5357					cytoplasm	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr3:142389859G>C	L20826	CCDS3125.1	3q23	2013-01-10	2010-02-10		ENSG00000120756	ENSG00000120756		"""EF-hand domain containing"""	9090	protein-coding gene	gene with protein product		602734	"""plastin 1 (I isoform)"""			8139549	Standard	NM_002670		Approved	I-plastin, Plastin-1	uc003euz.3	Q14651	OTTHUMG00000159292	ENST00000337777.3:c.259G>C	3.37:g.142389859G>C	ENSP00000336831:p.Asp87His					PLS1_ENST00000497002.1_Missense_Mutation_p.D87H|PLS1_ENST00000457734.2_Missense_Mutation_p.D87H	p.D87H	NM_002670.2	NP_002661.2	Q14651	PLSI_HUMAN			4	472	+			87					A8K2Q1|D3DNG3|Q8NEG6	Missense_Mutation	SNP	ENST00000337777.3	37	c.259G>C	CCDS3125.1	.	.	.	.	.	.	.	.	.	.	G	16.90	3.251013	0.59212	.	.	ENSG00000120756	ENST00000457734;ENST00000475296;ENST00000476044;ENST00000464320;ENST00000337777;ENST00000497002	T;T;T;T;T;T	0.75154	2.84;2.84;-0.91;2.84;2.84;2.84	5.74	5.74	0.90152	EF-hand-like domain (1);	0.087086	0.85682	D	0.000000	T	0.70876	0.3274	L	0.28115	0.83	0.80722	D	1	P	0.44578	0.838	P	0.44990	0.466	T	0.74757	-0.3557	10	0.87932	D	0	-26.1834	19.9173	0.97066	0.0:0.0:1.0:0.0	.	87	Q14651	PLSI_HUMAN	H	87;87;8;87;87;87	ENSP00000387890:D87H;ENSP00000417311:D87H;ENSP00000417481:D8H;ENSP00000418880:D87H;ENSP00000336831:D87H;ENSP00000418700:D87H	ENSP00000336831:D87H	D	+	1	0	PLS1	143872549	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.479000	0.53165	2.707000	0.92482	0.563000	0.77884	GAT		0.323	PLS1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354435.1	NM_002670		62	59	0	0	0	1	0	62	59				
ST3GAL5	8869	broad.mit.edu	37	2	86073608	86073608	+	Silent	SNP	G	G	A			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr2:86073608G>A	ENST00000377332.3	-	5	849	c.741C>T	c.(739-741)ggC>ggT	p.G247G	ST3GAL5_ENST00000393808.3_Silent_p.G224G|ST3GAL5_ENST00000393805.1_Silent_p.G219G	NM_003896.3	NP_003887.3	Q9UNP4	SIAT9_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 5	247					carbohydrate metabolic process (GO:0005975)|ganglioside biosynthetic process (GO:0001574)|glycosphingolipid biosynthetic process (GO:0006688)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	lactosylceramide alpha-2,3-sialyltransferase activity (GO:0047291)|neolactotetraosylceramide alpha-2,3-sialyltransferase activity (GO:0004513)|sialyltransferase activity (GO:0008373)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15						ACAGTGGTGCGCCCTCTGGAT	0.348																																						ENST00000377332.3																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15						c.(739-741)ggC>ggT		ST3 beta-galactoside alpha-2,3-sialyltransferase 5							123.0	119.0	120.0					2																	86073608		2203	4300	6503	SO:0001819	synonymous_variant	8869				ganglioside biosynthetic process|protein glycosylation	integral to Golgi membrane|integral to plasma membrane	lactosylceramide alpha-2,3-sialyltransferase activity|neolactotetraosylceramide alpha-2,3-sialyltransferase activity	g.chr2:86073608G>A	AB018356	CCDS1986.2, CCDS42705.1	2p11.2	2013-03-01	2005-02-07	2005-02-07	ENSG00000115525	ENSG00000115525	2.4.99.9	"""Sialyltransferases"""	10872	protein-coding gene	gene with protein product		604402	"""sialyltransferase 9 (CMP-NeuAc:lactosylceramide alpha-2,3-sialyltransferase; GM3 synthase)"""	SIAT9		9822625	Standard	NM_003896		Approved	ST3GalV, SIATGM3S	uc002sqq.1	Q9UNP4	OTTHUMG00000130171	ENST00000377332.3:c.741C>T	2.37:g.86073608G>A						ST3GAL5_ENST00000393805.1_Silent_p.G219G|ST3GAL5_ENST00000393808.3_Silent_p.G224G	p.G247G	NM_003896.3	NP_003887.3	Q9UNP4	SIAT9_HUMAN			5	849	-			247					B3KM82|D6W5L9|O94902|Q53QU1|Q6NZX4|Q6YFL1	Silent	SNP	ENST00000377332.3	37	c.741C>T	CCDS1986.2																																																																																				0.348	ST3GAL5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000252486.1	NM_003896		37	66	0	0	0	1	0	37	66				
CLSTN2	64084	broad.mit.edu	37	3	140178466	140178466	+	Silent	SNP	C	C	T	rs369133728		TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr3:140178466C>T	ENST00000458420.3	+	7	1267	c.1077C>T	c.(1075-1077)gaC>gaT	p.D359D	RP11-68L1.2_ENST00000503357.1_RNA|RP11-68L1.1_ENST00000483759.2_RNA	NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	359					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						TCAAGTTTGACGGCAGGCAGG	0.577										HNSCC(16;0.037)																											GBM(45;858 913 3709 36904 37282)	ENST00000458420.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						c.(1075-1077)gaC>gaT		calsyntenin 2		C		0,4406		0,0,2203	80.0	69.0	73.0		1077	-10.8	0.1	3		73	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	CLSTN2	NM_022131.2		0,3,6500	TT,TC,CC		0.0349,0.0,0.0231		359/956	140178466	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	64084				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr3:140178466C>T	AJ278018	CCDS3112.1	3q23	2011-07-01			ENSG00000158258	ENSG00000158258		"""Cadherins / Cadherin-related"""	17448	protein-coding gene	gene with protein product	"""cadherin-related family member 13"""	611323				12498782	Standard	NM_022131		Approved	CSTN2, CS2, FLJ39113, CDHR13	uc003etn.3	Q9H4D0	OTTHUMG00000160139	ENST00000458420.3:c.1077C>T	3.37:g.140178466C>T		HNSCC(16;0.037)				RP11-68L1.2_ENST00000503357.1_RNA	p.D359D	NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN			7	1267	+			359					B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Silent	SNP	ENST00000458420.3	37	c.1077C>T	CCDS3112.1																																																																																				0.577	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359393.3	NM_022131		8	51	0	0	0	1	0	8	51				
FHL5	9457	broad.mit.edu	37	6	97052768	97052768	+	Missense_Mutation	SNP	A	A	G			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr6:97052768A>G	ENST00000326771.2	+	4	682	c.302A>G	c.(301-303)aAg>aGg	p.K101R	FHL5_ENST00000541107.1_Missense_Mutation_p.K101R	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN	four and a half LIM domains 5	101	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		TGCTCCTCCAAGTGCTTCCAC	0.512																																						ENST00000326771.2																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27						c.(301-303)aAg>aGg		four and a half LIM domains 5							109.0	99.0	103.0					6																	97052768		2203	4300	6503	SO:0001583	missense	9457					nucleus	zinc ion binding	g.chr6:97052768A>G	AF278541	CCDS5035.1	6q16.1-q16.3	2008-02-05			ENSG00000112214	ENSG00000112214			17371	protein-coding gene	gene with protein product		605126					Standard	NM_020482		Approved	FLJ33049, ACT, dJ393D12.2	uc003pot.2	Q5TD97	OTTHUMG00000015239	ENST00000326771.2:c.302A>G	6.37:g.97052768A>G	ENSP00000326022:p.Lys101Arg					FHL5_ENST00000541107.1_Missense_Mutation_p.K101R	p.K101R	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0948)	4	682	+		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)	101			LIM zinc-binding 2.		B2RBD1|E1P526|Q5TD98|Q8WW21|Q9NQU2	Missense_Mutation	SNP	ENST00000326771.2	37	c.302A>G	CCDS5035.1	.	.	.	.	.	.	.	.	.	.	A	13.75	2.329709	0.41297	.	.	ENSG00000112214	ENST00000541107;ENST00000326771;ENST00000450218	D;D;D	0.87729	-2.29;-2.29;-2.29	5.36	4.19	0.49359	Zinc finger, LIM-type (3);	0.000000	0.47455	D	0.000224	T	0.61874	0.2382	L	0.28458	0.855	0.48830	D	0.999713	B	0.21225	0.053	B	0.23574	0.047	T	0.58329	-0.7655	10	0.05436	T	0.98	.	11.3419	0.49537	0.9283:0.0:0.0716:0.0	.	101	Q5TD97	FHL5_HUMAN	R	101	ENSP00000442357:K101R;ENSP00000326022:K101R;ENSP00000396390:K101R	ENSP00000326022:K101R	K	+	2	0	FHL5	97159489	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	6.250000	0.72435	0.974000	0.38366	-0.256000	0.11100	AAG		0.512	FHL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041559.1	NM_020482		55	64	0	0	0	1	0	55	64				
ZNF733P	643955	broad.mit.edu	37	7	62752443	62752443	+	RNA	SNP	G	G	C	rs372167638		TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr7:62752443G>C	ENST00000331425.6	-	0	992					NR_003952.1				zinc finger protein 733, pseudogene																		CTTATGTCTAGTAAGGTTTGA	0.438																																						ENST00000331425.6																			0																																																			0							g.chr7:62752443G>C			7q11.21	2012-04-20	2012-04-20	2012-04-20	ENSG00000185037	ENSG00000185037			32473	pseudogene	pseudogene			"""zinc finger protein 733"""	ZNF733			Standard	NR_003952		Approved		uc011kdj.2		OTTHUMG00000156270		7.37:g.62752443G>C								NR_003952.1						0	992	-									RNA	SNP	ENST00000331425.6	37																																																																																						0.438	ZNF733P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000343679.1			4	42	0	0	0	1	0	4	42				
ITPR3	3710	broad.mit.edu	37	6	33635015	33635015	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr6:33635015G>A	ENST00000374316.5	+	16	2721	c.1661G>A	c.(1660-1662)cGc>cAc	p.R554H	ITPR3_ENST00000605930.1_Missense_Mutation_p.R554H			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	554					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	CACATGTTCCGCCTGTGCTAC	0.642																																						ENST00000374316.5																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						c.(1660-1662)cGc>cAc		inositol 1,4,5-trisphosphate receptor, type 3							68.0	57.0	61.0					6																	33635015		2203	4300	6503	SO:0001583	missense	3710				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding	g.chr6:33635015G>A	D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"""Ion channels / Inositol triphosphate receptors"""	6182	protein-coding gene	gene with protein product		147267	"""inositol 1,4,5-triphosphate receptor, type 3"""			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.1661G>A	6.37:g.33635015G>A	ENSP00000363435:p.Arg554His					ITPR3_ENST00000605930.1_Missense_Mutation_p.R554H	p.R554H			Q14573	ITPR3_HUMAN			16	2721	+			554					Q14649|Q5TAQ2	Missense_Mutation	SNP	ENST00000374316.5	37	c.1661G>A	CCDS4783.1	.	.	.	.	.	.	.	.	.	.	G	19.71	3.878315	0.72294	.	.	ENSG00000096433	ENST00000374316	D	0.90620	-2.7	4.51	4.51	0.55191	Intracellular calcium-release channel (1);	0.060060	0.64402	D	0.000003	D	0.94722	0.8297	M	0.83483	2.645	0.53005	D	0.999967	D	0.76494	0.999	D	0.68192	0.956	D	0.95088	0.8219	10	0.59425	D	0.04	-26.2086	17.6079	0.88044	0.0:0.0:1.0:0.0	.	554	Q14573	ITPR3_HUMAN	H	554	ENSP00000363435:R554H	ENSP00000363435:R554H	R	+	2	0	ITPR3	33742993	1.000000	0.71417	1.000000	0.80357	0.336000	0.28762	7.949000	0.87791	2.222000	0.72286	0.462000	0.41574	CGC		0.642	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224		8	49	0	0	0	1	0	8	49				
SLC7A13	157724	broad.mit.edu	37	8	87229959	87229959	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr8:87229959T>C	ENST00000297524.3	-	3	1022	c.919A>G	c.(919-921)Ata>Gta	p.I307V	SLC7A13_ENST00000419776.2_Missense_Mutation_p.I298V|SLC7A13_ENST00000520624.1_5'UTR	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	307						integral component of membrane (GO:0016021)	amino acid transmembrane transporter activity (GO:0015171)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						GATTTAAATATAGAAATCAGA	0.388																																						ENST00000297524.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						c.(919-921)Ata>Gta		solute carrier family 7 (anionic amino acid transporter), member 13							77.0	89.0	85.0					8																	87229959		2203	4299	6502	SO:0001583	missense	157724					integral to membrane	amino acid transmembrane transporter activity	g.chr8:87229959T>C	AJ417661	CCDS34917.1	8q21.3	2013-07-15	2011-07-12		ENSG00000164893	ENSG00000164893		"""Solute carriers"""	23092	protein-coding gene	gene with protein product						11907033, 11943479	Standard	XM_005250804		Approved	AGT-1, XAT2	uc003ydq.1	Q8TCU3	OTTHUMG00000163663	ENST00000297524.3:c.919A>G	8.37:g.87229959T>C	ENSP00000297524:p.Ile307Val					SLC7A13_ENST00000419776.2_Missense_Mutation_p.I298V|SLC7A13_ENST00000520624.1_5'UTR	p.I307V	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN			3	1022	-			307					Q05C37|Q08AH9|Q96N84	Missense_Mutation	SNP	ENST00000297524.3	37	c.919A>G	CCDS34917.1	.	.	.	.	.	.	.	.	.	.	T	1.456	-0.563600	0.03939	.	.	ENSG00000164893	ENST00000297524;ENST00000419776	D;D	0.89343	-2.5;-2.5	5.17	-2.75	0.05914	Amino acid permease domain (1);	0.537456	0.17222	N	0.182318	T	0.71576	0.3356	N	0.12853	0.265	0.09310	N	1	B;B	0.15141	0.012;0.002	B;B	0.16722	0.016;0.011	T	0.58875	-0.7559	10	0.14656	T	0.56	.	6.101	0.20047	0.1246:0.4033:0.0:0.4721	.	298;307	Q8TCU3-2;Q8TCU3	.;S7A13_HUMAN	V	307;298	ENSP00000297524:I307V;ENSP00000410982:I298V	ENSP00000297524:I307V	I	-	1	0	SLC7A13	87299075	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.485000	0.06520	-0.184000	0.10567	-0.917000	0.02746	ATA		0.388	SLC7A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374704.1	NM_138817		15	165	0	0	0	1	0	15	165				
DNAH7	56171	broad.mit.edu	37	2	196619149	196619149	+	Silent	SNP	G	G	A			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr2:196619149G>A	ENST00000312428.6	-	63	11776	c.11676C>T	c.(11674-11676)taC>taT	p.Y3892Y	DNAH7_ENST00000409063.1_Silent_p.Y375Y	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3892					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATTTCCTGGCGTAGTTCTGCT	0.478																																						ENST00000312428.6																			0				NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						c.(11674-11676)taC>taT		dynein, axonemal, heavy chain 7							114.0	113.0	113.0					2																	196619149		1913	4123	6036	SO:0001819	synonymous_variant	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196619149G>A	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.11676C>T	2.37:g.196619149G>A						DNAH7_ENST00000409063.1_Silent_p.Y375Y	p.Y3892Y	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN			63	11776	-			3892					B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Silent	SNP	ENST00000312428.6	37	c.11676C>T	CCDS42794.1																																																																																				0.478	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		29	33	0	0	0	1	0	29	33				
TUBB8P7	197331	broad.mit.edu	37	16	90162513	90162513	+	RNA	SNP	T	T	C			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr16:90162513T>C	ENST00000564451.1	+	0	1866				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.N415N(2)									GCAACATGAATGACCTGGTGT	0.537																																						ENST00000567960.1																			2	Substitution - coding silent(2)	p.N415N(2)	prostate(1)|kidney(1)																																																0							g.chr16:90162513T>C			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90162513T>C						TUBB8P7_ENST00000564451.1_RNA								0	1249	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.537	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		5	153	0	0	0	1	0	5	153				
REV3L	5980	broad.mit.edu	37	6	111710363	111710363	+	Nonsense_Mutation	SNP	G	G	A			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr6:111710363G>A	ENST00000358835.3	-	8	1262	c.808C>T	c.(808-810)Caa>Taa	p.Q270*	REV3L_ENST00000435970.1_Nonsense_Mutation_p.Q192*|REV3L_ENST00000368805.1_Nonsense_Mutation_p.Q270*|REV3L_ENST00000368802.3_Nonsense_Mutation_p.Q270*			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	270					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		CTTCGCCGTTGCTTTTCATCT	0.373								DNA polymerases (catalytic subunits)																														ENST00000435970.1																			0				NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88						c.(574-576)Caa>Taa	DNA polymerases (catalytic subunits)	REV3-like, polymerase (DNA directed), zeta, catalytic subunit							234.0	200.0	212.0					6																	111710363		2203	4300	6503	SO:0001587	stop_gained	5980				DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding	g.chr6:111710363G>A	AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"""DNA polymerases"""	9968	protein-coding gene	gene with protein product	"""polymerase, DNA, zeta"""	602776	"""REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta"", ""REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"""			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.808C>T	6.37:g.111710363G>A	ENSP00000351697:p.Gln270*					REV3L_ENST00000368802.3_Nonsense_Mutation_p.Q270*|REV3L_ENST00000368805.1_Nonsense_Mutation_p.Q270*|REV3L_ENST00000358835.3_Nonsense_Mutation_p.Q270*	p.Q192*			O60673	DPOLZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)	9	1390	-		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)	270					O43214|Q5TC33	Nonsense_Mutation	SNP	ENST00000358835.3	37	c.574C>T	CCDS5091.2	.	.	.	.	.	.	.	.	.	.	G	41	9.156865	0.99084	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970	.	.	.	5.48	5.48	0.80851	.	0.166576	0.53938	D	0.000045	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	-20.3553	19.7081	0.96082	0.0:0.0:1.0:0.0	.	.	.	.	X	270;270;270;192	.	ENSP00000351697:Q270X	Q	-	1	0	REV3L	111817056	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.684000	0.91242	2.718000	0.92993	0.655000	0.94253	CAA		0.373	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912		75	152	0	0	0	1	0	75	152				
SLCO1B1	10599	broad.mit.edu	37	12	21353502	21353502	+	Missense_Mutation	SNP	T	T	G			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr12:21353502T>G	ENST00000256958.2	+	9	1127	c.1031T>G	c.(1030-1032)tTg>tGg	p.L344W		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	344					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Acetylcysteine(DB06151)|Aminohippurate(DB00345)|Atorvastatin(DB01076)|Axitinib(DB06626)|Benzylpenicillin(DB01053)|Bezafibrate(DB01393)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Eltrombopag(DB06210)|Estradiol(DB00783)|Estrone(DB00655)|Ezetimibe(DB00973)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Gemfibrozil(DB01241)|Indinavir(DB00224)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Olmesartan(DB00275)|Ouabain(DB01092)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Penicillamine(DB00859)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Quinidine(DB00908)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sumatriptan(DB00669)|Valsartan(DB00177)|Verapamil(DB00661)	TTTGTGCTTTTGACGTTGTTA	0.328																																						ENST00000256958.2																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70						c.(1030-1032)tTg>tGg		solute carrier organic anion transporter family, member 1B1	Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)						114.0	104.0	107.0					12																	21353502		2203	4299	6502	SO:0001583	missense	10599				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity	g.chr12:21353502T>G		CCDS8685.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000134538	ENSG00000134538		"""Solute carriers"""	10959	protein-coding gene	gene with protein product		604843	"""solute carrier family 21 (organic anion transporter), member 6"""	SLC21A6		10358072	Standard	NM_006446		Approved	OATP-C, LST-1, OATP1B1	uc001req.4	Q9Y6L6	OTTHUMG00000169047	ENST00000256958.2:c.1031T>G	12.37:g.21353502T>G	ENSP00000256958:p.Leu344Trp						p.L344W	NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN			9	1127	+			344					B2R7G2|Q29R64|Q9NQ37|Q9UBF3|Q9UH89	Missense_Mutation	SNP	ENST00000256958.2	37	c.1031T>G	CCDS8685.1	.	.	.	.	.	.	.	.	.	.	T	10.88	1.475737	0.26511	.	.	ENSG00000134538	ENST00000256958	T	0.60920	0.15	3.34	-2.4	0.06583	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	1.801060	0.02752	N	0.117568	T	0.67163	0.2864	M	0.67953	2.075	0.09310	N	1	D	0.62365	0.991	P	0.61275	0.886	T	0.55933	-0.8062	10	0.37606	T	0.19	.	4.5085	0.11899	0.0:0.3341:0.1704:0.4955	.	344	Q9Y6L6	SO1B1_HUMAN	W	344	ENSP00000256958:L344W	ENSP00000256958:L344W	L	+	2	0	SLCO1B1	21244769	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-0.403000	0.07214	-0.214000	0.10078	0.402000	0.26972	TTG		0.328	SLCO1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402070.1	NM_006446		45	47	0	0	0	1	0	45	47				
MAMDC2	256691	broad.mit.edu	37	9	72723223	72723223	+	Missense_Mutation	SNP	G	G	A	rs534058708		TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr9:72723223G>A	ENST00000377182.4	+	3	862	c.245G>A	c.(244-246)cGt>cAt	p.R82H	MAMDC2-AS1_ENST00000591368.1_RNA|MAMDC2-AS1_ENST00000414515.3_RNA	NM_153267.4	NP_694999.3	Q7Z304	MAMC2_HUMAN	MAM domain containing 2	82	MAM 1. {ECO:0000255|PROSITE- ProRule:PRU00128}.				peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)	endoplasmic reticulum (GO:0005783)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	glycosaminoglycan binding (GO:0005539)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						AGCTGCCTCCGTTTGGTCTAC	0.493																																						ENST00000377182.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						c.(244-246)cGt>cAt		MAM domain containing 2							104.0	97.0	99.0					9																	72723223		2203	4300	6503	SO:0001583	missense	256691					endoplasmic reticulum|membrane		g.chr9:72723223G>A	BC040299	CCDS6631.1	9q21.2	2008-02-05			ENSG00000165072	ENSG00000165072			23673	protein-coding gene	gene with protein product		612879					Standard	NM_153267		Approved	MGC21981	uc004ahm.2	Q7Z304	OTTHUMG00000019990	ENST00000377182.4:c.245G>A	9.37:g.72723223G>A	ENSP00000366387:p.Arg82His					MAMDC2-AS1_ENST00000591368.1_RNA|MAMDC2-AS1_ENST00000414515.3_RNA	p.R82H	NM_153267.4	NP_694999.3	Q7Z304	MAMC2_HUMAN			3	862	+			82			MAM 1.		Q5VW47|Q8WX43|Q96BM4	Missense_Mutation	SNP	ENST00000377182.4	37	c.245G>A	CCDS6631.1	.	.	.	.	.	.	.	.	.	.	G	35	5.457744	0.96240	.	.	ENSG00000165072	ENST00000377182	T	0.02421	4.3	5.93	5.93	0.95920	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.000000	0.85682	D	0.000000	T	0.19846	0.0477	M	0.84433	2.695	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.00097	-1.2072	10	0.45353	T	0.12	-25.8512	20.3324	0.98724	0.0:0.0:1.0:0.0	.	82	Q7Z304	MAMC2_HUMAN	H	82	ENSP00000366387:R82H	ENSP00000366387:R82H	R	+	2	0	MAMDC2	71913043	1.000000	0.71417	0.937000	0.37676	0.987000	0.75469	9.027000	0.93706	2.799000	0.96334	0.650000	0.86243	CGT		0.493	MAMDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052600.1	NM_153267		9	59	0	0	0	1	0	9	59				
NEK1	4750	broad.mit.edu	37	4	170428869	170428869	+	Silent	SNP	C	C	A			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr4:170428869C>A	ENST00000439128.2	-	20	2464	c.1824G>T	c.(1822-1824)ctG>ctT	p.L608L	NEK1_ENST00000511633.1_Silent_p.L592L|NEK1_ENST00000512193.1_Silent_p.L539L|NEK1_ENST00000510533.1_Silent_p.L564L|NEK1_ENST00000507142.1_Silent_p.L636L	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	608					cellular response to DNA damage stimulus (GO:0006974)|cilium assembly (GO:0042384)|mitotic nuclear division (GO:0007067)|response to ionizing radiation (GO:0010212)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		TCTATACCTTCAGTGATTCGA	0.338																																						ENST00000439128.2																			0				NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45						c.(1822-1824)ctG>ctT		NIMA-related kinase 1							120.0	111.0	114.0					4																	170428869		1832	4090	5922	SO:0001819	synonymous_variant	4750				cell division|cilium assembly|mitosis	nucleus|pericentriolar material	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr4:170428869C>A	AB067488	CCDS47162.1, CCDS56348.1, CCDS56349.1, CCDS56350.1, CCDS56351.1	4q32.3	2012-11-15	2012-11-15		ENSG00000137601	ENSG00000137601			7744	protein-coding gene	gene with protein product		604588	"""NIMA (never in mitosis gene a)-related kinase 1"""			1382974, 8274451	Standard	NM_012224		Approved	NY-REN-55, KIAA1901	uc003isd.2	Q96PY6	OTTHUMG00000160963	ENST00000439128.2:c.1824G>T	4.37:g.170428869C>A						NEK1_ENST00000511633.1_Silent_p.L592L|NEK1_ENST00000507142.1_Silent_p.L636L|NEK1_ENST00000512193.1_Silent_p.L539L|NEK1_ENST00000510533.1_Silent_p.L564L	p.L608L	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)	20	2464	-		Prostate(90;0.00601)|Renal(120;0.0183)	608					G5E9Z3|Q05DG5|Q14CB7|Q5H9T1|Q6PIB8|Q96SS2|Q9H6P7|Q9Y594	Silent	SNP	ENST00000439128.2	37	c.1824G>T	CCDS47162.1																																																																																				0.338	NEK1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000363157.3			10	32	1	0	5.16669e-11	1	5.43393e-11	10	32				
CALM3	808	broad.mit.edu	37	19	47111535	47111535	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr19:47111535C>T	ENST00000291295.9	+	3	315	c.116C>T	c.(115-117)tCc>tTc	p.S39F	CALM3_ENST00000594523.1_Missense_Mutation_p.S3F|CALM3_ENST00000391918.2_Missense_Mutation_p.S3F|CTB-12A17.3_ENST00000597609.1_RNA|CALM3_ENST00000597743.1_Missense_Mutation_p.S39F|CALM3_ENST00000596362.1_Missense_Mutation_p.S39F|CALM3_ENST00000477244.1_3'UTR|CALM3_ENST00000599839.1_Missense_Mutation_p.S3F|CALM3_ENST00000598871.1_Missense_Mutation_p.S3F	NM_005184.2	NP_005175.2	P62158	CALM_HUMAN	calmodulin 3 (phosphorylase kinase, delta)	39	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|detection of calcium ion (GO:0005513)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nitric oxide metabolic process (GO:0046209)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cyclic nucleotide metabolic process (GO:0030801)|positive regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051343)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|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 cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of cytokinesis (GO:0032465)|regulation of heart rate (GO:0002027)|regulation of high voltage-gated calcium channel activity (GO:1901841)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|response to corticosterone (GO:0051412)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)|synaptic transmission (GO:0007268)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcomere (GO:0030017)|spindle microtubule (GO:0005876)|spindle pole (GO:0000922)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|N-terminal myristoylation domain binding (GO:0031997)|nitric-oxide synthase regulator activity (GO:0030235)|phospholipase binding (GO:0043274)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|protein phosphatase activator activity (GO:0072542)|protein serine/threonine kinase activator activity (GO:0043539)|thioesterase binding (GO:0031996)|titin binding (GO:0031432)			breast(1)|cervix(2)|endometrium(1)|lung(1)|ovary(1)	6		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000683)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0341)	Aprindine(DB01429)|Bepridil(DB01244)|Chlorpromazine(DB00477)|Cinchocaine(DB00527)|Felodipine(DB01023)|Flunarizine(DB04841)|Fluphenazine(DB00623)|Isoflurane(DB00753)|Loperamide(DB00836)|Melatonin(DB01065)|Nicardipine(DB00622)|Nifedipine(DB01115)|Perphenazine(DB00850)|Phenoxybenzamine(DB00925)|Pimozide(DB01100)|Promethazine(DB01069)|Trifluoperazine(DB00831)	GTGATGAGATCCCTGGGACAG	0.577																																						ENST00000291295.9																			0				breast(1)|cervix(2)|endometrium(1)|lung(1)|ovary(1)	6						c.(115-117)tCc>tTc		calmodulin 3 (phosphorylase kinase, delta)	Aprindine(DB01429)|Bepridil(DB01244)|Dibucaine(DB00527)|Felodipine(DB01023)|Flunarizine(DB04841)|Fluphenazine(DB00623)|Isoflurane(DB00753)|Loperamide(DB00836)|Miconazole(DB01110)|Perphenazine(DB00850)|Phenoxybenzamine(DB00925)|Pimozide(DB01100)|Promethazine(DB01069)						105.0	88.0	93.0					19																	47111535		2203	4300	6503	SO:0001583	missense	808				activation of phospholipase C activity|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen catabolic process|muscle contraction|negative regulation of ryanodine-sensitive calcium-release channel activity|nerve growth factor receptor signaling pathway|nitric oxide metabolic process|platelet activation|platelet degranulation|positive regulation of ryanodine-sensitive calcium-release channel activity|regulation of cytokinesis|regulation of nitric-oxide synthase activity|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to calcium ion|synaptic transmission	centrosome|cytosol|extracellular region|nucleoplasm|plasma membrane|spindle microtubule|spindle pole	calcium ion binding|N-terminal myristoylation domain binding|phospholipase binding|protein domain specific binding|thioesterase binding|titin binding	g.chr19:47111535C>T		CCDS33061.1	19q13.2-q13.3	2013-02-25			ENSG00000160014	ENSG00000160014		"""EF-hand domain containing"", ""Endogenous ligands"""	1449	protein-coding gene	gene with protein product	"""prepro-calmodulin 3"""	114183					Standard	NM_005184		Approved	PHKD	uc002pew.3	P62158	OTTHUMG00000133517	ENST00000291295.9:c.116C>T	19.37:g.47111535C>T	ENSP00000291295:p.Ser39Phe					CALM3_ENST00000599839.1_Missense_Mutation_p.S3F|CALM3_ENST00000598871.1_Missense_Mutation_p.S3F|CALM3_ENST00000596362.1_Missense_Mutation_p.S39F|CALM3_ENST00000594523.1_Missense_Mutation_p.S3F|CALM3_ENST00000597743.1_Missense_Mutation_p.S39F|CALM3_ENST00000477244.1_3'UTR|CALM3_ENST00000391918.2_Missense_Mutation_p.S3F	p.S39F	NM_005184.2	NP_005175.2	P62158	CALM_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000683)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0341)	3	315	+		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	39			EF-hand 1.		P02593|P70667|P99014|Q13942|Q53S29|Q61379|Q61380|Q96HK3	Missense_Mutation	SNP	ENST00000291295.9	37	c.116C>T	CCDS33061.1	.	.	.	.	.	.	.	.	.	.	C	16.06	3.017049	0.54576	.	.	ENSG00000160014	ENST00000291295;ENST00000391918	D	0.84442	-1.85	5.18	5.18	0.71444	.	0.000000	0.53938	D	0.000054	D	0.87752	0.6256	L	0.45698	1.435	0.80722	D	1	.	.	.	.	.	.	D	0.88694	0.3211	8	0.87932	D	0	-30.3693	16.2303	0.82332	0.0:1.0:0.0:0.0	.	.	.	.	F	39	ENSP00000291295:S39F	ENSP00000291295:S39F	S	+	2	0	CALM3	51803375	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	7.651000	0.83577	2.688000	0.91661	0.655000	0.94253	TCC		0.577	CALM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257483.2			3	26	0	0	0	1	0	3	26				
DBF4	10926	broad.mit.edu	37	7	87530171	87530171	+	Missense_Mutation	SNP	A	A	G			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr7:87530171A>G	ENST00000265728.1	+	10	1406	c.902A>G	c.(901-903)cAg>cGg	p.Q301R		NM_006716.3	NP_006707.1	Q9UBU7	DBF4A_HUMAN	DBF4 zinc finger	301					DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|positive regulation of catalytic activity (GO:0043085)	nucleoplasm (GO:0005654)	enzyme activator activity (GO:0008047)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3)	28	Esophageal squamous(14;0.00202)	Breast(660;0.0334)				TGTTGCTTGCAGAAATATGAA	0.333																																						ENST00000265728.1																			0				endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3)	28						c.(901-903)cAg>cGg		DBF4 homolog (S. cerevisiae)							127.0	144.0	138.0					7																	87530171		2203	4300	6503	SO:0001583	missense	10926				cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding	g.chr7:87530171A>G	AF160876	CCDS5611.1	7q21.3	2014-02-17	2014-02-17		ENSG00000006634	ENSG00000006634		"""Zinc fingers, DBF-type"""	17364	protein-coding gene	gene with protein product	"""activator of S phase kinase"", ""chiffon homolog (Drosophila)"", ""zinc finger, DBF-type containing 1"", ""DBF4 zinc finger A"""	604281	"""DBF4 homolog (S. cerevisiae)"""			10373557, 10517317	Standard	NM_006716		Approved	ASK, chif, ZDBF1, DBF4A	uc003ujf.1	Q9UBU7	OTTHUMG00000131034	ENST00000265728.1:c.902A>G	7.37:g.87530171A>G	ENSP00000265728:p.Gln301Arg						p.Q301R	NM_006716.3	NP_006707.1	Q9UBU7	DBF4A_HUMAN			10	1406	+	Esophageal squamous(14;0.00202)	Breast(660;0.0334)	301					A4D1D8|A8K954|O75226|Q75MS6|Q75N01|Q9Y2M6	Missense_Mutation	SNP	ENST00000265728.1	37	c.902A>G	CCDS5611.1	.	.	.	.	.	.	.	.	.	.	A	13.09	2.132787	0.37630	.	.	ENSG00000006634	ENST00000265728	T	0.31510	1.49	4.93	3.75	0.43078	Zinc finger, DBF-type (3);	0.522243	0.19534	N	0.111970	T	0.27419	0.0673	L	0.50333	1.59	0.26043	N	0.981586	P;B	0.35468	0.503;0.163	B;B	0.36244	0.22;0.124	T	0.10086	-1.0645	10	0.32370	T	0.25	-0.07	9.522	0.39140	0.8425:0.0:0.0:0.1575	.	77;301	B7Z8C6;Q9UBU7	.;DBF4A_HUMAN	R	301	ENSP00000265728:Q301R	ENSP00000265728:Q301R	Q	+	2	0	DBF4	87368107	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.077000	0.41557	0.943000	0.37553	-0.468000	0.05107	CAG		0.333	DBF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253678.1	NM_006716		4	138	0	0	0	1	0	4	138				
MRGBP	55257	broad.mit.edu	37	20	61430826	61430826	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr20:61430826G>A	ENST00000370487.3	+	5	517	c.446G>A	c.(445-447)aGt>aAt	p.S149N	OGFR-AS1_ENST00000431361.1_RNA	NM_018270.4	NP_060740.1	Q9NV56	MRGBP_HUMAN	MRG/MORF4L binding protein	149					chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	H4/H2A histone acetyltransferase complex (GO:0043189)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											TCTTCAGGGAGTTTGGGGAAA	0.428																																						ENST00000370487.3																			0											c.(445-447)aGt>aAt		MRG/MORF4L binding protein							71.0	82.0	78.0					20																	61430826		2203	4300	6503	SO:0001583	missense	55257							g.chr20:61430826G>A	AK001776	CCDS13503.1	20q13.33	2012-10-29	2012-10-29	2012-10-29	ENSG00000101189	ENSG00000101189			15866	protein-coding gene	gene with protein product		611157	"""chromosome 20 open reading frame 20"""	C20orf20		12963728	Standard	NM_018270		Approved	FLJ10914, MRG15BP, Eaf7	uc002ydi.3	Q9NV56	OTTHUMG00000032940	ENST00000370487.3:c.446G>A	20.37:g.61430826G>A	ENSP00000359518:p.Ser149Asn						p.S149N	NM_018270.4	NP_060740.1					5	517	+								A8C4L5	Missense_Mutation	SNP	ENST00000370487.3	37	c.446G>A	CCDS13503.1	.	.	.	.	.	.	.	.	.	.	G	9.654	1.142429	0.21205	.	.	ENSG00000101189	ENST00000370487	.	.	.	5.26	4.21	0.49690	.	0.528426	0.22978	N	0.053357	T	0.29223	0.0727	N	0.12182	0.205	0.46564	D	0.999107	B	0.09022	0.002	B	0.09377	0.004	T	0.12344	-1.0551	9	0.20519	T	0.43	-11.3841	7.0683	0.25164	0.2705:0.0:0.7295:0.0	.	149	Q9NV56	MRGBP_HUMAN	N	149	.	ENSP00000359518:S149N	S	+	2	0	C20orf20	60901271	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.166000	0.50785	2.441000	0.82636	0.655000	0.94253	AGT		0.428	MRGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080080.1	NM_018270		42	40	0	0	0	1	0	42	40				
FNBP4	23360	broad.mit.edu	37	11	47744591	47744591	+	Silent	SNP	A	A	T			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr11:47744591A>T	ENST00000263773.5	-	15	2754	c.2742T>A	c.(2740-2742)ccT>ccA	p.P914P		NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	914	Pro-rich.					nucleus (GO:0005634)		p.P914P(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						gtggtggtggaggaggaggag	0.463																																						ENST00000263773.5																			1	Substitution - coding silent(1)	p.P914P(1)	endometrium(1)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						c.(2740-2742)ccT>ccA		formin binding protein 4							15.0	15.0	15.0					11																	47744591		1997	4159	6156	SO:0001819	synonymous_variant	23360							g.chr11:47744591A>T	BC037404	CCDS41644.1	11q12.1	2008-02-05			ENSG00000109920	ENSG00000109920			19752	protein-coding gene	gene with protein product		615265				10231032	Standard	NM_015308		Approved	KIAA1014	uc009ylv.3	Q8N3X1	OTTHUMG00000166533	ENST00000263773.5:c.2742T>A	11.37:g.47744591A>T							p.P914P	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN			15	2754	-			914			Pro-rich.		Q9H985|Q9NT81|Q9Y2L7	Silent	SNP	ENST00000263773.5	37	c.2742T>A	CCDS41644.1																																																																																				0.463	FNBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390237.3			3	13	0	0	0	1	0	3	13				
SNHG14	104472715	broad.mit.edu	37	15	25327992	25327992	+	RNA	SNP	G	G	A	rs537419025		TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr15:25327992G>A	ENST00000546682.1	+	0	188				SNORD116-17_ENST00000383929.1_RNA|SNORD116-14_ENST00000383894.1_RNA|SNORD116-18_ENST00000383961.1_RNA|SNHG14_ENST00000549804.2_RNA|SNHG14_ENST00000553108.1_RNA|SNORD116-15_ENST00000384445.1_RNA|SNORD116-16_ENST00000384533.1_RNA	NR_003361.1				small nucleolar RNA host gene 14 (non-protein coding)																		CGTCATCCTCGTCGAACTGAG	0.473													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20575	0.0		0.0	False		,,,				2504	0.0					ENST00000546682.1																			0																				264.0	220.0	234.0					15																	25327992		876	1991	2867			0							g.chr15:25327992G>A			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25327992G>A						SNORD116-16_ENST00000384533.1_RNA|SNHG14_ENST00000549804.2_RNA		NR_003361.1						0	188	+									RNA	SNP	ENST00000546682.1	37																																																																																						0.473	SNHG14-022	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000408281.1			6	450	0	0	0	1	0	6	450				
CDKN2A	1029	broad.mit.edu	37	9	21994137	21994137	+	Splice_Site	SNP	C	C	T			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr9:21994137C>T	ENST00000579755.1	-	1	486		c.e1+1		CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000530628.2_Splice_Site|CDKN2B-AS1_ENST00000580576.1_RNA|CDKN2B-AS1_ENST00000584816.1_RNA|CDKN2B-AS1_ENST00000584637.1_RNA|CDKN2B-AS1_ENST00000585267.1_RNA|CDKN2B-AS1_ENST00000583719.1_RNA|CDKN2B-AS1_ENST00000580467.1_RNA|CDKN2B-AS1_ENST00000577551.1_RNA|CDKN2A_ENST00000470819.2_Intron|CDKN2B-AS1_ENST00000582072.1_RNA|CDKN2B-AS1_ENST00000428597.1_RNA|RP11-149I2.4_ENST00000578935.1_RNA|CDKN2B-AS1_ENST00000582301.1_RNA|CDKN2A_ENST00000361570.3_Splice_Site|CDKN2B-AS1_ENST00000468603.2_RNA|CDKN2B-AS1_ENST00000584020.1_RNA|CDKN2B-AS1_ENST00000581051.1_RNA|CDKN2B-AS1_ENST00000455933.2_RNA|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2B-AS1_ENST00000584351.1_RNA			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A						cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(198)|p.?(2)|p.0(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GCCTTTCCTACCTGGTCTTCT	0.602		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000579755.1		17																	201	Whole gene deletion(199)|Unknown(2)	p.0?(198)|p.?(2)|p.0(1)	haematopoietic_and_lymphoid_tissue(34)|lung(33)|central_nervous_system(31)|skin(16)|kidney(14)|oesophagus(11)|bone(10)|pancreas(10)|urinary_tract(7)|breast(6)|soft_tissue(5)|thyroid(4)|pleura(4)|large_intestine(3)|stomach(3)|liver(3)|ovary(3)|upper_aerodigestive_tract(1)|vulva(1)|biliary_tract(1)|autonomic_ganglia(1)	NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199	GRCh37	CS052061	p14arf	S		c.e1+1		cyclin-dependent kinase inhibitor 2A							13.0	15.0	14.0					9																	21994137		2171	4257	6428	SO:0001630	splice_region_variant	1029				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	g.chr9:21994137C>T	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000579755.1:c.193+1G>A	9.37:g.21994137C>T		HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				CDKN2A_ENST00000470819.2_Intron|CDKN2A_ENST00000361570.3_Splice_Site|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000530628.2_Splice_Site|CDKN2A_ENST00000494262.1_Intron|RP11-145E5.5_ENST00000404796.2_Intron				P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	1	486	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)						A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Splice_Site	SNP	ENST00000579755.1	37		CCDS6511.2	.	.	.	.	.	.	.	.	.	.	C	18.56	3.651409	0.67472	.	.	ENSG00000147889	ENST00000361570;ENST00000530628	.	.	.	4.23	4.23	0.50019	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.2937	0.54833	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CDKN2A	21984137	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.177000	0.50871	2.367000	0.80283	0.555000	0.69702	.		0.602	CDKN2A-004	KNOWN	NMD_exception|upstream_ATG|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051918.5	NM_000077	Intron	6	15	0	0	0	1	0	6	15				
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr22:29091841G>A	ENST00000405598.1	-	12	1307	c.1116C>T	c.(1114-1116)tcC>tcT	p.S372S	CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000544772.1_Silent_p.S151S|CHEK2_ENST00000382578.1_Silent_p.S281S			O96017	CHK2_HUMAN	checkpoint kinase 2	372	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														ENST00000544772.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			8	Substitution - coding silent(8)	p.S372S(8)	kidney(4)|prostate(2)|endometrium(1)|central_nervous_system(1)	central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(451-453)tcC>tcT	Direct reversal of damage;Other conserved DNA damage response genes	checkpoint kinase 2							43.0	44.0	44.0					22																	29091841		2203	4300	6503	SO:0001819	synonymous_variant	11200				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29091841G>A	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1116C>T	22.37:g.29091841G>A						CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000382580.2_Silent_p.S415S	p.S151S	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN			12	1889	-			372			FHA.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Silent	SNP	ENST00000405598.1	37	c.453C>T	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	G	5.792	0.330417	0.10956	.	.	ENSG00000183765	ENST00000434810	.	.	.	5.89	-2.11	0.07187	.	.	.	.	.	T	0.42154	0.1190	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33854	-0.9852	4	.	.	.	-7.6356	3.2532	0.06822	0.327:0.1103:0.4613:0.1014	.	.	.	.	L	116	.	.	P	-	2	0	CHEK2	27421841	0.997000	0.39634	0.996000	0.52242	0.470000	0.32858	0.318000	0.19504	-0.075000	0.12798	-0.907000	0.02831	CCA		0.413	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		4	120	0	0	0	1	0	4	120				
SMC1A	8243	broad.mit.edu	37	X	53440219	53440219	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chrX:53440219G>A	ENST00000322213.4	-	4	705	c.578C>T	c.(577-579)gCg>gTg	p.A193V	SMC1A_ENST00000375340.6_Intron	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	193					DNA repair (GO:0006281)|gene expression (GO:0010467)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid cohesion (GO:0007064)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA endoreduplication (GO:0032876)|response to radiation (GO:0009314)|RNA splicing (GO:0008380)|signal transduction in response to DNA damage (GO:0042770)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin core heterodimer (GO:0008280)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|meiotic cohesin complex (GO:0030893)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						GCGTTCAGCCGCAATATTTTT	0.512																																						ENST00000322213.4																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						c.(577-579)gCg>gTg		structural maintenance of chromosomes 1A							218.0	191.0	200.0					X																	53440219		2203	4300	6503	SO:0001583	missense	8243				cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity	g.chrX:53440219G>A	S78271	CCDS14352.1, CCDS75985.1	Xp11.22-p11.21	2014-09-17	2006-07-06	2006-07-06	ENSG00000072501	ENSG00000072501		"""Structural maintenance of chromosomes proteins"""	11111	protein-coding gene	gene with protein product		300040	"""SMC1 (structural maintenance of chromosomes 1, yeast)-like 1"", ""SMC1 structural maintenance of chromosomes 1-like 1 (yeast)"""	SMC1L1		7757074	Standard	NM_006306		Approved	DXS423E, KIAA0178, SB1.8, Smcb	uc004dsg.3	Q14683	OTTHUMG00000021614	ENST00000322213.4:c.578C>T	X.37:g.53440219G>A	ENSP00000323421:p.Ala193Val					SMC1A_ENST00000463684.1_5'UTR|SMC1A_ENST00000375340.6_Intron	p.A193V	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN			4	705	-			193					O14995|Q16351|Q2M228	Missense_Mutation	SNP	ENST00000322213.4	37	c.578C>T	CCDS14352.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.47|18.47	3.630260|3.630260	0.67015|0.67015	.|.	.|.	ENSG00000072501|ENSG00000072501	ENST00000322213;ENST00000340213|ENST00000428014	T|.	0.76968|.	-1.06|.	4.52|4.52	4.52|4.52	0.55395|0.55395	RecF/RecN/SMC (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.57710|0.57710	0.2072|0.2072	L|L	0.37750|0.37750	1.13|1.13	0.80722|0.80722	D|D	1|1	D;D;D|.	0.65815|.	0.971;0.973;0.995|.	P;P;P|.	0.53722|.	0.459;0.63;0.733|.	T|T	0.55366|0.55366	-0.8152|-0.8152	10|5	0.52906|.	T|.	0.07|.	.|.	15.5515|15.5515	0.76155|0.76155	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	171;193;193|.	Q6MZR8;A8K7A6;Q14683|.	.;.;SMC1A_HUMAN|.	V|W	193;192|198	ENSP00000323421:A193V|.	ENSP00000323421:A193V|.	A|R	-|-	2|1	0|2	SMC1A|SMC1A	53456944|53456944	1.000000|1.000000	0.71417|0.71417	0.981000|0.981000	0.43875|0.43875	0.838000|0.838000	0.47535|0.47535	7.857000|7.857000	0.86963|0.86963	1.998000|1.998000	0.58463|0.58463	0.436000|0.436000	0.28706|0.28706	GCG|CGG		0.512	SMC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056756.2	NM_006306		4	102	0	0	0	1	0	4	102				
SRRM2	23524	broad.mit.edu	37	16	2817164	2817164	+	Missense_Mutation	SNP	C	C	A			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr16:2817164C>A	ENST00000301740.8	+	11	7184	c.6635C>A	c.(6634-6636)cCa>cAa	p.P2212Q	AC092117.2_ENST00000581119.1_RNA	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2212	Ala-rich.|Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						TCCCAGGTTCCAGCCCCGGTG	0.617																																						ENST00000301740.8																			0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						c.(6634-6636)cCa>cAa		serine/arginine repetitive matrix 2							63.0	70.0	68.0					16																	2817164		2198	4299	6497	SO:0001583	missense	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2817164C>A	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.6635C>A	16.37:g.2817164C>A	ENSP00000301740:p.Pro2212Gln						p.P2212Q	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN			11	7184	+			2212			Ala-rich.|Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	c.6635C>A	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	C	13.05	2.121079	0.37436	.	.	ENSG00000167978	ENST00000301740;ENST00000544933	T	0.77877	-1.13	5.56	5.56	0.83823	.	0.000000	0.64402	D	0.000006	T	0.80243	0.4587	N	0.19112	0.55	0.36575	D	0.873222	D	0.71674	0.998	D	0.78314	0.991	D	0.84984	0.0890	10	0.72032	D	0.01	-13.0422	15.0149	0.71576	0.0:1.0:0.0:0.0	.	2212	Q9UQ35	SRRM2_HUMAN	Q	2212;1464	ENSP00000301740:P2212Q	ENSP00000301740:P2212Q	P	+	2	0	SRRM2	2757165	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.305000	0.59110	2.631000	0.89168	0.591000	0.81541	CCA		0.617	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			4	84	1	0	0.184627	1	0.184627	4	84				
CIC	23152	broad.mit.edu	37	19	42791757	42791757	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr19:42791757C>T	ENST00000575354.2	+	5	683	c.643C>T	c.(643-645)Cgg>Tgg	p.R215W	CIC_ENST00000572681.2_Missense_Mutation_p.R1124W|CIC_ENST00000160740.3_Missense_Mutation_p.R215W	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	215					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R215W(4)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CAAGCGGCACCGGGCCCTGGT	0.612			"""Mis, F, S"""		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"""Mis, F, S"""	capicua homolog			O			oligodendroglioma		4	Substitution - Missense(4)	p.R215W(4)	central_nervous_system(4)	autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82						c.(3370-3372)Cgg>Tgg		capicua transcriptional repressor							64.0	64.0	64.0					19																	42791757		2203	4300	6503	SO:0001583	missense	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42791757C>T	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.643C>T	19.37:g.42791757C>T	ENSP00000458663:p.Arg215Trp					CIC_ENST00000160740.3_Missense_Mutation_p.R215W|CIC_ENST00000575354.2_Missense_Mutation_p.R215W	p.R1124W			Q96RK0	CIC_HUMAN			6	3438	+		Prostate(69;0.00682)	215			Pro-rich.		Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	c.3370C>T	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	C	16.71	3.199892	0.58126	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.39	4.39	0.52855	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	.	.	.	.	T	0.82033	0.4949	M	0.93241	3.395	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.85234	0.1034	8	0.87932	D	0	-14.3323	9.6958	0.40156	0.2069:0.7931:0.0:0.0	.	215	Q96RK0	CIC_HUMAN	W	215	.	ENSP00000160740:R215W	R	+	1	2	CIC	47483597	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.293000	0.59037	2.284000	0.76573	0.555000	0.69702	CGG		0.612	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			40	24	0	0	0	1	0	40	24				
SOS2	6655	broad.mit.edu	37	14	50626681	50626681	+	Missense_Mutation	SNP	A	A	T			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr14:50626681A>T	ENST00000216373.5	-	10	1594	c.1320T>A	c.(1318-1320)aaT>aaA	p.N440K	SOS2_ENST00000543680.1_Missense_Mutation_p.N407K|SOS2_ENST00000555794.1_5'UTR	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	440					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	DNA binding (GO:0003677)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					TAATGAATTCATTACAACACT	0.363																																						ENST00000216373.5																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39						c.(1318-1320)aaT>aaA		son of sevenless homolog 2 (Drosophila)							201.0	186.0	191.0					14																	50626681		2203	4300	6503	SO:0001583	missense	6655				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr14:50626681A>T	L13858	CCDS9697.1	14q21	2013-01-10	2001-12-04		ENSG00000100485	ENSG00000100485		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11188	protein-coding gene	gene with protein product		601247	"""son of sevenless (Drosophilia) homolog 2"""			8276400	Standard	NM_006939		Approved		uc001wxs.4	Q07890	OTTHUMG00000140292	ENST00000216373.5:c.1320T>A	14.37:g.50626681A>T	ENSP00000216373:p.Asn440Lys					SOS2_ENST00000555794.1_5'UTR|SOS2_ENST00000543680.1_Missense_Mutation_p.N407K	p.N440K	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN			10	1594	-	all_epithelial(31;0.000822)|Breast(41;0.0065)		440					B7ZKT6|D3DSB4|Q15503|Q17RN1	Missense_Mutation	SNP	ENST00000216373.5	37	c.1320T>A	CCDS9697.1	.	.	.	.	.	.	.	.	.	.	A	14.91	2.675547	0.47781	.	.	ENSG00000100485	ENST00000216373;ENST00000543680	D;D	0.88046	-2.33;-2.33	5.56	3.22	0.36961	Pleckstrin homology-type (1);	0.039164	0.85682	D	0.000000	D	0.85478	0.5706	M	0.65975	2.015	0.53005	D	0.999961	B;B;B	0.33694	0.311;0.378;0.421	B;B;B	0.37451	0.24;0.25;0.169	T	0.82424	-0.0464	10	0.87932	D	0	.	9.2956	0.37813	0.7313:0.0:0.2687:0.0	.	407;470;440	B7ZKT6;Q59G32;Q07890	.;.;SOS2_HUMAN	K	440;407	ENSP00000216373:N440K;ENSP00000445328:N407K	ENSP00000216373:N440K	N	-	3	2	SOS2	49696431	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.691000	0.37721	0.409000	0.25649	0.528000	0.53228	AAT		0.363	SOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276878.2			80	113	0	0	0	1	0	80	113				
TPM4	7171	broad.mit.edu	37	19	16178536	16178536	+	Silent	SNP	C	C	T			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr19:16178536C>T	ENST00000344824.6	+	1	220	c.102C>T	c.(100-102)gaC>gaT	p.D34D	CTD-2231E14.4_ENST00000585520.1_lincRNA|TPM4_ENST00000538887.1_Silent_p.D34D	NM_001145160.1	NP_001138632.1	P67936	TPM4_HUMAN	tropomyosin 4	152					cellular component movement (GO:0006928)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|osteoblast differentiation (GO:0001649)	cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|membrane (GO:0016020)|muscle thin filament tropomyosin (GO:0005862)|podosome (GO:0002102)|stress fiber (GO:0001725)	calcium ion binding (GO:0005509)|structural constituent of muscle (GO:0008307)		TPM4/ALK(12)	breast(1)|large_intestine(3)	4						CCGCTGAGGACAAGTGCAAGC	0.632			T	ALK	ALCL																																	ENST00000538887.1				Dom	yes		19	19p13.1	7171	T	tropomyosin 4			L	ALK		ALCL	TPM4/ALK(12)	0				breast(1)|large_intestine(3)	4						c.(100-102)gaC>gaT		tropomyosin 4							75.0	73.0	74.0					19																	16178536		1568	3582	5150	SO:0001819	synonymous_variant	7171				cellular component movement|muscle filament sliding|response to oxidative stress	cytosol|muscle thin filament tropomyosin|stress fiber	actin binding|calcium ion binding|structural constituent of muscle	g.chr19:16178536C>T		CCDS12338.1, CCDS46007.1	19p13.1	2013-03-11			ENSG00000167460	ENSG00000167460		"""Tropomyosins"""	12013	protein-coding gene	gene with protein product		600317				8641132	Standard	NM_003290		Approved		uc002ndi.2	P67936	OTTHUMG00000182134	ENST00000344824.6:c.102C>T	19.37:g.16178536C>T						TPM4_ENST00000344824.6_Silent_p.D34D	p.D34D			P67936	TPM4_HUMAN			1	189	+			152					P07226|Q15659|Q5U0D9|Q9BU85|Q9H8Q3|Q9UCS1|Q9UCS2|Q9UCS3|Q9UCS4	Silent	SNP	ENST00000344824.6	37	c.102C>T	CCDS46007.1																																																																																				0.632	TPM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459672.2	NM_003290		28	43	0	0	0	1	0	28	43				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			44	62	0	0	0	1	0	44	62				
COLEC10	10584	broad.mit.edu	37	8	120079533	120079533	+	Missense_Mutation	SNP	G	G	T			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr8:120079533G>T	ENST00000332843.2	+	1	54	c.13G>T	c.(13-15)Gca>Tca	p.A5S	RP11-278I4.2_ENST00000518362.1_RNA|COLEC10_ENST00000521788.1_Intron	NM_006438.3	NP_006429.2	Q9Y6Z7	COL10_HUMAN	collectin sub-family member 10 (C-type lectin)	5						collagen trimer (GO:0005581)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)	mannose binding (GO:0005537)			endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21	all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00113)			GAATGGCTTTGCATCCTTGCT	0.423																																						ENST00000332843.2																			0				endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21						c.(13-15)Gca>Tca		collectin sub-family member 10 (C-type lectin)							95.0	90.0	92.0					8																	120079533		2203	4300	6503	SO:0001583	missense	10584					collagen|cytoplasm	mannose binding	g.chr8:120079533G>T	AB002631	CCDS6327.1	8q23-q24.1	2007-12-19				ENSG00000184374		"""Collectins"""	2220	protein-coding gene	gene with protein product		607620				10224141	Standard	NM_006438		Approved	CL-L1	uc003yoo.3	Q9Y6Z7		ENST00000332843.2:c.13G>T	8.37:g.120079533G>T	ENSP00000332723:p.Ala5Ser					COLEC10_ENST00000521788.1_Intron|RP11-278I4.2_ENST00000518362.1_RNA	p.A5S	NM_006438.3	NP_006429.2	Q9Y6Z7	COL10_HUMAN	STAD - Stomach adenocarcinoma(47;0.00113)		1	54	+	all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234)		5					Q3SYH6|Q6UW19	Missense_Mutation	SNP	ENST00000332843.2	37	c.13G>T	CCDS6327.1	.	.	.	.	.	.	.	.	.	.	G	3.657	-0.070266	0.07228	.	.	ENSG00000184374	ENST00000332843	D	0.84944	-1.92	5.42	1.3	0.21679	.	0.770492	0.12761	N	0.441383	T	0.64907	0.2641	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.49986	-0.8880	10	0.21540	T	0.41	-1.2417	3.6291	0.08124	0.4163:0.0:0.4138:0.1699	.	5	Q9Y6Z7	COL10_HUMAN	S	5	ENSP00000332723:A5S	ENSP00000332723:A5S	A	+	1	0	COLEC10	120148714	0.143000	0.22626	0.643000	0.29450	0.023000	0.10783	0.555000	0.23422	0.341000	0.23771	0.563000	0.77884	GCA		0.423	COLEC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381225.1			44	59	1	0	1.02591e-13	1	1.0979e-13	44	59				
CIC	23152	broad.mit.edu	37	19	42791715	42791715	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr19:42791715C>T	ENST00000575354.2	+	5	641	c.601C>T	c.(601-603)Cgg>Tgg	p.R201W	CIC_ENST00000572681.2_Missense_Mutation_p.R1110W|CIC_ENST00000160740.3_Missense_Mutation_p.R201W	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	201					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R201W(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GGACCACATCCGGCGGCCCAT	0.622			"""Mis, F, S"""		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"""Mis, F, S"""	capicua homolog			O			oligodendroglioma		1	Substitution - Missense(1)	p.R201W(1)	central_nervous_system(1)	autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82						c.(3328-3330)Cgg>Tgg		capicua transcriptional repressor							65.0	70.0	68.0					19																	42791715		2203	4300	6503	SO:0001583	missense	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42791715C>T	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.601C>T	19.37:g.42791715C>T	ENSP00000458663:p.Arg201Trp					CIC_ENST00000160740.3_Missense_Mutation_p.R201W|CIC_ENST00000575354.2_Missense_Mutation_p.R201W	p.R1110W			Q96RK0	CIC_HUMAN			6	3396	+		Prostate(69;0.00682)	201			Pro-rich.		Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	c.3328C>T	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	C	15.87	2.960036	0.53400	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.39	4.39	0.52855	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	.	.	.	.	D	0.85133	0.5627	M	0.92555	3.32	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.88918	0.3364	8	0.87932	D	0	-12.0024	14.5138	0.67807	0.0:1.0:0.0:0.0	.	201	Q96RK0	CIC_HUMAN	W	201	.	ENSP00000160740:R201W	R	+	1	2	CIC	47483555	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	3.466000	0.53071	2.284000	0.76573	0.555000	0.69702	CGG		0.622	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			8	55	0	0	0	1	0	8	55				
SKP2	6502	broad.mit.edu	37	5	36184025	36184025	+	3'UTR	SNP	C	C	T			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr5:36184025C>T	ENST00000274255.6	+	0	3363				SKP2_ENST00000274254.5_Missense_Mutation_p.S382F	NM_005983.3	NP_005974.2	Q13309	SKP2_HUMAN	S-phase kinase-associated protein 2, E3 ubiquitin protein ligase						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|cellular response to cell-matrix adhesion (GO:0071460)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein polyubiquitination (GO:0000209)|regulation of cell cycle (GO:0051726)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)	identical protein binding (GO:0042802)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(2)|ovary(1)	4	all_lung(31;5.63e-05)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AAACTCAAGTCCAGCCATAAG	0.353																																						ENST00000274254.5																			0				breast(1)|central_nervous_system(2)|ovary(1)	4						c.(1144-1146)tCc>tTc		S-phase kinase-associated protein 2, E3 ubiquitin protein ligase							97.0	89.0	92.0					5																	36184025		2203	4300	6503	SO:0001624	3_prime_UTR_variant	6502				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle	nucleoplasm|SCF ubiquitin ligase complex	protein binding	g.chr5:36184025C>T	U33761	CCDS3915.1, CCDS3916.1, CCDS58944.1	5p13	2012-02-23	2012-02-23		ENSG00000145604	ENSG00000145604		"""F-boxes / Leucine-rich repeats"""	10901	protein-coding gene	gene with protein product		601436	"""S-phase kinase-associated protein 2 (p45)"""			8646875	Standard	NM_005983		Approved	FBXL1, FBL1, p45	uc003jkc.2	Q13309	OTTHUMG00000131106	ENST00000274255.6:c.*1892C>T	5.37:g.36184025C>T						SKP2_ENST00000274255.6_3'UTR	p.S382F	NM_032637.3	NP_116026.1	Q13309	SKP2_HUMAN	Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		10	1419	+	all_lung(31;5.63e-05)		0					A8K5E0|B4DJT4|Q8TDZ0|Q8TDZ1|Q9BV69	Missense_Mutation	SNP	ENST00000274255.6	37	c.1145C>T	CCDS3916.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.983260	0.74474	.	.	ENSG00000145604	ENST00000274254	T	0.08720	3.06	5.0	5.0	0.66597	.	1.860390	0.02185	N	0.060823	T	0.29620	0.0739	.	.	.	0.80722	D	1	D	0.64830	0.994	P	0.62298	0.9	T	0.00174	-1.1956	9	0.56958	D	0.05	-2.3665	13.6679	0.62407	0.0:1.0:0.0:0.0	.	382	Q13309-2	.	F	382	ENSP00000274254:S382F	ENSP00000274254:S382F	S	+	2	0	SKP2	36219782	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	1.246000	0.32803	2.618000	0.88619	0.650000	0.86243	TCC		0.353	SKP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253769.2	NM_005983		5	81	0	0	0	1	0	5	81				
GLIS3	169792	broad.mit.edu	37	9	4118080	4118080	+	Silent	SNP	C	C	T			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr9:4118080C>T	ENST00000324333.10	-	3	1126	c.933G>A	c.(931-933)gcG>gcA	p.A311A	GLIS3_ENST00000381971.3_Silent_p.A466A	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	311					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		GGTGAAGGTGCGCATGGGCAT	0.736																																						ENST00000324333.10																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26						c.(931-933)gcG>gcA		GLIS family zinc finger 3							14.0	18.0	16.0					9																	4118080		2165	4221	6386	SO:0001819	synonymous_variant	169792				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding	g.chr9:4118080C>T	BC033899	CCDS6451.1, CCDS43784.1	9p24.2	2008-05-02	2004-07-16	2004-07-16	ENSG00000107249	ENSG00000107249		"""Zinc fingers, C2H2-type"""	28510	protein-coding gene	gene with protein product		610192	"""zinc finger protein 515"""	ZNF515		14500813	Standard	NM_152629		Approved	MGC33662	uc003zhx.1	Q8NEA6	OTTHUMG00000019463	ENST00000324333.10:c.933G>A	9.37:g.4118080C>T						GLIS3_ENST00000381971.3_Silent_p.A466A	p.A311A	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)	3	1126	-		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)	311					B1AL19|Q1PHK5	Silent	SNP	ENST00000324333.10	37	c.933G>A	CCDS6451.1																																																																																				0.736	GLIS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051559.1	NM_152629		4	31	0	0	0	1	0	4	31				
GGT3P	2679	broad.mit.edu	37	22	18778612	18778612	+	RNA	SNP	C	C	T	rs1055042	byFrequency	TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr22:18778612C>T	ENST00000412448.1	-	0	793							A6NGU5	GGT3_HUMAN	gamma-glutamyltransferase 3 pseudogene						glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)										GCGGCCACGGCAGCCCTGGTG	0.637																																						ENST00000412448.1																			0																																																			0							g.chr22:18778612C>T			22q11.21	2008-08-05	2008-03-10	2008-03-10	ENSG00000197421	ENSG00000197421		"""Gamma-glutamyltransferases"""	4252	pseudogene	pseudogene			"""gamma-glutamyltransferase 3"""	GGT3		8104871, 18357469	Standard	NR_003267		Approved		uc002zob.1	A6NGU5	OTTHUMG00000150161		22.37:g.18778612C>T														0	793	-									RNA	SNP	ENST00000412448.1	37																																																																																						0.637	GGT3P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341281.1	NR_003267		5	23	0	0	0	1	0	5	23				
BGN	633	broad.mit.edu	37	X	152770284	152770284	+	Silent	SNP	C	C	T			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chrX:152770284C>T	ENST00000331595.4	+	2	381	c.195C>T	c.(193-195)ttC>ttT	p.F65F	BGN_ENST00000480756.1_Intron	NM_001711.4	NP_001702.1	P21810	PGS1_HUMAN	biglycan	65	Cys-rich.				blood vessel remodeling (GO:0001974)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|small molecule metabolic process (GO:0044281)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|transport vesicle (GO:0030133)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|glycosaminoglycan binding (GO:0005539)			breast(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGTGTCCTTTCGGCTGCCACT	0.637																																						ENST00000331595.4																			0				breast(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)	16						c.(193-195)ttC>ttT		biglycan							67.0	63.0	65.0					X																	152770284		2203	4299	6502	SO:0001819	synonymous_variant	633					proteinaceous extracellular matrix|transport vesicle	extracellular matrix structural constituent	g.chrX:152770284C>T	AK092954	CCDS14721.1	Xq28	2008-02-05			ENSG00000182492	ENSG00000182492		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	1044	protein-coding gene	gene with protein product	"""biglycan proteoglycan"""	301870				1612609	Standard	NM_001711		Approved	DSPG1, SLRR1A	uc004fhr.2	P21810	OTTHUMG00000024205	ENST00000331595.4:c.195C>T	X.37:g.152770284C>T						BGN_ENST00000480756.1_Intron|BGN_ENST00000370204.1_Silent_p.F4F	p.F65F	NM_001711.4	NP_001702.1	P21810	PGS1_HUMAN			2	381	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		65			Cys-rich.		D3DWU3|P13247	Silent	SNP	ENST00000331595.4	37	c.195C>T	CCDS14721.1																																																																																				0.637	BGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060981.1	NM_001711		76	4	0	0	0	1	0	76	4				
EPO	2056	broad.mit.edu	37	7	100320317	100320317	+	Missense_Mutation	SNP	G	G	T			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr7:100320317G>T	ENST00000252723.2	+	4	458	c.277G>T	c.(277-279)Ggc>Tgc	p.G93C		NM_000799.2	NP_000790.2	P01588	EPO_HUMAN	erythropoietin	93					aging (GO:0007568)|apoptotic process (GO:0006915)|blood circulation (GO:0008015)|cellular hyperosmotic response (GO:0071474)|cellular response to hypoxia (GO:0071456)|embryo implantation (GO:0007566)|erythrocyte maturation (GO:0043249)|hemoglobin biosynthetic process (GO:0042541)|negative regulation of calcium ion transport into cytosol (GO:0010523)|negative regulation of cation channel activity (GO:2001258)|negative regulation of erythrocyte apoptotic process (GO:1902251)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to axon injury (GO:0048678)|response to electrical stimulus (GO:0051602)|response to estrogen (GO:0043627)|response to hyperoxia (GO:0055093)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to salt stress (GO:0009651)|response to testosterone (GO:0033574)|response to vitamin A (GO:0033189)|signal transduction (GO:0007165)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	protein kinase activator activity (GO:0030295)			central_nervous_system(2)|endometrium(2)|lung(7)|prostate(1)	12	Lung NSC(181;0.041)|all_lung(186;0.0581)					AGTCTGGCAGGGCCTGGCCCT	0.657																																						ENST00000252723.2																			0				central_nervous_system(2)|endometrium(2)|lung(7)|prostate(1)	12						c.(277-279)Ggc>Tgc		erythropoietin	Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)						22.0	25.0	24.0					7																	100320317		2186	4264	6450	SO:0001583	missense	2056				blood circulation|cellular hyperosmotic response|erythrocyte maturation|negative regulation of apoptosis|negative regulation of ion transmembrane transporter activity|negative regulation of sodium ion transport|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat5 protein|signal transduction	extracellular space	erythropoietin receptor binding|eukaryotic cell surface binding|hormone activity	g.chr7:100320317G>T	X02157	CCDS5705.1	7q21	2014-01-30			ENSG00000130427	ENSG00000130427		"""Endogenous ligands"""	3415	protein-coding gene	gene with protein product		133170				9799793, 3838366	Standard	NM_000799		Approved	EP	uc003uwi.3	P01588	OTTHUMG00000152121	ENST00000252723.2:c.277G>T	7.37:g.100320317G>T	ENSP00000252723:p.Gly93Cys						p.G93C	NM_000799.2	NP_000790.2	P01588	EPO_HUMAN			4	458	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		93					Q2M2L6|Q549U2|Q9UDZ0|Q9UEZ5|Q9UHA0	Missense_Mutation	SNP	ENST00000252723.2	37	c.277G>T	CCDS5705.1	.	.	.	.	.	.	.	.	.	.	G	17.00	3.275924	0.59649	.	.	ENSG00000130427	ENST00000252723	T	0.53857	0.6	4.5	4.5	0.54988	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.000000	0.85682	D	0.000000	T	0.72946	0.3524	M	0.83012	2.62	0.47905	D	0.999542	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.77156	-0.2691	10	0.87932	D	0	-11.2119	12.8779	0.57999	0.0:0.0:1.0:0.0	.	93;93	B7ZKK5;P01588	.;EPO_HUMAN	C	93	ENSP00000252723:G93C	ENSP00000252723:G93C	G	+	1	0	EPO	100158253	1.000000	0.71417	1.000000	0.80357	0.681000	0.39784	4.480000	0.60243	2.505000	0.84491	0.448000	0.29417	GGC		0.657	EPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325323.1	NM_000799		11	33	1	0	2.27111e-07	1	2.3481e-07	11	33				
TRPA1	8989	broad.mit.edu	37	8	72942140	72942140	+	Missense_Mutation	SNP	A	A	G			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr8:72942140A>G	ENST00000262209.4	-	24	3140	c.2933T>C	c.(2932-2934)aTg>aCg	p.M978T	RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	978					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	ACTTACCTGCATAGCTATCCT	0.388																																						ENST00000262209.4																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98						c.(2932-2934)aTg>aCg		transient receptor potential cation channel, subfamily A, member 1	Menthol(DB00825)						118.0	90.0	99.0					8																	72942140		2203	4300	6503	SO:0001583	missense	8989					integral to plasma membrane		g.chr8:72942140A>G	Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	497	protein-coding gene	gene with protein product		604775	"""ankyrin-like with transmembrane domains 1"""	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.2933T>C	8.37:g.72942140A>G	ENSP00000262209:p.Met978Thr					RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron|RP11-383H13.1_ENST00000524152.1_Intron	p.M978T	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	Epithelial(68;0.223)		24	3140	-			978					A6NIN6	Missense_Mutation	SNP	ENST00000262209.4	37	c.2933T>C	CCDS34908.1	.	.	.	.	.	.	.	.	.	.	A	19.11	3.764807	0.69878	.	.	ENSG00000104321	ENST00000523582;ENST00000262209	T;T	0.35973	1.28;1.28	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.65544	0.2701	M	0.86028	2.79	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.71227	-0.4655	10	0.87932	D	0	-31.3421	16.5582	0.84512	1.0:0.0:0.0:0.0	.	978	O75762	TRPA1_HUMAN	T	830;978	ENSP00000428151:M830T;ENSP00000262209:M978T	ENSP00000262209:M978T	M	-	2	0	TRPA1	73104694	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	7.732000	0.84908	2.308000	0.77769	0.533000	0.62120	ATG		0.388	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332		20	35	0	0	0	1	0	20	35				
TMEM70	54968	broad.mit.edu	37	8	74891077	74891077	+	Missense_Mutation	SNP	T	T	G			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr8:74891077T>G	ENST00000312184.5	+	2	370	c.297T>G	c.(295-297)aaT>aaG	p.N99K	Y_RNA_ENST00000365350.1_RNA|TMEM70_ENST00000517439.1_Missense_Mutation_p.N99K	NM_001040613.2|NM_017866.5	NP_001035703.1|NP_060336.3	Q9BUB7	TMM70_HUMAN	transmembrane protein 70	99					mitochondrial proton-transporting ATP synthase complex assembly (GO:0033615)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial inner membrane (GO:0005743)				breast(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	8	Breast(64;0.0311)		Epithelial(68;0.0186)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0564)			ATACTGGCAATATGGCCCGAG	0.358																																						ENST00000312184.5																			0				breast(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	8						c.(295-297)aaT>aaG		transmembrane protein 70							158.0	171.0	167.0					8																	74891077		2203	4300	6503	SO:0001583	missense	54968				mitochondrial proton-transporting ATP synthase complex assembly	integral to mitochondrial membrane|mitochondrial inner membrane		g.chr8:74891077T>G	BC002748	CCDS6215.1, CCDS47876.1	8q21.11	2013-05-23				ENSG00000175606			26050	protein-coding gene	gene with protein product		612418				21945727, 22986587	Standard	NM_017866		Approved	FLJ20533	uc003yab.3	Q9BUB7		ENST00000312184.5:c.297T>G	8.37:g.74891077T>G	ENSP00000312599:p.Asn99Lys					TMEM70_ENST00000517439.1_Missense_Mutation_p.N99K	p.N99K	NM_001040613.2|NM_017866.5	NP_001035703.1|NP_060336.3	Q9BUB7	TMM70_HUMAN	Epithelial(68;0.0186)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0564)		2	370	+	Breast(64;0.0311)		99					E9PDY9|Q9NWY5	Missense_Mutation	SNP	ENST00000312184.5	37	c.297T>G	CCDS6215.1	.	.	.	.	.	.	.	.	.	.	T	16.19	3.052195	0.55218	.	.	ENSG00000175606	ENST00000517439;ENST00000312184	T;T	0.62105	0.05;1.2	4.71	3.56	0.40772	.	0.129990	0.49305	D	0.000151	T	0.63189	0.2490	L	0.32530	0.975	0.42281	D	0.992097	D;B	0.67145	0.996;0.112	P;B	0.61658	0.892;0.069	T	0.62329	-0.6877	10	0.46703	T	0.11	-13.0918	8.7687	0.34719	0.0:0.1628:0.0:0.8372	.	99;99	E9PDY9;Q9BUB7	.;TMM70_HUMAN	K	99	ENSP00000429467:N99K;ENSP00000312599:N99K	ENSP00000312599:N99K	N	+	3	2	TMEM70	75053631	0.989000	0.36119	0.990000	0.47175	0.702000	0.40608	1.386000	0.34419	0.956000	0.37904	0.529000	0.55759	AAT		0.358	TMEM70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379028.1	NM_017866		41	47	0	0	0	1	0	41	47				
PHF5A	84844	broad.mit.edu	37	22	41863526	41863526	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr22:41863526G>A	ENST00000216252.3	-	3	240	c.169C>T	c.(169-171)Cgc>Tgc	p.R57C	ACO2_ENST00000216254.4_5'Flank|ACO2_ENST00000396512.3_5'Flank|PHF5A_ENST00000491254.1_5'UTR	NM_032758.3	NP_116147.1	Q7RTV0	PHF5A_HUMAN	PHD finger protein 5A	57					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of transcription, DNA-templated (GO:0045893)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|U12-type spliceosomal complex (GO:0005689)|U2 snRNP (GO:0005686)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R57S(1)		central_nervous_system(1)|large_intestine(2)|lung(1)	4						ATCACACAGCGCCCCTGGTAA	0.507																																					Ovarian(15;130 571 1826 2981 46141)	ENST00000216252.3																			1	Substitution - Missense(1)	p.R57S(1)	central_nervous_system(1)	central_nervous_system(1)|large_intestine(2)|lung(1)	4						c.(169-171)Cgc>Tgc		PHD finger protein 5A							104.0	85.0	91.0					22																	41863526		2203	4300	6503	SO:0001583	missense	84844				nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent	nuclear speck|U12-type spliceosomal complex|U2 snRNP	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:41863526G>A	BC007321	CCDS14016.1	22q13.2	2014-02-14			ENSG00000100410	ENSG00000100410		"""Zinc fingers, PHD-type"""	18000	protein-coding gene	gene with protein product	"""splicing factor 3b, subunit 7"""					12054543, 12234937, 18076038	Standard	NM_032758		Approved	MGC1346, SF3b14b, INI, bK223H9.2, Rds3, SAP14b, SF3B7	uc003bab.3	Q7RTV0	OTTHUMG00000150966	ENST00000216252.3:c.169C>T	22.37:g.41863526G>A	ENSP00000216252:p.Arg57Cys					PHF5A_ENST00000491254.1_5'UTR	p.R57C	NM_032758.3	NP_116147.1	Q7RTV0	PHF5A_HUMAN			3	240	-			57					Q9UH06	Missense_Mutation	SNP	ENST00000216252.3	37	c.169C>T	CCDS14016.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.704285	0.88924	.	.	ENSG00000100410	ENST00000216252	.	.	.	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.79707	0.4492	M	0.89658	3.05	0.80722	D	1	B	0.27229	0.172	B	0.31245	0.126	T	0.79035	-0.1968	9	0.51188	T	0.08	-18.9427	19.8379	0.96666	0.0:0.0:1.0:0.0	.	57	Q7RTV0	PHF5A_HUMAN	C	57	.	ENSP00000216252:R57C	R	-	1	0	PHF5A	40193472	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	9.547000	0.98100	2.765000	0.95021	0.655000	0.94253	CGC		0.507	PHF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320686.1	NM_032758		28	50	0	0	0	1	0	28	50				
OLFM4	10562	broad.mit.edu	37	13	53624470	53624470	+	Missense_Mutation	SNP	A	A	T			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr13:53624470A>T	ENST00000219022.2	+	5	1175	c.1097A>T	c.(1096-1098)aAt>aTt	p.N366I		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	366	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				cell adhesion (GO:0007155)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein homooligomerization (GO:0051260)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|specific granule (GO:0042581)	cadherin binding (GO:0045296)|catalytic activity (GO:0003824)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		ACTCTCCCTAATGCTGCCTAT	0.403																																						ENST00000219022.2																			0				breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39						c.(1096-1098)aAt>aTt		olfactomedin 4							206.0	201.0	203.0					13																	53624470		2203	4300	6503	SO:0001583	missense	10562				cell adhesion	extracellular space		g.chr13:53624470A>T	AY358567	CCDS9440.1	13q14	2004-06-25			ENSG00000102837	ENSG00000102837			17190	protein-coding gene	gene with protein product		614061					Standard	NM_006418		Approved	OlfD, GW112, GC1	uc001vhl.3	Q6UX06	OTTHUMG00000016981	ENST00000219022.2:c.1097A>T	13.37:g.53624470A>T	ENSP00000219022:p.Asn366Ile						p.N366I	NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN		GBM - Glioblastoma multiforme(99;3.13e-08)	5	1175	+		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	366			Olfactomedin-like.		O95362|Q5VWG0|Q86T22	Missense_Mutation	SNP	ENST00000219022.2	37	c.1097A>T	CCDS9440.1	.	.	.	.	.	.	.	.	.	.	A	16.86	3.239333	0.58995	.	.	ENSG00000102837	ENST00000219022	T	0.11277	2.79	5.92	-1.21	0.09524	Olfactomedin-like (3);	1.326390	0.04476	N	0.376908	T	0.16557	0.0398	M	0.72353	2.195	0.09310	N	1	P	0.44380	0.834	P	0.46389	0.515	T	0.18085	-1.0348	10	0.52906	T	0.07	.	1.9847	0.03434	0.4929:0.2163:0.1863:0.1044	.	366	Q6UX06	OLFM4_HUMAN	I	366	ENSP00000219022:N366I	ENSP00000219022:N366I	N	+	2	0	OLFM4	52522471	0.000000	0.05858	0.015000	0.15790	0.394000	0.30568	0.350000	0.20079	-0.405000	0.07599	-0.297000	0.09499	AAT		0.403	OLFM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045112.2	NM_006418		139	161	0	0	0	1	0	139	161				
FZD4	8322	broad.mit.edu	37	11	86662454	86662454	+	Silent	SNP	T	T	C			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr11:86662454T>C	ENST00000531380.1	-	2	1649	c.1344A>G	c.(1342-1344)gcA>gcG	p.A448A	PRSS23_ENST00000533902.2_3'UTR|PRSS23_ENST00000531521.1_3'UTR	NM_012193.3	NP_036325.2	Q9ULV1	FZD4_HUMAN	frizzled class receptor 4	448					brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|cerebellum vasculature morphogenesis (GO:0061301)|extracellular matrix-cell signaling (GO:0035426)|locomotion involved in locomotory behavior (GO:0031987)|negative regulation of cell-substrate adhesion (GO:0010812)|neuron differentiation (GO:0030182)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone secretion (GO:0042701)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal blood vessel morphogenesis (GO:0061304)|sensory perception of sound (GO:0007605)|substrate adhesion-dependent cell spreading (GO:0034446)|vasculogenesis (GO:0001570)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine binding (GO:0019955)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1)	21		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TCACACACGTTGCAGGAACTG	0.393																																						ENST00000531380.1																			0				breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1)	21						c.(1342-1344)gcA>gcG		frizzled family receptor 4							165.0	148.0	154.0					11																	86662454		2201	4299	6500	SO:0001819	synonymous_variant	8322				canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|negative regulation of cell-substrate adhesion|neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|progesterone secretion|regulation of vascular endothelial growth factor receptor signaling pathway|substrate adhesion-dependent cell spreading|vasculogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cell projection|cell surface|cytoplasm	cytokine binding|G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding	g.chr11:86662454T>C	AB032417	CCDS8279.1	11q14-q21	2014-01-29	2014-01-29			ENSG00000174804		"""GPCR / Class F : Frizzled receptors"", ""CD molecules"""	4042	protein-coding gene	gene with protein product		604579	"""frizzled (Drosophila) homolog 4"", ""exudative vitreoretinopathy 1"", ""frizzled homolog 4 (Drosophila)"", ""frizzled 4, seven transmembrane spanning receptor"", ""frizzled family receptor 4"""	EVR1		10544037, 15024691	Standard	NM_012193		Approved	CD344	uc001pce.3	Q9ULV1		ENST00000531380.1:c.1344A>G	11.37:g.86662454T>C						PRSS23_ENST00000531521.1_3'UTR|PRSS23_ENST00000533902.2_3'UTR	p.A448A	NM_012193.3	NP_036325.2	Q9ULV1	FZD4_HUMAN			2	1649	-		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	448					A8K9Q3|Q14C97|Q6S9E4	Silent	SNP	ENST00000531380.1	37	c.1344A>G	CCDS8279.1																																																																																				0.393	FZD4-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393818.2	NM_012193		51	130	0	0	0	1	0	51	130				
ANKRD20A8P	729171	broad.mit.edu	37	2	95522772	95522772	+	RNA	SNP	T	T	C	rs368571207		TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr2:95522772T>C	ENST00000432432.2	-	0	255					NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene									p.E49G(1)									GCGCTCCACCTCCGCGGCGTC	0.682																																						ENST00000432432.2																			1	Substitution - Missense(1)	p.E49G(1)	kidney(1)																																																0							g.chr2:95522772T>C			2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95522772T>C								NR_040113.1						0	255	-								A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																						0.682	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			4	68	0	0	0	1	0	4	68				
PRKCQ	5588	broad.mit.edu	37	10	6553002	6553002	+	Silent	SNP	C	C	T			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr10:6553002C>T	ENST00000263125.5	-	3	372	c.273G>A	c.(271-273)tcG>tcA	p.S91S	PRKCQ_ENST00000397176.2_Silent_p.S91S|PRKCQ_ENST00000539722.1_5'UTR	NM_001282644.1|NM_006257.3	NP_001269573.1|NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	91	C2.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|membrane protein ectodomain proteolysis (GO:0006509)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of T cell apoptotic process (GO:0070233)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of T-helper 2 cell activation (GO:2000570)|protein ubiquitination (GO:0016567)|regulation of cell growth (GO:0001558)|regulation of platelet aggregation (GO:0090330)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of transcription, DNA-templated (GO:0006355)|rhodopsin mediated signaling pathway (GO:0016056)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45					Tamoxifen(DB00675)	TCTCAGCCAGCGAGTAGAGCT	0.468																																					Ovarian(50;572 1126 10530 25349 30594)	ENST00000263125.5																			0				NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						c.(271-273)tcG>tcA		protein kinase C, theta							235.0	207.0	217.0					10																	6553002		2203	4300	6503	SO:0001819	synonymous_variant	5588				axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr10:6553002C>T	L07032	CCDS7079.1, CCDS55701.1, CCDS60482.1	10p15	2009-07-10			ENSG00000065675	ENSG00000065675	2.7.11.1		9410	protein-coding gene	gene with protein product		600448				8444877	Standard	NM_001282645		Approved		uc001ijj.2	Q04759	OTTHUMG00000017623	ENST00000263125.5:c.273G>A	10.37:g.6553002C>T						PRKCQ_ENST00000539722.1_5'UTR|PRKCQ_ENST00000397176.2_Silent_p.S91S	p.S91S	NM_006257.3	NP_006248.1	Q04759	KPCT_HUMAN			3	372	-			91			C2.		B4DF52|Q14DH6|Q3MJF1|Q64FY5|Q9H508|Q9H549	Silent	SNP	ENST00000263125.5	37	c.273G>A	CCDS7079.1																																																																																				0.468	PRKCQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046665.1	NM_006257		5	181	0	0	0	1	0	5	181				
TTN	7273	broad.mit.edu	37	2	179569118	179569118	+	Silent	SNP	C	C	T	rs373179866		TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr2:179569118C>T	ENST00000591111.1	-	104	29252	c.29028G>A	c.(29026-29028)cgG>cgA	p.R9676R	TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Silent_p.R8749R|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000589042.1_Silent_p.R9993R|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin	13754	Ig-like 78.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTGAAGATGCCGTTCCCATG	0.403																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(29977-29979)cgG>cgA		titin							184.0	177.0	179.0					2																	179569118		1988	4175	6163	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179569118C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.29028G>A	2.37:g.179569118C>T						TTN_ENST00000591111.1_Silent_p.R9676R|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Silent_p.R8749R|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron	p.R9993R	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		106	30203	-			9676			Glu-rich.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.29979G>A																																																																																					0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		5	242	0	0	0	1	0	5	242				
EFCAB5	374786	broad.mit.edu	37	17	28380480	28380480	+	Missense_Mutation	SNP	C	C	A			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr17:28380480C>A	ENST00000394835.3	+	10	1700	c.1508C>A	c.(1507-1509)cCa>cAa	p.P503Q	EFCAB5_ENST00000541045.1_Missense_Mutation_p.P160Q|EFCAB5_ENST00000320856.5_Missense_Mutation_p.P503Q|EFCAB5_ENST00000536908.2_Missense_Mutation_p.P447Q|EFCAB5_ENST00000394832.2_Missense_Mutation_p.P503Q|EFCAB5_ENST00000378738.3_Missense_Mutation_p.P503Q	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	503							calcium ion binding (GO:0005509)			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						ACACCATCACCAAACCCGCCA	0.398																																						ENST00000394835.3																			0				breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						c.(1507-1509)cCa>cAa		EF-hand calcium binding domain 5							101.0	104.0	103.0					17																	28380480		1952	4149	6101	SO:0001583	missense	374786						calcium ion binding	g.chr17:28380480C>A	AL833911	CCDS11254.2, CCDS54103.1	17q11.2	2013-01-10			ENSG00000176927	ENSG00000176927		"""EF-hand domain containing"""	24801	protein-coding gene	gene with protein product							Standard	NM_198529		Approved	FLJ46247	uc002het.3	A4FU69	OTTHUMG00000132753	ENST00000394835.3:c.1508C>A	17.37:g.28380480C>A	ENSP00000378312:p.Pro503Gln					EFCAB5_ENST00000378738.3_Missense_Mutation_p.P503Q|EFCAB5_ENST00000541045.1_Missense_Mutation_p.P160Q|EFCAB5_ENST00000536908.2_Missense_Mutation_p.P447Q|EFCAB5_ENST00000394832.2_Missense_Mutation_p.P503Q|EFCAB5_ENST00000320856.5_Missense_Mutation_p.P503Q	p.P503Q	NM_198529.3	NP_940931.2	A4FU69	EFCB5_HUMAN			10	1700	+			503					B2RPN0|B4DS75|B4DZR5|F5GYL2|Q0VD68|Q6ZRM6|Q8NDG9	Missense_Mutation	SNP	ENST00000394835.3	37	c.1508C>A	CCDS11254.2	.	.	.	.	.	.	.	.	.	.	C	3.683	-0.065115	0.07273	.	.	ENSG00000176927	ENST00000536908;ENST00000534836;ENST00000541045;ENST00000394835;ENST00000320856;ENST00000394832;ENST00000378738;ENST00000423598;ENST00000419434	T;T;T;T;T;T;T	0.42513	1.97;0.97;2.98;2.99;2.3;1.97;2.98	4.96	1.8	0.24995	.	0.571260	0.14261	N	0.330811	T	0.16428	0.0395	N	0.04508	-0.205	0.09310	N	1	B;B;B;B;B;B	0.15141	0.007;0.012;0.012;0.004;0.005;0.001	B;B;B;B;B;B	0.16289	0.007;0.015;0.009;0.01;0.005;0.002	T	0.25398	-1.0133	10	0.14252	T	0.57	-1.5548	4.4959	0.11837	0.1872:0.6169:0.0:0.1959	.	447;447;503;503;503;503	B4DS75;F5GYL2;A8MSY9;B5MEA3;E7EVS9;A4FU69	.;.;.;.;.;EFCB5_HUMAN	Q	447;246;160;503;503;503;503;447;309	ENSP00000440619:P447Q;ENSP00000445575:P160Q;ENSP00000378312:P503Q;ENSP00000322003:P503Q;ENSP00000378309:P503Q;ENSP00000368012:P503Q;ENSP00000417009:P309Q	ENSP00000322003:P503Q	P	+	2	0	EFCAB5	25404606	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	-0.329000	0.07935	0.470000	0.27294	0.561000	0.74099	CCA		0.398	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256120.4	NM_198529		4	80	1	0	0.014758	1	0.015004	4	80				
C4BPA	722	broad.mit.edu	37	1	207307914	207307914	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr1:207307914C>T	ENST00000367070.3	+	9	1444	c.1250C>T	c.(1249-1251)cCc>cTc	p.P417L		NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	417	Sushi 6. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|negative regulation of complement activation, classical pathway (GO:0045959)|positive regulation of protein catabolic process (GO:0045732)|regulation of complement activation (GO:0030449)|regulation of opsonization (GO:1903027)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|other organism cell (GO:0044216)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)	p.P417L(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						ACGTGGAGTCCCCGAACACCA	0.393																																						ENST00000367070.3																			1	Substitution - Missense(1)	p.P417L(1)	lung(1)	breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						c.(1249-1251)cCc>cTc		complement component 4 binding protein, alpha							135.0	126.0	129.0					1																	207307914		2203	4300	6503	SO:0001583	missense	722				complement activation, classical pathway|innate immune response	extracellular region	protein binding	g.chr1:207307914C>T	M31452	CCDS1477.1	1q32	2010-09-24	2001-11-28		ENSG00000123838	ENSG00000123838			1325	protein-coding gene	gene with protein product		120830	"""complement component 4-binding protein, alpha"""	C4BP			Standard	XM_005273251		Approved		uc001hfo.3	P04003	OTTHUMG00000036173	ENST00000367070.3:c.1250C>T	1.37:g.207307914C>T	ENSP00000356037:p.Pro417Leu						p.P417L	NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN			9	1444	+			417			Sushi 6.		Q5VVQ8	Missense_Mutation	SNP	ENST00000367070.3	37	c.1250C>T	CCDS1477.1	.	.	.	.	.	.	.	.	.	.	C	18.50	3.637841	0.67130	.	.	ENSG00000123838	ENST00000367070	T	0.65916	-0.18	4.67	4.67	0.58626	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.52532	D	0.000075	T	0.75845	0.3905	M	0.73962	2.25	0.29235	N	0.873046	D	0.76494	0.999	D	0.71656	0.974	T	0.70916	-0.4742	10	0.30854	T	0.27	.	13.4317	0.61059	0.0:1.0:0.0:0.0	.	417	P04003	C4BPA_HUMAN	L	417	ENSP00000356037:P417L	ENSP00000356037:P417L	P	+	2	0	C4BPA	205374537	0.113000	0.22115	0.060000	0.19600	0.346000	0.29079	3.092000	0.50207	2.303000	0.77524	0.591000	0.81541	CCC		0.393	C4BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088089.3			19	128	0	0	0	1	0	19	128				
MDGA1	266727	broad.mit.edu	37	6	37613989	37613989	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr6:37613989T>C	ENST00000434837.3	-	11	3387	c.2209A>G	c.(2209-2211)Atc>Gtc	p.I737V	MDGA1_ENST00000510077.1_5'Flank|MDGA1_ENST00000505425.1_Missense_Mutation_p.I737V|MDGA1_ENST00000297153.7_Missense_Mutation_p.I740V	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	737	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				brain development (GO:0007420)|cerebral cortex radially oriented cell migration (GO:0021799)|neuron migration (GO:0001764)|spinal cord association neuron differentiation (GO:0021527)	anchored component of plasma membrane (GO:0046658)|extracellular space (GO:0005615)				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						GTGTAGTGGATGATGCGGGAG	0.592																																						ENST00000434837.2																			0				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						c.(2209-2211)Atc>Gtc		MAM domain containing glycosylphosphatidylinositol anchor 1							40.0	43.0	42.0					6																	37613989		2110	4230	6340	SO:0001583	missense	266727				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane		g.chr6:37613989T>C	AF478693	CCDS47417.1	6p21	2013-01-29			ENSG00000112139	ENSG00000112139		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19267	protein-coding gene	gene with protein product		609626				15922729, 15019943	Standard	NM_153487		Approved	GPIM, MAMDC3	uc003onu.1	Q8NFP4	OTTHUMG00000014626	ENST00000434837.3:c.2209A>G	6.37:g.37613989T>C	ENSP00000402584:p.Ile737Val					MDGA1_ENST00000297153.7_Missense_Mutation_p.I740V|MDGA1_ENST00000505425.1_Missense_Mutation_p.I737V	p.I737V	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN			11	3387	-			737			Fibronectin type-III.		A6NHG0|Q8NBE3	Missense_Mutation	SNP	ENST00000434837.3	37	c.2209A>G	CCDS47417.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.138897	0.77775	.	.	ENSG00000112139	ENST00000434837;ENST00000297153;ENST00000505425	T;T;T	0.53206	0.63;0.63;0.63	5.91	4.74	0.60224	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.000000	0.51477	D	0.000095	T	0.43678	0.1258	L	0.47716	1.5	0.45227	D	0.998237	B;D	0.53885	0.031;0.963	B;D	0.64877	0.016;0.93	T	0.34204	-0.9838	10	0.21540	T	0.41	.	11.4371	0.50074	0.0:0.0703:0.0:0.9297	.	737;737	Q8NFP4-2;Q8NFP4	.;MDGA1_HUMAN	V	737;740;737	ENSP00000402584:I737V;ENSP00000297153:I740V;ENSP00000422042:I737V	ENSP00000297153:I740V	I	-	1	0	MDGA1	37721967	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.859000	0.62954	1.046000	0.40249	0.533000	0.62120	ATC		0.592	MDGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040419.3			10	10	0	0	0	1	0	10	10				
TDRD6	221400	broad.mit.edu	37	6	46656880	46656880	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr6:46656880C>T	ENST00000316081.6	+	1	1015	c.1015C>T	c.(1015-1017)Cgc>Tgc	p.R339C	TDRD6_ENST00000544460.1_Missense_Mutation_p.R339C|RP11-446F17.3_ENST00000571590.1_RNA|RP11-446F17.3_ENST00000422284.2_RNA|RP11-446F17.3_ENST00000434329.2_RNA	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	339	Tudor 2. {ECO:0000255|PROSITE- ProRule:PRU00211}.				germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			TCGGCCCCAGCGCTGTGCCCA	0.557																																						ENST00000544460.1																			0				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(1015-1017)Cgc>Tgc		tudor domain containing 6							93.0	90.0	91.0					6																	46656880		2203	4300	6503	SO:0001583	missense	221400				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding	g.chr6:46656880C>T	AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"""Tudor domain containing"""	21339	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.2"", ""spermatogenesis associated 36"""	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.1015C>T	6.37:g.46656880C>T	ENSP00000346065:p.Arg339Cys					TDRD6_ENST00000316081.6_Missense_Mutation_p.R339C	p.R339C	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	Lung(136;0.192)		1	1269	+			339			Tudor 2.		B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Missense_Mutation	SNP	ENST00000316081.6	37	c.1015C>T	CCDS34470.1	.	.	.	.	.	.	.	.	.	.	C	11.43	1.635715	0.29068	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	T;T	0.12039	2.72;2.72	5.54	4.67	0.58626	Tudor subgroup (1);Maternal tudor protein (1);Tudor domain (1);	0.969853	0.08597	N	0.922161	T	0.03095	0.0091	N	0.22421	0.69	0.23602	N	0.997315	P;P	0.44380	0.801;0.834	B;B	0.37833	0.168;0.259	T	0.34601	-0.9822	10	0.54805	T	0.06	-12.1643	4.1668	0.10310	0.2536:0.5357:0.1326:0.0781	.	339;339	F5H5M3;O60522	.;TDRD6_HUMAN	C	339	ENSP00000443299:R339C;ENSP00000346065:R339C	ENSP00000346065:R339C	R	+	1	0	TDRD6	46764839	0.967000	0.33354	1.000000	0.80357	0.988000	0.76386	0.835000	0.27531	1.571000	0.49722	0.655000	0.94253	CGC		0.557	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443		33	53	0	0	0	1	0	33	53				
SIN3A	25942	broad.mit.edu	37	15	75687040	75687040	+	Missense_Mutation	SNP	A	A	G			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr15:75687040A>G	ENST00000394947.3	-	14	2572	c.2258T>C	c.(2257-2259)aTt>aCt	p.I753T	SIN3A_ENST00000394949.4_Missense_Mutation_p.I753T|SIN3A_ENST00000360439.4_Missense_Mutation_p.I753T	NM_001145358.1	NP_001138830.1			SIN3 transcription regulator family member A											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						GATACTCTCAATCTCATTGAG	0.418																																						ENST00000394947.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						c.(2257-2259)aTt>aCt		SIN3 transcription regulator family member A							224.0	195.0	205.0					15																	75687040		2197	4294	6491	SO:0001583	missense	25942				blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding	g.chr15:75687040A>G	AK027559	CCDS10279.1	15q22.33	2013-08-21	2013-08-21		ENSG00000169375	ENSG00000169375			19353	protein-coding gene	gene with protein product		607776	"""SIN3 homolog A, transcription regulator (yeast)"", ""SIN3 transcription regulator homolog A (yeast)"""			10773092, 7601471	Standard	NM_001145357		Approved	KIAA0700, DKFZP434K2235	uc002bai.3	Q96ST3	OTTHUMG00000142834	ENST00000394947.3:c.2258T>C	15.37:g.75687040A>G	ENSP00000378402:p.Ile753Thr					SIN3A_ENST00000360439.4_Missense_Mutation_p.I753T|SIN3A_ENST00000394949.4_Missense_Mutation_p.I753T	p.I753T	NM_001145358.1	NP_001138830.1	Q96ST3	SIN3A_HUMAN			14	2572	-			753			Interaction with NCOR1 (By similarity).|Interactions with HDAC1 and ARID4B.			Missense_Mutation	SNP	ENST00000394947.3	37	c.2258T>C	CCDS10279.1	.	.	.	.	.	.	.	.	.	.	A	23.0	4.358792	0.82243	.	.	ENSG00000169375	ENST00000394947;ENST00000394949;ENST00000360439	T;T;T	0.60548	0.18;0.18;0.18	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.80396	0.4615	H	0.96460	3.825	0.80722	D	1	D	0.56035	0.974	P	0.55615	0.78	D	0.86863	0.2031	10	0.87932	D	0	-16.7567	15.4658	0.75400	1.0:0.0:0.0:0.0	.	753	Q96ST3	SIN3A_HUMAN	T	753	ENSP00000378402:I753T;ENSP00000378403:I753T;ENSP00000353622:I753T	ENSP00000353622:I753T	I	-	2	0	SIN3A	73474093	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.334000	0.96470	2.306000	0.77630	0.482000	0.46254	ATT		0.418	SIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286469.1	NM_015477		63	155	0	0	0	1	0	63	155				
SAMD8	142891	broad.mit.edu	37	10	76928352	76928352	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr10:76928352G>A	ENST00000542569.1	+	4	831	c.728G>A	c.(727-729)cGc>cAc	p.R243H	SAMD8_ENST00000372687.4_Missense_Mutation_p.R243H|SAMD8_ENST00000372690.3_Missense_Mutation_p.R306H	NM_001174156.1|NM_144660.2	NP_001167627.1|NP_653261.1	Q96LT4	SAMD8_HUMAN	sterile alpha motif domain containing 8	243					ceramide biosynthetic process (GO:0046513)|regulation of ceramide biosynthetic process (GO:2000303)|sphingomyelin biosynthetic process (GO:0006686)	integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	transferase activity (GO:0016740)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	12	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					TTCTTGCTTCGCTGCTTTACC	0.453																																						ENST00000542569.1																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	12						c.(727-729)cGc>cAc		sterile alpha motif domain containing 8							342.0	311.0	321.0					10																	76928352		2203	4300	6503	SO:0001583	missense	142891				sphingomyelin biosynthetic process	integral to membrane		g.chr10:76928352G>A	AK057811	CCDS7347.1, CCDS53543.1	10q22.3	2013-01-10			ENSG00000156671	ENSG00000156671		"""Sterile alpha motif (SAM) domain containing"""	26320	protein-coding gene	gene with protein product		611575					Standard	NM_144660		Approved	FLJ25082	uc001jwx.2	Q96LT4	OTTHUMG00000018515	ENST00000542569.1:c.728G>A	10.37:g.76928352G>A	ENSP00000438042:p.Arg243His					SAMD8_ENST00000372687.3_Missense_Mutation_p.R243H|SAMD8_ENST00000372690.3_Missense_Mutation_p.R306H	p.R243H	NM_001174156.1|NM_144660.2	NP_001167627.1|NP_653261.1	Q96LT4	SAMD8_HUMAN			4	831	+	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)		243					Q5JSC5|Q5JSC8|Q66K52	Missense_Mutation	SNP	ENST00000542569.1	37	c.728G>A	CCDS53543.1	.	.	.	.	.	.	.	.	.	.	G	36	5.706617	0.96821	.	.	ENSG00000156671	ENST00000447533;ENST00000372690;ENST00000542569;ENST00000372687	D;D;D;D	0.93859	-3.3;-3.3;-3.3;-3.3	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.97368	0.9139	M	0.88906	2.99	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.97812	1.0251	10	0.87932	D	0	-6.2394	19.5724	0.95427	0.0:0.0:1.0:0.0	.	243;243	Q96LT4-2;Q96LT4	.;SAMD8_HUMAN	H	243;306;243;243	ENSP00000391799:R243H;ENSP00000361775:R306H;ENSP00000438042:R243H;ENSP00000361772:R243H	ENSP00000361772:R243H	R	+	2	0	SAMD8	76598358	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.624000	0.88883	0.650000	0.86243	CGC		0.453	SAMD8-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_144660		5	208	0	0	0	1	0	5	208				
PARD6B	84612	broad.mit.edu	37	20	49354410	49354410	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr20:49354410G>A	ENST00000371610.2	+	2	326	c.83G>A	c.(82-84)cGt>cAt	p.R28H	PARD6B_ENST00000396039.1_Missense_Mutation_p.R28H	NM_032521.2	NP_115910.1	Q9BYG5	PAR6B_HUMAN	par-6 family cell polarity regulator beta	28	OPR.				axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell junction assembly (GO:0034329)|cell-cell junction assembly (GO:0007043)|cell-cell junction organization (GO:0045216)|establishment or maintenance of cell polarity (GO:0007163)|protein complex assembly (GO:0006461)|regulation of cell migration (GO:0030334)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				NS(1)|breast(1)|endometrium(1)|kidney(4)|lung(3)|urinary_tract(1)	11						GCTGAATTTCGTCGGTTTTCG	0.323																																						ENST00000371610.2																			0				NS(1)|breast(1)|endometrium(1)|kidney(4)|lung(3)|urinary_tract(1)	11						c.(82-84)cGt>cAt		par-6 family cell polarity regulator beta							60.0	60.0	60.0					20																	49354410		2203	4300	6503	SO:0001583	missense	84612				axonogenesis|cell cycle|cell division|establishment or maintenance of cell polarity|protein complex assembly|regulation of cell migration|tight junction assembly	cytosol|tight junction	protein binding	g.chr20:49354410G>A	AB044555	CCDS33485.1	20q13.13	2013-08-28	2013-08-28		ENSG00000124171	ENSG00000124171			16245	protein-coding gene	gene with protein product		608975	"""par-6 (partitioning defective 6, C.elegans) homolog beta"", ""par-6 partitioning defective 6 homolog beta (C. elegans)"""			11260256	Standard	NM_032521		Approved	PAR-6B	uc002xvo.3	Q9BYG5	OTTHUMG00000032732	ENST00000371610.2:c.83G>A	20.37:g.49354410G>A	ENSP00000360672:p.Arg28His					PARD6B_ENST00000396039.1_Missense_Mutation_p.R28H	p.R28H	NM_032521.2	NP_115910.1	Q9BYG5	PAR6B_HUMAN			2	326	+			28			OPR.		A2A2A7|Q9Y510	Missense_Mutation	SNP	ENST00000371610.2	37	c.83G>A	CCDS33485.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.564659	0.86439	.	.	ENSG00000124171	ENST00000371610;ENST00000396039	T;T	0.26518	1.73;1.73	6.03	5.09	0.68999	Phox/Bem1p (2);	0.000000	0.85682	D	0.000000	T	0.54334	0.1852	M	0.83118	2.625	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.61811	-0.6986	10	0.87932	D	0	-15.9007	14.1541	0.65405	0.0712:0.0:0.9288:0.0	.	28	Q9BYG5	PAR6B_HUMAN	H	28	ENSP00000360672:R28H;ENSP00000379354:R28H	ENSP00000360672:R28H	R	+	2	0	PARD6B	48787817	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	9.431000	0.97494	1.557000	0.49525	0.557000	0.71058	CGT		0.323	PARD6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079697.2	NM_032521		27	59	0	0	0	1	0	27	59				
OCIAD1	54940	broad.mit.edu	37	4	48835438	48835438	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr4:48835438C>T	ENST00000381473.3	+	3	497	c.79C>T	c.(79-81)Cca>Tca	p.P27S	OCIAD1_ENST00000396448.2_Missense_Mutation_p.P27S|OCIAD1_ENST00000444354.2_Missense_Mutation_p.P27S|OCIAD1_ENST00000508293.1_Missense_Mutation_p.P27S|OCIAD1_ENST00000509122.1_Intron|OCIAD1_ENST00000506801.1_Intron|OCIAD1_ENST00000264312.7_Missense_Mutation_p.P27S|OCIAD1_ENST00000512981.1_3'UTR|OCIAD1_ENST00000425583.2_Missense_Mutation_p.P27S|OCIAD1_ENST00000513391.2_Missense_Mutation_p.P27S	NM_001079839.2	NP_001073308.1	Q9NX40	OCAD1_HUMAN	OCIA domain containing 1	27	OCIA.					endosome (GO:0005768)|membrane (GO:0016020)|mitochondrion (GO:0005739)				breast(2)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	9						TGATTACATTCCAACAGAGGA	0.318																																						ENST00000425583.2																			0				breast(2)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	9						c.(79-81)Cca>Tca		OCIA domain containing 1							64.0	67.0	66.0					4																	48835438		2203	4300	6503	SO:0001583	missense	54940					endosome	protein binding	g.chr4:48835438C>T	AF324350	CCDS3484.1, CCDS43228.1, CCDS47052.1	4p11	2010-03-19			ENSG00000109180	ENSG00000109180			16074	protein-coding gene	gene with protein product						11162530, 18328549	Standard	NM_017830		Approved	FLJ20455, TPA018, OCIA, Asrij	uc010igk.3	Q9NX40	OTTHUMG00000102095	ENST00000381473.3:c.79C>T	4.37:g.48835438C>T	ENSP00000370882:p.Pro27Ser					OCIAD1_ENST00000444354.2_Missense_Mutation_p.P27S|OCIAD1_ENST00000509122.1_Intron|OCIAD1_ENST00000264312.7_Missense_Mutation_p.P27S|OCIAD1_ENST00000506801.1_Intron|OCIAD1_ENST00000512981.1_3'UTR|OCIAD1_ENST00000513391.2_Missense_Mutation_p.P27S|OCIAD1_ENST00000381473.3_Missense_Mutation_p.P27S|OCIAD1_ENST00000396448.2_Missense_Mutation_p.P27S|OCIAD1_ENST00000508293.1_Missense_Mutation_p.P27S	p.P27S	NM_001079842.2	NP_001073311.2	Q9NX40	OCAD1_HUMAN			3	354	+			27			OCIA.		C9K030|G8JLN7|Q9BZE8	Missense_Mutation	SNP	ENST00000381473.3	37	c.79C>T	CCDS3484.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.514423	0.85389	.	.	ENSG00000109180	ENST00000504654;ENST00000509664;ENST00000514981;ENST00000511662;ENST00000508996;ENST00000507210;ENST00000264312;ENST00000396448;ENST00000512236;ENST00000509164;ENST00000511102;ENST00000381473;ENST00000444354;ENST00000509963;ENST00000425583;ENST00000508293;ENST00000513391	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93;0.93;0.93;0.93;0.93;0.93;0.93;0.93;0.93;0.93;0.93;0.93	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.63674	0.2531	M	0.68317	2.08	0.38386	D	0.945261	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.994;0.994;0.996	T	0.68530	-0.5384	10	0.72032	D	0.01	-10.2353	16.1857	0.81950	0.0:1.0:0.0:0.0	.	27;27;27	Q9NX40-3;Q9NX40-2;Q9NX40	.;.;OCAD1_HUMAN	S	27	ENSP00000423381:P27S;ENSP00000422171:P27S;ENSP00000423845:P27S;ENSP00000424252:P27S;ENSP00000420917:P27S;ENSP00000264312:P27S;ENSP00000379725:P27S;ENSP00000426386:P27S;ENSP00000426902:P27S;ENSP00000427389:P27S;ENSP00000370882:P27S;ENSP00000399656:P27S;ENSP00000425633:P27S;ENSP00000416943:P27S;ENSP00000423002:P27S;ENSP00000423909:P27S	ENSP00000264312:P27S	P	+	1	0	OCIAD1	48530195	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.274000	0.58921	2.546000	0.85860	0.655000	0.94253	CCA		0.318	OCIAD1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361812.3	NM_017830		23	48	0	0	0	1	0	23	48				
KCNAB3	9196	broad.mit.edu	37	17	7826851	7826851	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr17:7826851G>A	ENST00000303790.2	-	13	1059	c.1060C>T	c.(1060-1062)Cgc>Tgc	p.R354C		NM_004732.3	NP_004723.2	O43448	KCAB3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 3	354					potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	8		Prostate(122;0.157)				CCCTCACTGCGGAGACACCAC	0.577																																						ENST00000303790.2																			0				breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	8						c.(1060-1062)Cgc>Tgc		potassium voltage-gated channel, shaker-related subfamily, beta member 3							26.0	24.0	25.0					17																	7826851		2203	4300	6503	SO:0001583	missense	9196					cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity	g.chr17:7826851G>A	AF016411	CCDS11124.1	17p13.1	2006-11-29			ENSG00000170049	ENSG00000170049		"""Potassium channels"", ""Aldo-keto reductases"""	6230	protein-coding gene	gene with protein product		604111				9857044	Standard	NM_004732		Approved	AKR6A9, KCNA3B	uc002gjm.2	O43448	OTTHUMG00000108170	ENST00000303790.2:c.1060C>T	17.37:g.7826851G>A	ENSP00000302719:p.Arg354Cys						p.R354C	NM_004732.3	NP_004723.2	O43448	KCAB3_HUMAN			13	1059	-		Prostate(122;0.157)	354					Q4VAW0	Missense_Mutation	SNP	ENST00000303790.2	37	c.1060C>T	CCDS11124.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.083367	0.76642	.	.	ENSG00000170049	ENST00000303790	T	0.25250	1.81	5.39	5.39	0.77823	NADP-dependent oxidoreductase domain (3);	0.052615	0.85682	D	0.000000	T	0.52468	0.1736	M	0.82630	2.6	0.80722	D	1	D	0.76494	0.999	D	0.66351	0.943	T	0.57423	-0.7814	10	0.87932	D	0	.	14.4149	0.67142	0.0:0.0:0.8524:0.1476	.	354	O43448	KCAB3_HUMAN	C	354	ENSP00000302719:R354C	ENSP00000302719:R354C	R	-	1	0	KCNAB3	7767576	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.530000	0.60595	2.701000	0.92244	0.549000	0.68633	CGC		0.577	KCNAB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226974.1	NM_004732		3	14	0	0	0	1	0	3	14				
MAGI1	9223	broad.mit.edu	37	3	65372850	65372851	+	Frame_Shift_Del	DEL	TC	TC	-	rs139764373		TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr3:65372850_65372851delTC	ENST00000330909.8	-	15	2466_2467	c.2467_2468delGA	c.(2467-2469)gaafs	p.E823fs	MAGI1_ENST00000497477.2_Intron|MAGI1_ENST00000483466.1_Frame_Shift_Del_p.E823fs|MAGI1_ENST00000402939.2_Intron	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	823	PDZ 4. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		GGAATTGATTTCTCTCTCTCTC	0.401																																						ENST00000330909.8																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51						c.(2467-2469)afs		membrane associated guanylate kinase, WW and PDZ domain containing 1																																				SO:0001589	frameshift_variant	9223				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding	g.chr3:65372850_65372851delTC	AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"""BAI1-associated protein 1"""	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000330909.8:c.2467_2468delGA	3.37:g.65372860_65372861delTC	ENSP00000331157:p.Glu823fs					MAGI1_ENST00000497477.2_Intron|MAGI1_ENST00000483466.1_Frame_Shift_Del_p.E823fs|MAGI1_ENST00000402939.2_Intron	p.E823fs	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)	15	2466_2467	-		Lung NSC(201;0.0016)	823			PDZ 4.		A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Frame_Shift_Del	DEL	ENST00000330909.8	37	c.2467_2468delGA	CCDS33781.1																																																																																				0.401	MAGI1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000349127.2	NM_004742		7	71						7	71	---	---	---	---
FAM177A1P1	728710	broad.mit.edu	37	4	99877753	99877753	+	RNA	DEL	A	A	-	rs33952764|rs373692463|rs59266273	byFrequency	TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr4:99877753delA	ENST00000583654.1	+	0	237																											actctgtctcaaaaaaaaaaa	0.448													|||unknown(HR)	2780	0.555112	0.6649	0.4769	5008	,	,		14742	0.6627		0.4404	False		,,,				2504	0.4693					ENST00000583654.1																			0																																																			0							g.chr4:99877753delA																													4.37:g.99877753delA														0	237	+									RNA	DEL	ENST00000583654.1	37																																																																																						0.448	RP11-571L19.7-001	KNOWN	non_canonical_other|not_organism_supported|basic	antisense	antisense	OTTHUMT00000441787.1			3	4						3	4	---	---	---	---
RP11-254I22.1	0	broad.mit.edu	37	5	95414786	95414787	+	lincRNA	INS	-	-	TAAAA	rs34328926|rs80243332|rs60523167|rs5869706	byFrequency	TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr5:95414786_95414787insTAAAA	ENST00000507997.1	+	0	87				CTD-2337A12.1_ENST00000502645.2_RNA|MIR583_ENST00000384846.1_RNA|CTD-2337A12.1_ENST00000511775.1_RNA																							acccatgcacttaaagttaaaa	0.361														2975	0.59405	0.7156	0.4813	5008	,	,		22499	0.495		0.6362	False		,,,				2504	0.5685					ENST00000507997.1																			0																	2353,1165		895,563,301						0.2	0.1		dbSNP_114	36	3841,2837		1367,1107,865	no	intergenic				2262,1670,1166	A1A1,A1R,RR		42.4828,33.1154,39.2507				6194,4002						0							g.chr5:95414786_95414787insTAAAA																													5.37:g.95414786_95414787insTAAAA						CTD-2337A12.1_ENST00000511775.1_RNA|CTD-2337A12.1_ENST00000502645.2_RNA								0	87	+									RNA	INS	ENST00000507997.1	37																																																																																						0.361	RP11-254I22.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000370578.1			4	4						4	4	---	---	---	---
SOX4	6659	broad.mit.edu	37	6	21595634	21595636	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr6:21595634_21595636delAGA	ENST00000244745.1	+	1	1663_1665	c.869_871delAGA	c.(868-873)gagaag>gag	p.K292del	SOX4_ENST00000543472.1_In_Frame_Del_p.K292del	NM_003107.2	NP_003098.1	Q06945	SOX4_HUMAN	SRY (sex determining region Y)-box 4	292					ascending aorta morphogenesis (GO:0035910)|atrial septum primum morphogenesis (GO:0003289)|canonical Wnt signaling pathway (GO:0060070)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac ventricle formation (GO:0003211)|cellular response to glucose stimulus (GO:0071333)|DNA damage response, detection of DNA damage (GO:0042769)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|endocrine pancreas development (GO:0031018)|glial cell development (GO:0021782)|glial cell proliferation (GO:0014009)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|kidney morphogenesis (GO:0060993)|limb bud formation (GO:0060174)|mitral valve morphogenesis (GO:0003183)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of protein ubiquitination (GO:0031397)|neural tube formation (GO:0001841)|neuroepithelial cell differentiation (GO:0060563)|noradrenergic neuron differentiation (GO:0003357)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin secretion (GO:0032024)|positive regulation of N-terminal peptidyl-lysine acetylation (GO:2000761)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|positive regulation of Wnt signaling pathway (GO:0030177)|pro-B cell differentiation (GO:0002328)|protein stabilization (GO:0050821)|regulation of protein stability (GO:0031647)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|spinal cord development (GO:0021510)|spinal cord motor neuron differentiation (GO:0021522)|sympathetic nervous system development (GO:0048485)|T cell differentiation (GO:0030217)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			kidney(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	6	Ovarian(93;0.163)		all cancers(50;0.0751)|Epithelial(50;0.155)			CACCTGGCGGAGAAGAAGGTGAA	0.754																																						ENST00000244745.1																			0				kidney(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	6						c.(868-873)gag>g		SRY (sex determining region Y)-box 4																																				SO:0001651	inframe_deletion	6659				canonical Wnt receptor signaling pathway|cardiac ventricle formation|cellular response to glucose stimulus|DNA damage response, detection of DNA damage|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|glial cell development|glial cell proliferation|limb bud formation|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein export from nucleus|negative regulation of protein ubiquitination|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|positive regulation of insulin secretion|positive regulation of N-terminal peptidyl-lysine acetylation|positive regulation of translation|pro-B cell differentiation|protein stabilization|skeletal system development|spinal cord motor neuron differentiation|sympathetic nervous system development|T cell differentiation	mitochondrion|nucleus	core promoter sequence-specific DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity	g.chr6:21595634_21595636delAGA	AF070669	CCDS4547.1	6p22.3	2008-02-05			ENSG00000124766	ENSG00000124766		"""SRY (sex determining region Y)-boxes"""	11200	protein-coding gene	gene with protein product		184430				8268656, 9730625	Standard	NM_003107		Approved		uc003ndi.3	Q06945	OTTHUMG00000016101	ENST00000244745.1:c.869_871delAGA	6.37:g.21595637_21595639delAGA	ENSP00000244745:p.Lys292del					SOX4_ENST00000543472.1_In_Frame_Del_p.EK290del	p.EK290del	NM_003107.2	NP_003098.1	Q06945	SOX4_HUMAN	all cancers(50;0.0751)|Epithelial(50;0.155)		1	1663_1665	+	Ovarian(93;0.163)		290						In_Frame_Del	DEL	ENST00000244745.1	37	c.869_871delAGA	CCDS4547.1																																																																																				0.754	SOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043301.1	NM_003107		7	18						7	18	---	---	---	---
ZMIZ2	83637	broad.mit.edu	37	7	44805118	44805119	+	Frame_Shift_Ins	INS	-	-	C			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr7:44805118_44805119insC	ENST00000309315.4	+	16	2305_2306	c.2182_2183insC	c.(2182-2184)gccfs	p.A728fs	ZMIZ2_ENST00000433667.1_Frame_Shift_Ins_p.A696fs|ZMIZ2_ENST00000265346.7_Frame_Shift_Ins_p.A702fs|ZMIZ2_ENST00000441627.1_Frame_Shift_Ins_p.A728fs|ZMIZ2_ENST00000413916.1_Frame_Shift_Ins_p.A670fs	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	728	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CCCCGGCGCTGCCCCCTTTGCC	0.698																																					NSCLC(20;604 852 1948 16908 50522)	ENST00000309315.4																			0				breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(2182-2184)cccfs		zinc finger, MIZ-type containing 2			,	11,3615		0,11,1802					,	-2.1	0.1			11	52,7754		0,52,3851	no	frameshift,frameshift	ZMIZ2	NM_174929.2,NM_031449.3	,	0,63,5653	A1A1,A1R,RR		0.6662,0.3034,0.5511	,	,		63,11369				SO:0001589	frameshift_variant	83637				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding	g.chr7:44805118_44805119insC	AK090415	CCDS43576.1, CCDS43577.1, CCDS75591.1	7p13	2009-11-06			ENSG00000122515	ENSG00000122515		"""Zinc fingers, MIZ-type"""	22229	protein-coding gene	gene with protein product		611196					Standard	XM_005249866		Approved	KIAA1886, hZIMP7, ZIMP7, DKFZp761I2123, NET27	uc003tlr.3	Q8NF64	OTTHUMG00000155817	ENST00000309315.4:c.2187dupC	7.37:g.44805123_44805123dupC	ENSP00000311778:p.Ala728fs					ZMIZ2_ENST00000441627.1_Frame_Shift_Ins_p.P728fs|ZMIZ2_ENST00000433667.1_Frame_Shift_Ins_p.P696fs|ZMIZ2_ENST00000413916.1_Frame_Shift_Ins_p.P670fs|ZMIZ2_ENST00000265346.7_Frame_Shift_Ins_p.P702fs	p.P728fs	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN			16	2305_2306	+			728			Pro-rich.		A4D2K7|D3DVL1|O94790|Q0VGB4|Q659A8|Q6JKL5|Q8WTX8|Q96Q01|Q9BQH7	Frame_Shift_Ins	INS	ENST00000309315.4	37	c.2182_2183insC	CCDS43576.1																																																																																				0.698	ZMIZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341790.1	NM_031449		6	12						6	12	---	---	---	---
CHORDC2P	317775	broad.mit.edu	37	14	90203658	90203660	+	RNA	DEL	CTC	CTC	-	rs10140344|rs376782547	byFrequency	TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr14:90203658_90203660delCTC	ENST00000555070.1	-	0	170																											TATTTCTTTTCTCTTTCTTTCtt	0.355																																						ENST00000555070.1																			0																																																			0							g.chr14:90203658_90203660delCTC																													14.37:g.90203658_90203660delCTC														0	170	-									RNA	DEL	ENST00000555070.1	37																																																																																						0.355	RP11-33N16.3-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000411023.1			5	6						5	6	---	---	---	---
CDC27	996	broad.mit.edu	37	17	45247389	45247389	+	Frame_Shift_Del	DEL	T	T	-			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr17:45247389delT	ENST00000066544.3	-	4	364	c.271delA	c.(271-273)atcfs	p.I91fs	RP5-867C24.5_ENST00000572193.1_RNA|CDC27_ENST00000531206.1_Frame_Shift_Del_p.I91fs|CDC27_ENST00000527547.1_Frame_Shift_Del_p.I91fs|CDC27_ENST00000528748.1_5'UTR|CDC27_ENST00000446365.2_Frame_Shift_Del_p.I30fs	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	91					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)	p.I91fs*54(1)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						CCAGATAAGATTTGTTCCCCT	0.323																																						ENST00000066544.3																			1	Deletion - Frameshift(1)	p.I91fs*54(1)	ovary(1)	NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						c.(271-273)tcfs		cell division cycle 27							84.0	94.0	91.0					17																	45247389		2203	4299	6502	SO:0001589	frameshift_variant	996				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	g.chr17:45247389delT	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.271delA	17.37:g.45247389delT	ENSP00000066544:p.Ile91fs					CDC27_ENST00000527547.1_Frame_Shift_Del_p.I91fs|CDC27_ENST00000446365.2_Frame_Shift_Del_p.I30fs|CDC27_ENST00000528748.1_5'UTR|CDC27_ENST00000531206.1_Frame_Shift_Del_p.I91fs|RP5-867C24.5_ENST00000572193.1_RNA	p.I91fs	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN			4	364	-			91					G3V1C4|Q16349|Q96F35	Frame_Shift_Del	DEL	ENST00000066544.3	37	c.271delA	CCDS11509.1																																																																																				0.323	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			8	229						8	229	---	---	---	---
