#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
OR7E24	26648	broad.mit.edu	37	19	9361848	9361848	+	Silent	SNP	G	G	A			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr19:9361848G>A	ENST00000456448.1	+	1	243	c.129G>A	c.(127-129)ccG>ccA	p.P43P		NM_001079935.1	NP_001073404.1	Q6IFN5	O7E24_HUMAN	olfactory receptor, family 7, subfamily E, member 24	43						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						AACTGCAGCCGGTCCTCGCTG	0.572																																						ENST00000456448.1																			0				endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						c.(127-129)ccG>ccA		olfactory receptor, family 7, subfamily E, member 24							37.0	37.0	37.0					19																	9361848		2201	4294	6495	SO:0001819	synonymous_variant	26648				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9361848G>A	Y10529	CCDS45955.1	19p13.2	2012-08-09	2004-03-04	2004-03-05		ENSG00000237521		"""GPCR / Class A : Olfactory receptors"""	8396	protein-coding gene	gene with protein product			"""olfactory receptor, family 7, subfamily E, member 24 pseudogene"""	OR7E24P		9268701	Standard	NM_001079935		Approved	OR19-8, HSHT2, OR7E24Q	uc002mlb.1	Q6IFN5		ENST00000456448.1:c.129G>A	19.37:g.9361848G>A							p.P43P	NM_001079935.1	NP_001073404.1	Q6IFN5	O7E24_HUMAN			1	243	+			43					B9EJD9|Q9UPJ1	Silent	SNP	ENST00000456448.1	37	c.129G>A	CCDS45955.1																																																																																				0.572	OR7E24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449006.1			21	46	0	0	0	1	0	21	46				
MACF1	23499	broad.mit.edu	37	1	39750786	39750786	+	Missense_Mutation	SNP	C	C	G			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr1:39750786C>G	ENST00000372915.3	+	11	1265	c.1178C>G	c.(1177-1179)cCt>cGt	p.P393R	MACF1_ENST00000317713.7_Missense_Mutation_p.P393R|MACF1_ENST00000539005.1_Missense_Mutation_p.P393R|MACF1_ENST00000564288.1_Missense_Mutation_p.P388R|MACF1_ENST00000545844.1_Missense_Mutation_p.P393R|MACF1_ENST00000361689.2_Missense_Mutation_p.P393R|MACF1_ENST00000567887.1_Missense_Mutation_p.P425R			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	393					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ATTAAACTGCCTCAAGGTTAT	0.448																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(1162-1164)cCt>cGt		microtubule-actin crosslinking factor 1							177.0	170.0	172.0					1																	39750786		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39750786C>G	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.1178C>G	1.37:g.39750786C>G	ENSP00000362006:p.Pro393Arg					MACF1_ENST00000539005.1_Missense_Mutation_p.P393R|MACF1_ENST00000545844.1_Missense_Mutation_p.P393R|MACF1_ENST00000567887.1_Missense_Mutation_p.P425R|MACF1_ENST00000361689.2_Missense_Mutation_p.P393R|MACF1_ENST00000317713.7_Missense_Mutation_p.P393R|MACF1_ENST00000372915.3_Missense_Mutation_p.P393R	p.P388R			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		12	1940	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	393					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.1163C>G		.	.	.	.	.	.	.	.	.	.	C	24.9	4.586748	0.86851	.	.	ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000524432;ENST00000530262;ENST00000372900	T;T;T;T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37;-0.37;-0.37;-0.37	5.82	5.82	0.92795	.	.	.	.	.	T	0.81254	0.4784	M	0.72894	2.215	0.80722	D	1	B;D	0.69078	0.0;0.997	B;D	0.65874	0.001;0.939	T	0.80051	-0.1544	9	0.48119	T	0.1	.	20.0953	0.97838	0.0:1.0:0.0:0.0	.	393;358	F8W8Q1;Q9UPN3-3	.;.	R	393;393;393;393;393;351;542;553	ENSP00000439537:P393R;ENSP00000362006:P393R;ENSP00000354573:P393R;ENSP00000313438:P393R;ENSP00000444364:P393R;ENSP00000435070:P351R;ENSP00000437059:P542R	ENSP00000313438:P393R	P	+	2	0	MACF1	39523373	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.767000	0.95098	0.655000	0.94253	CCT		0.448	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		26	40	0	0	0	1	0	26	40				
CS	1431	broad.mit.edu	37	12	56667543	56667543	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr12:56667543G>A	ENST00000351328.3	-	10	1248	c.1058C>T	c.(1057-1059)aCt>aTt	p.T353I	CS_ENST00000542324.2_Missense_Mutation_p.T340I|CS_ENST00000548567.1_Missense_Mutation_p.T287I	NM_004077.2	NP_004068.2	O75390	CISY_HUMAN	citrate synthase	353					carbohydrate metabolic process (GO:0005975)|cellular carbohydrate metabolic process (GO:0044262)|cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	citrate (Si)-synthase activity (GO:0004108)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	17		Myeloproliferative disorder(1001;0.000374)		BRCA - Breast invasive adenocarcinoma(357;6.17e-07)		TCGCGGATCAGTCTTCCTTAG	0.428																																						ENST00000548567.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	17						c.(859-861)aCt>aTt		citrate synthase							111.0	102.0	105.0					12																	56667543		2203	4300	6503	SO:0001583	missense	1431				cellular carbohydrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	citrate (Si)-synthase activity	g.chr12:56667543G>A		CCDS8913.1	12q13.2	2012-10-02				ENSG00000062485	2.3.3.1		2422	protein-coding gene	gene with protein product		118950					Standard	NM_004077		Approved		uc001sks.1	O75390	OTTHUMG00000170344	ENST00000351328.3:c.1058C>T	12.37:g.56667543G>A	ENSP00000342056:p.Thr353Ile					CS_ENST00000542324.2_Missense_Mutation_p.T340I|CS_ENST00000351328.3_Missense_Mutation_p.T353I	p.T287I			O75390	CISY_HUMAN		BRCA - Breast invasive adenocarcinoma(357;6.17e-07)	11	1330	-		Myeloproliferative disorder(1001;0.000374)	353					Q71UT9|Q7KZH0|Q96FZ8|Q9BWN8	Missense_Mutation	SNP	ENST00000351328.3	37	c.860C>T	CCDS8913.1	.	.	.	.	.	.	.	.	.	.	G	33	5.264522	0.95399	.	.	ENSG00000062485	ENST00000548567;ENST00000351328;ENST00000548746;ENST00000542324	.	.	.	5.69	5.69	0.88448	Citrate synthase-like, core (1);	0.000000	0.85682	D	0.000000	D	0.87589	0.6215	H	0.97291	3.975	0.80722	D	1	D;D;D	0.58970	0.971;0.971;0.984	P;P;P	0.60012	0.867;0.794;0.867	D	0.91214	0.5001	9	0.72032	D	0.01	-16.4483	18.9789	0.92748	0.0:0.0:1.0:0.0	.	340;308;353	B4DJV2;B3KTN4;O75390	.;.;CISY_HUMAN	I	287;353;26;340	.	ENSP00000342056:T353I	T	-	2	0	CS	54953810	1.000000	0.71417	0.999000	0.59377	0.939000	0.58152	9.014000	0.93635	2.865000	0.98341	0.655000	0.94253	ACT		0.428	CS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408588.2	NM_004077		26	43	0	0	0	1	0	26	43				
ELMO1	9844	broad.mit.edu	37	7	36917639	36917639	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr7:36917639G>A	ENST00000310758.4	-	19	2445	c.1798C>T	c.(1798-1800)Ccc>Tcc	p.P600S	ELMO1_ENST00000396040.2_Missense_Mutation_p.P120S|ELMO1_ENST00000442504.1_Missense_Mutation_p.P600S|ELMO1_ENST00000396045.3_Missense_Mutation_p.P120S|ELMO1_ENST00000448602.1_Missense_Mutation_p.P600S|ELMO1_ENST00000341056.3_Missense_Mutation_p.P302S	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	600	PH.				actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phagocytosis, engulfment (GO:0006911)|Rac protein signal transduction (GO:0016601)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						GAATCGTGGGGCACTTCTCCC	0.478																																						ENST00000310758.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						c.(1798-1800)Ccc>Tcc		engulfment and cell motility 1							107.0	90.0	96.0					7																	36917639		2203	4300	6503	SO:0001583	missense	9844				actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding	g.chr7:36917639G>A	AF398885	CCDS5449.1, CCDS5450.1	7p14.1	2012-07-10	2006-01-20		ENSG00000155849	ENSG00000155849		"""Engulfment and cell motility proteins"""	16286	protein-coding gene	gene with protein product		606420	"""engulfment and cell motility 1 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_001039459		Approved	KIAA0281, CED12, ELMO-1, CED-12	uc003tfk.2	Q92556	OTTHUMG00000023701	ENST00000310758.4:c.1798C>T	7.37:g.36917639G>A	ENSP00000312185:p.Pro600Ser					ELMO1_ENST00000442504.1_Missense_Mutation_p.P600S|ELMO1_ENST00000341056.3_Missense_Mutation_p.P302S|ELMO1_ENST00000448602.1_Missense_Mutation_p.P600S|ELMO1_ENST00000396040.2_Missense_Mutation_p.P120S|ELMO1_ENST00000396045.3_Missense_Mutation_p.P120S	p.P600S	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN			19	2445	-			600			PH.		A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Missense_Mutation	SNP	ENST00000310758.4	37	c.1798C>T	CCDS5449.1	.	.	.	.	.	.	.	.	.	.	G	18.16	3.562791	0.65538	.	.	ENSG00000155849	ENST00000341056;ENST00000396045;ENST00000310758;ENST00000361912;ENST00000396040;ENST00000442504;ENST00000448602	T;T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87;0.87	5.81	5.81	0.92471	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.160367	0.56097	D	0.000024	T	0.31827	0.0809	L	0.28115	0.83	0.80722	D	1	B	0.10296	0.003	B	0.06405	0.002	T	0.18681	-1.0329	10	0.07644	T	0.81	.	20.0833	0.97789	0.0:0.0:1.0:0.0	.	600	Q92556	ELMO1_HUMAN	S	302;120;600;504;120;600;600	ENSP00000342142:P302S;ENSP00000379360:P120S;ENSP00000312185:P600S;ENSP00000379355:P120S;ENSP00000406952:P600S;ENSP00000394458:P600S	ENSP00000312185:P600S	P	-	1	0	ELMO1	36884164	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.479000	0.81095	2.756000	0.94617	0.655000	0.94253	CCC		0.478	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219830.4	NM_130442		10	14	0	0	0	1	0	10	14				
IGLV4-3	28786	broad.mit.edu	37	22	23214159	23214159	+	RNA	SNP	G	G	C			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr22:23214159G>C	ENST00000390318.2	+	0	348									immunoglobulin lambda variable 4-3																		GTCTGACGATGAGGCTGAGTA	0.587																																						ENST00000390318.2																			0																				54.0	56.0	55.0					22																	23214159		2075	4192	6267			28786							g.chr22:23214159G>C	X57828		22q11.2	2012-02-08			ENSG00000211672	ENSG00000211672		"""Immunoglobulins / IGL locus"""	5919	other	immunoglobulin gene							Standard	NG_000002		Approved				OTTHUMG00000151244		22.37:g.23214159G>C														0	348	+									RNA	SNP	ENST00000390318.2	37																																																																																						0.587	IGLV4-3-001	KNOWN	basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000321849.1	NG_000002		23	48	0	0	0	1	0	23	48				
ADAM11	4185	broad.mit.edu	37	17	42855535	42855535	+	Missense_Mutation	SNP	A	A	G			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr17:42855535A>G	ENST00000200557.6	+	25	2370	c.2201A>G	c.(2200-2202)aAc>aGc	p.N734S	ADAM11_ENST00000535346.1_Missense_Mutation_p.N534S	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11	734					integrin-mediated signaling pathway (GO:0007229)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				AGCGGCACCAACATCATCATT	0.622																																						ENST00000200557.6																			0				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(2200-2202)aAc>aGc		ADAM metallopeptidase domain 11							67.0	48.0	54.0					17																	42855535		2203	4300	6503	SO:0001583	missense	4185				integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr17:42855535A>G	D17390	CCDS11486.1	17q21.3	2014-08-12	2005-08-18		ENSG00000073670			"""ADAM metallopeptidase domain containing"""	189	protein-coding gene	gene with protein product	"""metalloproteinase-like, disintegrin-like, cysteine-rich protein"""	155120	"""a disintegrin and metalloproteinase domain 11"""	MDC		8252040	Standard	XM_005257373		Approved		uc002ihh.3	O75078	OTTHUMG00000179038	ENST00000200557.6:c.2201A>G	17.37:g.42855535A>G	ENSP00000200557:p.Asn734Ser					ADAM11_ENST00000535346.1_Missense_Mutation_p.N534S	p.N734S	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN			25	2370	+		Prostate(33;0.0959)	734					Q14808|Q14809|Q14810	Missense_Mutation	SNP	ENST00000200557.6	37	c.2201A>G	CCDS11486.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.209737	0.79240	.	.	ENSG00000073670	ENST00000200557;ENST00000535346	T;T	0.02085	4.46;4.88	4.83	4.83	0.62350	.	0.108661	0.64402	D	0.000013	T	0.07052	0.0179	L	0.56769	1.78	0.58432	D	0.999996	P;D	0.65815	0.95;0.995	P;P	0.58013	0.618;0.831	T	0.51228	-0.8732	10	0.21014	T	0.42	.	13.6739	0.62443	1.0:0.0:0.0:0.0	.	534;734	B4DKD2;O75078	.;ADA11_HUMAN	S	734;534	ENSP00000200557:N734S;ENSP00000443773:N534S	ENSP00000200557:N734S	N	+	2	0	ADAM11	40211061	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.292000	0.78731	1.937000	0.56155	0.459000	0.35465	AAC		0.622	ADAM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444531.1	NM_002390		11	28	0	0	0	1	0	11	28				
BBS12	166379	broad.mit.edu	37	4	123663261	123663261	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr4:123663261G>A	ENST00000314218.3	+	2	407	c.214G>A	c.(214-216)Gaa>Aaa	p.E72K	BBS12_ENST00000542236.1_Missense_Mutation_p.E72K	NM_152618.2	NP_689831.2	Q6ZW61	BBS12_HUMAN	Bardet-Biedl syndrome 12	72					cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|eating behavior (GO:0042755)|intraciliary transport (GO:0042073)|negative regulation of fat cell differentiation (GO:0045599)|photoreceptor cell maintenance (GO:0045494)	cilium (GO:0005929)	ATP binding (GO:0005524)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						ACTTCTCAATGAAGCAGTTCA	0.368									Bardet-Biedl syndrome																													ENST00000542236.1																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						c.(214-216)Gaa>Aaa		Bardet-Biedl syndrome 12							107.0	107.0	107.0					4																	123663261		2203	4300	6503	SO:0001583	missense	166379	Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	cellular protein metabolic process	cilium	ATP binding	g.chr4:123663261G>A	AK123553	CCDS3728.1	4q27	2014-06-17	2006-12-13	2006-12-13	ENSG00000181004	ENSG00000181004		"""Heat Shock Proteins / Chaperonins"""	26648	protein-coding gene	gene with protein product		610683	"""chromosome 4 open reading frame 24"""	C4orf24		17160889	Standard	NM_001178007		Approved	FLJ35630, FLJ41559	uc003ieu.3	Q6ZW61	OTTHUMG00000133070	ENST00000314218.3:c.214G>A	4.37:g.123663261G>A	ENSP00000319062:p.Glu72Lys					BBS12_ENST00000314218.3_Missense_Mutation_p.E72K	p.E72K	NM_001178007.1	NP_001171478.1	Q6ZW61	BBS12_HUMAN			3	595	+			72					D3DNX5|Q7Z342|Q7Z482|Q8NAB8	Missense_Mutation	SNP	ENST00000314218.3	37	c.214G>A	CCDS3728.1	.	.	.	.	.	.	.	.	.	.	G	32	5.161453	0.94727	.	.	ENSG00000181004	ENST00000314218;ENST00000542236;ENST00000433287	T;T;T	0.72167	-0.63;-0.63;-0.63	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	D	0.84092	0.5396	M	0.71581	2.175	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	D	0.85476	0.1176	10	0.72032	D	0.01	-2.9706	19.1348	0.93422	0.0:0.0:1.0:0.0	.	72	Q6ZW61	BBS12_HUMAN	K	72	ENSP00000319062:E72K;ENSP00000438273:E72K;ENSP00000398912:E72K	ENSP00000319062:E72K	E	+	1	0	BBS12	123882711	1.000000	0.71417	0.964000	0.40570	0.990000	0.78478	6.873000	0.75541	2.588000	0.87417	0.650000	0.86243	GAA		0.368	BBS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256710.1	NM_152618		24	32	0	0	0	1	0	24	32				
ZNF583	147949	broad.mit.edu	37	19	56934898	56934898	+	Missense_Mutation	SNP	A	A	G			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr19:56934898A>G	ENST00000333201.9	+	5	1081	c.871A>G	c.(871-873)Act>Gct	p.T291A	ZNF583_ENST00000291598.7_Missense_Mutation_p.T291A|ZNF583_ENST00000585612.1_3'UTR	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN	zinc finger protein 583	291					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		GAGAGTTCATACTGGAGAGAA	0.423																																						ENST00000333201.9																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26						c.(871-873)Act>Gct		zinc finger protein 583							64.0	67.0	66.0					19																	56934898		2203	4300	6503	SO:0001583	missense	147949				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56934898A>G	AK055592	CCDS12943.1	19q13.43	2013-09-20			ENSG00000198440	ENSG00000198440		"""Zinc fingers, C2H2-type"", ""-"""	26427	protein-coding gene	gene with protein product							Standard	NM_152478		Approved	FLJ31030	uc010ygl.1	Q96ND8	OTTHUMG00000168874	ENST00000333201.9:c.871A>G	19.37:g.56934898A>G	ENSP00000388502:p.Thr291Ala					ZNF583_ENST00000291598.7_Missense_Mutation_p.T291A|ZNF583_ENST00000585612.1_3'UTR	p.T291A	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN		GBM - Glioblastoma multiforme(193;0.0564)	5	1081	+		Colorectal(82;0.000256)|Ovarian(87;0.243)	291					O14850|Q2NKK3	Missense_Mutation	SNP	ENST00000333201.9	37	c.871A>G	CCDS12943.1	.	.	.	.	.	.	.	.	.	.	A	17.50	3.405848	0.62288	.	.	ENSG00000198440	ENST00000291598;ENST00000333201	T;T	0.26518	1.73;1.73	4.43	3.4	0.38934	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.43919	D	0.000519	T	0.31796	0.0808	L	0.47716	1.5	0.36782	D	0.884395	P	0.47302	0.893	P	0.54140	0.743	T	0.20472	-1.0274	9	.	.	.	.	8.1304	0.31024	0.6777:0.0:0.0:0.3223	.	291	Q96ND8	ZN583_HUMAN	A	291	ENSP00000291598:T291A;ENSP00000388502:T291A	.	T	+	1	0	ZNF583	61626710	0.017000	0.18338	0.667000	0.29798	0.952000	0.60782	2.680000	0.46918	0.829000	0.34733	0.379000	0.24179	ACT		0.423	ZNF583-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401453.1	NM_152478		8	38	0	0	0	1	0	8	38				
CCDC81	60494	broad.mit.edu	37	11	86133744	86133744	+	Missense_Mutation	SNP	G	G	A	rs148799450		TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr11:86133744G>A	ENST00000445632.2	+	15	2218	c.1946G>A	c.(1945-1947)cGg>cAg	p.R649Q	CCDC81_ENST00000354755.1_Missense_Mutation_p.R559Q|CCDC81_ENST00000278487.3_Missense_Mutation_p.R384Q|CCDC81_ENST00000528728.1_Missense_Mutation_p.R384Q	NM_001156474.1	NP_001149946.1	Q6ZN84	CCD81_HUMAN	coiled-coil domain containing 81	649										kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	20		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)				CCTGGCTCCCGGTTGCTTGTG	0.507																																						ENST00000278487.3																			0				kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	20						c.(1150-1152)cGg>cAg		coiled-coil domain containing 81		G	GLN/ARG,GLN/ARG	1,4403	2.1+/-5.4	0,1,2201	70.0	59.0	63.0		1946,1676	2.9	0.0	11	dbSNP_134	63	0,8598		0,0,4299	no	missense,missense	CCDC81	NM_001156474.1,NM_021827.4	43,43	0,1,6500	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	649/653,559/563	86133744	1,13001	2202	4299	6501	SO:0001583	missense	60494							g.chr11:86133744G>A	AK131331	CCDS8276.1, CCDS53691.1	11q14.2	2006-03-09			ENSG00000149201	ENSG00000149201			26281	protein-coding gene	gene with protein product							Standard	NM_001156474		Approved	FLJ16339, FLJ23514	uc001pbx.2	Q6ZN84	OTTHUMG00000167213	ENST00000445632.2:c.1946G>A	11.37:g.86133744G>A	ENSP00000415528:p.Arg649Gln					CCDC81_ENST00000354755.1_Missense_Mutation_p.R559Q|CCDC81_ENST00000445632.2_Missense_Mutation_p.R649Q|CCDC81_ENST00000528728.1_Missense_Mutation_p.R384Q	p.R384Q			Q6ZN84	CCD81_HUMAN			14	2230	+		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)	649					A0AVL7|Q53FW3|Q9H5E5	Missense_Mutation	SNP	ENST00000445632.2	37	c.1151G>A	CCDS53691.1	.	.	.	.	.	.	.	.	.	.	G	13.85	2.361374	0.41801	2.27E-4	0.0	ENSG00000149201	ENST00000354755;ENST00000278487;ENST00000445632;ENST00000528728	T;T;T;T	0.30981	1.51;1.51;1.51;1.51	5.84	2.91	0.33838	.	0.392641	0.24647	N	0.036756	T	0.51517	0.1679	M	0.77103	2.36	0.09310	N	1	D;D;B	0.89917	1.0;1.0;0.392	D;D;B	0.91635	0.999;0.999;0.039	T	0.39461	-0.9613	9	.	.	.	-2.4837	7.9868	0.30216	0.074:0.0:0.6432:0.2828	.	384;649;559	Q6ZN84-3;Q6ZN84;Q6ZN84-2	.;CCD81_HUMAN;.	Q	559;384;649;384	ENSP00000346800:R559Q;ENSP00000278487:R384Q;ENSP00000415528:R649Q;ENSP00000437165:R384Q	.	R	+	2	0	CCDC81	85811392	0.320000	0.24616	0.023000	0.16930	0.007000	0.05969	3.423000	0.52756	0.356000	0.24157	-0.150000	0.13652	CGG		0.507	CCDC81-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393756.1	NM_021827		13	5	0	0	0	1	0	13	5				
GCN1L1	10985	broad.mit.edu	37	12	120591081	120591081	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr12:120591081C>T	ENST00000300648.6	-	33	4010	c.3998G>A	c.(3997-3999)aGt>aAt	p.S1333N	MIR4498_ENST00000577599.1_RNA	NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1333					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTTGGGGTCACTCTTGTCCAG	0.592																																						ENST00000300648.6																			0				NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94						c.(3997-3999)aGt>aAt		GCN1 general control of amino-acid synthesis 1-like 1 (yeast)							73.0	81.0	78.0					12																	120591081		2101	4206	6307	SO:0001583	missense	10985				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	g.chr12:120591081C>T	U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"""GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"""			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.3998G>A	12.37:g.120591081C>T	ENSP00000300648:p.Ser1333Asn						p.S1333N	NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN			33	4010	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		1333					A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Missense_Mutation	SNP	ENST00000300648.6	37	c.3998G>A	CCDS41847.1	.	.	.	.	.	.	.	.	.	.	C	12.57	1.976955	0.34848	.	.	ENSG00000089154	ENST00000300648	T	0.64618	-0.11	5.7	5.7	0.88788	Armadillo-like helical (1);Armadillo-type fold (2);	0.041358	0.85682	D	0.000000	T	0.45994	0.1370	N	0.16833	0.445	0.58432	D	0.999991	B	0.06786	0.001	B	0.08055	0.003	T	0.33266	-0.9875	10	0.27082	T	0.32	.	14.0443	0.64695	0.0:0.9282:0.0:0.0718	.	1333	Q92616	GCN1L_HUMAN	N	1333	ENSP00000300648:S1333N	ENSP00000300648:S1333N	S	-	2	0	GCN1L1	119075464	0.997000	0.39634	0.999000	0.59377	0.864000	0.49448	2.895000	0.48648	2.711000	0.92665	0.561000	0.74099	AGT		0.592	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1			17	24	0	0	0	1	0	17	24				
NEMF	9147	broad.mit.edu	37	14	50267223	50267223	+	Missense_Mutation	SNP	A	A	T			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr14:50267223A>T	ENST00000298310.5	-	23	2736	c.2287T>A	c.(2287-2289)Tct>Act	p.S763T	NEMF_ENST00000556925.1_5'UTR|NEMF_ENST00000545773.1_Missense_Mutation_p.S721T|NEMF_ENST00000546046.1_Missense_Mutation_p.S742T			O60524	NEMF_HUMAN	nuclear export mediator factor	763					nuclear export (GO:0051168)	nucleus (GO:0005634)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						TCACCAACAGAATCCTGATCT	0.388																																						ENST00000298310.5																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						c.(2287-2289)Tct>Act		nuclear export mediator factor							170.0	152.0	159.0					14																	50267223		2202	4300	6502	SO:0001583	missense	9147					cytoplasm|nucleus		g.chr14:50267223A>T	AF039687	CCDS9694.1	14q21.3	2012-11-19	2011-01-31	2011-01-31	ENSG00000165525	ENSG00000165525			10663	protein-coding gene	gene with protein product		608378	"""serologically defined colon cancer antigen 1"""	SDCCAG1		9610721, 10575219	Standard	XR_429334		Approved	NY-CO-1, FLJ10051	uc001wxc.3	O60524	OTTHUMG00000170857	ENST00000298310.5:c.2287T>A	14.37:g.50267223A>T	ENSP00000298310:p.Ser763Thr					NEMF_ENST00000546046.1_Missense_Mutation_p.S742T|NEMF_ENST00000556925.1_5'UTR|NEMF_ENST00000545773.1_Missense_Mutation_p.S721T	p.S763T			O60524	NEMF_HUMAN			23	2736	-			763					A0JLQ3|B3KSK1|B4DDL3|B4DHA9|B4E3F3|Q32Q66|Q8WW70|Q9NWG1	Missense_Mutation	SNP	ENST00000298310.5	37	c.2287T>A	CCDS9694.1	.	.	.	.	.	.	.	.	.	.	A	5.294	0.239654	0.10023	.	.	ENSG00000165525	ENST00000298310;ENST00000545773;ENST00000546046;ENST00000534912;ENST00000555970	T;T;T;T	0.44881	0.92;0.91;0.92;0.91	5.47	-0.4	0.12411	.	0.701355	0.14628	N	0.307983	T	0.19127	0.0459	N	0.19112	0.55	0.09310	N	1	B;B;B;B	0.16802	0.019;0.001;0.014;0.001	B;B;B;B	0.18561	0.022;0.003;0.01;0.001	T	0.16571	-1.0398	10	0.13470	T	0.59	-2.599	1.8952	0.03256	0.1666:0.1207:0.4084:0.3043	.	742;738;721;763	O60524-3;O60524-5;O60524-4;O60524	.;.;.;NEMF_HUMAN	T	763;721;742;535;721	ENSP00000298310:S763T;ENSP00000438309:S721T;ENSP00000441016:S742T;ENSP00000452540:S721T	ENSP00000298310:S763T	S	-	1	0	NEMF	49336973	0.044000	0.20184	0.159000	0.22649	0.783000	0.44284	0.810000	0.27183	0.185000	0.20105	-0.397000	0.06425	TCT		0.388	NEMF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410798.1	NM_004713		8	22	0	0	0	1	0	8	22				
ZNF502	91392	broad.mit.edu	37	3	44763469	44763469	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr3:44763469C>T	ENST00000296091.4	+	4	1416	c.1160C>T	c.(1159-1161)gCg>gTg	p.A387V	ZNF502_ENST00000436624.2_Missense_Mutation_p.A387V|ZNF502_ENST00000449836.1_Missense_Mutation_p.A387V	NM_001134440.1|NM_001282880.1|NM_033210.4	NP_001127912.1|NP_001269809.1|NP_149987.2	Q8TBZ5	ZN502_HUMAN	zinc finger protein 502	387					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)		TGTGGCAAAGCGTTTACTCAG	0.413																																						ENST00000296091.4																			0				NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19						c.(1159-1161)gCg>gTg		zinc finger protein 502							86.0	91.0	89.0					3																	44763469		2203	4300	6503	SO:0001583	missense	91392				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:44763469C>T	AK022577	CCDS2719.1	3p21.32	2013-01-08			ENSG00000196653	ENSG00000196653		"""Zinc fingers, C2H2-type"""	23718	protein-coding gene	gene with protein product							Standard	NM_033210		Approved	FLJ14855, FLJ12515	uc003cnt.3	Q8TBZ5	OTTHUMG00000133086	ENST00000296091.4:c.1160C>T	3.37:g.44763469C>T	ENSP00000296091:p.Ala387Val					ZNF502_ENST00000436624.2_Missense_Mutation_p.A387V|ZNF502_ENST00000449836.1_Missense_Mutation_p.A387V	p.A387V	NM_001134440.1|NM_033210.4	NP_001127912.1|NP_149987.2	Q8TBZ5	ZN502_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)	4	1416	+			387						Missense_Mutation	SNP	ENST00000296091.4	37	c.1160C>T	CCDS2719.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.13|14.13	2.443052|2.443052	0.43326|0.43326	.|.	.|.	ENSG00000196653|ENSG00000196653	ENST00000449836;ENST00000296091;ENST00000436624|ENST00000427783	T;T;T|.	0.37411|.	1.2;1.2;1.2|.	4.27|4.27	3.4|3.4	0.38934|0.38934	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);|.	.|.	.|.	.|.	.|.	T|T	0.20901|0.20901	0.0503|0.0503	N|N	0.05031|0.05031	-0.125|-0.125	0.09310|0.09310	N|N	1|1	P|.	0.34724|.	0.465|.	B|.	0.21151|.	0.033|.	T|T	0.16424|0.16424	-1.0403|-1.0403	9|6	0.66056|0.87932	D|D	0.02|0	-15.8868|-15.8868	7.8872|7.8872	0.29656|0.29656	0.0:0.7434:0.1636:0.093|0.0:0.7434:0.1636:0.093	.|.	387|.	Q8TBZ5|.	ZN502_HUMAN|.	V|C	387|387	ENSP00000397390:A387V;ENSP00000296091:A387V;ENSP00000406469:A387V|.	ENSP00000296091:A387V|ENSP00000397812:R387C	A|R	+|+	2|1	0|0	ZNF502|ZNF502	44738473|44738473	0.000000|0.000000	0.05858|0.05858	0.947000|0.947000	0.38551|0.38551	0.675000|0.675000	0.39556|0.39556	-0.039000|-0.039000	0.12124|0.12124	1.160000|1.160000	0.42584|0.42584	0.655000|0.655000	0.94253|0.94253	GCG|CGT		0.413	ZNF502-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256744.4	NM_033210		12	11	0	0	0	1	0	12	11				
ARHGAP12	94134	broad.mit.edu	37	10	32132507	32132507	+	Missense_Mutation	SNP	G	G	T			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr10:32132507G>T	ENST00000344936.2	-	7	1412	c.1178C>A	c.(1177-1179)gCt>gAt	p.A393D	ARHGAP12_ENST00000396144.4_Missense_Mutation_p.A393D|ARHGAP12_ENST00000375245.4_Missense_Mutation_p.A346D|ARHGAP12_ENST00000375250.5_Missense_Mutation_p.A393D|ARHGAP12_ENST00000311380.4_Missense_Mutation_p.A346D	NM_001270697.1|NM_018287.6	NP_001257626.1|NP_060757.4	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12	393					morphogenesis of an epithelial sheet (GO:0002011)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				CTGGGATGAAGCATTATACTA	0.353																																						ENST00000375250.5																			0				NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31						c.(1177-1179)gCt>gAt		Rho GTPase activating protein 12							61.0	60.0	60.0					10																	32132507		2202	4300	6502	SO:0001583	missense	94134				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr10:32132507G>T	AY033594	CCDS7170.1, CCDS59214.1, CCDS59215.1, CCDS59216.1, CCDS73082.1	10p11.22	2013-01-10			ENSG00000165322	ENSG00000165322		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	16348	protein-coding gene	gene with protein product		610577				11854031	Standard	NM_001270695		Approved	FLJ20737, FLJ10971, FLJ21785	uc001ivz.2	Q8IWW6	OTTHUMG00000017911	ENST00000344936.2:c.1178C>A	10.37:g.32132507G>T	ENSP00000345808:p.Ala393Asp					ARHGAP12_ENST00000375245.4_Missense_Mutation_p.A346D|ARHGAP12_ENST00000311380.4_Missense_Mutation_p.A346D|ARHGAP12_ENST00000396144.4_Missense_Mutation_p.A393D|ARHGAP12_ENST00000344936.2_Missense_Mutation_p.A393D	p.A393D	NM_001270696.1	NP_001257625.1	Q8IWW6	RHG12_HUMAN			7	1419	-		Prostate(175;0.0199)	393					B1ANY0|B1ANY1|B1ANY2|Q504X1|Q86UB3|Q8IWW7|Q8N3L1|Q9NT76	Missense_Mutation	SNP	ENST00000344936.2	37	c.1178C>A	CCDS7170.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.85|15.85	2.953629|2.953629	0.53293|0.53293	.|.	.|.	ENSG00000165322|ENSG00000165322	ENST00000311380;ENST00000375250;ENST00000344936;ENST00000396144;ENST00000375245|ENST00000454919	T;T;T;T;T|.	0.37411|.	1.2;3.1;1.2;1.2;1.2|.	5.17|5.17	5.17|5.17	0.71159|0.71159	WW/Rsp5/WWP (1);|.	0.550431|.	0.20001|.	N|.	0.101324|.	T|.	0.67429|.	0.2892|.	L|L	0.42245|0.42245	1.32|1.32	0.52501|0.52501	D|D	0.999954|0.999954	B;B;B;B;B;B|.	0.28258|.	0.13;0.13;0.205;0.13;0.13;0.205|.	B;B;B;B;B;B|.	0.34301|.	0.087;0.087;0.179;0.087;0.087;0.179|.	T|.	0.63808|.	-0.6553|.	10|.	0.15952|.	T|.	0.53|.	.|.	18.6816|18.6816	0.91548|0.91548	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	346;393;393;393;393;346|.	Q1RLN5;B3KR88;Q8IWW6-2;Q504X1;Q8IWW6;Q8IWW6-3|.	.;.;.;.;RHG12_HUMAN;.|.	D|X	346;393;393;393;346|68	ENSP00000310984:A346D;ENSP00000364399:A393D;ENSP00000345808:A393D;ENSP00000379448:A393D;ENSP00000364394:A346D|.	ENSP00000310984:A346D|.	A|C	-|-	2|3	0|2	ARHGAP12|ARHGAP12	32172513|32172513	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	3.778000|3.778000	0.55371|0.55371	2.403000|2.403000	0.81681|0.81681	0.563000|0.563000	0.77884|0.77884	GCT|TGC		0.353	ARHGAP12-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047465.1			3	6	1	0	0.115264	1	0.115264	3	6				
CFAP58	159686	broad.mit.edu	37	10	106153204	106153204	+	Nonsense_Mutation	SNP	C	C	T	rs138726534	byFrequency	TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr10:106153204C>T	ENST00000369704.3	+	11	1779	c.1645C>T	c.(1645-1647)Cga>Tga	p.R549*		NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN		549						extracellular space (GO:0005615)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		GGAACAGCAGCGAATAGAAAA	0.458																																						ENST00000369704.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						c.(1645-1647)Cga>Tga		coiled-coil domain containing 147		C	stop/ARG	1,4405	2.1+/-5.4	0,1,2202	63.0	63.0	63.0		1645	5.4	1.0	10	dbSNP_134	63	1,8599	1.2+/-3.3	0,1,4299	yes	stop-gained	CCDC147	NM_001008723.1		0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154		549/873	106153204	2,13004	2203	4300	6503	SO:0001587	stop_gained	159686							g.chr10:106153204C>T																												ENST00000369704.3:c.1645C>T	10.37:g.106153204C>T	ENSP00000358718:p.Arg549*						p.R549*	NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)	11	1779	+		Colorectal(252;0.103)|Breast(234;0.122)	549					D3DRA6|Q8NA27	Nonsense_Mutation	SNP	ENST00000369704.3	37	c.1645C>T	CCDS31282.1	.	.	.	.	.	.	.	.	.	.	C	41	8.583897	0.98872	2.27E-4	1.16E-4	ENSG00000120051	ENST00000369704	.	.	.	5.45	5.45	0.79879	.	0.061173	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	-3.3355	17.4884	0.87694	0.0:1.0:0.0:0.0	.	.	.	.	X	549	.	ENSP00000358718:R549X	R	+	1	2	CCDC147	106143194	1.000000	0.71417	0.996000	0.52242	0.999000	0.98932	5.762000	0.68809	2.550000	0.86006	0.655000	0.94253	CGA		0.458	CCDC147-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050216.1			8	18	0	0	0	1	0	8	18				
SLCO2A1	6578	broad.mit.edu	37	3	133667531	133667531	+	Missense_Mutation	SNP	G	G	C			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr3:133667531G>C	ENST00000310926.4	-	8	1227	c.954C>G	c.(952-954)atC>atG	p.I318M	SLCO2A1_ENST00000493729.1_Missense_Mutation_p.I242M	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	318					lipid transport (GO:0006869)|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)	lipid transporter activity (GO:0005319)|prostaglandin transmembrane transporter activity (GO:0015132)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30					Alprostadil(DB00770)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Furosemide(DB00695)|Iloprost(DB01088)|Phenobarbital(DB01174)|Pyruvic acid(DB00119)	GCCTCAGAAAGATGCATGGAA	0.587																																						ENST00000310926.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						c.(952-954)atC>atG		solute carrier organic anion transporter family, member 2A1							138.0	134.0	135.0					3																	133667531		2203	4300	6503	SO:0001583	missense	6578				sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding	g.chr3:133667531G>C		CCDS3084.1	3q21	2013-05-22	2003-11-25	2003-11-26	ENSG00000174640	ENSG00000174640		"""Solute carriers"""	10955	protein-coding gene	gene with protein product		601460	"""solute carrier family 21 (prostaglandin transporter), member 2"", ""matrin F/G 1"""	SLC21A2, MATR1		8787677, 9618293	Standard	NM_005630		Approved	PGT, OATP2A1	uc003eqa.4	Q92959	OTTHUMG00000159745	ENST00000310926.4:c.954C>G	3.37:g.133667531G>C	ENSP00000311291:p.Ile318Met					SLCO2A1_ENST00000493729.1_Missense_Mutation_p.I242M	p.I318M	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN			8	1227	-			318					Q86V98|Q8IUN2	Missense_Mutation	SNP	ENST00000310926.4	37	c.954C>G	CCDS3084.1	.	.	.	.	.	.	.	.	.	.	G	11.78	1.741774	0.30865	.	.	ENSG00000174640	ENST00000310926;ENST00000493729	T;T	0.40756	1.02;1.02	5.1	4.21	0.49690	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.155329	0.64402	D	0.000015	T	0.35682	0.0940	L	0.34521	1.04	0.41703	D	0.989413	P;B;P	0.41232	0.728;0.31;0.743	B;B;B	0.42771	0.397;0.146;0.359	T	0.22277	-1.0221	10	0.52906	T	0.07	.	12.041	0.53452	0.1389:0.0:0.8611:0.0	.	137;242;318	B7Z8J8;E7EU40;Q92959	.;.;SO2A1_HUMAN	M	318;242	ENSP00000311291:I318M;ENSP00000418893:I242M	ENSP00000311291:I318M	I	-	3	3	SLCO2A1	135150221	1.000000	0.71417	1.000000	0.80357	0.641000	0.38312	1.755000	0.38379	2.528000	0.85240	0.650000	0.86243	ATC		0.587	SLCO2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357131.1	NM_005630		45	54	0	0	0	1	0	45	54				
C8orf34	116328	broad.mit.edu	37	8	69633615	69633615	+	Silent	SNP	A	A	G			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr8:69633615A>G	ENST00000539993.1	+	10	1638	c.1089A>G	c.(1087-1089)gaA>gaG	p.E363E	C8orf34_ENST00000337103.4_Silent_p.E338E|C8orf34_ENST00000325233.3_Silent_p.E107E|C8orf34_ENST00000518698.1_Silent_p.E449E			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	363										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			CTGGGACTGAAGAAGCACTAA	0.294																																						ENST00000337103.4																			0				NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36						c.(1012-1014)gaA>gaG		chromosome 8 open reading frame 34							97.0	101.0	100.0					8																	69633615		2203	4300	6503	SO:0001819	synonymous_variant	116328				signal transduction		cAMP-dependent protein kinase regulator activity	g.chr8:69633615A>G	AB056652	CCDS6203.1, CCDS6203.2	8q13	2009-10-01			ENSG00000165084	ENSG00000165084			30905	protein-coding gene	gene with protein product	"""vestibule 1"""						Standard	NM_052958		Approved	vest-1, VEST1	uc010lyz.3	Q49A92	OTTHUMG00000164438	ENST00000539993.1:c.1089A>G	8.37:g.69633615A>G						C8orf34_ENST00000325233.3_Silent_p.E107E|C8orf34_ENST00000539993.1_Silent_p.E363E|C8orf34_ENST00000518698.1_Silent_p.E449E	p.E338E			Q49A92	CH034_HUMAN	Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)		9	2606	+			363					A8K5X1|G3XAM6|Q8N1X0|Q8N9M7|Q8ND19|Q96Q28	Silent	SNP	ENST00000539993.1	37	c.1014A>G																																																																																					0.294	C8orf34-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_052958		8	26	0	0	0	1	0	8	26				
UBE4B	10277	broad.mit.edu	37	1	10228273	10228273	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr1:10228273C>T	ENST00000253251.8	+	23	3730	c.2891C>T	c.(2890-2892)aCc>aTc	p.T964I	UBE4B_ENST00000343090.6_Missense_Mutation_p.T1093I|UBE4B_ENST00000377157.3_Missense_Mutation_p.T848I					ubiquitination factor E4B											NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		GCCACCGAAACCGTGGACATG	0.577																																						ENST00000377157.3																			0				NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48						c.(2542-2544)aCc>aTc		ubiquitination factor E4B							98.0	77.0	84.0					1																	10228273		2203	4300	6503	SO:0001583	missense	10277				apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding	g.chr1:10228273C>T	AF091093	CCDS110.1, CCDS41245.1	1p36.1	2013-01-28	2011-05-19		ENSG00000130939	ENSG00000130939		"""U-box domain containing"""	12500	protein-coding gene	gene with protein product		613565	"""ubiquitination factor E4B (homologous to yeast UFD2)"", ""ubiquitination factor E4B (UFD2 homolog, yeast)"""			9734811, 10089879	Standard	NM_006048		Approved	UBOX3, E4, UFD2, KIAA0684	uc001aqs.4	O95155	OTTHUMG00000001797	ENST00000253251.8:c.2891C>T	1.37:g.10228273C>T	ENSP00000253251:p.Thr964Ile					UBE4B_ENST00000253251.8_Missense_Mutation_p.T964I|UBE4B_ENST00000343090.6_Missense_Mutation_p.T1093I	p.T848I	NM_006048.4	NP_006039.2	O95155	UBE4B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)	23	3604	+		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	1093						Missense_Mutation	SNP	ENST00000253251.8	37	c.2543C>T	CCDS110.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.853805	0.91355	.	.	ENSG00000130939	ENST00000253251;ENST00000377157;ENST00000343090	T;T;T	0.49139	0.79;0.79;0.79	5.2	5.2	0.72013	Ubiquitin conjugation factor E4, core (1);	0.000000	0.85682	D	0.000000	T	0.73442	0.3587	M	0.85373	2.75	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.976	T	0.78086	-0.2341	10	0.66056	D	0.02	-22.0851	18.7638	0.91864	0.0:1.0:0.0:0.0	.	1093;964	O95155;O95155-2	UBE4B_HUMAN;.	I	964;848;1093	ENSP00000253251:T964I;ENSP00000366362:T848I;ENSP00000343001:T1093I	ENSP00000253251:T964I	T	+	2	0	UBE4B	10150860	1.000000	0.71417	0.873000	0.34254	0.672000	0.39443	7.811000	0.86092	2.426000	0.82243	0.563000	0.77884	ACC		0.577	UBE4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005017.1	NM_006048		19	21	0	0	0	1	0	19	21				
PDK4	5166	broad.mit.edu	37	7	95222092	95222092	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr7:95222092C>T	ENST00000005178.5	-	4	706	c.509G>A	c.(508-510)cGg>cAg	p.R170Q		NM_002612.3	NP_002603.1	Q16654	PDK4_HUMAN	pyruvate dehydrogenase kinase, isozyme 4	170	Histidine kinase. {ECO:0000255|PROSITE- ProRule:PRU00107}.				cellular metabolic process (GO:0044237)|cellular response to fatty acid (GO:0071398)|cellular response to starvation (GO:0009267)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|insulin receptor signaling pathway (GO:0008286)|negative regulation of anoikis (GO:2000811)|protein phosphorylation (GO:0006468)|pyruvate metabolic process (GO:0006090)|reactive oxygen species metabolic process (GO:0072593)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of bone resorption (GO:0045124)|regulation of cellular ketone metabolic process (GO:0010565)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of fatty acid oxidation (GO:0046320)|regulation of glucose metabolic process (GO:0010906)|regulation of pH (GO:0006885)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|pyruvate dehydrogenase (acetyl-transferring) kinase activity (GO:0004740)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0151)			CATCAGCATCCGAGTAGAAAT	0.368																																						ENST00000005178.5																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						c.(508-510)cGg>cAg		pyruvate dehydrogenase kinase, isozyme 4							121.0	117.0	118.0					7																	95222092		2203	4300	6503	SO:0001583	missense	5166				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity	g.chr7:95222092C>T	U54617	CCDS5643.1	7q21.3-q22.1	2008-07-18	2005-11-16		ENSG00000004799	ENSG00000004799			8812	protein-coding gene	gene with protein product		602527	"""pyruvate dehydrogenase kinase, isoenzyme 4"""			7499431	Standard	NM_002612		Approved		uc003uoa.3	Q16654	OTTHUMG00000153977	ENST00000005178.5:c.509G>A	7.37:g.95222092C>T	ENSP00000005178:p.Arg170Gln						p.R170Q	NM_002612.3	NP_002603.1	Q16654	PDK4_HUMAN	STAD - Stomach adenocarcinoma(171;0.0151)		4	706	-	all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151)		170			Histidine kinase.			Missense_Mutation	SNP	ENST00000005178.5	37	c.509G>A	CCDS5643.1	.	.	.	.	.	.	.	.	.	.	C	36	5.784037	0.96937	.	.	ENSG00000004799	ENST00000005178;ENST00000542888	T	0.61040	0.14	5.75	5.75	0.90469	Branched-chain alpha-ketoacid dehydrogenase kinase/Pyruvate dehydrogenase kinase, N-terminal (3);	0.000000	0.85682	D	0.000000	T	0.80491	0.4633	M	0.92268	3.29	0.80722	D	1	D	0.58970	0.984	P	0.58172	0.834	D	0.84256	0.0480	10	0.72032	D	0.01	.	20.3271	0.98704	0.0:1.0:0.0:0.0	.	170	Q16654	PDK4_HUMAN	Q	170;134	ENSP00000005178:R170Q	ENSP00000005178:R170Q	R	-	2	0	PDK4	95060028	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.885000	0.99019	0.655000	0.94253	CGG		0.368	PDK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333298.1	NM_002612		9	57	0	0	0	1	0	9	57				
UGT1A1	54658	broad.mit.edu	37	2	234526741	234526741	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr2:234526741G>A	ENST00000373450.4	+	1	451	c.388G>A	c.(388-390)Gac>Aac	p.D130N		NM_019076.4	NP_061949.3	P22309	UD11_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A1	133					acute-phase response (GO:0006953)|bilirubin conjugation (GO:0006789)|biphenyl catabolic process (GO:0070980)|cellular glucuronidation (GO:0052695)|cellular response to ethanol (GO:0071361)|cellular response to glucocorticoid stimulus (GO:0071385)|digestion (GO:0007586)|drug metabolic process (GO:0017144)|estrogen metabolic process (GO:0008210)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|heme catabolic process (GO:0042167)|heterocycle metabolic process (GO:0046483)|liver development (GO:0001889)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of steroid metabolic process (GO:0045939)|organ regeneration (GO:0031100)|porphyrin-containing compound metabolic process (GO:0006778)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic glucuronidation (GO:0052697)|xenobiotic metabolic process (GO:0006805)	cytochrome complex (GO:0070069)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|steroid binding (GO:0005496)			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Acetaminophen(DB00316)|Adenine(DB00173)|Atorvastatin(DB01076)|Axitinib(DB06626)|Diclofenac(DB00586)|Dolutegravir(DB08930)|Eltrombopag(DB06210)|Erlotinib(DB00530)|Estradiol(DB00783)|Etoposide(DB00773)|Ezetimibe(DB00973)|Ezogabine(DB04953)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indacaterol(DB05039)|Indomethacin(DB00328)|Irinotecan(DB00762)|Losartan(DB00678)|Lovastatin(DB00227)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naltrexone(DB00704)|Naproxen(DB00788)|Nilotinib(DB04868)|Pazopanib(DB06589)|Propofol(DB00818)|Raltegravir(DB06817)|Regorafenib(DB08896)|Rifampicin(DB01045)|Simvastatin(DB00641)|Sorafenib(DB00398)|Suprofen(DB00870)|Testosterone Propionate(DB01420)	TTTGTTTAATGACCGAAAATT	0.343																																						ENST00000373450.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)	30						c.(388-390)Gac>Aac									124.0	132.0	130.0					2																	234526741		2203	4300	6503	SO:0001583	missense	54576							g.chr2:234526741G>A	M57899	CCDS2510.1	2q37.1	2014-09-17	2005-07-20		ENSG00000242366	ENSG00000242366	2.4.1.17	"""UDP glucuronosyltransferases"""	12530	other	complex locus constituent		191740	"""UDP glycosyltransferase 1 family, polypeptide A1"""	UGT1, GNT1		9295054, 9535849	Standard	NM_000463		Approved	UGT1A		P22309	OTTHUMG00000059117	ENST00000373450.4:c.388G>A	2.37:g.234526741G>A	ENSP00000362549:p.Asp130Asn						p.D130N	NM_019076.4	NP_061949.3				Epithelial(121;2.56e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000482)|Lung(119;0.00404)|LUSC - Lung squamous cell carcinoma(224;0.008)	1	451	+		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)						A6NJC3|B8K286	Missense_Mutation	SNP	ENST00000373450.4	37	c.388G>A	CCDS33402.1	.	.	.	.	.	.	.	.	.	.	G	0.012	-1.656687	0.00779	.	.	ENSG00000242366	ENST00000373450	T	0.58652	0.32	3.96	2.12	0.27331	.	.	.	.	.	T	0.48642	0.1511	N	0.25380	0.74	0.09310	N	1	P;P	0.49696	0.927;0.927	P;P	0.54706	0.759;0.759	T	0.35624	-0.9781	9	0.02654	T	1	.	8.5852	0.33653	0.274:0.0:0.726:0.0	.	130;130	Q5DSZ6;Q9HAW9	.;UD18_HUMAN	N	130	ENSP00000362549:D130N	ENSP00000362549:D130N	D	+	1	0	UGT1A8	234191480	0.000000	0.05858	0.011000	0.14972	0.289000	0.27227	0.223000	0.17719	1.023000	0.39654	0.505000	0.49811	GAC		0.343	UGT1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000130994.1			22	50	0	0	0	1	0	22	50				
ARHGAP22	58504	broad.mit.edu	37	10	49661371	49661371	+	Missense_Mutation	SNP	C	C	G			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr10:49661371C>G	ENST00000249601.4	-	8	1260	c.964G>C	c.(964-966)Gag>Cag	p.E322Q	ARHGAP22_ENST00000417912.2_Missense_Mutation_p.E338Q|ARHGAP22_ENST00000477708.2_5'Flank|ARHGAP22_ENST00000374172.1_Missense_Mutation_p.E213Q|ARHGAP22_ENST00000435790.2_Missense_Mutation_p.E328Q|ARHGAP22_ENST00000417247.2_Missense_Mutation_p.E232Q|ARHGAP22_ENST00000374170.1_Missense_Mutation_p.E163Q	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 22	322	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						ACTGGGTCCTCTACCTGTGGC	0.537																																						ENST00000249601.4																			0				endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(964-966)Gag>Cag		Rho GTPase activating protein 22							139.0	115.0	123.0					10																	49661371		2203	4300	6503	SO:0001583	missense	58504				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity	g.chr10:49661371C>G	AY324801	CCDS7227.1, CCDS58079.1, CCDS58080.1, CCDS58081.1	10q11.23	2013-01-10			ENSG00000128805	ENSG00000128805		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	30320	protein-coding gene	gene with protein product		610585				8619474	Standard	NM_021226		Approved	RhoGAP2	uc010qgm.3	Q7Z5H3	OTTHUMG00000018176	ENST00000249601.4:c.964G>C	10.37:g.49661371C>G	ENSP00000249601:p.Glu322Gln					ARHGAP22_ENST00000417912.2_Missense_Mutation_p.E338Q|ARHGAP22_ENST00000374170.1_Missense_Mutation_p.E163Q|ARHGAP22_ENST00000374172.1_Missense_Mutation_p.E213Q|ARHGAP22_ENST00000417247.2_Missense_Mutation_p.E232Q|ARHGAP22_ENST00000435790.2_Missense_Mutation_p.E328Q	p.E322Q	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN			8	1260	-			322			Rho-GAP.		A0AVP7|A5YM75|B4DED8|B9EGA0|C9JDM2|O00152|Q6ZSB0	Missense_Mutation	SNP	ENST00000249601.4	37	c.964G>C	CCDS7227.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.445477	0.84101	.	.	ENSG00000128805	ENST00000249601;ENST00000374172;ENST00000374170;ENST00000417247;ENST00000435790;ENST00000417912	T;T;T;T;T;T	0.16597	2.72;2.33;2.72;2.72;2.72;2.67	5.37	5.37	0.77165	Rho GTPase-activating protein domain (3);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.33206	0.0855	L	0.52573	1.65	0.52099	D	0.999942	D;D;D;D;P	0.71674	0.989;0.988;0.998;0.988;0.756	D;D;D;D;P	0.67382	0.93;0.951;0.937;0.951;0.591	T	0.00844	-1.1543	10	0.35671	T	0.21	.	13.7997	0.63192	0.0:0.8467:0.1533:0.0	.	328;322;338;322;232	B4DED8;A6NDI7;Q7Z5H3-2;Q7Z5H3;Q7Z5H3-3	.;.;.;RHG22_HUMAN;.	Q	322;213;163;232;328;338	ENSP00000249601:E322Q;ENSP00000363287:E213Q;ENSP00000363285:E163Q;ENSP00000410054:E232Q;ENSP00000416701:E328Q;ENSP00000412461:E338Q	ENSP00000249601:E322Q	E	-	1	0	ARHGAP22	49331377	1.000000	0.71417	0.907000	0.35723	0.930000	0.56654	5.850000	0.69473	2.516000	0.84829	0.637000	0.83480	GAG		0.537	ARHGAP22-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000358767.1	NM_021226		14	26	0	0	0	1	0	14	26				
HNRNPA0	10949	broad.mit.edu	37	5	137089538	137089538	+	Missense_Mutation	SNP	T	T	A			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr5:137089538T>A	ENST00000314940.4	-	1	501	c.218A>T	c.(217-219)gAc>gTc	p.D73V		NM_006805.3	NP_006796.1	Q13151	ROA0_HUMAN	heterogeneous nuclear ribonucleoprotein A0	73	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|gene expression (GO:0010467)|inflammatory response (GO:0006954)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|response to lipopolysaccharide (GO:0032496)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|RNA binding (GO:0003723)			large_intestine(1)|lung(2)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGTGTTGCCGTCCACGGCATG	0.647																																						ENST00000314940.4																			0				large_intestine(1)|lung(2)|skin(1)	4						c.(217-219)gAc>gTc		heterogeneous nuclear ribonucleoprotein A0							44.0	48.0	46.0					5																	137089538		2201	4298	6499	SO:0001583	missense	10949				nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|RNA binding	g.chr5:137089538T>A	U23803	CCDS4193.1	5q31	2013-02-12		2007-08-16	ENSG00000177733	ENSG00000177733		"""RNA binding motif (RRM) containing"""	5030	protein-coding gene	gene with protein product		609409		HNRPA0		7585247	Standard	NM_006805		Approved	hnRNPA0	uc003lbt.3	Q13151	OTTHUMG00000129156	ENST00000314940.4:c.218A>T	5.37:g.137089538T>A	ENSP00000316042:p.Asp73Val						p.D73V	NM_006805.3	NP_006796.1	Q13151	ROA0_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		1	501	-			73			RRM 1.		Q6IB18	Missense_Mutation	SNP	ENST00000314940.4	37	c.218A>T	CCDS4193.1	.	.	.	.	.	.	.	.	.	.	T	28.9	4.964472	0.92791	.	.	ENSG00000177733	ENST00000314940	D	0.92965	-3.14	4.97	4.97	0.65823	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	U	0.000000	D	0.96645	0.8905	M	0.91354	3.2	0.80722	D	1	D	0.89917	1.0	D	0.72075	0.976	D	0.97551	1.0092	10	0.87932	D	0	.	14.6443	0.68748	0.0:0.0:0.0:1.0	.	73	Q13151	ROA0_HUMAN	V	73	ENSP00000316042:D73V	ENSP00000316042:D73V	D	-	2	0	HNRNPA0	137117437	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.975000	0.88055	1.867000	0.54127	0.254000	0.18369	GAC		0.647	HNRNPA0-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251221.1	NM_006805		35	62	0	0	0	1	0	35	62				
IVD	3712	broad.mit.edu	37	15	40710407	40710407	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr15:40710407C>T	ENST00000249760.2	+	12	1560	c.1217C>T	c.(1216-1218)aCc>aTc	p.T406I	IVD_ENST00000479013.2_Missense_Mutation_p.T379I|IVD_ENST00000487418.2_Missense_Mutation_p.T409I	NM_002225.3	NP_002216.2	P26440	IVD_HUMAN	isovaleryl-CoA dehydrogenase	406					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|leucine catabolic process (GO:0006552)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	flavin adenine dinucleotide binding (GO:0050660)|isovaleryl-CoA dehydrogenase activity (GO:0008470)			kidney(1)|lung(5)|ovary(2)|prostate(1)	9		all_cancers(109;1.19e-18)|all_epithelial(112;1.52e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.65e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0808)	Flavin adenine dinucleotide(DB03147)	GGGGCTGGGACCAGCGAGGTG	0.562																																					GBM(31;293 617 7486 32527 34655)	ENST00000249760.2																			0				kidney(1)|lung(5)|ovary(2)|prostate(1)	9						c.(1216-1218)aCc>aTc		isovaleryl-CoA dehydrogenase							102.0	97.0	98.0					15																	40710407		2203	4300	6503	SO:0001583	missense	3712				leucine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|isovaleryl-CoA dehydrogenase activity	g.chr15:40710407C>T	AF038317	CCDS10057.1, CCDS10057.2, CCDS53930.1	15q14-q15	2010-05-11	2010-05-11		ENSG00000128928	ENSG00000128928	1.3.99.10		6186	protein-coding gene	gene with protein product		607036	"""isovaleryl Coenzyme A dehydrogenase"", ""isovaleryl CoA dehydrogenase"""			2063866	Standard	NM_002225		Approved	ACAD2	uc001zls.3	P26440	OTTHUMG00000129984	ENST00000249760.2:c.1217C>T	15.37:g.40710407C>T	ENSP00000249760:p.Thr406Ile					IVD_ENST00000479013.2_Missense_Mutation_p.T379I|IVD_ENST00000487418.2_Missense_Mutation_p.T409I	p.T406I	NM_002225.3	NP_002216.2	P26440	IVD_HUMAN		GBM - Glioblastoma multiforme(113;3.65e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0808)	12	1560	+		all_cancers(109;1.19e-18)|all_epithelial(112;1.52e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	406					B2RCV5|B3KVI7|J3KR54|Q53XZ9|Q96AF6	Missense_Mutation	SNP	ENST00000249760.2	37	c.1217C>T		.	.	.	.	.	.	.	.	.	.	C	33	5.251621	0.95305	.	.	ENSG00000128928	ENST00000249760;ENST00000479013;ENST00000487418	D;D;D	0.97480	-4.4;-4.4;-4.4	5.15	5.15	0.70609	Acyl-CoA dehydrogenase/oxidase C-terminal (2);Acyl-CoA oxidase/dehydrogenase, type 1 (1);	0.000000	0.85682	D	0.000000	D	0.99348	0.9771	H	0.99863	4.86	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98128	1.0429	10	0.87932	D	0	.	18.6251	0.91334	0.0:1.0:0.0:0.0	.	406;379	P26440;B3KVI7	IVD_HUMAN;.	I	406;379;409	ENSP00000249760:T406I;ENSP00000417990:T379I;ENSP00000418397:T409I	ENSP00000249760:T406I	T	+	2	0	IVD	38497699	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.674000	0.83992	2.381000	0.81170	0.491000	0.48974	ACC		0.562	IVD-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding				19	58	0	0	0	1	0	19	58				
SRRM2	23524	broad.mit.edu	37	16	2815821	2815821	+	Silent	SNP	G	G	A			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr16:2815821G>A	ENST00000301740.8	+	11	5841	c.5292G>A	c.(5290-5292)tcG>tcA	p.S1764S		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1764	Arg-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						GCTCTCCTTCGCCAAAGCCTC	0.572																																						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.(5290-5292)tcG>tcA		serine/arginine repetitive matrix 2							50.0	53.0	52.0					16																	2815821		2198	4300	6498	SO:0001819	synonymous_variant	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2815821G>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.5292G>A	16.37:g.2815821G>A							p.S1764S	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN			11	5841	+			1764			Arg-rich.|Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Silent	SNP	ENST00000301740.8	37	c.5292G>A	CCDS32373.1																																																																																				0.572	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			17	32	0	0	0	1	0	17	32				
TP53	7157	broad.mit.edu	37	17	7579378	7579378	+	Nonsense_Mutation	SNP	G	G	T			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr17:7579378G>T	ENST00000269305.4	-	4	498	c.309C>A	c.(307-309)taC>taA	p.Y103*	TP53_ENST00000420246.2_Nonsense_Mutation_p.Y103*|TP53_ENST00000455263.2_Nonsense_Mutation_p.Y103*|TP53_ENST00000359597.4_Nonsense_Mutation_p.Y103*|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Nonsense_Mutation_p.Y103*|TP53_ENST00000445888.2_Nonsense_Mutation_p.Y103*	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	103	Interaction with HIPK1. {ECO:0000250}.|Interaction with WWOX.|Required for interaction with ZNF385A.				apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Y103*(10)|p.0?(8)|p.Q100fs*37(3)|p.G59fs*23(3)|p.V73fs*9(1)|p.Y103Y(1)|p.Y103_Q104>**(1)|p.W91fs*13(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y103_L111>L(1)|p.Y103fs*15(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	AGCTGCCCTGGTAGGTTTTCT	0.637		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		33	Deletion - Frameshift(11)|Substitution - Nonsense(10)|Whole gene deletion(8)|Complex - deletion inframe(2)|Substitution - coding silent(1)|Complex - compound substitution(1)	p.Y103*(10)|p.0?(8)|p.Q100fs*37(3)|p.G59fs*23(3)|p.V73fs*9(1)|p.Y103Y(1)|p.Y103_Q104>**(1)|p.W91fs*13(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y103_L111>L(1)|p.Y103fs*15(1)	lung(6)|large_intestine(4)|bone(4)|upper_aerodigestive_tract(3)|breast(3)|skin(3)|ovary(3)|stomach(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|urinary_tract(1)|liver(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM073388	TP53	M		c.(307-309)taC>taA	Other conserved DNA damage response genes	tumor protein p53							53.0	54.0	54.0					17																	7579378		2203	4300	6503	SO:0001587	stop_gained	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7579378G>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.309C>A	17.37:g.7579378G>T	ENSP00000269305:p.Tyr103*	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000445888.2_Nonsense_Mutation_p.Y103*|TP53_ENST00000413465.2_Nonsense_Mutation_p.Y103*|TP53_ENST00000455263.2_Nonsense_Mutation_p.Y103*|TP53_ENST00000359597.4_Nonsense_Mutation_p.Y103*|TP53_ENST00000269305.4_Nonsense_Mutation_p.Y103*	p.Y103*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	441	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	103			Interaction with HIPK1 (By similarity).|Interaction with WWOX.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.309C>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	18.86	3.713314	0.68730	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	.	.	.	4.75	2.77	0.32553	.	0.191050	0.47093	D	0.000250	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.7581	8.9354	0.35697	0.1877:0.0:0.8123:0.0	.	.	.	.	X	103	.	ENSP00000269305:Y103X	Y	-	3	2	TP53	7520103	1.000000	0.71417	0.665000	0.29768	0.394000	0.30568	4.673000	0.61604	1.366000	0.46076	0.655000	0.94253	TAC		0.637	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		43	60	1	0	5.59293e-11	1	6.07508e-11	43	60				
MDGA2	161357	broad.mit.edu	37	14	47530616	47530616	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr14:47530616C>T	ENST00000399232.2	-	7	1518	c.1154G>A	c.(1153-1155)cGg>cAg	p.R385Q	MDGA2_ENST00000439988.3_Missense_Mutation_p.R454Q|MDGA2_ENST00000357362.3_Missense_Mutation_p.R156Q|MDGA2_ENST00000426342.1_Missense_Mutation_p.R156Q	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	385	Ig-like 4.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.R156Q(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						AATGACCATCCGCTCAGAACT	0.418																																						ENST00000426342.1																			1	Substitution - Missense(1)	p.R156Q(1)	ovary(1)	breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						c.(466-468)cGg>cAg		MAM domain containing glycosylphosphatidylinositol anchor 2							158.0	142.0	147.0					14																	47530616		1897	4112	6009	SO:0001583	missense	161357				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		g.chr14:47530616C>T	AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19835	protein-coding gene	gene with protein product		611128	"""MAM domain containing 1"""	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.1154G>A	14.37:g.47530616C>T	ENSP00000382178:p.Arg385Gln					MDGA2_ENST00000399232.2_Missense_Mutation_p.R454Q|MDGA2_ENST00000439988.2_Missense_Mutation_p.R385Q|MDGA2_ENST00000357362.3_Missense_Mutation_p.R156Q	p.R156Q	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN			7	1213	-			385			Ig-like 2.		F6W3S7|J3KPX6	Missense_Mutation	SNP	ENST00000399232.2	37	c.467G>A		.	.	.	.	.	.	.	.	.	.	C	33	5.282825	0.95489	.	.	ENSG00000139915	ENST00000439988;ENST00000426342;ENST00000399232;ENST00000357362	T;T;T;T	0.52526	0.66;0.66;0.66;0.66	5.64	5.64	0.86602	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.47455	U	0.000235	T	0.70928	0.3280	M	0.78916	2.43	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.73930	-0.3827	10	0.87932	D	0	.	18.2795	0.90094	0.0:1.0:0.0:0.0	.	385	Q7Z553	MDGA2_HUMAN	Q	385;156;454;156	ENSP00000400011:R385Q;ENSP00000405456:R156Q;ENSP00000382178:R454Q;ENSP00000349925:R156Q	ENSP00000349925:R156Q	R	-	2	0	MDGA2	46600366	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.770000	0.85390	2.658000	0.90341	0.655000	0.94253	CGG		0.418	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000073352.5	NM_182830		26	40	0	0	0	1	0	26	40				
KMT2C	58508	broad.mit.edu	37	7	151856002	151856002	+	Silent	SNP	T	T	C			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr7:151856002T>C	ENST00000262189.6	-	44	11834	c.11616A>G	c.(11614-11616)gaA>gaG	p.E3872E	KMT2C_ENST00000355193.2_Silent_p.E3872E	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	3872					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										GTTTCTCCTCTTCGTCCTTTT	0.453																																						ENST00000355193.2																			0											c.(11614-11616)gaA>gaG		lysine (K)-specific methyltransferase 2C							392.0	355.0	368.0					7																	151856002		2203	4300	6503	SO:0001819	synonymous_variant	58508							g.chr7:151856002T>C	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.11616A>G	7.37:g.151856002T>C						KMT2C_ENST00000262189.6_Silent_p.E3872E	p.E3872E							44	11834	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Silent	SNP	ENST00000262189.6	37	c.11616A>G	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	T	9.445	1.089074	0.20390	.	.	ENSG00000055609	ENST00000360104	.	.	.	5.56	-6.99	0.01605	.	.	.	.	.	T	0.43255	0.1239	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43540	-0.9385	4	.	.	.	.	4.4706	0.11710	0.0907:0.389:0.278:0.2423	.	.	.	.	G	1378	.	.	R	-	1	2	MLL3	151486935	0.478000	0.25917	0.090000	0.20809	0.960000	0.62799	-0.610000	0.05629	-1.520000	0.01773	0.482000	0.46254	AGA		0.453	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			87	43	0	0	0	1	0	87	43				
EBF1	1879	broad.mit.edu	37	5	158223376	158223376	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr5:158223376C>T	ENST00000313708.6	-	9	1168	c.886G>A	c.(886-888)Ggt>Agt	p.G296S	EBF1_ENST00000380654.4_Missense_Mutation_p.G265S|EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000517373.1_Missense_Mutation_p.G288S	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	296	IPT/TIG.				multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGCATGGTACCGAATATGACC	0.428			T	HMGA2	lipoma																																	ENST00000313708.6				Dom	yes		5	5q34	1879	T	early B-cell factor 1			M	HMGA2		lipoma	HMGA2/EBF1(2)	0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						c.(886-888)Ggt>Agt		early B-cell factor 1							146.0	120.0	129.0					5																	158223376		2203	4300	6503	SO:0001583	missense	1879				multicellular organismal development	nucleus	DNA binding|metal ion binding	g.chr5:158223376C>T	AF208502	CCDS4343.1	5q34	2008-02-05	2006-09-26	2006-09-26	ENSG00000164330	ENSG00000164330			3126	protein-coding gene	gene with protein product		164343	"""early B-cell factor"""	EBF		8012110	Standard	NM_024007		Approved	OLF1	uc010jip.3	Q9UH73	OTTHUMG00000130304	ENST00000313708.6:c.886G>A	5.37:g.158223376C>T	ENSP00000322898:p.Gly296Ser					EBF1_ENST00000517373.1_Missense_Mutation_p.G288S|EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000380654.4_Missense_Mutation_p.G265S	p.G296S	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		9	1168	-	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	296			IPT/TIG.		Q8IW11	Missense_Mutation	SNP	ENST00000313708.6	37	c.886G>A	CCDS4343.1	.	.	.	.	.	.	.	.	.	.	C	35	5.514008	0.96402	.	.	ENSG00000164330	ENST00000318060;ENST00000313708;ENST00000380654;ENST00000517373	D;D;D	0.83250	-1.7;-1.7;-1.7	5.68	5.68	0.88126	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.92506	0.7620	M	0.85630	2.765	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.992;0.993;1.0;0.998	D	0.92813	0.6266	10	0.87932	D	0	-2.8601	20.1615	0.98135	0.0:1.0:0.0:0.0	.	296;283;296;265	A8K0Z7;B4E2U8;Q9UH73;Q9UH73-2	.;.;COE1_HUMAN;.	S	296;296;265;288	ENSP00000322898:G296S;ENSP00000370029:G265S;ENSP00000428020:G288S	ENSP00000322898:G296S	G	-	1	0	EBF1	158155954	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.776000	0.85560	2.835000	0.97688	0.650000	0.86243	GGT		0.428	EBF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000252649.1	NM_024007		5	43	0	0	0	1	0	5	43				
DLGAP1	9229	broad.mit.edu	37	18	3742511	3742511	+	Splice_Site	SNP	T	T	C			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr18:3742511T>C	ENST00000315677.3	-	6	1769	c.1174A>G	c.(1174-1176)Atc>Gtc	p.I392V	DLGAP1_ENST00000584874.1_Splice_Site_p.I392V|DLGAP1_ENST00000539435.1_Splice_Site_p.I90V|DLGAP1_ENST00000400155.1_Splice_Site_p.I98V|DLGAP1_ENST00000534970.1_Splice_Site_p.I104V|DLGAP1_ENST00000400147.2_Splice_Site_p.I90V|DLGAP1_ENST00000400150.3_Splice_Site_p.I98V|DLGAP1_ENST00000581527.1_Splice_Site_p.I392V|DLGAP1_ENST00000515196.2_Splice_Site_p.I392V|DLGAP1_ENST00000400149.3_Splice_Site_p.I100V|DLGAP1_ENST00000400145.2_Splice_Site_p.I90V|DLGAP1_ENST00000478161.1_5'UTR|DLGAP1_ENST00000581699.1_Splice_Site_p.I98V	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	392					synaptic transmission (GO:0007268)	cell junction (GO:0030054)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				TCATTGGAGATTCTGGAAGGG	0.473																																						ENST00000315677.3																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56						c.e6-1		discs, large (Drosophila) homolog-associated protein 1							74.0	64.0	67.0					18																	3742511		2203	4300	6503	SO:0001630	splice_region_variant	9229				synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane		g.chr18:3742511T>C	AB000277	CCDS11836.1, CCDS42406.1, CCDS56049.1, CCDS56050.1, CCDS56051.1, CCDS56052.1, CCDS56053.1, CCDS74191.1	18p11.3	2008-07-28	2001-11-28		ENSG00000170579	ENSG00000170579			2905	protein-coding gene	gene with protein product		605445	"""discs, large (Drosophila) homolog-associated protein 1"""			9024696, 9286858	Standard	NM_004746		Approved	GKAP, SAPAP1, DAP-1	uc002kmf.3	O14490	OTTHUMG00000131537	ENST00000315677.3:c.1173-1A>G	18.37:g.3742511T>C						DLGAP1_ENST00000400155.1_Splice_Site_p.I98_splice|DLGAP1_ENST00000400149.3_Splice_Site_p.I100_splice|DLGAP1_ENST00000478161.1_5'UTR|DLGAP1_ENST00000581527.1_Splice_Site_p.I392_splice|DLGAP1_ENST00000400147.2_Splice_Site_p.I90_splice|DLGAP1_ENST00000400150.3_Splice_Site_p.I98_splice|DLGAP1_ENST00000534970.1_Splice_Site_p.I104_splice|DLGAP1_ENST00000584874.1_Splice_Site_p.I392_splice|DLGAP1_ENST00000400145.2_Splice_Site_p.I90_splice|DLGAP1_ENST00000539435.1_Splice_Site_p.I90_splice|DLGAP1_ENST00000581699.1_Splice_Site_p.I98_splice|DLGAP1_ENST00000515196.2_Splice_Site_p.I392_splice	p.I392_splice	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN			6	1769	-		Colorectal(8;0.0257)	392					A8MWN8|B2RMU8|B7WPA1|B7Z2H2|B7Z2I2|B7Z9Y4|O14489|P78335	Splice_Site	SNP	ENST00000315677.3	37	c.1172_splice	CCDS11836.1	.	.	.	.	.	.	.	.	.	.	T	9.957	1.221643	0.22457	.	.	ENSG00000170579	ENST00000315677;ENST00000400147;ENST00000400150;ENST00000400149;ENST00000400155;ENST00000534970;ENST00000539435;ENST00000400145;ENST00000515196	T;T;T;T;T;T;T;T;T	0.14893	2.47;2.47;2.47;2.47;2.47;2.47;2.47;2.47;2.47	5.23	5.23	0.72850	.	0.288892	0.37304	N	0.002144	T	0.13841	0.0335	L	0.29908	0.895	0.47407	D	0.999411	B;B;B;B;B;B;B;B;B	0.20780	0.008;0.048;0.0;0.02;0.02;0.037;0.033;0.0;0.002	B;B;B;B;B;B;B;B;B	0.19391	0.01;0.022;0.001;0.015;0.013;0.022;0.025;0.001;0.003	T	0.09207	-1.0685	10	0.17832	T	0.49	-8.7749	15.449	0.75257	0.0:0.0:0.0:1.0	.	392;104;78;98;90;392;90;392;90	B7Z9Y4;B7Z2H2;B7Z2J5;A8MWN8;B7Z2I2;Q6IS01;O14490-3;O14490;O14490-2	.;.;.;.;.;.;.;DLGP1_HUMAN;.	V	392;90;98;100;98;104;90;90;392	ENSP00000316377:I392V;ENSP00000383011:I90V;ENSP00000383014:I98V;ENSP00000383013:I100V;ENSP00000383019:I98V;ENSP00000437817:I104V;ENSP00000446312:I90V;ENSP00000383010:I90V;ENSP00000445973:I392V	ENSP00000316377:I392V	I	-	1	0	DLGAP1	3732511	1.000000	0.71417	0.925000	0.36789	0.620000	0.37586	7.640000	0.83355	2.122000	0.65172	0.438000	0.28831	ATC		0.473	DLGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254394.4		Missense_Mutation	7	54	0	0	0	1	0	7	54				
SYNE2	23224	broad.mit.edu	37	14	64518417	64518417	+	Silent	SNP	T	T	C	rs377350355		TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr14:64518417T>C	ENST00000344113.4	+	48	7998	c.7786T>C	c.(7786-7788)Ttg>Ctg	p.L2596L	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Silent_p.L2629L|SYNE2_ENST00000358025.3_Silent_p.L2596L	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2596					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TAAGAAATTGTTGGAAAGCCA	0.358																																						ENST00000358025.3																			0				NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.(7786-7788)Ttg>Ctg		spectrin repeat containing, nuclear envelope 2		T	,	0,3730		0,0,1865	95.0	89.0	91.0		7786,7786	-6.0	0.0	14		91	1,8215		0,1,4107	no	coding-synonymous,coding-synonymous	SYNE2	NM_015180.4,NM_182914.2	,	0,1,5972	CC,CT,TT		0.0122,0.0,0.0084	,	2596/6886,2596/6908	64518417	1,11945	1865	4108	5973	SO:0001819	synonymous_variant	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64518417T>C	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.7786T>C	14.37:g.64518417T>C						SYNE2_ENST00000554584.1_Silent_p.L2629L|SYNE2_ENST00000344113.4_Silent_p.L2596L|SYNE2_ENST00000357395.3_5'UTR	p.L2596L	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	48	8016	+			2596					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Silent	SNP	ENST00000344113.4	37	c.7786T>C	CCDS41963.1																																																																																				0.358	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		18	15	0	0	0	1	0	18	15				
CSPP1	79848	broad.mit.edu	37	8	68049788	68049788	+	Missense_Mutation	SNP	G	G	T			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr8:68049788G>T	ENST00000262210.5	+	15	1941	c.1910G>T	c.(1909-1911)gGa>gTa	p.G637V	CSPP1_ENST00000412460.1_Missense_Mutation_p.G343V	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	672					positive regulation of cell division (GO:0051781)|positive regulation of cytokinesis (GO:0032467)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|spindle (GO:0005819)|spindle pole (GO:0000922)				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			AATCCCTGGGGAAAAGGTGGA	0.343																																						ENST00000262210.5																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49						c.(1909-1911)gGa>gTa		centrosome and spindle pole associated protein 1							86.0	90.0	89.0					8																	68049788		1847	4087	5934	SO:0001583	missense	79848					centrosome|microtubule|spindle		g.chr8:68049788G>T	AJ583433	CCDS43744.1	8q13.2	2014-02-24			ENSG00000104218	ENSG00000104218			26193	protein-coding gene	gene with protein product		611654				15580290, 24360807	Standard	NM_024790		Approved	FLJ22490, CSPP, JBTS21	uc003xxj.3	Q1MSJ5	OTTHUMG00000164564	ENST00000262210.5:c.1910G>T	8.37:g.68049788G>T	ENSP00000262210:p.Gly637Val					CSPP1_ENST00000412460.1_Missense_Mutation_p.G343V	p.G637V	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)		15	1941	+	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	672					A6ND63|Q70F00|Q8TBC1	Missense_Mutation	SNP	ENST00000262210.5	37	c.1910G>T	CCDS43744.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.700147	0.88924	.	.	ENSG00000104218	ENST00000262210;ENST00000389042;ENST00000412460;ENST00000519668	D;D;D	0.86769	-2.17;-2.17;-2.17	5.36	5.36	0.76844	.	0.000000	0.64402	D	0.000001	D	0.92763	0.7699	M	0.64170	1.965	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.93142	0.6542	10	0.87932	D	0	-19.031	19.0512	0.93046	0.0:0.0:1.0:0.0	.	343;637;672;672	Q1MSJ5-2;Q1MSJ5-1;Q1MSJ5;F8W7C3	.;.;CSPP1_HUMAN;.	V	637;672;343;343	ENSP00000262210:G637V;ENSP00000415782:G343V;ENSP00000430092:G343V	ENSP00000262210:G637V	G	+	2	0	CSPP1	68212342	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	8.217000	0.89766	2.668000	0.90789	0.460000	0.39030	GGA		0.343	CSPP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379254.1	NM_024790		4	6	1	0	1.23904e-05	1	1.29024e-05	4	6				
PKD1L2	114780	broad.mit.edu	37	16	81181018	81181018	+	RNA	SNP	G	G	A	rs576753742		TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr16:81181018G>A	ENST00000525539.1	-	0	5072				PKD1L2_ENST00000533478.1_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CCACCAAGGCGAGGAGACTGT	0.517													G|||	1	0.000199681	0.0	0.0	5008	,	,		21654	0.001		0.0	False		,,,				2504	0.0					ENST00000525539.1																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44								polycystic kidney disease 1-like 2							132.0	133.0	132.0					16																	81181018		1965	4150	6115			114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81181018G>A	AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81181018G>A						PKD1L2_ENST00000533478.1_RNA		NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN			0	5072	-								Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	RNA	SNP	ENST00000525539.1	37																																																																																						0.517	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387972.2			17	58	0	0	0	1	0	17	58				
DET1	55070	broad.mit.edu	37	15	89056289	89056289	+	Missense_Mutation	SNP	G	G	A	rs376592225		TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr15:89056289G>A	ENST00000268148.8	-	5	1691	c.1546C>T	c.(1546-1548)Cgc>Tgc	p.R516C	RP11-97O12.7_ENST00000606219.1_RNA|DET1_ENST00000564406.1_Missense_Mutation_p.R527C|DET1_ENST00000444300.1_Missense_Mutation_p.R527C	NM_001144074.1	NP_001137546.1	Q7L5Y6	DET1_HUMAN	de-etiolated homolog 1 (Arabidopsis)	516						nucleus (GO:0005634)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Lung NSC(78;0.105)|all_lung(78;0.182)		BRCA - Breast invasive adenocarcinoma(143;0.188)			GCAACAAGGCGTCGCACTGTG	0.517																																						ENST00000564406.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(1579-1581)Cgc>Tgc		de-etiolated homolog 1 (Arabidopsis)		G	CYS/ARG,CYS/ARG	0,3992		0,0,1996	73.0	72.0	73.0		1546,1579	4.3	1.0	15		73	1,8313		0,1,4156	no	missense,missense	DET1	NM_001144074.1,NM_017996.3	180,180	0,1,6152	AA,AG,GG		0.012,0.0,0.0081	probably-damaging,probably-damaging	516/551,527/562	89056289	1,12305	1996	4157	6153	SO:0001583	missense	55070					nucleus		g.chr15:89056289G>A	BC001242	CCDS45343.1, CCDS45344.1	15q25.3	2004-12-13				ENSG00000140543			25477	protein-coding gene	gene with protein product		608727				14739464	Standard	NM_001144074		Approved	FLJ10103	uc002bmq.2	Q7L5Y6		ENST00000268148.8:c.1546C>T	15.37:g.89056289G>A	ENSP00000268148:p.Arg516Cys					DET1_ENST00000268148.8_Missense_Mutation_p.R516C|DET1_ENST00000444300.1_Missense_Mutation_p.R527C	p.R527C	NM_017996.3	NP_060466.2	Q7L5Y6	DET1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.188)		6	1739	-	Lung NSC(78;0.105)|all_lung(78;0.182)		516					B3KNN6|Q2VPC0|Q9NWD5	Missense_Mutation	SNP	ENST00000268148.8	37	c.1579C>T	CCDS45344.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.301400	0.81136	0.0	1.2E-4	ENSG00000140543	ENST00000444300;ENST00000268148	.	.	.	6.17	4.3	0.51218	.	0.000000	0.85682	D	0.000000	T	0.76485	0.3994	M	0.81942	2.565	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.78331	-0.2245	9	0.87932	D	0	-25.7751	7.4887	0.27449	0.1385:0.0:0.7284:0.1331	.	516;527	Q7L5Y6;B3KNN6	DET1_HUMAN;.	C	527;516	.	ENSP00000268148:R516C	R	-	1	0	DET1	86857293	1.000000	0.71417	0.992000	0.48379	0.994000	0.84299	6.084000	0.71335	1.633000	0.50488	0.655000	0.94253	CGC		0.517	DET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415442.2	NM_017996		11	23	0	0	0	1	0	11	23				
SERPINB4	6318	broad.mit.edu	37	18	61305114	61305114	+	Missense_Mutation	SNP	C	C	T	rs141049494		TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr18:61305114C>T	ENST00000341074.5	-	8	1127	c.1012G>A	c.(1012-1014)Gag>Aag	p.E338K	SERPINB4_ENST00000356424.6_Missense_Mutation_p.E286K	NM_002974.2	NP_002965.1	P48594	SPB4_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 4	338					negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						ACTCCCTCCTCAGTGACCTCC	0.483																																						ENST00000341074.5																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						c.(1012-1014)Gag>Aag		serpin peptidase inhibitor, clade B (ovalbumin), member 4		C	LYS/GLU	2,4404	4.2+/-10.8	0,2,2201	103.0	99.0	100.0		1012	4.5	0.2	18	dbSNP_134	100	0,8600		0,0,4300	no	missense	SERPINB4	NM_002974.2	56	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		338/391	61305114	2,13004	2203	4300	6503	SO:0001583	missense	6318							g.chr18:61305114C>T	X89015	CCDS11986.1	18q21.33	2014-02-18	2005-08-18		ENSG00000206073	ENSG00000206073		"""Serine (or cysteine) peptidase inhibitors"""	10570	protein-coding gene	gene with protein product	"""squamous cell carcinoma antigen 2"""	600518	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 4"""	SCCA2		7724531, 14630915, 24172014	Standard	NM_175041		Approved	PI11, LEUPIN, SCCA-2, SCCA1		P48594	OTTHUMG00000060405	ENST00000341074.5:c.1012G>A	18.37:g.61305114C>T	ENSP00000343445:p.Glu338Lys					SERPINB4_ENST00000356424.6_Missense_Mutation_p.E286K	p.E338K	NM_002974.2	NP_002965.1					8	1127	-								A8K847	Missense_Mutation	SNP	ENST00000341074.5	37	c.1012G>A	CCDS11986.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.965668	0.92855	4.54E-4	0.0	ENSG00000206073	ENST00000341074;ENST00000356424	D;D	0.91894	-2.93;-2.93	4.51	4.51	0.55191	Serpin domain (3);	0.000000	0.42053	D	0.000778	D	0.97660	0.9233	H	0.98155	4.16	0.47862	D	0.999537	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.99100	1.0843	10	0.87932	D	0	.	16.7417	0.85461	0.0:1.0:0.0:0.0	.	338;338;317	Q5K684;P48594;Q9BYF7	.;SPB4_HUMAN;.	K	338;286	ENSP00000343445:E338K;ENSP00000348795:E286K	ENSP00000343445:E338K	E	-	1	0	SERPINB4	59456094	1.000000	0.71417	0.240000	0.24138	0.055000	0.15305	5.639000	0.67868	2.488000	0.83962	0.609000	0.83330	GAG		0.483	SERPINB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133794.2	NM_175041		30	14	0	0	0	1	0	30	14				
SIAH1	6477	broad.mit.edu	37	16	48396241	48396241	+	Missense_Mutation	SNP	A	A	C			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr16:48396241A>C	ENST00000380006.2	-	1	1552	c.99T>G	c.(97-99)aaT>aaG	p.N33K	SIAH1_ENST00000573005.1_5'Flank|SIAH1_ENST00000394725.2_Missense_Mutation_p.N33K|SIAH1_ENST00000356721.3_Missense_Mutation_p.N64K			Q8IUQ4	SIAH1_HUMAN	siah E3 ubiquitin protein ligase 1	33					anatomical structure morphogenesis (GO:0009653)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell cycle (GO:0007049)|nervous system development (GO:0007399)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein catabolic process (GO:0030163)|protein destabilization (GO:0031648)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|proteolysis (GO:0006508)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	beta-catenin destruction complex (GO:0030877)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ligase activity (GO:0016874)|protein C-terminus binding (GO:0008022)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|stomach(1)	7		all_cancers(37;0.157)|all_lung(18;0.11)|Breast(268;0.238)				TCGCCAAGTCATTGTTGGATG	0.512																																						ENST00000380006.2																			0				endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|stomach(1)	7						c.(97-99)aaT>aaG		siah E3 ubiquitin protein ligase 1							98.0	86.0	90.0					16																	48396241		2200	4300	6500	SO:0001583	missense	6477				axon guidance|cell cycle|neuron apoptosis|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	beta-catenin destruction complex|cytosol|nucleus	protein C-terminus binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:48396241A>C	U76247	CCDS10735.1, CCDS32444.1	16q12.1	2013-06-03	2012-02-23		ENSG00000196470	ENSG00000196470			10857	protein-coding gene	gene with protein product		602212	"""seven in absentia homolog 1 (Drosophila)"""			9403064, 9334332	Standard	NM_001006610		Approved	hSIAH1	uc002efo.1	Q8IUQ4	OTTHUMG00000175417	ENST00000380006.2:c.99T>G	16.37:g.48396241A>C	ENSP00000369343:p.Asn33Lys					SIAH1_ENST00000356721.3_Missense_Mutation_p.N64K|SIAH1_ENST00000394725.2_Missense_Mutation_p.N33K	p.N33K			Q8IUQ4	SIAH1_HUMAN			1	1552	-		all_cancers(37;0.157)|all_lung(18;0.11)|Breast(268;0.238)	33					A0FKF3|O43269|Q49A58|Q92880	Missense_Mutation	SNP	ENST00000380006.2	37	c.99T>G	CCDS10735.1	.	.	.	.	.	.	.	.	.	.	A	11.47	1.647737	0.29336	.	.	ENSG00000196470	ENST00000356721;ENST00000394725;ENST00000380006	.	.	.	5.5	5.5	0.81552	Zinc finger, RING/FYVE/PHD-type (1);	0.113321	0.64402	U	0.000020	T	0.50343	0.1610	L	0.29908	0.895	0.50813	D	0.999892	B;B	0.20261	0.003;0.043	B;B	0.29077	0.017;0.098	T	0.44651	-0.9314	9	0.07175	T	0.84	-12.4504	15.5965	0.76587	1.0:0.0:0.0:0.0	.	33;64	Q8IUQ4;Q8IUQ4-2	SIAH1_HUMAN;.	K	64;33;49	.	ENSP00000349156:N64K	N	-	3	2	SIAH1	46953742	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.861000	0.56002	2.094000	0.63399	0.533000	0.62120	AAT		0.512	SIAH1-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256842.12			17	25	0	0	0	1	0	17	25				
ZNF407	55628	broad.mit.edu	37	18	72593061	72593061	+	Missense_Mutation	SNP	G	G	A	rs201710285		TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr18:72593061G>A	ENST00000299687.5	+	5	5114	c.5114G>A	c.(5113-5115)cGc>cAc	p.R1705H	ZNF407_ENST00000584235.1_3'UTR|ZNF407_ENST00000577538.1_Missense_Mutation_p.R1705H	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1705					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		ACCAAGCATCGCAGACAGCAC	0.567													G|||	1	0.000199681	0.0008	0.0	5008	,	,		14197	0.0		0.0	False		,,,				2504	0.0					ENST00000299687.5																			0				central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67						c.(5113-5115)cGc>cAc		zinc finger protein 407							24.0	28.0	27.0					18																	72593061		2034	4184	6218	SO:0001583	missense	55628				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:72593061G>A	AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"""Zinc fingers, C2H2-type"""	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.5114G>A	18.37:g.72593061G>A	ENSP00000299687:p.Arg1705His					ZNF407_ENST00000584235.1_3'UTR|ZNF407_ENST00000577538.1_Missense_Mutation_p.R1705H	p.R1705H	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.184)	5	5114	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	1705					B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Missense_Mutation	SNP	ENST00000299687.5	37	c.5114G>A	CCDS45885.1	.	.	.	.	.	.	.	.	.	.	G	17.23	3.336565	0.60963	.	.	ENSG00000215421	ENST00000299687	T	0.18502	2.21	5.23	5.23	0.72850	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.085780	0.42420	D	0.000716	T	0.36826	0.0981	L	0.43923	1.385	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.994;0.997	T	0.00189	-1.1938	10	0.51188	T	0.08	.	17.3518	0.87327	0.0:0.0:1.0:0.0	.	1705;1705	Q9C0G0-2;Q9C0G0	.;ZN407_HUMAN	H	1705	ENSP00000299687:R1705H	ENSP00000299687:R1705H	R	+	2	0	ZNF407	70722049	1.000000	0.71417	0.285000	0.24819	0.907000	0.53573	7.519000	0.81809	-0.589000	0.05874	-0.152000	0.13540	CGC		0.567	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757		2	1	0	0	0	1	0	2	1				
NUS1	116150	broad.mit.edu	37	6	118028143	118028143	+	Nonsense_Mutation	SNP	C	C	T			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr6:118028143C>T	ENST00000368494.3	+	5	1016	c.847C>T	c.(847-849)Caa>Taa	p.Q283*		NM_138459.3	NP_612468.1	Q96E22	NGBR_HUMAN	nuclear undecaprenyl pyrophosphate synthase 1 homolog (S. cerevisiae)	283					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|intracellular cholesterol transport (GO:0032367)|protein glycosylation (GO:0006486)|sterol homeostasis (GO:0055092)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transferase activity, transferring alkyl or aryl (other than methyl) groups (GO:0016765)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|prostate(2)	8		all_cancers(87;0.0395)|all_epithelial(87;0.0301)		GBM - Glioblastoma multiforme(226;0.02)|OV - Ovarian serous cystadenocarcinoma(136;0.115)|all cancers(137;0.146)		TGCCCTTCGTCAATATGCAGC	0.438																																						ENST00000368494.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|prostate(2)	8						c.(847-849)Caa>Taa		nuclear undecaprenyl pyrophosphate synthase 1 homolog (S. cerevisiae)							101.0	103.0	102.0					6																	118028143		2203	4296	6499	SO:0001587	stop_gained	116150				angiogenesis|cell differentiation	integral to membrane	receptor activity|transferase activity, transferring alkyl or aryl (other than methyl) groups	g.chr6:118028143C>T	BC013026	CCDS5118.1	6q22.1	2012-12-13	2006-11-24	2006-11-24	ENSG00000153989	ENSG00000153989			21042	protein-coding gene	gene with protein product	"""Nogo-B receptor"", ""transport and golgi organization 14 homolog (Drosophila)"""	610463	"""chromosome 6 open reading frame 68"""	C6orf68			Standard	NM_138459		Approved	MGC7199, NgBR, TANGO14	uc003pxw.3	Q96E22	OTTHUMG00000015458	ENST00000368494.3:c.847C>T	6.37:g.118028143C>T	ENSP00000357480:p.Gln283*						p.Q283*	NM_138459.3	NP_612468.1	Q96E22	NGBR_HUMAN		GBM - Glioblastoma multiforme(226;0.02)|OV - Ovarian serous cystadenocarcinoma(136;0.115)|all cancers(137;0.146)	5	1016	+		all_cancers(87;0.0395)|all_epithelial(87;0.0301)	283					B2RWQ4|O00251	Nonsense_Mutation	SNP	ENST00000368494.3	37	c.847C>T	CCDS5118.1	.	.	.	.	.	.	.	.	.	.	C	33	5.254197	0.95336	.	.	ENSG00000153989	ENST00000368494	.	.	.	5.83	4.96	0.65561	.	0.230771	0.44285	D	0.000473	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	-1.7988	10.5617	0.45150	0.0:0.8567:0.0:0.1433	.	.	.	.	X	283	.	ENSP00000357480:Q283X	Q	+	1	0	NUS1	118134836	1.000000	0.71417	0.988000	0.46212	0.697000	0.40408	3.152000	0.50677	2.773000	0.95371	0.650000	0.86243	CAA		0.438	NUS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041989.1	NM_138459		26	22	0	0	0	1	0	26	22				
MPP2	4355	broad.mit.edu	37	17	41958856	41958856	+	Silent	SNP	G	G	A	rs76832034	byFrequency	TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr17:41958856G>A	ENST00000461854.1	-	8	940	c.855C>T	c.(853-855)atC>atT	p.I285I	MPP2_ENST00000269095.4_Silent_p.I261I|MPP2_ENST00000520305.1_Silent_p.I122I|MPP2_ENST00000377184.3_Silent_p.I278I|MPP2_ENST00000536246.1_Silent_p.I250I|MPP2_ENST00000473246.1_5'Flank|MPP2_ENST00000523501.1_Silent_p.I250I|MPP2_ENST00000518766.1_Silent_p.I306I			Q14168	MPP2_HUMAN	membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)	285	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		CCTGGTTTACGATCTGGAGCA	0.607													g|||	6	0.00119808	0.0045	0.0	5008	,	,		19142	0.0		0.0	False		,,,				2504	0.0					ENST00000269095.4																			0				breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29						c.(781-783)atC>atT		membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)		G		17,4389	24.3+/-50.5	0,17,2186	90.0	82.0	85.0		783	-4.0	0.9	17	dbSNP_132	85	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	MPP2	NM_005374.3		0,18,6485	AA,AG,GG		0.0116,0.3858,0.1384		261/553	41958856	18,12988	2203	4300	6503	SO:0001819	synonymous_variant	4355				signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity	g.chr17:41958856G>A		CCDS11471.1, CCDS62206.1, CCDS62207.1, CCDS62208.1, CCDS62209.1, CCDS62210.1	17q12-q21	2008-07-18			ENSG00000108852	ENSG00000108852			7220	protein-coding gene	gene with protein product	"""MAGUK p55 subfamily member 2"", ""discs large, homolog 2"""	600723		DLG2		7590743	Standard	NM_001278370		Approved	DKFZp761D0712	uc002ieo.1	Q14168	OTTHUMG00000133840	ENST00000461854.1:c.855C>T	17.37:g.41958856G>A						MPP2_ENST00000523501.1_Silent_p.I250I|MPP2_ENST00000518766.1_Silent_p.I306I|MPP2_ENST00000461854.1_Silent_p.I285I|MPP2_ENST00000377184.3_Silent_p.I278I|MPP2_ENST00000536246.1_Silent_p.I250I|MPP2_ENST00000520305.1_Silent_p.I122I	p.I261I	NM_001278370.1|NM_001278381.1|NM_005374.3	NP_001265299.1|NP_001265310.1|NP_005365.3	Q14168	MPP2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.12)	7	1087	-		Breast(137;0.00314)	285			SH3.		B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Silent	SNP	ENST00000461854.1	37	c.783C>T																																																																																					0.607	MPP2-003	KNOWN	non_canonical_polymorphism|basic	protein_coding	protein_coding	OTTHUMT00000258388.2	NM_005374		44	68	0	0	0	1	0	44	68				
STAB2	55576	broad.mit.edu	37	12	104142867	104142867	+	Missense_Mutation	SNP	T	T	C			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr12:104142867T>C	ENST00000388887.2	+	59	6575	c.6371T>C	c.(6370-6372)aTa>aCa	p.I2124T	RP11-341G23.4_ENST00000551299.1_RNA	NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TGCACAGAGATAGACCCCTGT	0.607																																						ENST00000388887.2																			0				NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						c.(6370-6372)aTa>aCa		stabilin 2							72.0	68.0	69.0					12																	104142867		2203	4300	6503	SO:0001583	missense	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104142867T>C	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.6371T>C	12.37:g.104142867T>C	ENSP00000373539:p.Ile2124Thr					RP11-341G23.4_ENST00000551299.1_RNA	p.I2124T	NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN			59	6575	+			2124			EGF-like 17.			Missense_Mutation	SNP	ENST00000388887.2	37	c.6371T>C	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	T	14.39	2.522374	0.44866	.	.	ENSG00000136011	ENST00000388887;ENST00000258495	T	0.69175	-0.38	5.29	5.29	0.74685	Epidermal growth factor-like, type 3 (1);	0.333731	0.31721	N	0.007175	T	0.73102	0.3544	M	0.86573	2.825	0.09310	N	0.999996	P	0.45396	0.857	B	0.43575	0.424	T	0.70146	-0.4952	10	0.33940	T	0.23	.	15.2262	0.73354	0.0:0.0:0.0:1.0	.	2124	Q8WWQ8	STAB2_HUMAN	T	2124;811	ENSP00000373539:I2124T	ENSP00000258495:I811T	I	+	2	0	STAB2	102666997	0.982000	0.34865	0.346000	0.25655	0.648000	0.38561	5.619000	0.67729	2.020000	0.59435	0.374000	0.22700	ATA		0.607	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			26	36	0	0	0	1	0	26	36				
CCNF	899	broad.mit.edu	37	16	2498953	2498953	+	Missense_Mutation	SNP	G	G	T			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr16:2498953G>T	ENST00000397066.4	+	11	1280	c.1192G>T	c.(1192-1194)Gtc>Ttc	p.V398F		NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN	cyclin F	398	Cyclin N-terminal.				mitotic nuclear division (GO:0007067)|negative regulation of centrosome duplication (GO:0010826)|placenta development (GO:0001890)|protein ubiquitination (GO:0016567)|re-entry into mitotic cell cycle (GO:0000320)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	centriole (GO:0005814)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				GGGCGAGATCGTCTCCGCCTT	0.522																																						ENST00000397066.4																			0				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20						c.(1192-1194)Gtc>Ttc		cyclin F							106.0	92.0	96.0					16																	2498953		2198	4300	6498	SO:0001583	missense	899				cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	centriole|nucleus|SCF ubiquitin ligase complex	protein binding	g.chr16:2498953G>T	Z36714	CCDS10467.1	16p13.3	2008-02-05			ENSG00000162063	ENSG00000162063		"""F-boxes /  ""other"""""	1591	protein-coding gene	gene with protein product		600227				7896286	Standard	NM_001761		Approved	FBX1, FBXO1	uc002cqd.1	P41002	OTTHUMG00000128858	ENST00000397066.4:c.1192G>T	16.37:g.2498953G>T	ENSP00000380256:p.Val398Phe						p.V398F	NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN			11	1280	+		Ovarian(90;0.17)	398			Cyclin N-terminal.		B2R8H3|Q96EG9	Missense_Mutation	SNP	ENST00000397066.4	37	c.1192G>T	CCDS10467.1	.	.	.	.	.	.	.	.	.	.	G	15.22	2.769909	0.49680	.	.	ENSG00000162063	ENST00000397066;ENST00000293968	T	0.11712	2.75	5.39	0.00659	0.14068	Cyclin, N-terminal (1);Cyclin-like (3);	0.402308	0.28665	N	0.014544	T	0.09158	0.0226	L	0.38953	1.18	0.29898	N	0.824601	B	0.30511	0.282	B	0.34722	0.188	T	0.12993	-1.0526	10	0.48119	T	0.1	-9.4837	9.1369	0.36879	0.7608:0.0:0.2392:0.0	.	398	P41002	CCNF_HUMAN	F	398;313	ENSP00000380256:V398F	ENSP00000293968:V313F	V	+	1	0	CCNF	2438954	0.747000	0.28283	0.118000	0.21660	0.899000	0.52679	0.263000	0.18478	0.090000	0.17273	0.462000	0.41574	GTC		0.522	CCNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250801.1	NM_001761		33	60	1	0	2.85442e-18	1	3.21122e-18	33	60				
SLC17A6	57084	broad.mit.edu	37	11	22382523	22382523	+	Silent	SNP	C	C	T			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr11:22382523C>T	ENST00000263160.3	+	5	1091	c.654C>T	c.(652-654)tcC>tcT	p.S218S	CTD-2140G10.4_ENST00000534543.1_RNA	NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	218					ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						CAACCACCTCCTTTTGTGGTG	0.463																																						ENST00000263160.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						c.(652-654)tcC>tcT		solute carrier family 17 (vesicular glutamate transporter), member 6							143.0	109.0	121.0					11																	22382523		2203	4300	6503	SO:0001819	synonymous_variant	57084				sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	g.chr11:22382523C>T	AB032435	CCDS7856.1	11p14.3	2013-07-18	2013-07-18		ENSG00000091664	ENSG00000091664		"""Solute carriers"""	16703	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 2"", ""differentiation-associated Na-dependent inorganic phosphate cotransporter"""	607563	"""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6"""			11306821	Standard	NM_020346		Approved	DNPI, VGLUT2	uc001mqk.3	Q9P2U8	OTTHUMG00000166063	ENST00000263160.3:c.654C>T	11.37:g.22382523C>T							p.S218S	NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN			5	1091	+			218					A6NKS2	Silent	SNP	ENST00000263160.3	37	c.654C>T	CCDS7856.1																																																																																				0.463	SLC17A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387671.1	NM_020346		16	16	0	0	0	1	0	16	16				
ATMIN	23300	broad.mit.edu	37	16	81078035	81078035	+	Silent	SNP	C	C	T			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr16:81078035C>T	ENST00000299575.4	+	4	1956	c.1932C>T	c.(1930-1932)gcC>gcT	p.A644A	ATMIN_ENST00000564241.1_Silent_p.A488A|ATMIN_ENST00000539819.1_3'UTR|ATMIN_ENST00000566488.1_Silent_p.A488A	NM_015251.2	NP_056066.2	O43313	ATMIN_HUMAN	ATM interactor	644					cellular response to DNA damage stimulus (GO:0006974)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dynein binding (GO:0045502)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						TCTTTTCGGCCTCAAATATCC	0.493																																						ENST00000566488.1																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						c.(1462-1464)gcC>gcT		ATM interactor							51.0	54.0	53.0					16																	81078035		2202	4300	6502	SO:0001819	synonymous_variant	23300				response to DNA damage stimulus	nucleus	zinc ion binding	g.chr16:81078035C>T	BC002701	CCDS32494.1, CCDS73917.1	16q23.2	2013-01-07			ENSG00000166454	ENSG00000166454		"""Zinc fingers, C2H2-type"""	29034	protein-coding gene	gene with protein product	"""ATM/ATR-Substrate Chk2-Interacting Zn++-finger protein"", ""ATM INteracting protein"""	614693				15933716, 17525732, 19001856	Standard	XM_005255866		Approved	ASCIZ, KIAA0431, ZNF822	uc002ffz.1	O43313	OTTHUMG00000176469	ENST00000299575.4:c.1932C>T	16.37:g.81078035C>T						ATMIN_ENST00000299575.4_Silent_p.A644A|ATMIN_ENST00000539819.1_3'UTR|ATMIN_ENST00000564241.1_Silent_p.A488A	p.A488A			O43313	ATMIN_HUMAN			3	2427	+			644					A8K4H8|Q68DC9	Silent	SNP	ENST00000299575.4	37	c.1464C>T	CCDS32494.1																																																																																				0.493	ATMIN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432140.1	NM_015251		20	32	0	0	0	1	0	20	32				
DGCR8	54487	broad.mit.edu	37	22	20093767	20093767	+	Missense_Mutation	SNP	C	C	G			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr22:20093767C>G	ENST00000351989.3	+	10	2285	c.1856C>G	c.(1855-1857)tCt>tGt	p.S619C	DGCR8_ENST00000407755.1_Missense_Mutation_p.S586C|DGCR8_ENST00000383024.2_Missense_Mutation_p.S586C	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	619	Necessary for heme-binding and pri-miRNA processing.|Necessary for interaction with DROSHA.				gene expression (GO:0010467)|primary miRNA processing (GO:0031053)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					GGGCTGTTGTCTCCATATCAG	0.557																																						ENST00000351989.3																			0				NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1855-1857)tCt>tGt		DGCR8 microprocessor complex subunit							64.0	61.0	62.0					22																	20093767		2203	4300	6503	SO:0001583	missense	54487				primary miRNA processing	cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding	g.chr22:20093767C>G	AF165527, AB050770	CCDS13773.1, CCDS54501.1	22q11.2	2013-05-02	2013-05-02		ENSG00000128191	ENSG00000128191			2847	protein-coding gene	gene with protein product		609030	"""chromosome 22 open reading frame 12"", ""DiGeorge syndrome critical region gene 8"""	C22orf12		21454614	Standard	NM_001190326		Approved	DGCRK6, Gy1, pasha	uc002zri.3	Q8WYQ5	OTTHUMG00000150503	ENST00000351989.3:c.1856C>G	22.37:g.20093767C>G	ENSP00000263209:p.Ser619Cys					DGCR8_ENST00000383024.2_Missense_Mutation_p.S586C|DGCR8_ENST00000407755.1_Missense_Mutation_p.S586C	p.S619C	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN			10	2285	+	Colorectal(54;0.0993)		619			Necessary for heme-binding and pri-miRNA processing.|Necessary for interaction with DROSHA.		B2R8G1|Q6DCB2|Q6MZE9|Q6Y2L0|Q96G39|Q96GP8|Q9H6L8|Q9H6T7|Q9NRW2	Missense_Mutation	SNP	ENST00000351989.3	37	c.1856C>G	CCDS13773.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.753329	0.89753	.	.	ENSG00000128191	ENST00000351989;ENST00000383024;ENST00000407755	T;T;T	0.37058	1.22;1.32;1.32	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.58552	0.2130	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.987	T	0.61922	-0.6963	10	0.87932	D	0	-12.455	16.9668	0.86288	0.0:1.0:0.0:0.0	.	586;619	Q8WYQ5-3;Q8WYQ5	.;DGCR8_HUMAN	C	619;586;586	ENSP00000263209:S619C;ENSP00000372488:S586C;ENSP00000384726:S586C	ENSP00000263209:S619C	S	+	2	0	DGCR8	18473767	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.044000	0.76578	2.532000	0.85374	0.467000	0.42956	TCT		0.557	DGCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318654.1			23	31	0	0	0	1	0	23	31				
OR1D2	4991	broad.mit.edu	37	17	2996005	2996005	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr17:2996005C>T	ENST00000331459.1	-	1	285	c.286G>A	c.(286-288)Ggg>Agg	p.G96R		NM_002548.2	NP_002539.2	P34982	OR1D2_HUMAN	olfactory receptor, family 1, subfamily D, member 2	96					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|G-protein coupled receptor signaling pathway (GO:0007186)|protein import into nucleus, translocation (GO:0000060)|sensory perception of smell (GO:0007608)|single fertilization (GO:0007338)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						GTCAGACACCCTGCATAGGAG	0.547																																						ENST00000331459.1																			0				kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						c.(286-288)Ggg>Agg		olfactory receptor, family 1, subfamily D, member 2							185.0	186.0	186.0					17																	2996005		2203	4300	6503	SO:0001583	missense	4991				cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity	g.chr17:2996005C>T	U04678	CCDS11019.1	17p13.3	2012-08-09			ENSG00000184166	ENSG00000184166		"""GPCR / Class A : Olfactory receptors"""	8183	protein-coding gene	gene with protein product		164342		OLFR1		1370859, 1840504	Standard	NM_002548		Approved	OR17-4	uc010vrb.2	P34982	OTTHUMG00000090619	ENST00000331459.1:c.286G>A	17.37:g.2996005C>T	ENSP00000327585:p.Gly96Arg						p.G96R	NM_002548.2	NP_002539.2	P34982	OR1D2_HUMAN			1	285	-			96					Q6IFL8|Q96RA4|Q9UM78	Missense_Mutation	SNP	ENST00000331459.1	37	c.286G>A	CCDS11019.1	.	.	.	.	.	.	.	.	.	.	c	12.02	1.813859	0.32053	.	.	ENSG00000184166	ENST00000331459	T	0.09817	2.94	3.0	2.01	0.26516	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.16727	0.0402	M	0.82716	2.605	0.27682	N	0.946412	B	0.16396	0.017	B	0.17979	0.02	T	0.12941	-1.0528	9	0.66056	D	0.02	.	8.7003	0.34320	0.0:0.8799:0.0:0.1201	.	96	P34982	OR1D2_HUMAN	R	96	ENSP00000327585:G96R	ENSP00000327585:G96R	G	-	1	0	OR1D2	2942755	0.010000	0.17322	0.894000	0.35097	0.812000	0.45895	1.323000	0.33701	0.449000	0.26747	0.543000	0.68304	GGG		0.547	OR1D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207207.1	NM_002548		45	87	0	0	0	1	0	45	87				
CEACAM7	1087	broad.mit.edu	37	19	42190949	42190949	+	Missense_Mutation	SNP	T	T	A			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr19:42190949T>A	ENST00000006724.3	-	2	469	c.268A>T	c.(268-270)Aat>Tat	p.N90Y	CEACAM7_ENST00000602225.1_Missense_Mutation_p.N90Y|CEACAM7_ENST00000401731.1_Missense_Mutation_p.N90Y|CEACAM7_ENST00000338196.4_Missense_Mutation_p.N90Y|CEACAM7_ENST00000599715.1_5'UTR	NM_006890.3	NP_008821.1	Q14002	CEAM7_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 7	90	Ig-like V-type.					anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		CCTGGGGCATTTTCTTGACTT	0.453																																						ENST00000006724.3																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						c.(268-270)Aat>Tat		carcinoembryonic antigen-related cell adhesion molecule 7							160.0	171.0	168.0					19																	42190949		2203	4300	6503	SO:0001583	missense	1087					anchored to membrane|integral to membrane|plasma membrane		g.chr19:42190949T>A	X98311	CCDS12583.1	19q13.2	2013-01-29			ENSG00000007306	ENSG00000007306		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1819	protein-coding gene	gene with protein product	"""carcinoembryonic antigen gene family member 2"""			CGM2		7806520, 9135022	Standard	XM_005278379		Approved	CEA	uc002ori.1	Q14002	OTTHUMG00000151063	ENST00000006724.3:c.268A>T	19.37:g.42190949T>A	ENSP00000006724:p.Asn90Tyr					CEACAM7_ENST00000602225.1_Missense_Mutation_p.N90Y|CEACAM7_ENST00000338196.4_Missense_Mutation_p.N90Y|CEACAM7_ENST00000599715.1_5'UTR|CEACAM7_ENST00000401731.1_Missense_Mutation_p.N90Y	p.N90Y	NM_006890.3	NP_008821.1	Q14002	CEAM7_HUMAN		OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)	2	469	-			90			Ig-like V-type.		A8K848|O15148|O15149|Q0VAC1|Q13983|Q9UPJ2	Missense_Mutation	SNP	ENST00000006724.3	37	c.268A>T	CCDS12583.1	.	.	.	.	.	.	.	.	.	.	T	0.055	-1.239714	0.01493	.	.	ENSG00000007306	ENST00000006724;ENST00000401731;ENST00000338196	T;T;T	0.66280	-0.2;-0.2;-0.2	1.68	-2.93	0.05598	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.47893	0.1470	N	0.20483	0.58	0.09310	N	1	P;B	0.34662	0.462;0.024	P;B	0.44518	0.452;0.051	T	0.50268	-0.8848	9	0.66056	D	0.02	.	3.5046	0.07685	0.226:0.0:0.457:0.3169	.	90;90	Q14002-2;Q14002	.;CEAM7_HUMAN	Y	90	ENSP00000006724:N90Y;ENSP00000385932:N90Y;ENSP00000343286:N90Y	ENSP00000006724:N90Y	N	-	1	0	CEACAM7	46882789	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.208000	0.03005	-0.970000	0.03569	-0.991000	0.02546	AAT		0.453	CEACAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321145.1	NM_006890		46	72	0	0	0	1	0	46	72				
SLC7A11	23657	broad.mit.edu	37	4	139104420	139104420	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr4:139104420C>T	ENST00000280612.5	-	8	1234	c.955G>A	c.(955-957)Gtt>Att	p.V319I		NM_014331.3	NP_055146.1	Q9UPY5	XCT_HUMAN	solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11	319					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|brain development (GO:0007420)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|lens fiber cell differentiation (GO:0070306)|leukocyte migration (GO:0050900)|platelet aggregation (GO:0070527)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	cystine:glutamate antiporter activity (GO:0015327)			breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)	18	all_hematologic(180;0.166)				Acetylcysteine(DB06151)|L-Cystine(DB00138)|Riluzole(DB00740)|Rosuvastatin(DB01098)|Sulfasalazine(DB00795)|Tauroursodeoxycholic acid(DB08834)	AAGATCGGAACTGCTAATGAG	0.428																																						ENST00000280612.5																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)	18						c.(955-957)Gtt>Att		solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11	L-Cystine(DB00138)|L-Glutamic Acid(DB00142)|Sulfasalazine(DB00795)						71.0	62.0	65.0					4																	139104420		2203	4300	6503	SO:0001583	missense	23657				blood coagulation|cellular nitrogen compound metabolic process|leukocyte migration|response to toxin	integral to membrane|plasma membrane	cystine:glutamate antiporter activity|protein binding	g.chr4:139104420C>T	AB026891	CCDS3742.1	4q28-q32	2013-05-22	2011-07-12		ENSG00000151012	ENSG00000151012		"""Solute carriers"""	11059	protein-coding gene	gene with protein product		607933				10206947, 12763038	Standard	XM_005262875		Approved	xCT	uc021xrw.1	Q9UPY5	OTTHUMG00000133396	ENST00000280612.5:c.955G>A	4.37:g.139104420C>T	ENSP00000280612:p.Val319Ile						p.V319I	NM_014331.3	NP_055146.1	Q9UPY5	XCT_HUMAN			8	1234	-	all_hematologic(180;0.166)		319					A8K2U4	Missense_Mutation	SNP	ENST00000280612.5	37	c.955G>A	CCDS3742.1	.	.	.	.	.	.	.	.	.	.	C	9.357	1.066968	0.20067	.	.	ENSG00000151012	ENST00000280612	D	0.89875	-2.58	5.61	5.61	0.85477	Amino acid permease domain (1);	0.055558	0.64402	D	0.000001	T	0.79429	0.4444	N	0.10707	0.03	0.58432	D	0.999992	B	0.22146	0.065	B	0.31101	0.124	T	0.74097	-0.3775	10	0.02654	T	1	.	19.6401	0.95754	0.0:1.0:0.0:0.0	.	319	Q9UPY5	XCT_HUMAN	I	319	ENSP00000280612:V319I	ENSP00000280612:V319I	V	-	1	0	SLC7A11	139323870	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.585000	0.60977	2.643000	0.89663	0.555000	0.69702	GTT		0.428	SLC7A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257251.2			5	13	0	0	0	1	0	5	13				
TGFBR2	7048	broad.mit.edu	37	3	30732996	30732996	+	Missense_Mutation	SNP	C	C	T	rs104893809		TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr3:30732996C>T	ENST00000295754.5	+	7	1991	c.1609C>T	c.(1609-1611)Cgc>Tgc	p.R537C	TGFBR2_ENST00000359013.4_Missense_Mutation_p.R562C	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	537	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		R -> C (in LDS2; has a negative effect on TGF-beta signaling; dbSNP:rs28934869). {ECO:0000269|PubMed:15235604}.		activation of protein kinase activity (GO:0032147)|aging (GO:0007568)|apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|cartilage development (GO:0051216)|common-partner SMAD protein phosphorylation (GO:0007182)|digestive tract development (GO:0048565)|embryo implantation (GO:0007566)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic hemopoiesis (GO:0035162)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lens development in camera-type eye (GO:0002088)|lens fiber cell apoptotic process (GO:1990086)|lung lobe morphogenesis (GO:0060463)|mammary gland morphogenesis (GO:0060443)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell tolerance induction (GO:0002663)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of tolerance induction to self antigen (GO:0002651)|protein phosphorylation (GO:0006468)|receptor-mediated endocytosis (GO:0006898)|regulation of cell proliferation (GO:0042127)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|smoothened signaling pathway (GO:0007224)|trachea formation (GO:0060440)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|wound healing (GO:0042060)	caveola (GO:0005901)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|glycosaminoglycan binding (GO:0005539)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type II (GO:0005026)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|type I transforming growth factor beta receptor binding (GO:0034713)|type III transforming growth factor beta receptor binding (GO:0034714)	p.R537C(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						TGTGGCAGAACGCTTCAGTGA	0.577																																						ENST00000295754.5																			1	Substitution - Missense(1)	p.R537C(1)	pancreas(1)	breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53	GRCh37	CM042122|CM064325	TGFBR2	M	rs104893809	c.(1609-1611)Cgc>Tgc		transforming growth factor, beta receptor II (70/80kDa)							83.0	80.0	81.0					3																	30732996		2203	4300	6503	SO:0001583	missense	7048				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding	g.chr3:30732996C>T		CCDS2648.1, CCDS33727.1	3p22	2014-09-17	2002-08-29		ENSG00000163513	ENSG00000163513			11773	protein-coding gene	gene with protein product		190182	"""transforming growth factor, beta receptor II (70-80kD)"""	MFS2		1319842, 15235604	Standard	NM_001024847		Approved		uc003cen.3	P37173	OTTHUMG00000130569	ENST00000295754.5:c.1609C>T	3.37:g.30732996C>T	ENSP00000295754:p.Arg537Cys					TGFBR2_ENST00000359013.4_Missense_Mutation_p.R562C	p.R537C	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN			7	1991	+			537		R -> C (in LDS2B; has a negative effect on TGF-beta signaling; dbSNP:rs28934869).	Protein kinase.		B4DTV5|Q15580|Q6DKT6|Q99474	Missense_Mutation	SNP	ENST00000295754.5	37	c.1609C>T	CCDS2648.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.869682	0.91587	.	.	ENSG00000163513	ENST00000295754;ENST00000359013;ENST00000439925	D;D	0.93604	-3.25;-3.25	5.91	5.91	0.95273	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.96972	0.9011	M	0.87038	2.855	0.80722	A	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97216	0.9874	9	0.87932	D	0	.	15.0515	0.71877	0.142:0.858:0.0:0.0	rs28934869	537;562	P37173;D2JYI1	TGFR2_HUMAN;.	C	537;562;367	ENSP00000295754:R537C;ENSP00000351905:R562C	ENSP00000295754:R537C	R	+	1	0	TGFBR2	30708000	1.000000	0.71417	0.994000	0.49952	0.992000	0.81027	5.930000	0.70104	2.803000	0.96430	0.650000	0.86243	CGC		0.577	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252994.2			28	19	0	0	0	1	0	28	19				
RBP3	5949	broad.mit.edu	37	10	48382145	48382145	+	Silent	SNP	C	C	G			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr10:48382145C>G	ENST00000224600.4	-	4	3617	c.3504G>C	c.(3502-3504)ggG>ggC	p.G1168G		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	1168	4 X approximate tandem repeats.				lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transport (GO:0006810)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interphotoreceptor matrix (GO:0033165)|vesicle (GO:0031982)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	TGGTCACCTCCCCAATGACCA	0.627																																						ENST00000224600.4																			0				central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(3502-3504)ggG>ggC		retinol binding protein 3, interstitial	Vitamin A(DB00162)						61.0	62.0	62.0					10																	48382145		2203	4300	6503	SO:0001819	synonymous_variant	5949				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	g.chr10:48382145C>G	M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203			9921	protein-coding gene	gene with protein product		180290	"""retinol-binding protein 3, interstitial"""				Standard	NM_002900		Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.3504G>C	10.37:g.48382145C>G							p.G1168G	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN			4	3617	-			1168			4 X approximate tandem repeats.		Q0QD34|Q5VSR0|Q8IXN0	Silent	SNP	ENST00000224600.4	37	c.3504G>C	CCDS7218.1																																																																																				0.627	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047888.1	NM_002900		22	31	0	0	0	1	0	22	31				
DMXL1	1657	broad.mit.edu	37	5	118433712	118433712	+	Silent	SNP	C	C	T	rs564874423		TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr5:118433712C>T	ENST00000311085.8	+	2	206	c.126C>T	c.(124-126)agC>agT	p.S42S	DMXL1_ENST00000539542.1_Silent_p.S42S	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	42										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		TACTGGGAAGCGATTTTGAAA	0.333													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16637	0.0		0.0	False		,,,				2504	0.0					ENST00000311085.8																			0				breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86						c.(124-126)agC>agT		Dmx-like 1							111.0	109.0	110.0					5																	118433712		2202	4300	6502	SO:0001819	synonymous_variant	1657							g.chr5:118433712C>T	AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"""WD repeat domain containing"""	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.126C>T	5.37:g.118433712C>T						DMXL1_ENST00000539542.1_Silent_p.S42S	p.S42S	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)	2	206	+		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)	42						Silent	SNP	ENST00000311085.8	37	c.126C>T	CCDS4125.1																																																																																				0.333	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509		9	13	0	0	0	1	0	9	13				
TOP2B	7155	broad.mit.edu	37	3	25639957	25639957	+	Missense_Mutation	SNP	C	C	G			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr3:25639957C>G	ENST00000264331.4	-	36	4721	c.4722G>C	c.(4720-4722)aaG>aaC	p.K1574N	TOP2B_ENST00000542520.1_Missense_Mutation_p.K426N|TOP2B_ENST00000540199.1_Missense_Mutation_p.K426N|TOP2B_ENST00000435706.2_Missense_Mutation_p.K1569N	NM_001068.2	NP_001059.2	Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	1574					ATP catabolic process (GO:0006200)|axonogenesis (GO:0007409)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|forebrain development (GO:0030900)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|neuron migration (GO:0001764)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein kinase C binding (GO:0005080)			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36					Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Etoposide(DB00773)	CAAAAGATGTCTTCTTCGGTT	0.388																																						ENST00000435706.2																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36						c.(4705-4707)aaG>aaC		topoisomerase (DNA) II beta 180kDa							48.0	48.0	48.0					3																	25639957		1820	4075	5895	SO:0001583	missense	7155				DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity	g.chr3:25639957C>G	X68060	CCDS46776.1	3p24.2	2012-08-30	2002-08-29		ENSG00000077097	ENSG00000077097	5.99.1.3		11990	protein-coding gene	gene with protein product		126431	"""topoisomerase (DNA) II beta (180kD)"""			1309226, 1333583	Standard	NM_001068		Approved		uc003cdj.3	Q02880	OTTHUMG00000155596	ENST00000264331.4:c.4722G>C	3.37:g.25639957C>G	ENSP00000264331:p.Lys1574Asn					TOP2B_ENST00000264331.4_Missense_Mutation_p.K1574N|TOP2B_ENST00000540199.1_Missense_Mutation_p.K426N|TOP2B_ENST00000542520.1_Missense_Mutation_p.K426N	p.K1569N			Q02880	TOP2B_HUMAN			36	4908	-			1574					Q13600|Q9UMG8|Q9UQP8	Missense_Mutation	SNP	ENST00000264331.4	37	c.4707G>C		.	.	.	.	.	.	.	.	.	.	C	7.665	0.685792	0.14973	.	.	ENSG00000077097	ENST00000542520;ENST00000435706;ENST00000264331;ENST00000540199	T;T;T;T	0.54675	0.56;0.56;0.56;0.56	5.98	3.3	0.37823	DTHCT (1);	0.168422	0.52532	D	0.000070	T	0.42810	0.1219	N	0.08118	0	0.50313	D	0.999861	D;D	0.65815	0.995;0.993	P;P	0.62014	0.897;0.835	T	0.21348	-1.0248	10	0.15066	T	0.55	-19.7298	8.4065	0.32619	0.0:0.2225:0.0:0.7775	.	1574;1569	Q02880;Q02880-2	TOP2B_HUMAN;.	N	426;1569;1574;426	ENSP00000446023:K426N;ENSP00000396704:K1569N;ENSP00000264331:K1574N;ENSP00000437352:K426N	ENSP00000264331:K1574N	K	-	3	2	TOP2B	25614961	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	1.437000	0.34991	1.101000	0.41535	-0.312000	0.09012	AAG		0.388	TOP2B-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding				6	7	0	0	0	1	0	6	7				
NAV3	89795	broad.mit.edu	37	12	78400669	78400669	+	Missense_Mutation	SNP	G	G	T			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr12:78400669G>T	ENST00000397909.2	+	8	1524	c.1351G>T	c.(1351-1353)Gct>Tct	p.A451S	NAV3_ENST00000266692.7_Missense_Mutation_p.A451S|NAV3_ENST00000228327.6_Missense_Mutation_p.A451S|NAV3_ENST00000536525.2_Missense_Mutation_p.A451S			Q8IVL0	NAV3_HUMAN	neuron navigator 3	451						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CCCTCCAAAAGCTGGAAGCAA	0.398										HNSCC(70;0.22)																												ENST00000397909.2																			0				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						c.(1351-1353)Gct>Tct		neuron navigator 3							80.0	76.0	77.0					12																	78400669		1835	4089	5924	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78400669G>T	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.1351G>T	12.37:g.78400669G>T	ENSP00000381007:p.Ala451Ser	HNSCC(70;0.22)				NAV3_ENST00000536525.2_Missense_Mutation_p.A451S|NAV3_ENST00000228327.6_Missense_Mutation_p.A451S|NAV3_ENST00000266692.7_Missense_Mutation_p.A451S	p.A451S			Q8IVL0	NAV3_HUMAN			8	1524	+			451					Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.1351G>T		.	.	.	.	.	.	.	.	.	.	G	14.28	2.488649	0.44249	.	.	ENSG00000067798	ENST00000549464;ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	T;T;T;T;T	0.61158	0.13;1.66;1.65;1.65;1.59	5.73	5.73	0.89815	.	0.000000	0.39834	U	0.001245	T	0.60792	0.2296	L	0.43152	1.355	0.80722	D	1	B;P	0.52316	0.429;0.952	B;P	0.49085	0.088;0.6	T	0.56232	-0.8013	10	0.33141	T	0.24	-16.8068	19.9161	0.97063	0.0:0.0:1.0:0.0	.	451;451	Q8IVL0;Q8IVL0-2	NAV3_HUMAN;.	S	451	ENSP00000446628:A451S;ENSP00000446132:A451S;ENSP00000381007:A451S;ENSP00000228327:A451S;ENSP00000266692:A451S	ENSP00000228327:A451S	A	+	1	0	NAV3	76924800	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.334000	0.59291	2.710000	0.92621	0.650000	0.86243	GCT		0.398	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		25	29	1	0	9.86323e-18	1	1.09979e-17	25	29				
NLRP2	55655	broad.mit.edu	37	19	55496450	55496450	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr19:55496450C>T	ENST00000543010.1	+	7	2209	c.2066C>T	c.(2065-2067)aCg>aTg	p.T689M	NLRP2_ENST00000391721.4_Missense_Mutation_p.T665M|NLRP2_ENST00000448584.2_Missense_Mutation_p.T689M|NLRP2_ENST00000427260.2_Missense_Mutation_p.T666M|NLRP2_ENST00000263437.6_Missense_Mutation_p.T686M|NLRP2_ENST00000538819.1_Missense_Mutation_p.T665M|NLRP2_ENST00000537859.1_Missense_Mutation_p.T667M|NLRP2_ENST00000339757.7_Missense_Mutation_p.T667M	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	689					positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		CCTTTCTGGACGGACCTTTGT	0.438																																						ENST00000543010.1																			0				large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11						c.(2065-2067)aCg>aTg		NLR family, pyrin domain containing 2							201.0	169.0	180.0					19																	55496450		2203	4300	6503	SO:0001583	missense	55655				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding	g.chr19:55496450C>T	AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"""Nucleotide-binding domain and leucine rich repeat containing"""	22948	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"""	609364	"""NACHT, leucine rich repeat and PYD containing 2"""	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.2066C>T	19.37:g.55496450C>T	ENSP00000445135:p.Thr689Met					NLRP2_ENST00000537859.1_Missense_Mutation_p.T667M|NLRP2_ENST00000538819.1_Missense_Mutation_p.T665M|NLRP2_ENST00000391721.4_Missense_Mutation_p.T665M|NLRP2_ENST00000448584.2_Missense_Mutation_p.T689M|NLRP2_ENST00000427260.2_Missense_Mutation_p.T666M|NLRP2_ENST00000263437.6_Missense_Mutation_p.T686M|NLRP2_ENST00000339757.7_Missense_Mutation_p.T667M	p.T689M	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)	7	2209	+			689					B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Missense_Mutation	SNP	ENST00000543010.1	37	c.2066C>T	CCDS12913.1	.	.	.	.	.	.	.	.	.	.	N	0.564	-0.843993	0.02671	.	.	ENSG00000022556	ENST00000543010;ENST00000391721;ENST00000339757;ENST00000448584;ENST00000537859;ENST00000427260;ENST00000538819;ENST00000263437	T;T;T;T;T;T;T;T	0.53640	0.61;0.61;0.61;0.61;0.61;0.61;0.61;0.61	2.45	-4.91	0.03085	.	.	.	.	.	T	0.26484	0.0647	N	0.25426	0.745	0.09310	N	1	B;B;B;B;B	0.34241	0.166;0.256;0.444;0.256;0.166	B;B;B;B;B	0.26693	0.022;0.045;0.033;0.072;0.033	T	0.04811	-1.0925	9	0.54805	T	0.06	.	6.7208	0.23328	0.0:0.4663:0.2404:0.2933	.	666;667;686;665;689	B4DZL7;Q9NX02-2;A8K9G6;Q9NX02-4;Q9NX02	.;.;.;.;NALP2_HUMAN	M	689;665;667;689;667;666;665;686	ENSP00000445135:T689M;ENSP00000375601:T665M;ENSP00000344074:T667M;ENSP00000409370:T689M;ENSP00000440601:T667M;ENSP00000402474:T666M;ENSP00000441133:T665M;ENSP00000263437:T686M	ENSP00000263437:T686M	T	+	2	0	NLRP2	60188262	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.597000	0.02089	-2.646000	0.00426	-1.292000	0.01352	ACG		0.438	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396152.1	NM_017852		26	45	0	0	0	1	0	26	45				
SBF1	6305	broad.mit.edu	37	22	50893742	50893742	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr22:50893742G>A	ENST00000390679.3	-	32	4571	c.4387C>T	c.(4387-4389)Cgc>Tgc	p.R1463C	SBF1_ENST00000348911.6_Missense_Mutation_p.R1464C|SBF1_ENST00000380817.3_Missense_Mutation_p.R1489C|SBF1_ENST00000476293.1_5'Flank			O95248	MTMR5_HUMAN	SET binding factor 1	1463	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		TGGCTGAAGCGATGGCCGAAG	0.647																																						ENST00000380817.2																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43						c.(4465-4467)Cgc>Tgc		SET binding factor 1							32.0	41.0	38.0					22																	50893742		2159	4263	6422	SO:0001583	missense	6305				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity	g.chr22:50893742G>A	U93181	CCDS14091.1, CCDS14091.2	22q13.33	2013-01-10			ENSG00000100241	ENSG00000100241		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	10542	protein-coding gene	gene with protein product	"""myotubularin related 5"", ""DENN/MADD domain containing 7A"""	603560				9537414, 9736772	Standard	NM_002972		Approved	MTMR5, DENND7A	uc003blh.3	O95248	OTTHUMG00000150204	ENST00000390679.3:c.4387C>T	22.37:g.50893742G>A	ENSP00000375097:p.Arg1463Cys					SBF1_ENST00000390679.3_Missense_Mutation_p.R1463C|SBF1_ENST00000348911.6_Missense_Mutation_p.R1464C	p.R1489C	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	33	4648	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	1463			Myotubularin phosphatase.		A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Missense_Mutation	SNP	ENST00000390679.3	37	c.4465C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.26|15.26	2.780503|2.780503	0.49891|0.49891	.|.	.|.	ENSG00000100241|ENSG00000100241	ENST00000380817;ENST00000348911;ENST00000337034;ENST00000390679|ENST00000418590	D;D;D|.	0.93859|.	-3.3;-3.3;-3.3|.	3.84|3.84	2.79|2.79	0.32731|0.32731	Myotubularin phosphatase domain (1);|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.68970|0.68970	0.3059|0.3059	M|M	0.71036|0.71036	2.16|2.16	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.81914|.	0.982;0.995|.	T|T	0.67692|0.67692	-0.5605|-0.5605	10|5	0.87932|.	D|.	0|.	.|.	10.705|10.705	0.45950|0.45950	0.0:0.0:0.6538:0.3462|0.0:0.0:0.6538:0.3462	.|.	1463;1489|.	O95248;O95248-4|.	MTMR5_HUMAN;.|.	C|L	1489;1464;1499;1463|22	ENSP00000370196:R1489C;ENSP00000252027:R1464C;ENSP00000375097:R1463C|.	ENSP00000336522:R1499C|.	R|S	-|-	1|2	0|0	SBF1|SBF1	49240608|49240608	0.744000|0.744000	0.28250|0.28250	0.829000|0.829000	0.32907|0.32907	0.561000|0.561000	0.35649|0.35649	0.989000|0.989000	0.29629|0.29629	0.935000|0.935000	0.37341|0.37341	0.563000|0.563000	0.77884|0.77884	CGC|TCG		0.647	SBF1-201	KNOWN	basic	protein_coding	protein_coding				18	34	0	0	0	1	0	18	34				
HIST2H2BF	440689	broad.mit.edu	37	1	149783634	149783634	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr1:149783634G>A	ENST00000369167.1	-	1	280	c.245C>T	c.(244-246)gCg>gTg	p.A82V	HIST2H2BF_ENST00000427880.2_Missense_Mutation_p.A82V|HIST2H2BF_ENST00000545683.1_Missense_Mutation_p.A82V|HIST2H2BF_ENST00000469483.1_5'UTR|RP11-196G18.21_ENST00000420462.1_RNA	NM_001024599.4	NP_001019770.1	Q5QNW6	H2B2F_HUMAN	histone cluster 2, H2bf	82					chromatin organization (GO:0006325)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Breast(34;0.0124)|all_hematologic(923;0.127)					GTTGTAGTGCGCCAGGCGGGA	0.667																																						ENST00000427880.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(244-246)gCg>gTg		histone cluster 2, H2bf							43.0	40.0	41.0					1																	149783634		2203	4277	6480	SO:0001583	missense	440689				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr1:149783634G>A	BC110793	CCDS30846.1, CCDS53359.1	1q21.2	2013-06-03	2006-10-11		ENSG00000203814	ENSG00000203814		"""Histones / Replication-dependent"""	24700	protein-coding gene	gene with protein product			"""histone 2, H2bf"""				Standard	NM_001161334		Approved		uc010pbj.2	Q5QNW6	OTTHUMG00000183159	ENST00000369167.1:c.245C>T	1.37:g.149783634G>A	ENSP00000358164:p.Ala82Val					HIST2H2BF_ENST00000369167.1_Missense_Mutation_p.A82V|HIST2H2BF_ENST00000545683.1_Missense_Mutation_p.A82V|HIST2H2BF_ENST00000469483.1_5'UTR	p.A82V			Q5QNW6	H2B2F_HUMAN			1	291	-	Breast(34;0.0124)|all_hematologic(923;0.127)		82					A8K0U9|B4DLA9	Missense_Mutation	SNP	ENST00000369167.1	37	c.245C>T	CCDS30846.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.097418	0.76870	.	.	ENSG00000203814	ENST00000545683;ENST00000427880;ENST00000369167	T;T;T	0.29142	1.58;1.58;1.58	3.56	3.56	0.40772	Histone-fold (2);Histone core (1);	0.000000	0.64402	D	0.000015	T	0.40347	0.1113	M	0.74546	2.27	0.50171	D	0.999858	D;D;D	0.76494	0.999;0.999;0.982	P;P;B	0.57283	0.817;0.566;0.316	T	0.40496	-0.9560	10	0.52906	T	0.07	.	14.937	0.70964	0.0:0.0:1.0:0.0	.	82;82;82	B4DR52;B4DLA9;Q5QNW6	.;.;H2B2F_HUMAN	V	82	ENSP00000445831:A82V;ENSP00000407461:A82V;ENSP00000358164:A82V	ENSP00000358164:A82V	A	-	2	0	HIST2H2BF	148050258	1.000000	0.71417	1.000000	0.80357	0.205000	0.24178	8.779000	0.91792	2.287000	0.76781	0.195000	0.17529	GCG		0.667	HIST2H2BF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033453.2	NM_001024599		36	62	0	0	0	1	0	36	62				
PHYHIPL	84457	broad.mit.edu	37	10	60936703	60936703	+	Missense_Mutation	SNP	G	G	T			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr10:60936703G>T	ENST00000373880.4	+	1	354	c.90G>T	c.(88-90)caG>caT	p.Q30H	PHYHIPL_ENST00000433653.1_Missense_Mutation_p.Q30H|PHYHIPL_ENST00000373878.3_5'Flank	NM_032439.3	NP_115815.2	Q96FC7	PHIPL_HUMAN	phytanoyl-CoA 2-hydroxylase interacting protein-like	30						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)				NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(3)|skin(1)|urinary_tract(1)	18						AGGCCATTCAGCTGTGCGACC	0.672																																						ENST00000373880.4																			0				NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(3)|skin(1)|urinary_tract(1)	18						c.(88-90)caG>caT		phytanoyl-CoA 2-hydroxylase interacting protein-like							60.0	53.0	55.0					10																	60936703		2202	4300	6502	SO:0001583	missense	84457							g.chr10:60936703G>T	AL834339	CCDS7254.1, CCDS44405.1	10q21.1	2013-02-11	2006-01-09		ENSG00000165443	ENSG00000165443		"""Fibronectin type III domain containing"""	29378	protein-coding gene	gene with protein product			"""phytanoyl-CoA hydroxylase interacting protein-like"""			11347906	Standard	NM_032439		Approved	KIAA1796, Em:AC025038.1	uc001jkk.4	Q96FC7	OTTHUMG00000018276	ENST00000373880.4:c.90G>T	10.37:g.60936703G>T	ENSP00000362987:p.Gln30His					PHYHIPL_ENST00000433653.1_Missense_Mutation_p.Q30H	p.Q30H	NM_032439.3	NP_115815.2	Q96FC7	PHIPL_HUMAN			1	354	+			30					B7WP61|Q68DF3|Q6UXY3|Q8N3W3|Q96JM9|Q96NP7	Missense_Mutation	SNP	ENST00000373880.4	37	c.90G>T	CCDS7254.1	.	.	.	.	.	.	.	.	.	.	G	16.66	3.184096	0.57800	.	.	ENSG00000165443	ENST00000373880;ENST00000433653	T	0.25250	1.81	3.52	3.52	0.40303	.	0.000000	0.50627	D	0.000102	T	0.22437	0.0541	L	0.27053	0.805	0.58432	D	0.999997	B	0.34147	0.438	B	0.38562	0.276	T	0.17289	-1.0374	10	0.66056	D	0.02	-15.0125	14.3529	0.66716	0.0:0.0:1.0:0.0	.	30	Q96FC7	PHIPL_HUMAN	H	30	ENSP00000362987:Q30H	ENSP00000362987:Q30H	Q	+	3	2	PHYHIPL	60606709	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.023000	0.57211	1.946000	0.56461	0.563000	0.77884	CAG		0.672	PHYHIPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048156.1	NM_032439		9	26	1	0	5.68852e-11	1	6.1261e-11	9	26				
FBXW4	6468	broad.mit.edu	37	10	103371394	103371394	+	Silent	SNP	G	G	A			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr10:103371394G>A	ENST00000331272.7	-	8	1728	c.1110C>T	c.(1108-1110)gcC>gcT	p.A370A	FBXW4_ENST00000470093.1_5'UTR	NM_022039.3	NP_071322.1	P57775	FBXW4_HUMAN	F-box and WD repeat domain containing 4	370					cartilage development (GO:0051216)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|positive regulation of mesenchymal cell proliferation (GO:0002053)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)	ubiquitin ligase complex (GO:0000151)				breast(3)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	15		Colorectal(252;0.123)		Epithelial(162;4.35e-08)|all cancers(201;1.92e-06)		CGTGCAGGCAGGCCCTTTGAC	0.592																																						ENST00000331272.7																			0				breast(3)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	15						c.(1108-1110)gcC>gcT		F-box and WD repeat domain containing 4							104.0	91.0	96.0					10																	103371394		2203	4300	6503	SO:0001819	synonymous_variant	6468				ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	ubiquitin ligase complex		g.chr10:103371394G>A	AF281859	CCDS31271.1	10q24	2013-01-09	2007-02-08	2005-03-12	ENSG00000107829	ENSG00000107829		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	10847	protein-coding gene	gene with protein product		608071	"""split hand/foot malformation (ectrodactyly) type 3"", ""F-box and WD-40 domain protein 4"""	SHFM3		8723077, 7912888	Standard	XM_005270053		Approved	Fbw4, dactylin	uc001kto.3	P57775	OTTHUMG00000018938	ENST00000331272.7:c.1110C>T	10.37:g.103371394G>A						FBXW4_ENST00000470093.1_5'UTR	p.A370A	NM_022039.3	NP_071322.1	P57775	FBXW4_HUMAN		Epithelial(162;4.35e-08)|all cancers(201;1.92e-06)	8	1728	-		Colorectal(252;0.123)	370					Q5SVS1|Q96IM6	Silent	SNP	ENST00000331272.7	37	c.1110C>T	CCDS31271.1																																																																																				0.592	FBXW4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049979.2	NM_022039		23	59	0	0	0	1	0	23	59				
SLC7A9	11136	broad.mit.edu	37	19	33349446	33349446	+	Missense_Mutation	SNP	A	A	T			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr19:33349446A>T	ENST00000023064.4	-	9	1068	c.877T>A	c.(877-879)Ttt>Att	p.F293I	SLC7A9_ENST00000587772.1_Missense_Mutation_p.F293I|SLC7A9_ENST00000590341.1_Missense_Mutation_p.F293I	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	293					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|L-cystine transport (GO:0015811)|leukocyte migration (GO:0050900)|neutral amino acid transport (GO:0015804)|protein complex assembly (GO:0006461)|transmembrane transport (GO:0055085)|transport (GO:0006810)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-cystine transmembrane transporter activity (GO:0015184)|neutral amino acid transmembrane transporter activity (GO:0015175)|peptide antigen binding (GO:0042605)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	CGGTCACCAAATGTCTGGTGA	0.562																																					GBM(181;1335 2108 9644 44178 46689)	ENST00000023064.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32						c.(877-879)Ttt>Att		solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	L-Cystine(DB00138)						82.0	65.0	71.0					19																	33349446		2203	4300	6503	SO:0001583	missense	11136				blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding	g.chr19:33349446A>T	AF141289	CCDS12425.1	19q13.11	2013-07-19	2013-07-19		ENSG00000021488	ENSG00000021488		"""Solute carriers"""	11067	protein-coding gene	gene with protein product		604144		CSNU3		10471498	Standard	NM_014270		Approved		uc021usa.1	P82251	OTTHUMG00000180287	ENST00000023064.4:c.877T>A	19.37:g.33349446A>T	ENSP00000023064:p.Phe293Ile					SLC7A9_ENST00000587772.1_Missense_Mutation_p.F293I|SLC7A9_ENST00000590341.1_Missense_Mutation_p.F293I	p.F293I	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN			9	1068	-	Esophageal squamous(110;0.137)		293					B2R9A6	Missense_Mutation	SNP	ENST00000023064.4	37	c.877T>A	CCDS12425.1	.	.	.	.	.	.	.	.	.	.	A	18.68	3.675720	0.67928	.	.	ENSG00000021488	ENST00000023064	D	0.91124	-2.79	5.33	5.33	0.75918	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.95287	0.8471	H	0.94183	3.505	0.80722	D	1	P;P	0.46859	0.885;0.885	P;P	0.51297	0.665;0.665	D	0.96264	0.9193	10	0.66056	D	0.02	.	15.2967	0.73913	1.0:0.0:0.0:0.0	.	293;293	Q53FY4;P82251	.;BAT1_HUMAN	I	293	ENSP00000023064:F293I	ENSP00000023064:F293I	F	-	1	0	SLC7A9	38041286	1.000000	0.71417	0.989000	0.46669	0.115000	0.19883	9.304000	0.96190	2.028000	0.59812	0.379000	0.24179	TTT		0.562	SLC7A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450585.1			10	13	0	0	0	1	0	10	13				
EEF1D	1936	broad.mit.edu	37	8	144671461	144671461	+	Intron	SNP	C	C	T			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr8:144671461C>T	ENST00000529272.1	-	2	397				EEF1D_ENST00000528610.1_Intron|EEF1D_ENST00000526838.1_Intron|EEF1D_ENST00000531621.1_Intron|EEF1D_ENST00000532400.1_Intron|EEF1D_ENST00000395119.3_Intron|EEF1D_ENST00000317198.6_Intron|EEF1D_ENST00000423316.2_Missense_Mutation_p.R264Q|EEF1D_ENST00000532741.1_Missense_Mutation_p.R314Q|EEF1D_ENST00000419152.2_Intron|EEF1D_ENST00000442189.2_Missense_Mutation_p.R264Q|EEF1D_ENST00000524624.1_Intron			P29692	EF1D_HUMAN	eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)|translation elongation factor activity (GO:0003746)|translation factor activity, nucleic acid binding (GO:0008135)			breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			CAGGCCGGCTCGCTCTTGCAG	0.711																																						ENST00000532741.1																			0				breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(940-942)cGa>cAa		eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)							5.0	6.0	6.0					8																	144671461		2022	4106	6128	SO:0001627	intron_variant	1936				positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|signal transducer activity|translation elongation factor activity	g.chr8:144671461C>T	AK024550	CCDS6404.1, CCDS6405.1, CCDS47930.1, CCDS56559.1	8q24	2011-09-15			ENSG00000104529	ENSG00000104529			3211	protein-coding gene	gene with protein product		130592				8334168	Standard	NM_001960		Approved	EF-1D, FLJ20897	uc003yyt.3	P29692	OTTHUMG00000165191	ENST00000529272.1:c.4-2442G>A	8.37:g.144671461C>T						EEF1D_ENST00000532400.1_Intron|EEF1D_ENST00000442189.2_Missense_Mutation_p.R264Q|EEF1D_ENST00000531621.1_Intron|EEF1D_ENST00000524624.1_Intron|EEF1D_ENST00000526838.1_Intron|EEF1D_ENST00000317198.6_Intron|EEF1D_ENST00000423316.2_Missense_Mutation_p.R264Q|EEF1D_ENST00000529272.1_Intron|EEF1D_ENST00000419152.2_Intron|EEF1D_ENST00000395119.3_Intron|EEF1D_ENST00000528610.1_Intron	p.R314Q			P29692	EF1D_HUMAN	Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		1	1169	-	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		42					B4DDU4|D3DWK3|E9PBQ9|Q4VBZ6|Q969J1|Q96I38	Missense_Mutation	SNP	ENST00000529272.1	37	c.941G>A	CCDS6405.1	.	.	.	.	.	.	.	.	.	.	C	14.92	2.679675	0.47886	.	.	ENSG00000104529	ENST00000532741;ENST00000442189;ENST00000423316;ENST00000356793;ENST00000337369;ENST00000526710	.	.	.	4.67	4.67	0.58626	.	0.254272	0.33631	N	0.004704	T	0.64483	0.2602	L	0.47716	1.5	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	P;P;D	0.64144	0.838;0.884;0.922	T	0.63862	-0.6541	9	0.46703	T	0.11	.	9.8378	0.40980	0.1549:0.695:0.1501:0.0	.	264;314;264	D3DWK1;E9PRY8;P29692-2	.;.;.	Q	314;264;264;216;264;264	.	ENSP00000338323:R264Q	R	-	2	0	EEF1D	144742604	0.967000	0.33354	0.998000	0.56505	0.585000	0.36419	2.258000	0.43249	2.428000	0.82296	0.561000	0.74099	CGA		0.711	EEF1D-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382592.2	NM_032378		14	9	0	0	0	1	0	14	9				
UVRAG	7405	broad.mit.edu	37	11	75826975	75826975	+	Missense_Mutation	SNP	A	A	G			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr11:75826975A>G	ENST00000356136.3	+	14	1554	c.1313A>G	c.(1312-1314)tAt>tGt	p.Y438C	UVRAG_ENST00000533454.1_Missense_Mutation_p.Y66C|UVRAG_ENST00000531818.1_Missense_Mutation_p.Y66C|UVRAG_ENST00000539288.1_Missense_Mutation_p.Y66C|UVRAG_ENST00000532130.1_Missense_Mutation_p.Y66C|UVRAG_ENST00000528420.1_Missense_Mutation_p.Y337C|UVRAG_ENST00000538870.1_5'UTR	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	438					DNA repair (GO:0006281)|positive regulation of autophagy (GO:0010508)|SNARE complex assembly (GO:0035493)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)|phagocytic vesicle (GO:0045335)|protein complex (GO:0043234)				central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						CAGCTAAGATATCAACATGGA	0.378																																						ENST00000356136.3																			0				central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						c.(1312-1314)tAt>tGt		UV radiation resistance associated							84.0	75.0	78.0					11																	75826975		2200	4293	6493	SO:0001583	missense	7405				DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding	g.chr11:75826975A>G	X99050, AB012958	CCDS8241.1	11q13	2012-11-15	2012-11-15		ENSG00000198382	ENSG00000198382			12640	protein-coding gene	gene with protein product	"""beclin 1 binding protein"""	602493	"""UV radiation resistance associated gene"""			9169138, 16799551, 18843052	Standard	NM_003369		Approved	VPS38	uc001oxc.3	Q9P2Y5	OTTHUMG00000165319	ENST00000356136.3:c.1313A>G	11.37:g.75826975A>G	ENSP00000348455:p.Tyr438Cys					UVRAG_ENST00000528420.1_Missense_Mutation_p.Y337C|UVRAG_ENST00000533454.1_Missense_Mutation_p.Y66C|UVRAG_ENST00000539288.1_Missense_Mutation_p.Y66C|UVRAG_ENST00000532130.1_Missense_Mutation_p.Y66C|UVRAG_ENST00000538870.1_5'UTR|UVRAG_ENST00000531818.1_Missense_Mutation_p.Y66C	p.Y438C	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN			14	1554	+			438					B3KTC1|O00392	Missense_Mutation	SNP	ENST00000356136.3	37	c.1313A>G	CCDS8241.1	.	.	.	.	.	.	.	.	.	.	A	14.89	2.671063	0.47781	.	.	ENSG00000198382	ENST00000356136;ENST00000528420;ENST00000533454;ENST00000531818;ENST00000532130;ENST00000539288	T;T	0.31247	1.5;1.5	5.69	5.69	0.88448	.	0.113153	0.64402	D	0.000007	T	0.37376	0.1001	L	0.53249	1.67	0.80722	D	1	P	0.41498	0.752	P	0.45099	0.469	T	0.14448	-1.0472	10	0.52906	T	0.07	-14.4792	14.1947	0.65662	1.0:0.0:0.0:0.0	.	438	Q9P2Y5	UVRAG_HUMAN	C	438;337;66;66;66;66	ENSP00000348455:Y438C;ENSP00000436039:Y337C	ENSP00000348455:Y438C	Y	+	2	0	UVRAG	75504623	1.000000	0.71417	0.999000	0.59377	0.674000	0.39518	8.064000	0.89483	2.291000	0.77112	0.533000	0.62120	TAT		0.378	UVRAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383430.1	NM_003369		11	3	0	0	0	1	0	11	3				
ZKSCAN3	80317	broad.mit.edu	37	6	28333720	28333720	+	Silent	SNP	G	G	T			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr6:28333720G>T	ENST00000377255.3	+	7	1572	c.1275G>T	c.(1273-1275)ccG>ccT	p.P425P	ZKSCAN3_ENST00000341464.5_Silent_p.P277P|ZKSCAN3_ENST00000252211.2_Silent_p.P425P	NM_001242894.1	NP_001229823.1	Q9BRR0	ZKSC3_HUMAN	zinc finger with KRAB and SCAN domains 3	425					autophagy (GO:0006914)|lysosome organization (GO:0007040)|negative regulation of autophagy (GO:0010507)|negative regulation of cellular senescence (GO:2000773)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1)	21						GGGAGAAGCCGTATCAGTGCA	0.507																																						ENST00000377255.3																			0				kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1)	21						c.(1273-1275)ccG>ccT		zinc finger with KRAB and SCAN domains 3							69.0	70.0	70.0					6																	28333720		2203	4300	6503	SO:0001819	synonymous_variant	80317				positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	chromatin binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28333720G>T	U71601	CCDS4650.1, CCDS56408.1	6p22.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000189298		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13853	protein-coding gene	gene with protein product		612791	"""zinc finger protein 306"", ""zinc finger protein 309"""	ZNF306, ZNF309		10520746, 22531714	Standard	NM_024493		Approved	Zfp47, ZF47, ZSCAN35	uc003nle.4	Q9BRR0	OTTHUMG00000014521	ENST00000377255.3:c.1275G>T	6.37:g.28333720G>T						ZKSCAN3_ENST00000252211.2_Silent_p.P425P|ZKSCAN3_ENST00000341464.5_Silent_p.P277P	p.P425P	NM_001242894.1	NP_001229823.1	Q9BRR0	ZKSC3_HUMAN			7	1572	+			425					B2R8W2|B3KVC0|H7BXX1|Q5VXH3|Q92972|Q9H4T3	Silent	SNP	ENST00000377255.3	37	c.1275G>T	CCDS4650.1																																																																																				0.507	ZKSCAN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040189.3	NM_024493		36	12	1	0	9.17885e-22	1	1.0514e-21	36	12				
DPEP3	64180	broad.mit.edu	37	16	68013604	68013604	+	Nonsense_Mutation	SNP	G	G	A			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr16:68013604G>A	ENST00000268793.4	-	2	800	c.427C>T	c.(427-429)Cga>Tga	p.R143*	DPEP3_ENST00000574342.1_Intron	NM_001129758.1|NM_022357.3	NP_001123230.1|NP_071752.3	Q9H4B8	DPEP3_HUMAN	dipeptidase 3	118					male meiosis (GO:0007140)	anchored component of membrane (GO:0031225)	dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metalloexopeptidase activity (GO:0008235)			breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)		CTGAAATTTCGCAGGTTAACA	0.582																																						ENST00000268793.4																			0				breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	20						c.(427-429)Cga>Tga		dipeptidase 3							91.0	71.0	78.0					16																	68013604		2198	4300	6498	SO:0001587	stop_gained	64180				meiosis	anchored to membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity	g.chr16:68013604G>A	AJ291679	CCDS10856.1	16q22.1	2011-07-22			ENSG00000141096	ENSG00000141096	3.4.13.19		23029	protein-coding gene	gene with protein product		609926					Standard	NM_022357		Approved		uc002evc.4	Q9H4B8	OTTHUMG00000137544	ENST00000268793.4:c.427C>T	16.37:g.68013604G>A	ENSP00000268793:p.Arg143*					DPEP3_ENST00000574342.1_Intron	p.R143*	NM_001129758.1|NM_022357.3	NP_001123230.1|NP_071752.3	Q9H4B8	DPEP3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)	2	800	-		Ovarian(137;0.192)	118					B3KQ48|Q6PEZ5|Q6UXE4	Nonsense_Mutation	SNP	ENST00000268793.4	37	c.427C>T	CCDS10856.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.890599	0.91889	.	.	ENSG00000141096	ENST00000268793	.	.	.	4.79	2.58	0.30949	.	0.309310	0.29964	N	0.010743	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.6414	0.33978	0.0943:0.0:0.7438:0.1618	.	.	.	.	X	143	.	ENSP00000268793:R143X	R	-	1	2	DPEP3	66571105	0.135000	0.22499	0.941000	0.38009	0.320000	0.28249	0.848000	0.27710	1.028000	0.39785	0.561000	0.74099	CGA		0.582	DPEP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268875.3	NM_022357		7	30	0	0	0	1	0	7	30				
APBB3	10307	broad.mit.edu	37	5	139939900	139939900	+	Missense_Mutation	SNP	T	T	C			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr5:139939900T>C	ENST00000357560.4	-	12	1665	c.1222A>G	c.(1222-1224)Atg>Gtg	p.M408V	APBB3_ENST00000412920.3_Missense_Mutation_p.M406V|SRA1_ENST00000520427.1_5'Flank|SRA1_ENST00000336283.6_5'Flank|APBB3_ENST00000354402.5_Missense_Mutation_p.M415V|APBB3_ENST00000507279.1_5'Flank|APBB3_ENST00000358580.5_3'UTR|APBB3_ENST00000356738.2_Missense_Mutation_p.M413V|APBB3_ENST00000508496.2_Missense_Mutation_p.M185V	NM_006051.3|NM_133173.2	NP_006042.3|NP_573419.2	O95704	APBB3_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 3	408	PID 2. {ECO:0000255|PROSITE- ProRule:PRU00148}.					actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGACTCACCATACAGGCAGCC	0.607																																						ENST00000357560.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	11						c.(1222-1224)Atg>Gtg		amyloid beta (A4) precursor protein-binding, family B, member 3							51.0	51.0	51.0					5																	139939900		2203	4300	6503	SO:0001583	missense	10307					actin cytoskeleton|cytoplasm		g.chr5:139939900T>C	AB018247	CCDS4227.1, CCDS4228.1, CCDS4229.1, CCDS47279.1	5q31	2008-02-05			ENSG00000113108	ENSG00000113108			20708	protein-coding gene	gene with protein product		602711				9407065	Standard	NM_133172		Approved	FE65L2	uc003lgd.1	O95704	OTTHUMG00000129504	ENST00000357560.4:c.1222A>G	5.37:g.139939900T>C	ENSP00000350171:p.Met408Val					APBB3_ENST00000412920.3_Missense_Mutation_p.M406V|APBB3_ENST00000508496.2_Missense_Mutation_p.M185V|APBB3_ENST00000358580.5_3'UTR|APBB3_ENST00000354402.5_Missense_Mutation_p.M415V|APBB3_ENST00000356738.2_Missense_Mutation_p.M413V	p.M408V	NM_006051.3|NM_133173.2	NP_006042.3|NP_573419.2	O95704	APBB3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		12	1665	-			408			PID 2.		B3KQN9|Q08AG4|Q96Q18|Q9BYD4|Q9NYX6|Q9NYX7|Q9NYX8	Missense_Mutation	SNP	ENST00000357560.4	37	c.1222A>G	CCDS4229.1	.	.	.	.	.	.	.	.	.	.	T	17.58	3.425131	0.62733	.	.	ENSG00000113108	ENST00000356738;ENST00000354402;ENST00000357560;ENST00000508496;ENST00000412920	T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.44138	0.1279	L	0.38175	1.15	0.80722	D	1	D;D	0.56968	0.978;0.978	D;D	0.67382	0.947;0.951	T	0.20273	-1.0280	9	.	.	.	-15.9814	15.2079	0.73195	0.0:0.0:0.0:1.0	.	406;413	O95704-2;O95704-3	.;.	V	413;415;408;185;406	ENSP00000349177:M413V;ENSP00000346378:M415V;ENSP00000350171:M408V;ENSP00000444013:M185V;ENSP00000402591:M406V	.	M	-	1	0	APBB3	139920084	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.896000	0.87350	2.078000	0.62432	0.533000	0.62120	ATG		0.607	APBB3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251677.2	NM_006051		19	30	0	0	0	1	0	19	30				
SEMA5B	54437	broad.mit.edu	37	3	122680068	122680068	+	Missense_Mutation	SNP	C	C	T	rs555943228		TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr3:122680068C>T	ENST00000357599.3	-	2	429	c.43G>A	c.(43-45)Gtc>Atc	p.V15I	SEMA5B_ENST00000195173.4_Missense_Mutation_p.V15I|SEMA5B_ENST00000465147.1_Intron|SEMA5B_ENST00000451055.2_Missense_Mutation_p.V69I	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	15					cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		GGCCCAGGGACGAGGTGGTGG	0.612																																						ENST00000195173.4																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55						c.(43-45)Gtc>Atc		sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B							76.0	68.0	71.0					3																	122680068		2203	4300	6503	SO:0001583	missense	54437				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr3:122680068C>T	AB040878	CCDS35491.1, CCDS58848.1, CCDS74995.1	3q21.1	2008-07-18			ENSG00000082684	ENSG00000082684		"""Semaphorins"""	10737	protein-coding gene	gene with protein product		609298		SEMAG		8817451	Standard	NM_001256346		Approved	SemG, KIAA1445, FLJ10372	uc031sbm.1	Q9P283	OTTHUMG00000140392	ENST00000357599.3:c.43G>A	3.37:g.122680068C>T	ENSP00000350215:p.Val15Ile					SEMA5B_ENST00000451055.2_Missense_Mutation_p.V69I|SEMA5B_ENST00000465147.1_Intron|SEMA5B_ENST00000357599.3_Missense_Mutation_p.V15I	p.V15I			Q9P283	SEM5B_HUMAN		GBM - Glioblastoma multiforme(114;0.0367)	2	346	-			15					A8K5U2|B7Z393|F8W9U8|Q6DD89|Q6UY12|Q9NW17	Missense_Mutation	SNP	ENST00000357599.3	37	c.43G>A	CCDS35491.1	.	.	.	.	.	.	.	.	.	.	C	8.849	0.944008	0.18281	.	.	ENSG00000082684	ENST00000357599;ENST00000195173;ENST00000451055;ENST00000393583;ENST00000421053;ENST00000449546	T;T;T;T	0.35421	1.35;1.31;1.37;1.45	3.23	-1.91	0.07641	.	.	.	.	.	T	0.15349	0.0370	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.20505	-1.0273	9	0.87932	D	0	.	2.314	0.04194	0.4091:0.2812:0.0:0.3097	.	15	Q9P283	SEM5B_HUMAN	I	15;15;69;15;15;15	ENSP00000350215:V15I;ENSP00000195173:V15I;ENSP00000389588:V69I;ENSP00000377208:V15I	ENSP00000195173:V15I	V	-	1	0	SEMA5B	124162758	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.613000	0.02059	-0.282000	0.09128	0.591000	0.81541	GTC		0.612	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277165.1	NM_001031702		19	23	0	0	0	1	0	19	23				
VEZT	55591	broad.mit.edu	37	12	95645801	95645801	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr12:95645801G>A	ENST00000436874.1	+	2	227	c.122G>A	c.(121-123)tGc>tAc	p.C41Y	VEZT_ENST00000356859.4_3'UTR|VEZT_ENST00000261219.6_5'UTR	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane protein	41					chordate embryonic development (GO:0043009)|single organismal cell-cell adhesion (GO:0016337)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stereocilia ankle link complex (GO:0002142)				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						ACAGAAAAATGCACAACAGAG	0.393																																						ENST00000436874.1																			0				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						c.(121-123)tGc>tAc		vezatin, adherens junctions transmembrane protein							106.0	103.0	104.0					12																	95645801		1870	4098	5968	SO:0001583	missense	55591					acrosomal vesicle|adherens junction|integral to membrane|nucleus		g.chr12:95645801G>A	AF216644	CCDS44954.1	12q22	2011-02-15			ENSG00000028203	ENSG00000028203			18258	protein-coding gene	gene with protein product						11080149, 16199027, 21156161	Standard	NM_017599		Approved	DKFZP761C241	uc001tdz.2	Q9HBM0	OTTHUMG00000170182	ENST00000436874.1:c.122G>A	12.37:g.95645801G>A	ENSP00000410083:p.Cys41Tyr					VEZT_ENST00000356859.4_3'UTR|VEZT_ENST00000261219.6_5'UTR	p.C41Y	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN			2	227	+			41					Q6P1Q3|Q9H2F4|Q9H2U5|Q9NT70|Q9NVW0|Q9UF91	Missense_Mutation	SNP	ENST00000436874.1	37	c.122G>A	CCDS44954.1	.	.	.	.	.	.	.	.	.	.	G	18.98	3.737326	0.69304	.	.	ENSG00000028203	ENST00000436874;ENST00000549002;ENST00000551472;ENST00000552821;ENST00000397796	T;T;T	0.50548	2.39;0.74;0.79	5.76	4.86	0.63082	.	0.520943	0.18355	U	0.143777	T	0.44603	0.1301	L	0.60455	1.87	0.80722	D	1	P;P	0.36733	0.498;0.567	B;B	0.38327	0.157;0.271	T	0.29761	-1.0001	10	0.09338	T	0.73	-30.3288	14.7301	0.69374	0.0:0.1447:0.8553:0.0	.	41;41	C9J154;Q9HBM0	.;VEZA_HUMAN	Y	41;41;60;32;41	ENSP00000410083:C41Y;ENSP00000449591:C41Y;ENSP00000449701:C60Y	ENSP00000380898:C41Y	C	+	2	0	VEZT	94169932	1.000000	0.71417	0.888000	0.34837	0.879000	0.50718	3.862000	0.56009	1.413000	0.46997	0.655000	0.94253	TGC		0.393	VEZT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407804.2	NM_017599		7	18	0	0	0	1	0	7	18				
ITGAD	3681	broad.mit.edu	37	16	31426209	31426209	+	Missense_Mutation	SNP	T	T	A			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr16:31426209T>A	ENST00000389202.2	+	18	2229	c.2180T>A	c.(2179-2181)aTc>aAc	p.I727N		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	727					activated T cell proliferation (GO:0050798)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)	cell surface (GO:0009986)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GTGAGCCCCATCATTCTGCAC	0.572																																						ENST00000389202.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						c.(2179-2181)aTc>aAc		integrin, alpha D							189.0	162.0	171.0					16																	31426209		2197	4300	6497	SO:0001583	missense	3681				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr16:31426209T>A	U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886		"""CD molecules"", ""Integrins"""	6146	protein-coding gene	gene with protein product		602453				8666289, 9598326	Standard	NM_005353		Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.2180T>A	16.37:g.31426209T>A	ENSP00000373854:p.Ile727Asn						p.I727N	NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN			18	2229	+			727					Q15575|Q15576	Missense_Mutation	SNP	ENST00000389202.2	37	c.2180T>A	CCDS32438.1	.	.	.	.	.	.	.	.	.	.	T	17.92	3.506794	0.64410	.	.	ENSG00000156886	ENST00000444228;ENST00000389202	T	0.66995	-0.24	5.17	5.17	0.71159	Integrin alpha-2 (1);	.	.	.	.	T	0.81664	0.4870	M	0.82716	2.605	0.38141	D	0.938447	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.85795	0.1370	9	0.87932	D	0	.	11.3975	0.49851	0.0:0.0:0.0:1.0	.	743;727	Q59H14;Q13349	.;ITAD_HUMAN	N	743;727	ENSP00000373854:I727N	ENSP00000373854:I727N	I	+	2	0	ITGAD	31333710	0.998000	0.40836	1.000000	0.80357	0.709000	0.40893	2.829000	0.48128	1.965000	0.57142	0.332000	0.21555	ATC		0.572	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432836.1	NM_005353		47	73	0	0	0	1	0	47	73				
ZNF420	147923	broad.mit.edu	37	19	37619591	37619591	+	Silent	SNP	A	A	G			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr19:37619591A>G	ENST00000337995.3	+	5	1913	c.1698A>G	c.(1696-1698)aaA>aaG	p.K566K	ZNF420_ENST00000586540.1_3'UTR|ZNF585A_ENST00000588723.1_Intron|CTC-454I21.4_ENST00000587645.1_RNA|ZNF420_ENST00000304239.7_Intron	NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420	566					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AATGTGGGAAAGCCTTTATTC	0.428																																						ENST00000337995.3																			0				breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27						c.(1696-1698)aaA>aaG		zinc finger protein 420							98.0	92.0	94.0					19																	37619591		2203	4300	6503	SO:0001819	synonymous_variant	147923				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37619591A>G	AK056695	CCDS12498.1	19q13.12	2013-01-08			ENSG00000197050	ENSG00000197050		"""Zinc fingers, C2H2-type"", ""-"""	20649	protein-coding gene	gene with protein product							Standard	NM_144689		Approved	FLJ32191	uc002ofl.3	Q8TAQ5	OTTHUMG00000048168	ENST00000337995.3:c.1698A>G	19.37:g.37619591A>G						ZNF585A_ENST00000588723.1_Intron|CTC-454I21.4_ENST00000587645.1_RNA|ZNF420_ENST00000304239.7_Intron|ZNF420_ENST00000586540.1_3'UTR	p.K566K	NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	1913	+			566					B2RDY6|Q96ML5	Silent	SNP	ENST00000337995.3	37	c.1698A>G	CCDS12498.1																																																																																				0.428	ZNF420-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109587.3	NM_144689		4	26	0	0	0	1	0	4	26				
DNAH2	146754	broad.mit.edu	37	17	7679407	7679407	+	Missense_Mutation	SNP	C	C	A			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr17:7679407C>A	ENST00000572933.1	+	31	6347	c.4887C>A	c.(4885-4887)caC>caA	p.H1629Q	DNAH2_ENST00000389173.2_Missense_Mutation_p.H1629Q			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1629	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GGAACTGCCACCTGGCCCTCA	0.612																																						ENST00000572933.1																			0				NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(4885-4887)caC>caA		dynein, axonemal, heavy chain 2							74.0	67.0	69.0					17																	7679407		2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7679407C>A	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.4887C>A	17.37:g.7679407C>A	ENSP00000458355:p.His1629Gln					DNAH2_ENST00000389173.2_Missense_Mutation_p.H1629Q	p.H1629Q			Q9P225	DYH2_HUMAN			31	6347	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	1629			Stem (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.4887C>A	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	C	11.48	1.650239	0.29336	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.60548	0.18	5.76	-1.28	0.09318	Dynein heavy chain, domain-2 (1);	0.139827	0.49305	D	0.000153	T	0.38719	0.1051	L	0.46157	1.445	0.27547	N	0.95062	B	0.12630	0.006	B	0.14578	0.011	T	0.10132	-1.0643	10	0.30854	T	0.27	.	1.5603	0.02593	0.1184:0.3745:0.2214:0.2857	.	1629	Q9P225	DYH2_HUMAN	Q	1629	ENSP00000373825:H1629Q	ENSP00000353818:H1629Q	H	+	3	2	DNAH2	7620132	0.003000	0.15002	0.485000	0.27403	0.883000	0.51084	-0.061000	0.11693	-0.121000	0.11787	0.655000	0.94253	CAC		0.612	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		34	47	1	0	1.45844e-13	1	1.61195e-13	34	47				
TBC1D2	55357	broad.mit.edu	37	9	100983362	100983362	+	Missense_Mutation	SNP	A	A	C			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr9:100983362A>C	ENST00000375064.1	-	6	1165	c.1127T>G	c.(1126-1128)gTg>gGg	p.V376G	TBC1D2_ENST00000493589.2_Intron|TBC1D2_ENST00000375066.5_Missense_Mutation_p.V376G|TBC1D2_ENST00000342112.5_Missense_Mutation_p.V158G	NM_001267571.1	NP_001254500.1	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	376	Interaction with RAC1.				positive regulation of Rab GTPase activity (GO:0032851)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)	cadherin binding (GO:0045296)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		CAGGGCCTCCACCCGCCGGCC	0.697																																						ENST00000375066.5																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24						c.(1126-1128)gTg>gGg		TBC1 domain family, member 2							20.0	23.0	22.0					9																	100983362		2201	4298	6499	SO:0001583	missense	55357					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity	g.chr9:100983362A>C	AY026527	CCDS35080.1, CCDS59137.1, CCDS75865.1	9q22.32	2011-11-30			ENSG00000095383	ENSG00000095383			18026	protein-coding gene	gene with protein product	"""prostate antigen recognized and identified by SEREX"""	609871					Standard	NM_018421		Approved	PARIS1, TBC1D2A, Armus	uc011lvb.2	Q9BYX2	OTTHUMG00000020343	ENST00000375064.1:c.1127T>G	9.37:g.100983362A>C	ENSP00000364205:p.Val376Gly					TBC1D2_ENST00000493589.2_Intron|TBC1D2_ENST00000375064.1_Missense_Mutation_p.V376G|TBC1D2_ENST00000342112.5_Missense_Mutation_p.V158G	p.V376G	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)	6	1218	-		Myeloproliferative disorder(762;0.0255)	376			Interaction with RAC1.		B3KWD1|B4DQ05|B9A6J7|Q59EU0|Q5TBQ5|Q6IPC7|Q7L1K8|Q8WYT1|Q9H6A2|Q9NSH4	Missense_Mutation	SNP	ENST00000375064.1	37	c.1127T>G		.	.	.	.	.	.	.	.	.	.	A	18.09	3.547127	0.65311	.	.	ENSG00000095383	ENST00000375064;ENST00000375066;ENST00000342112	T;T;T	0.13778	2.56;2.96;2.56	5.41	5.41	0.78517	.	0.161434	0.43260	D	0.000598	T	0.22820	0.0551	M	0.62723	1.935	0.80722	D	1	P;P	0.49559	0.877;0.925	B;P	0.48227	0.368;0.571	T	0.01013	-1.1481	10	0.87932	D	0	.	12.9869	0.58596	1.0:0.0:0.0:0.0	.	376;376	Q9BYX2;Q9BYX2-2	TBD2A_HUMAN;.	G	376;376;158	ENSP00000364205:V376G;ENSP00000364207:V376G;ENSP00000341567:V158G	ENSP00000341567:V158G	V	-	2	0	TBC1D2	100023183	1.000000	0.71417	1.000000	0.80357	0.561000	0.35649	9.040000	0.93783	2.052000	0.61016	0.533000	0.62120	GTG		0.697	TBC1D2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000053366.1	NM_018421		11	28	0	0	0	1	0	11	28				
ZNF507	22847	broad.mit.edu	37	19	32843746	32843746	+	Missense_Mutation	SNP	A	A	G			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr19:32843746A>G	ENST00000311921.4	+	2	202	c.10A>G	c.(10-12)Agt>Ggt	p.S4G	ZNF507_ENST00000355898.5_Missense_Mutation_p.S4G|ZNF507_ENST00000544431.1_Missense_Mutation_p.S4G	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507	4					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					TATGGAAGAAAGTAGCAGTGT	0.358																																						ENST00000311921.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31						c.(10-12)Agt>Ggt		zinc finger protein 507							75.0	75.0	75.0					19																	32843746		2203	4300	6503	SO:0001583	missense	22847				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:32843746A>G	AB029007	CCDS32985.1	19q13.12	2008-02-05				ENSG00000168813		"""Zinc fingers, C2H2-type"""	23783	protein-coding gene	gene with protein product							Standard	NM_014910		Approved	KIAA1084	uc002ntd.3	Q8TCN5		ENST00000311921.4:c.10A>G	19.37:g.32843746A>G	ENSP00000312277:p.Ser4Gly					ZNF507_ENST00000544431.1_Missense_Mutation_p.S4G|ZNF507_ENST00000587084.1_3'UTR|ZNF507_ENST00000355898.5_Missense_Mutation_p.S4G	p.S4G	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN			2	202	+	Esophageal squamous(110;0.162)		4					A8K911|Q2TBF1|Q6MZU0|Q9UPR8	Missense_Mutation	SNP	ENST00000311921.4	37	c.10A>G	CCDS32985.1	.	.	.	.	.	.	.	.	.	.	A	7.034	0.561262	0.13498	.	.	ENSG00000168813	ENST00000355898;ENST00000311921;ENST00000544431	T;T;T	0.06933	3.56;3.56;3.24	5.5	3.37	0.38596	.	0.602245	0.19857	N	0.104520	T	0.05181	0.0138	N	0.25890	0.77	0.23994	N	0.996238	B;B	0.06786	0.0;0.001	B;B	0.08055	0.0;0.003	T	0.40384	-0.9566	10	0.27785	T	0.31	-7.6537	3.6057	0.08042	0.5576:0.0:0.2841:0.1583	.	4;4	Q8TCN5;Q8TCN5-2	ZN507_HUMAN;.	G	4	ENSP00000348162:S4G;ENSP00000312277:S4G;ENSP00000441549:S4G	ENSP00000312277:S4G	S	+	1	0	ZNF507	37535586	1.000000	0.71417	0.996000	0.52242	0.989000	0.77384	2.329000	0.43876	0.456000	0.26937	0.402000	0.26972	AGT		0.358	ZNF507-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450301.3	NM_014910		17	31	0	0	0	1	0	17	31				
TP53	7157	broad.mit.edu	37	17	7578188	7578188	+	Nonsense_Mutation	SNP	C	C	A			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr17:7578188C>A	ENST00000269305.4	-	6	850	c.661G>T	c.(661-663)Gag>Tag	p.E221*	TP53_ENST00000420246.2_Nonsense_Mutation_p.E221*|TP53_ENST00000455263.2_Nonsense_Mutation_p.E221*|TP53_ENST00000359597.4_Nonsense_Mutation_p.E221*|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Nonsense_Mutation_p.E221*|TP53_ENST00000445888.2_Nonsense_Mutation_p.E221*	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	221	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		E -> A (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.E221*(14)|p.?(11)|p.0?(8)|p.E221fs*4(3)|p.E128*(3)|p.E221K(2)|p.Y220_P223delYEPP(1)|p.E221fs*2(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y220fs*25(1)|p.E221fs*26(1)|p.V218fs*26(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TCAGGCGGCTCATAGGGCACC	0.552		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		48	Substitution - Nonsense(17)|Unknown(11)|Whole gene deletion(8)|Deletion - Frameshift(4)|Deletion - In frame(3)|Insertion - Frameshift(3)|Substitution - Missense(2)	p.E221*(14)|p.?(11)|p.0?(8)|p.E221fs*4(3)|p.E128*(3)|p.E221K(2)|p.Y220_P223delYEPP(1)|p.E221fs*2(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y220fs*25(1)|p.E221fs*26(1)|p.V218fs*26(1)	upper_aerodigestive_tract(9)|biliary_tract(5)|endometrium(5)|urinary_tract(5)|lung(5)|bone(4)|central_nervous_system(3)|oesophagus(2)|ovary(2)|vulva(1)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|salivary_gland(1)|breast(1)|skin(1)|large_intestine(1)|liver(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(661-663)Gag>Tag	Other conserved DNA damage response genes	tumor protein p53							100.0	92.0	94.0					17																	7578188		2203	4300	6503	SO:0001587	stop_gained	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578188C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.661G>T	17.37:g.7578188C>A	ENSP00000269305:p.Glu221*	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000445888.2_Nonsense_Mutation_p.E221*|TP53_ENST00000413465.2_Nonsense_Mutation_p.E221*|TP53_ENST00000455263.2_Nonsense_Mutation_p.E221*|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Nonsense_Mutation_p.E221*|TP53_ENST00000269305.4_Nonsense_Mutation_p.E221*	p.E221*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	793	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	221		E -> A (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.661G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	34	5.353387	0.95830	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	.	.	.	5.28	4.31	0.51392	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-8.6014	12.2235	0.54447	0.0:0.9162:0.0:0.0838	.	.	.	.	X	221;221;221;221;221;221;210;128;89;128	.	ENSP00000269305:E221X	E	-	1	0	TP53	7518913	1.000000	0.71417	0.299000	0.25016	0.996000	0.88848	6.045000	0.71020	1.364000	0.46038	0.563000	0.77884	GAG		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		10	21	1	0	0.0692343	1	0.070351	10	21				
SCN8A	6334	broad.mit.edu	37	12	52056629	52056629	+	Missense_Mutation	SNP	G	G	T			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr12:52056629G>T	ENST00000354534.6	+	2	206	c.28G>T	c.(28-30)Ggc>Tgc	p.G10C	SCN8A_ENST00000545061.1_Missense_Mutation_p.G10C|SCN8A_ENST00000550891.1_Missense_Mutation_p.G10C	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	10					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	TGCACCACCAGGCCCTGATAG	0.547																																						ENST00000354534.5																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						c.(28-30)Ggc>Tgc		sodium channel, voltage gated, type VIII, alpha subunit	Lamotrigine(DB00555)						113.0	112.0	112.0					12																	52056629		2035	4207	6242	SO:0001583	missense	6334				axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity	g.chr12:52056629G>T	AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10596	protein-coding gene	gene with protein product		600702	"""sodium channel, voltage gated, type VIII, alpha polypeptide"""	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.28G>T	12.37:g.52056629G>T	ENSP00000346534:p.Gly10Cys					SCN8A_ENST00000545061.1_Missense_Mutation_p.G10C|SCN8A_ENST00000550891.1_Missense_Mutation_p.G10C	p.G10C	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.181)	2	206	+			10					B9VWG8|O95788|Q9NYX2|Q9UPB2	Missense_Mutation	SNP	ENST00000354534.6	37	c.28G>T	CCDS44891.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.961231	0.92791	.	.	ENSG00000196876	ENST00000550891;ENST00000354534;ENST00000545061;ENST00000355133	D;D;D;D	0.97529	-4.39;-4.42;-4.38;-4.27	4.97	4.97	0.65823	.	.	.	.	.	D	0.98789	0.9592	M	0.91090	3.175	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99494	1.0951	9	0.87932	D	0	.	18.7994	0.92010	0.0:0.0:1.0:0.0	.	10	Q9UQD0	SCN8A_HUMAN	C	10	ENSP00000448415:G10C;ENSP00000346534:G10C;ENSP00000440360:G10C;ENSP00000347255:G10C	ENSP00000346534:G10C	G	+	1	0	SCN8A	50342896	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	9.657000	0.98554	2.760000	0.94817	0.655000	0.94253	GGC		0.547	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404372.3	NM_014191		47	89	1	0	1.00776e-21	1	1.14394e-21	47	89				
ITPR1	3708	broad.mit.edu	37	3	4824383	4824383	+	Silent	SNP	C	C	A	rs369524054		TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr3:4824383C>A	ENST00000443694.2	+	47	6423	c.6423C>A	c.(6421-6423)tcC>tcA	p.S2141S	ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000357086.4_Silent_p.S2108S|ITPR1_ENST00000423119.2_Silent_p.S2108S|ITPR1_ENST00000456211.2_Silent_p.S2093S|ITPR1_ENST00000354582.6_Silent_p.S2141S|ITPR1_ENST00000302640.8_Silent_p.S2141S			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	2156					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|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)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	GGGCGGCGTCCCCCAGGAACG	0.527																																						ENST00000354582.6																			0				NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106						c.(6421-6423)tcC>tcA		inositol 1,4,5-trisphosphate receptor, type 1							100.0	110.0	107.0					3																	4824383		2077	4183	6260	SO:0001819	synonymous_variant	3708				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding	g.chr3:4824383C>A	D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.6423C>A	3.37:g.4824383C>A						ITPR1_ENST00000456211.2_Silent_p.S2093S|ITPR1_ENST00000443694.2_Silent_p.S2141S|ITPR1_ENST00000423119.2_Silent_p.S2108S|ITPR1_ENST00000357086.4_Silent_p.S2108S|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000302640.8_Silent_p.S2141S	p.S2141S			Q14643	ITPR1_HUMAN		Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	49	6773	+			2156					E7EPX7|E9PDE9|Q14660|Q99897	Silent	SNP	ENST00000443694.2	37	c.6423C>A	CCDS54551.1																																																																																				0.527	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222		24	10	1	0	1.66031e-10	1	1.77287e-10	24	10				
VEZT	55591	broad.mit.edu	37	12	95645802	95645802	+	Nonsense_Mutation	SNP	C	C	A			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr12:95645802C>A	ENST00000436874.1	+	2	228	c.123C>A	c.(121-123)tgC>tgA	p.C41*	VEZT_ENST00000356859.4_3'UTR|VEZT_ENST00000261219.6_5'UTR	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane protein	41					chordate embryonic development (GO:0043009)|single organismal cell-cell adhesion (GO:0016337)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stereocilia ankle link complex (GO:0002142)				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						CAGAAAAATGCACAACAGAGG	0.398																																						ENST00000436874.1																			0				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						c.(121-123)tgC>tgA		vezatin, adherens junctions transmembrane protein							106.0	102.0	103.0					12																	95645802		1869	4098	5967	SO:0001587	stop_gained	55591					acrosomal vesicle|adherens junction|integral to membrane|nucleus		g.chr12:95645802C>A	AF216644	CCDS44954.1	12q22	2011-02-15			ENSG00000028203	ENSG00000028203			18258	protein-coding gene	gene with protein product						11080149, 16199027, 21156161	Standard	NM_017599		Approved	DKFZP761C241	uc001tdz.2	Q9HBM0	OTTHUMG00000170182	ENST00000436874.1:c.123C>A	12.37:g.95645802C>A	ENSP00000410083:p.Cys41*					VEZT_ENST00000356859.4_3'UTR|VEZT_ENST00000261219.6_5'UTR	p.C41*	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN			2	228	+			41					Q6P1Q3|Q9H2F4|Q9H2U5|Q9NT70|Q9NVW0|Q9UF91	Nonsense_Mutation	SNP	ENST00000436874.1	37	c.123C>A	CCDS44954.1	.	.	.	.	.	.	.	.	.	.	C	17.92	3.507629	0.64410	.	.	ENSG00000028203	ENST00000436874;ENST00000549002;ENST00000551472;ENST00000552821;ENST00000397796	.	.	.	5.76	1.9	0.25705	.	0.520943	0.18355	U	0.143777	.	.	.	.	.	.	0.49915	D	0.99983	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-30.3288	8.7027	0.34336	0.0:0.5761:0.0:0.4239	.	.	.	.	X	41;41;60;32;41	.	ENSP00000380898:C41X	C	+	3	2	VEZT	94169933	0.324000	0.24652	0.544000	0.28141	0.846000	0.48090	0.588000	0.23924	0.372000	0.24591	0.655000	0.94253	TGC		0.398	VEZT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407804.2	NM_017599		7	18	1	0	8.12818e-05	1	8.39468e-05	7	18				
DOPEY1	23033	broad.mit.edu	37	6	83847480	83847480	+	Missense_Mutation	SNP	G	G	T			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr6:83847480G>T	ENST00000349129.2	+	21	3979	c.3719G>T	c.(3718-3720)tGt>tTt	p.C1240F	DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000237163.5_Missense_Mutation_p.C1221F|DOPEY1_ENST00000369739.3_Missense_Mutation_p.C1231F	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	1240					protein transport (GO:0015031)					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		TCCTCACCTTGTATTTCAGGA	0.433																																						ENST00000349129.2																			0				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67						c.(3718-3720)tGt>tTt		dopey family member 1							96.0	89.0	91.0					6																	83847480		2203	4299	6502	SO:0001583	missense	23033				protein transport			g.chr6:83847480G>T	AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"""KIAA1117"""	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.3719G>T	6.37:g.83847480G>T	ENSP00000195654:p.Cys1240Phe					DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000237163.5_Missense_Mutation_p.C1221F|DOPEY1_ENST00000369739.3_Missense_Mutation_p.C1231F	p.C1240F	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.053)	21	3979	+		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)	1240					Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Missense_Mutation	SNP	ENST00000349129.2	37	c.3719G>T	CCDS4996.1	.	.	.	.	.	.	.	.	.	.	G	12.30	1.896016	0.33442	.	.	ENSG00000083097	ENST00000349129;ENST00000237163;ENST00000369739	T;T	0.24350	1.86;1.86	5.91	5.91	0.95273	.	0.055910	0.85682	D	0.000000	T	0.20251	0.0487	L	0.27053	0.805	0.80722	D	1	D;P;P	0.57899	0.981;0.947;0.947	P;P;P	0.48873	0.593;0.454;0.454	T	0.00923	-1.1513	10	0.56958	D	0.05	.	20.2956	0.98549	0.0:0.0:1.0:0.0	.	1131;1231;1240	E1P545;B2RWN9;Q5JWR5	.;.;DOP1_HUMAN	F	1240;1221;1221	ENSP00000195654:C1240F;ENSP00000237163:C1221F	ENSP00000237163:C1221F	C	+	2	0	DOPEY1	83904199	1.000000	0.71417	1.000000	0.80357	0.684000	0.39900	5.236000	0.65354	2.805000	0.96524	0.460000	0.39030	TGT		0.433	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043785.2	NM_015018		16	21	1	0	1.99824e-07	1	2.11578e-07	16	21				
GLCCI1	113263	broad.mit.edu	37	7	8126063	8126063	+	Silent	SNP	G	G	A			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr7:8126063G>A	ENST00000223145.5	+	8	2096	c.1539G>A	c.(1537-1539)gcG>gcA	p.A513A		NM_138426.3	NP_612435.1	Q86VQ1	GLCI1_HUMAN	glucocorticoid induced transcript 1	513						cytoplasm (GO:0005737)				endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		CCAGCACAGCGGGCTCCATGG	0.572																																						ENST00000223145.5																			0				endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25						c.(1537-1539)gcG>gcA		glucocorticoid induced transcript 1							146.0	166.0	159.0					7																	8126063		2203	4300	6503	SO:0001819	synonymous_variant	113263							g.chr7:8126063G>A	BC050291	CCDS34601.1	7p22.2	2008-08-18			ENSG00000106415	ENSG00000106415			18713	protein-coding gene	gene with protein product		614283					Standard	NM_138426		Approved	GIG18, FAM117C, TSSN1	uc003srk.4	Q86VQ1	OTTHUMG00000151984	ENST00000223145.5:c.1539G>A	7.37:g.8126063G>A							p.A513A	NM_138426.3	NP_612435.1	Q86VQ1	GLCI1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)	8	2096	+		Ovarian(82;0.0608)	513					A4D103|Q96FD0	Silent	SNP	ENST00000223145.5	37	c.1539G>A	CCDS34601.1																																																																																				0.572	GLCCI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324672.1	NM_138426		71	235	0	0	0	1	0	71	235				
SAMD9L	219285	broad.mit.edu	37	7	92763041	92763041	+	Silent	SNP	G	G	A			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr7:92763041G>A	ENST00000318238.4	-	5	3460	c.2244C>T	c.(2242-2244)acC>acT	p.T748T	SAMD9L_ENST00000437805.1_Silent_p.T748T|SAMD9L_ENST00000411955.1_Silent_p.T748T	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	748					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)		p.T748T(1)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TAGCCAGTGTGGTACCTCCAC	0.378																																						ENST00000318238.4																			1	Substitution - coding silent(1)	p.T748T(1)	endometrium(1)	central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88						c.(2242-2244)acC>acT		sterile alpha motif domain containing 9-like							117.0	115.0	116.0					7																	92763041		2203	4299	6502	SO:0001819	synonymous_variant	219285							g.chr7:92763041G>A	AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"""Sterile alpha motif (SAM) domain containing"""	1349	protein-coding gene	gene with protein product		611170	"""chromosome 7 open reading frame 6"""	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.2244C>T	7.37:g.92763041G>A						SAMD9L_ENST00000437805.1_Silent_p.T748T|SAMD9L_ENST00000411955.1_Silent_p.T748T	p.T748T	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		5	3460	-	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		748					A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Silent	SNP	ENST00000318238.4	37	c.2244C>T	CCDS34681.1																																																																																				0.378	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703		32	90	0	0	0	1	0	32	90				
KPNB1	3837	broad.mit.edu	37	17	45755518	45755518	+	Missense_Mutation	SNP	A	A	G			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr17:45755518A>G	ENST00000290158.4	+	18	2617	c.2210A>G	c.(2209-2211)aAt>aGt	p.N737S	KPNB1_ENST00000537679.1_Missense_Mutation_p.N521S|KPNB1_ENST00000535458.2_Missense_Mutation_p.N592S|KPNB1_ENST00000540627.1_Missense_Mutation_p.N592S	NM_001276453.1|NM_002265.4	NP_001263382.1|NP_002256.2	Q14974	IMB1_HUMAN	karyopherin (importin) beta 1	737					apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cytokine-mediated signaling pathway (GO:0019221)|intracellular transport of virus (GO:0075733)|NLS-bearing protein import into nucleus (GO:0006607)|protein import into nucleus (GO:0006606)|protein import into nucleus, translocation (GO:0000060)|ribosomal protein import into nucleus (GO:0006610)|small molecule metabolic process (GO:0044281)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum tubular network (GO:0071782)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270)			breast(1)|ovary(1)|pancreas(1)|skin(1)	4						GTTGTATTGAATACTCTTCAG	0.438																																						ENST00000290158.4																			0				breast(1)|ovary(1)|pancreas(1)|skin(1)	4						c.(2209-2211)aAt>aGt		karyopherin (importin) beta 1							137.0	134.0	135.0					17																	45755518		2203	4300	6503	SO:0001583	missense	3837				DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein domain specific binding|zinc ion binding	g.chr17:45755518A>G	L39793	CCDS11513.1, CCDS62228.1	17q21.32	2013-02-14			ENSG00000108424	ENSG00000108424		"""Importins"", ""Armadillo repeat containing"""	6400	protein-coding gene	gene with protein product	"""importin 1"""	602738				7615630, 7627554	Standard	NM_002265		Approved	NTF97, IPOB, MGC2155, MGC2156, MGC2157, IMB1, Impnb, IPO1	uc002ilt.2	Q14974	OTTHUMG00000036957	ENST00000290158.4:c.2210A>G	17.37:g.45755518A>G	ENSP00000290158:p.Asn737Ser					KPNB1_ENST00000535458.2_Missense_Mutation_p.N592S|KPNB1_ENST00000537679.1_Missense_Mutation_p.N521S|KPNB1_ENST00000540627.1_Missense_Mutation_p.N592S	p.N737S	NM_001276453.1|NM_002265.4	NP_001263382.1|NP_002256.2	Q14974	IMB1_HUMAN			18	2617	+			737					B7ZAV6|D3DTT3|Q14637|Q53XN2|Q96J27	Missense_Mutation	SNP	ENST00000290158.4	37	c.2210A>G	CCDS11513.1	.	.	.	.	.	.	.	.	.	.	A	15.37	2.814309	0.50527	.	.	ENSG00000108424	ENST00000535458;ENST00000290158;ENST00000540627;ENST00000537679	T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25	5.87	5.87	0.94306	Armadillo-like helical (1);Armadillo-type fold (1);	0.043810	0.85682	D	0.000000	T	0.44008	0.1273	N	0.05124	-0.11	0.39540	D	0.968804	B;B	0.11235	0.004;0.0	B;B	0.08055	0.003;0.0	T	0.49082	-0.8976	9	0.07644	T	0.81	-17.9635	15.9315	0.79663	1.0:0.0:0.0:0.0	.	521;737	F5H4R7;Q14974	.;IMB1_HUMAN	S	592;737;592;521	ENSP00000438253:N592S;ENSP00000290158:N737S;ENSP00000438964:N592S;ENSP00000445006:N521S	ENSP00000290158:N737S	N	+	2	0	KPNB1	43110517	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.332000	0.96446	2.248000	0.74166	0.533000	0.62120	AAT		0.438	KPNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089755.2	NM_002265		18	59	0	0	0	1	0	18	59				
ZNF451	26036	broad.mit.edu	37	6	57006800	57006800	+	Missense_Mutation	SNP	T	T	G			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr6:57006800T>G	ENST00000370706.4	+	9	1155	c.911T>G	c.(910-912)tTg>tGg	p.L304W	ZNF451_ENST00000357489.3_Missense_Mutation_p.L304W|RP11-203B9.4_ENST00000592038.1_RNA|ZNF451_ENST00000491832.2_Missense_Mutation_p.L304W|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	304					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			AAGAAACTTTTGATCTCTCTG	0.388																																						ENST00000370706.4																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						c.(910-912)tTg>tGg		zinc finger protein 451							109.0	104.0	106.0					6																	57006800		2203	4300	6503	SO:0001583	missense	26036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:57006800T>G	AB011148	CCDS4960.1, CCDS43477.1, CCDS59026.1	6p12.1	2012-08-08			ENSG00000112200	ENSG00000112200		"""Zinc fingers, C2H2-type"""	21091	protein-coding gene	gene with protein product		615708				9628581	Standard	NM_001031623		Approved	KIAA0576, COASTER, dJ417I1.1, KIAA1702	uc003pdm.2	Q9Y4E5	OTTHUMG00000014916	ENST00000370706.4:c.911T>G	6.37:g.57006800T>G	ENSP00000359740:p.Leu304Trp					RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|ZNF451_ENST00000357489.3_Missense_Mutation_p.L304W|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000591553.1_RNA|ZNF451_ENST00000491832.2_Missense_Mutation_p.L304W|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA	p.L304W	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)		9	1155	+	Lung NSC(77;0.145)		304					Q5VVE9|Q5VVF1|Q86YE4|Q8N380|Q8TD15|Q9C0G1|Q9NQM1	Missense_Mutation	SNP	ENST00000370706.4	37	c.911T>G	CCDS43477.1	.	.	.	.	.	.	.	.	.	.	T	17.89	3.500274	0.64298	.	.	ENSG00000112200	ENST00000370706;ENST00000357489;ENST00000491832	T;T;T	0.28255	1.62;1.62;1.62	5.02	5.02	0.67125	.	0.000000	0.64402	D	0.000003	T	0.48021	0.1477	M	0.76002	2.32	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;0.999	T	0.55075	-0.8197	10	0.87932	D	0	-8.7122	15.0372	0.71757	0.0:0.0:0.0:1.0	.	304;304;304;304	Q9Y4E5-2;Q9Y4E5;E9PH99;Q4KMR5	.;ZN451_HUMAN;.;.	W	304	ENSP00000359740:L304W;ENSP00000350083:L304W;ENSP00000421645:L304W	ENSP00000350083:L304W	L	+	2	0	ZNF451	57114759	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.895000	0.75660	2.014000	0.59158	0.528000	0.53228	TTG		0.388	ZNF451-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041035.2	NM_015555		27	18	0	0	0	1	0	27	18				
ADPRM	56985	broad.mit.edu	37	17	10614306	10614306	+	Missense_Mutation	SNP	T	T	A			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr17:10614306T>A	ENST00000379774.4	+	4	965	c.874T>A	c.(874-876)Tac>Aac	p.Y292N	ADPRM_ENST00000609540.1_Nonsense_Mutation_p.Y290*	NM_020233.4	NP_064618.3	Q3LIE5	ADPRM_HUMAN	ADP-ribose/CDP-alcohol diphosphatase, manganese-dependent	292							ADP-ribose diphosphatase activity (GO:0047631)|CDP-glycerol diphosphatase activity (GO:0047734)|metal ion binding (GO:0046872)										TTTTGGTGTATACCACGTCAA	0.478																																						ENST00000379774.4																			0											c.(874-876)Tac>Aac		ADP-ribose/CDP-alcohol diphosphatase, manganese-dependent							208.0	176.0	187.0					17																	10614306		2203	4300	6503	SO:0001583	missense	56985							g.chr17:10614306T>A	BC070155	CCDS11159.2	17p13.1	2012-07-20	2012-07-20	2012-07-20	ENSG00000170222	ENSG00000170222	3.6.1.13, 3.6.1.16, 3.6.1.53		30925	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 48"""	C17orf48		18352857	Standard	XM_005256738		Approved	MDS006	uc002gmt.3	Q3LIE5	OTTHUMG00000130366	ENST00000379774.4:c.874T>A	17.37:g.10614306T>A	ENSP00000369099:p.Tyr292Asn						p.Y292N	NM_020233.4	NP_064618.3					4	965	+								A8K9B4|D3DTS4|Q9BVD4|Q9NRU8	Missense_Mutation	SNP	ENST00000379774.4	37	c.874T>A	CCDS11159.2	.	.	.	.	.	.	.	.	.	.	T	12.41	1.930008	0.34096	.	.	ENSG00000170222	ENST00000379774	D	0.94280	-3.39	5.67	4.7	0.59300	.	0.100316	0.64402	D	0.000002	D	0.86969	0.6061	N	0.14661	0.345	0.80722	D	1	B	0.17038	0.02	B	0.16722	0.016	T	0.82908	-0.0224	10	0.52906	T	0.07	-11.2614	13.5376	0.61655	0.0:0.9227:0.0:0.0773	.	292	Q3LIE5	ADPRM_HUMAN	N	292	ENSP00000369099:Y292N	ENSP00000369099:Y292N	Y	+	1	0	C17orf48	10555031	1.000000	0.71417	1.000000	0.80357	0.185000	0.23345	5.720000	0.68470	1.381000	0.46364	-0.462000	0.05337	TAC		0.478	ADPRM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252732.2	NM_020233		16	36	0	0	0	1	0	16	36				
FAT4	79633	broad.mit.edu	37	4	126238259	126238259	+	Silent	SNP	G	G	A	rs372609586		TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr4:126238259G>A	ENST00000394329.3	+	1	706	c.693G>A	c.(691-693)cgG>cgA	p.R231R		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	231	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CTAAGCGGCGGGGCTACCTTC	0.597											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(691-693)cgG>cgA		FAT atypical cadherin 4							33.0	38.0	37.0					4																	126238259		2068	4199	6267	SO:0001819	synonymous_variant	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126238259G>A	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.693G>A	4.37:g.126238259G>A			OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1548		p.R231R	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			1	706	+			231			Cadherin 2.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	c.693G>A	CCDS3732.3																																																																																				0.597	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		14	19	0	0	0	1	0	14	19				
TXN2	25828	broad.mit.edu	37	22	36876667	36876667	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr22:36876667C>T	ENST00000216185.2	-	2	684	c.218G>A	c.(217-219)cGa>cAa	p.R73Q	TXN2_ENST00000416967.1_5'UTR|TXN2_ENST00000487725.1_5'UTR|TXN2_ENST00000403313.1_Missense_Mutation_p.R73Q			Q99757	THIOM_HUMAN	thioredoxin 2	73	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|cellular response to nutrient levels (GO:0031669)|glycerol ether metabolic process (GO:0006662)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to glucose (GO:0009749)|response to hormone (GO:0009725)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to organic cyclic compound (GO:0014070)|response to oxidative stress (GO:0006979)	dendrite (GO:0030425)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)	protein disulfide oxidoreductase activity (GO:0015035)			breast(1)|lung(1)|prostate(1)	3						GTTGACCACTCGGTCTTGAAA	0.493																																						ENST00000216185.2																			0				breast(1)|lung(1)|prostate(1)	3						c.(217-219)cGa>cAa		thioredoxin 2							150.0	130.0	137.0					22																	36876667		2203	4300	6503	SO:0001583	missense	25828				cell redox homeostasis|electron transport chain|glycerol ether metabolic process|transport	mitochondrion|nucleolus	electron carrier activity	g.chr22:36876667C>T	U78678	CCDS13928.1	22q13.1	2008-06-11			ENSG00000100348	ENSG00000100348			17772	protein-coding gene	gene with protein product		609063				9006939, 17220299	Standard	NM_012473		Approved	MT-TRX	uc003apk.1	Q99757	OTTHUMG00000150596	ENST00000216185.2:c.218G>A	22.37:g.36876667C>T	ENSP00000216185:p.Arg73Gln					TXN2_ENST00000416967.1_5'UTR|TXN2_ENST00000403313.1_Missense_Mutation_p.R73Q|TXN2_ENST00000487725.1_5'UTR	p.R73Q			Q99757	THIOM_HUMAN			2	684	-			73			Thioredoxin.		Q5JZA0|Q6FH60|Q9UH29	Missense_Mutation	SNP	ENST00000216185.2	37	c.218G>A	CCDS13928.1	.	.	.	.	.	.	.	.	.	.	c	34	5.299207	0.95574	.	.	ENSG00000100348	ENST00000216185;ENST00000403313	T;T	0.21361	2.01;2.01	5.32	4.31	0.51392	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.121670	0.53938	D	0.000054	T	0.29914	0.0748	L	0.33137	0.985	0.80722	D	1	D	0.76494	0.999	P	0.58721	0.844	T	0.02491	-1.1151	10	0.44086	T	0.13	-15.0325	14.34	0.66619	0.0:0.9284:0.0:0.0716	.	73	Q99757	THIOM_HUMAN	Q	73	ENSP00000216185:R73Q;ENSP00000385393:R73Q	ENSP00000216185:R73Q	R	-	2	0	TXN2	35206613	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.567000	0.60850	1.408000	0.46895	0.562000	0.76482	CGA		0.493	TXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319016.1	NM_012473		27	46	0	0	0	1	0	27	46				
IGDCC4	57722	broad.mit.edu	37	15	65680855	65680855	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr15:65680855C>T	ENST00000352385.2	-	16	2986	c.2777G>A	c.(2776-2778)cGc>cAc	p.R926H	IGDCC4_ENST00000558048.1_5'Flank	NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	926	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						CACCTCTGTGCGCGCCCCCAT	0.617																																						ENST00000352385.2																			0				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						c.(2776-2778)cGc>cAc		immunoglobulin superfamily, DCC subclass, member 4							112.0	106.0	108.0					15																	65680855		2201	4299	6500	SO:0001583	missense	57722					integral to membrane|plasma membrane		g.chr15:65680855C>T		CCDS10206.1	15q22.31	2013-02-11			ENSG00000103742	ENSG00000103742		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13770	protein-coding gene	gene with protein product	"""likely ortholog of mouse neighbor of Punc E11"""						Standard	NM_020962		Approved	NOPE, LOC57722	uc002aou.1	Q8TDY8	OTTHUMG00000133136	ENST00000352385.2:c.2777G>A	15.37:g.65680855C>T	ENSP00000319623:p.Arg926His						p.R926H	NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN			16	2986	-			926			Fibronectin type-III 5.		Q9HCE4	Missense_Mutation	SNP	ENST00000352385.2	37	c.2777G>A	CCDS10206.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.017236	0.75161	.	.	ENSG00000103742	ENST00000352385;ENST00000356152	T	0.58358	0.34	5.16	5.16	0.70880	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.359979	0.26496	N	0.024043	T	0.58148	0.2102	L	0.45137	1.4	0.27349	N	0.956296	D	0.76494	0.999	D	0.65323	0.934	T	0.54111	-0.8342	10	0.49607	T	0.09	-21.6557	6.7092	0.23268	0.0:0.7789:0.0:0.2211	.	926	Q8TDY8	IGDC4_HUMAN	H	926;655	ENSP00000319623:R926H	ENSP00000319623:R926H	R	-	2	0	IGDCC4	63467908	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	3.114000	0.50383	2.403000	0.81681	0.561000	0.74099	CGC		0.617	IGDCC4-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256825.2	NM_020962		45	95	0	0	0	1	0	45	95				
LINC01317	104355287	broad.mit.edu	37	2	33952891	33952891	+	lincRNA	SNP	C	C	T			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr2:33952891C>T	ENST00000366209.2	+	0	68				MYADML_ENST00000474610.1_RNA																							CCATAGGCCCCTTCCAGGCGC	0.657																																						ENST00000366209.2																			0																																																			104355287							g.chr2:33952891C>T																													2.37:g.33952891C>T						MYADML_ENST00000474610.1_RNA								0	68	+									RNA	SNP	ENST00000366209.2	37																																																																																						0.657	AC009499.1-002	KNOWN	non_canonical_polymorphism|basic	lincRNA	lincRNA	OTTHUMT00000325406.1			3	12	0	0	0	1	0	3	12				
DNAH7	56171	broad.mit.edu	37	2	196865488	196865488	+	Silent	SNP	G	G	A	rs370258473		TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr2:196865488G>A	ENST00000312428.6	-	12	1393	c.1293C>T	c.(1291-1293)gaC>gaT	p.D431D	DNAH7_ENST00000410072.1_Silent_p.D431D	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	431	Stem. {ECO:0000250}.				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						TAATCATGACGTCATAAACAT	0.338																																						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.(1291-1293)gaC>gaT		dynein, axonemal, heavy chain 7		A		1,3665		0,1,1832	163.0	165.0	164.0		1293	-2.8	0.9	2		164	0,8160		0,0,4080	no	coding-synonymous	DNAH7	NM_018897.2		0,1,5912	AA,AG,GG		0.0,0.0273,0.0085		431/4025	196865488	1,11825	1833	4080	5913	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.chr2:196865488G>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.1293C>T	2.37:g.196865488G>A						DNAH7_ENST00000410072.1_Silent_p.D431D	p.D431D	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN			12	1393	-			431			Stem (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Silent	SNP	ENST00000312428.6	37	c.1293C>T	CCDS42794.1																																																																																				0.338	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		18	47	0	0	0	1	0	18	47				
IGFL3	388555	broad.mit.edu	37	19	46627553	46627553	+	Missense_Mutation	SNP	G	G	C			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr19:46627553G>C	ENST00000341415.2	-	2	75	c.51C>G	c.(49-51)ttC>ttG	p.F17L	AC007193.6_ENST00000597989.1_lincRNA	NM_207393.1	NP_997276.1	Q6UXB1	IGFL3_HUMAN	IGF-like family member 3	17						extracellular region (GO:0005576)				endometrium(1)|large_intestine(1)|lung(5)	7		Ovarian(192;0.0175)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00473)|GBM - Glioblastoma multiforme(486;0.0149)|Epithelial(262;0.239)		ACTGGAGGAGGAAGACTGTTA	0.428																																						ENST00000341415.2																			0				endometrium(1)|large_intestine(1)|lung(5)	7						c.(49-51)ttC>ttG		IGF-like family member 3							103.0	77.0	86.0					19																	46627553		2187	4300	6487	SO:0001583	missense	388555					extracellular region	protein binding	g.chr19:46627553G>C	AY358434	CCDS33058.1	19q13.32	2006-07-14				ENSG00000188624			32930	protein-coding gene	gene with protein product		610546				14702039	Standard	NM_207393		Approved	UNQ483	uc002pea.1	Q6UXB1		ENST00000341415.2:c.51C>G	19.37:g.46627553G>C	ENSP00000344860:p.Phe17Leu					AC007193.6_ENST00000597989.1_lincRNA	p.F17L	NM_207393.1	NP_997276.1	Q6UXB1	IGFL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00473)|GBM - Glioblastoma multiforme(486;0.0149)|Epithelial(262;0.239)	2	75	-		Ovarian(192;0.0175)|all_neural(266;0.0476)	17						Missense_Mutation	SNP	ENST00000341415.2	37	c.51C>G	CCDS33058.1	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.950775	0.00475	.	.	ENSG00000188624	ENST00000341415	T	0.21191	2.02	1.26	0.149	0.14863	.	.	.	.	.	T	0.09291	0.0229	N	0.21373	0.66	0.09310	N	1	B	0.14805	0.011	B	0.15484	0.013	T	0.39231	-0.9624	9	0.02654	T	1	-2.365	3.5379	0.07800	0.2765:0.0:0.7235:0.0	.	17	Q6UXB1	IGFL3_HUMAN	L	17	ENSP00000344860:F17L	ENSP00000344860:F17L	F	-	3	2	IGFL3	51319393	0.003000	0.15002	0.003000	0.11579	0.024000	0.10985	0.625000	0.24477	0.083000	0.17047	0.411000	0.27672	TTC		0.428	IGFL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421323.1	NM_207393		17	25	0	0	0	1	0	17	25				
SETX	23064	broad.mit.edu	37	9	135205684	135205684	+	Missense_Mutation	SNP	T	T	C			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr9:135205684T>C	ENST00000224140.5	-	10	1483	c.1301A>G	c.(1300-1302)aAt>aGt	p.N434S	SETX_ENST00000393220.1_Missense_Mutation_p.N434S|SETX_ENST00000372169.2_Missense_Mutation_p.N434S	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	434					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		GTACAGATGATTAACAACCTG	0.393																																						ENST00000372169.2																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97						c.(1300-1302)aAt>aGt		senataxin							118.0	100.0	106.0					9																	135205684		2203	4300	6503	SO:0001583	missense	23064				cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity	g.chr9:135205684T>C	AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"""amyotrophic lateral sclerosis 4"", ""spinocerebellar ataxia, recessive, non-Friedreich type 1"""	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.1301A>G	9.37:g.135205684T>C	ENSP00000224140:p.Asn434Ser					SETX_ENST00000224140.5_Missense_Mutation_p.N434S|SETX_ENST00000393220.1_Missense_Mutation_p.N434S	p.N434S			Q7Z333	SETX_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)	10	1483	-		Myeloproliferative disorder(178;0.204)	434					A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Missense_Mutation	SNP	ENST00000224140.5	37	c.1301A>G	CCDS6947.1	.	.	.	.	.	.	.	.	.	.	T	14.93	2.681291	0.47991	.	.	ENSG00000107290	ENST00000224140;ENST00000372169;ENST00000393220	T;T;T	0.80033	-1.33;-1.33;-1.33	5.74	5.74	0.90152	.	0.062043	0.64402	D	0.000007	T	0.66386	0.2784	N	0.08118	0	0.24790	N	0.992761	B;B;B	0.09022	0.0;0.0;0.002	B;B;B	0.04013	0.001;0.0;0.001	T	0.61946	-0.6958	10	0.72032	D	0.01	.	15.2168	0.73274	0.0:0.0:0.0:1.0	.	434;434;434	Q7Z333-3;Q7Z333;Q7Z333-4	.;SETX_HUMAN;.	S	434	ENSP00000224140:N434S;ENSP00000361242:N434S;ENSP00000376913:N434S	ENSP00000224140:N434S	N	-	2	0	SETX	134195505	1.000000	0.71417	0.996000	0.52242	0.768000	0.43524	6.396000	0.73234	2.187000	0.69744	0.528000	0.53228	AAT		0.393	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	NM_015046		19	37	0	0	0	1	0	19	37				
CPB1	1360	broad.mit.edu	37	3	148575247	148575247	+	Missense_Mutation	SNP	G	G	T			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr3:148575247G>T	ENST00000491148.1	+	11	1319	c.985G>T	c.(985-987)Gcc>Tcc	p.A329S	CPB1_ENST00000282957.4_Missense_Mutation_p.A329S|CPB1_ENST00000498639.1_3'UTR|RP11-680B3.2_ENST00000488190.1_RNA			P15086	CBPB1_HUMAN	carboxypeptidase B1 (tissue)	329						extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			TTTGCAGAATGCCCTGGCTAA	0.418																																						ENST00000491148.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38						c.(985-987)Gcc>Tcc		carboxypeptidase B1 (tissue)							113.0	103.0	106.0					3																	148575247		2203	4300	6503	SO:0001583	missense	1360				proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding	g.chr3:148575247G>T	AJ224866	CCDS33874.1	3q24	2012-02-10			ENSG00000153002	ENSG00000153002	3.4.17.2		2299	protein-coding gene	gene with protein product	"""pancreatic carboxypeptidase B"", ""tissue carboxypeptidase B"", ""protaminase"""	114852					Standard	XM_005247124		Approved		uc003ewl.3	P15086	OTTHUMG00000159520	ENST00000491148.1:c.985G>T	3.37:g.148575247G>T	ENSP00000417222:p.Ala329Ser					CPB1_ENST00000282957.4_Missense_Mutation_p.A329S|CPB1_ENST00000498639.1_3'UTR|RP11-680B3.2_ENST00000488190.1_RNA	p.A329S			P15086	CBPB1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)		11	1319	+			329					O60834|Q53XJ0|Q96BQ8	Missense_Mutation	SNP	ENST00000491148.1	37	c.985G>T	CCDS33874.1	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.992804	0.00439	.	.	ENSG00000153002	ENST00000491148;ENST00000282957	T;T	0.09073	3.02;3.02	6.02	-6.66	0.01789	Peptidase M14, carboxypeptidase A (2);	0.824408	0.12035	N	0.505569	T	0.03305	0.0096	N	0.13299	0.325	0.09310	N	0.999999	B	0.06786	0.001	B	0.13407	0.009	T	0.44143	-0.9347	10	0.06757	T	0.87	.	9.5287	0.39180	0.5011:0.0:0.3511:0.1478	.	329	P15086	CBPB1_HUMAN	S	329	ENSP00000417222:A329S;ENSP00000282957:A329S	ENSP00000282957:A329S	A	+	1	0	CPB1	150057937	0.000000	0.05858	0.002000	0.10522	0.041000	0.13682	-0.653000	0.05360	-1.712000	0.01393	-1.884000	0.00543	GCC		0.418	CPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355928.1	NM_001871		10	30	1	0	0.000219431	1	0.000224783	10	30				
TSPYL6	388951	broad.mit.edu	37	2	54483268	54483268	+	Silent	SNP	A	A	G			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr2:54483268A>G	ENST00000317802.7	-	1	141	c.21T>C	c.(19-21)ccT>ccC	p.P7P	ACYP2_ENST00000606865.1_Intron|ACYP2_ENST00000607452.1_Intron|ACYP2_ENST00000394666.3_Intron|ACYP2_ENST00000303536.4_Intron	NM_001003937.2	NP_001003937.2	Q8N831	TSYL6_HUMAN	TSPY-like 6	7					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(1)|ovary(1)|skin(1)|stomach(2)	20						CGGGGCTGTGAGGACTCTCCG	0.587																																						ENST00000317802.7																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(1)|ovary(1)|skin(1)|stomach(2)	20						c.(19-21)ccT>ccC		TSPY-like 6							74.0	85.0	82.0					2																	54483268		2013	4168	6181	SO:0001819	synonymous_variant	388951				nucleosome assembly	nucleus		g.chr2:54483268A>G	AK097417	CCDS42682.1	2p16.3	2007-10-22			ENSG00000178021	ENSG00000178021			14521	protein-coding gene	gene with protein product							Standard	NM_001003937		Approved		uc002rxr.2	Q8N831	OTTHUMG00000151823	ENST00000317802.7:c.21T>C	2.37:g.54483268A>G						ACYP2_ENST00000607452.1_Intron|ACYP2_ENST00000394666.3_Intron|ACYP2_ENST00000303536.4_Intron|ACYP2_ENST00000606865.1_Intron	p.P7P	NM_001003937.2	NP_001003937.2	Q8N831	TSYL6_HUMAN			1	141	-			7					Q6NUJ3	Silent	SNP	ENST00000317802.7	37	c.21T>C	CCDS42682.1																																																																																				0.587	TSPYL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324069.3	XM_371494		44	59	0	0	0	1	0	44	59				
MAGI1	9223	broad.mit.edu	37	3	65425617	65425617	+	Nonsense_Mutation	SNP	G	G	A			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr3:65425617G>A	ENST00000497477.2	-	9	1206	c.1207C>T	c.(1207-1209)Cag>Tag	p.Q403*	MAGI1_ENST00000402939.2_Nonsense_Mutation_p.Q403*|MAGI1_ENST00000470990.1_5'UTR|MAGI1_ENST00000330909.8_Nonsense_Mutation_p.Q403*|MAGI1_ENST00000483466.1_Nonsense_Mutation_p.Q403*			Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	403	Poly-Gln.				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)		tgctgctgctgctgctCAAGC	0.512											OREG0015658	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										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.(1207-1209)Cag>Tag		membrane associated guanylate kinase, WW and PDZ domain containing 1							107.0	90.0	96.0					3																	65425617		2203	4300	6503	SO:0001587	stop_gained	9223				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding	g.chr3:65425617G>A	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	ENST00000497477.2:c.1207C>T	3.37:g.65425617G>A	ENSP00000424369:p.Gln403*		OREG0015658	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1084	MAGI1_ENST00000483466.1_Nonsense_Mutation_p.Q403*|MAGI1_ENST00000470990.1_5'UTR|MAGI1_ENST00000402939.2_Nonsense_Mutation_p.Q403*|MAGI1_ENST00000497477.2_Nonsense_Mutation_p.Q403*	p.Q403*	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)	9	1206	-		Lung NSC(201;0.0016)	403			Poly-Gln.		A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Nonsense_Mutation	SNP	ENST00000497477.2	37	c.1207C>T		.	.	.	.	.	.	.	.	.	.	G	37	6.158780	0.97334	.	.	ENSG00000151276	ENST00000402939;ENST00000330909;ENST00000422949;ENST00000463103;ENST00000483466;ENST00000497477;ENST00000472257;ENST00000479287	.	.	.	5.57	5.57	0.84162	.	0.358253	0.29369	N	0.012358	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07990	T	0.79	-0.1911	19.5516	0.95323	0.0:0.0:1.0:0.0	.	.	.	.	X	403;403;299;278;403;403;189;153	.	ENSP00000331157:Q403X	Q	-	1	0	MAGI1	65400657	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.540000	0.82074	2.623000	0.88846	0.585000	0.79938	CAG		0.512	MAGI1-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000349132.2	NM_004742		27	26	0	0	0	1	0	27	26				
PEBP1	5037	broad.mit.edu	37	12	118582403	118582403	+	Missense_Mutation	SNP	A	A	G			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr12:118582403A>G	ENST00000261313.2	+	4	711	c.359A>G	c.(358-360)tAt>tGt	p.Y120C	PEBP1_ENST00000542939.1_3'UTR	NM_002567.2	NP_002558.1	P30086	PEBP1_HUMAN	phosphatidylethanolamine binding protein 1	120	Interaction with RAF1.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|phosphatidylethanolamine binding (GO:0008429)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|serine-type endopeptidase inhibitor activity (GO:0004867)			ovary(1)	1	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTCCACCGCTATGTCTGGCTG	0.547																																					NSCLC(44;94 1357 12187 49467)	ENST00000261313.2																			0				ovary(1)	1						c.(358-360)tAt>tGt		phosphatidylethanolamine binding protein 1							54.0	46.0	48.0					12																	118582403		2203	4300	6503	SO:0001583	missense	5037						ATP binding|phosphatidylethanolamine binding|serine-type endopeptidase inhibitor activity	g.chr12:118582403A>G	X85033	CCDS9187.1	12q24	2009-06-16	2006-02-16	2006-02-16	ENSG00000089220	ENSG00000089220			8630	protein-coding gene	gene with protein product	"""Raf kinase inhibitory protein"", ""hippocampal cholinergic neurostimulating peptide"""	604591	"""prostatic binding protein"""	PBP		15782137	Standard	NM_002567		Approved	RKIP, HCNP, PEBP	uc001twu.1	P30086	OTTHUMG00000168860	ENST00000261313.2:c.359A>G	12.37:g.118582403A>G	ENSP00000261313:p.Tyr120Cys					PEBP1_ENST00000542939.1_3'UTR	p.Y120C	NM_002567.2	NP_002558.1	P30086	PEBP1_HUMAN			4	711	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		120					B2R4S1	Missense_Mutation	SNP	ENST00000261313.2	37	c.359A>G	CCDS9187.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.257361	0.80246	.	.	ENSG00000089220	ENST00000261313;ENST00000418769	T	0.64438	-0.1	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	D	0.86003	0.5829	H	0.97465	4.01	0.80722	D	1	D;D	0.64830	0.994;0.989	D;D	0.72075	0.959;0.976	D	0.91005	0.4845	10	0.87932	D	0	.	15.1768	0.72920	1.0:0.0:0.0:0.0	.	120;120	B4DRT4;P30086	.;PEBP1_HUMAN	C	120	ENSP00000261313:Y120C	ENSP00000261313:Y120C	Y	+	2	0	PEBP1	117066786	1.000000	0.71417	0.925000	0.36789	0.940000	0.58332	8.705000	0.91357	2.223000	0.72356	0.533000	0.62120	TAT		0.547	PEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401405.1	NM_002567		11	13	0	0	0	1	0	11	13				
OR2Z1	284383	broad.mit.edu	37	19	8842044	8842044	+	Silent	SNP	C	C	T			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr19:8842044C>T	ENST00000324060.2	+	1	729	c.654C>T	c.(652-654)taC>taT	p.Y218Y		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	218						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CCACCTCCTACGGCCACGTGT	0.582																																						ENST00000324060.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(652-654)taC>taT		olfactory receptor, family 2, subfamily Z, member 1							105.0	88.0	94.0					19																	8842044		2203	4300	6503	SO:0001819	synonymous_variant	284383				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:8842044C>T	AC008753	CCDS32895.1	19p13.2	2013-09-20	2002-11-13		ENSG00000181733	ENSG00000181733		"""GPCR / Class A : Olfactory receptors"""	15391	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily Z, member 2"""	OR2Z2			Standard	NM_001004699		Approved		uc010xkg.2	Q8NG97	OTTHUMG00000182195	ENST00000324060.2:c.654C>T	19.37:g.8842044C>T							p.Y218Y	NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN			1	729	+			218					B9EH50|Q6IFK0|Q96R25	Silent	SNP	ENST00000324060.2	37	c.654C>T	CCDS32895.1																																																																																				0.582	OR2Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459954.1			21	43	0	0	0	1	0	21	43				
GPATCH2	55105	broad.mit.edu	37	1	217622681	217622681	+	Splice_Site	SNP	T	T	G			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr1:217622681T>G	ENST00000366935.3	-	9	1388		c.e9-2			NM_018040.2	NP_060510.1	Q9NW75	GPTC2_HUMAN	G patch domain containing 2						negative regulation of phosphatase activity (GO:0010923)		nucleic acid binding (GO:0003676)			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)	35				OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)		CTTGTTTGCCTACGAATAATT	0.358																																						ENST00000366935.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)	35						c.e9-2		G patch domain containing 2							122.0	112.0	116.0					1																	217622681		2203	4300	6503	SO:0001630	splice_region_variant	55105					intracellular	nucleic acid binding	g.chr1:217622681T>G	AK001114	CCDS1518.1, CCDS73031.1	1q41	2013-01-28		2006-12-13	ENSG00000092978	ENSG00000092978		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""G patch domain containing"""	25499	protein-coding gene	gene with protein product	"""cancer/testis antigen 110"", ""protein phosphatase 1, regulatory subunit 30"""			GPATC2		19432882, 15375528	Standard	XM_005273174		Approved	FLJ10252, CT110, PPP1R30	uc001hlf.1	Q9NW75	OTTHUMG00000000527	ENST00000366935.3:c.1278-2A>C	1.37:g.217622681T>G								NM_018040.2	NP_060510.1	Q9NW75	GPTC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)	9	1388	-								Q5VYK7|Q5VYK8|Q86YE7	Splice_Site	SNP	ENST00000366935.3	37		CCDS1518.1	.	.	.	.	.	.	.	.	.	.	T	19.05	3.752236	0.69533	.	.	ENSG00000092978	ENST00000366935	.	.	.	5.33	5.33	0.75918	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6321	0.76920	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	GPATCH2	215689304	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.789000	0.69029	2.155000	0.67459	0.467000	0.42956	.		0.358	GPATCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001272.1	NM_018040	Intron	12	22	0	0	0	1	0	12	22				
OR10V1	390201	broad.mit.edu	37	11	59480513	59480513	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr11:59480513G>A	ENST00000307552.2	-	1	824	c.806C>T	c.(805-807)cCt>cTt	p.P269L	STX3_ENST00000300150.7_5'Flank	NM_001005324.1	NP_001005324.1	Q8NGI7	O10V1_HUMAN	olfactory receptor, family 10, subfamily V, member 1	269						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(3)|liver(1)|lung(10)|skin(1)	16						GCCCATCTCAGGAGAGTAGCT	0.483																																						ENST00000307552.2																			0				endometrium(1)|large_intestine(3)|liver(1)|lung(10)|skin(1)	16						c.(805-807)cCt>cTt		olfactory receptor, family 10, subfamily V, member 1							82.0	85.0	84.0					11																	59480513		2201	4295	6496	SO:0001583	missense	390201				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59480513G>A	AB065807	CCDS31565.1	11q12.1	2012-08-09			ENSG00000172289	ENSG00000172289		"""GPCR / Class A : Olfactory receptors"""	15136	protein-coding gene	gene with protein product							Standard	NM_001005324		Approved		uc001nof.1	Q8NGI7	OTTHUMG00000167406	ENST00000307552.2:c.806C>T	11.37:g.59480513G>A	ENSP00000302199:p.Pro269Leu						p.P269L	NM_001005324.1	NP_001005324.1	Q8NGI7	O10V1_HUMAN			1	824	-			269					Q6IFD9|Q96R50	Missense_Mutation	SNP	ENST00000307552.2	37	c.806C>T	CCDS31565.1	.	.	.	.	.	.	.	.	.	.	G	13.71	2.319137	0.41096	.	.	ENSG00000172289	ENST00000307552	T	0.00207	8.55	4.47	4.47	0.54385	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000072	T	0.00271	0.0008	N	0.25201	0.72	0.41184	D	0.986252	D	0.76494	0.999	D	0.72075	0.976	D	0.94941	0.8091	10	0.25751	T	0.34	.	8.7337	0.34514	0.102:0.0:0.898:0.0	.	269	Q8NGI7	O10V1_HUMAN	L	269	ENSP00000302199:P269L	ENSP00000302199:P269L	P	-	2	0	OR10V1	59237089	0.000000	0.05858	1.000000	0.80357	0.801000	0.45260	0.639000	0.24690	2.507000	0.84556	0.543000	0.68304	CCT		0.483	OR10V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394517.1	NM_001005324		21	59	0	0	0	1	0	21	59				
VLDLR	7436	broad.mit.edu	37	9	2648797	2648797	+	Silent	SNP	T	T	G			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr9:2648797T>G	ENST00000382100.3	+	14	2447	c.2091T>G	c.(2089-2091)ctT>ctG	p.L697L	VLDLR_ENST00000382099.2_Silent_p.L697L	NM_003383.3	NP_003374.3	P98155	VLDLR_HUMAN	very low density lipoprotein receptor	697					cholesterol metabolic process (GO:0008203)|glycoprotein transport (GO:0034436)|lipid transport (GO:0006869)|memory (GO:0007613)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|positive regulation of dendrite development (GO:1900006)|positive regulation of protein kinase activity (GO:0045860)|receptor-mediated endocytosis (GO:0006898)|reelin-mediated signaling pathway (GO:0038026)|signal transduction (GO:0007165)|ventral spinal cord development (GO:0021517)|very-low-density lipoprotein particle clearance (GO:0034447)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|glycoprotein binding (GO:0001948)|glycoprotein transporter activity (GO:0034437)|low-density lipoprotein receptor activity (GO:0005041)|reelin receptor activity (GO:0038025)|very-low-density lipoprotein particle binding (GO:0034189)|very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		ATCATGAACTTGTACAGCCAT	0.448																																						ENST00000382100.2																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(2089-2091)ctT>ctG		very low density lipoprotein receptor							112.0	100.0	104.0					9																	2648797		2203	4300	6503	SO:0001819	synonymous_variant	7436				cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance	coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle	apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity	g.chr9:2648797T>G		CCDS6446.1, CCDS34979.1	9p24	2014-01-24			ENSG00000147852	ENSG00000147852		"""Low density lipoprotein receptors"""	12698	protein-coding gene	gene with protein product		192977				8294473	Standard	XM_006716864		Approved	CARMQ1, CHRMQ1, VLDLRCH	uc003zhk.1	P98155	OTTHUMG00000019447	ENST00000382100.3:c.2091T>G	9.37:g.2648797T>G						VLDLR_ENST00000382099.2_Silent_p.L697L	p.L697L	NM_003383.3	NP_003374.3	P98155	VLDLR_HUMAN		GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)	14	2447	+			697					B2RMZ7|D3DRH6|Q5VVF6	Silent	SNP	ENST00000382100.3	37	c.2091T>G	CCDS6446.1																																																																																				0.448	VLDLR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051519.2	NM_003383		16	36	0	0	0	1	0	16	36				
PPL	5493	broad.mit.edu	37	16	4960878	4960878	+	Silent	SNP	G	G	A			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr16:4960878G>A	ENST00000345988.2	-	2	224	c.135C>T	c.(133-135)atC>atT	p.I45I	PPL_ENST00000590782.2_Silent_p.I45I	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	45					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						CTGTGTCCACGATGTTCTTCT	0.607																																						ENST00000345988.2																			0				breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						c.(133-135)atC>atT		periplakin							158.0	107.0	124.0					16																	4960878		2197	4300	6497	SO:0001819	synonymous_variant	5493				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr16:4960878G>A	AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.135C>T	16.37:g.4960878G>A						PPL_ENST00000590782.2_Silent_p.I45I	p.I45I	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN			2	224	-			45					O60314|O60454|Q14C98	Silent	SNP	ENST00000345988.2	37	c.135C>T	CCDS10526.1																																																																																				0.607	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1	NM_002705		34	31	0	0	0	1	0	34	31				
ABI3BP	25890	broad.mit.edu	37	3	100569533	100569533	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr3:100569533C>T	ENST00000284322.5	-	14	1380	c.1271G>A	c.(1270-1272)aGa>aAa	p.R424K	ABI3BP_ENST00000495063.1_Missense_Mutation_p.R473K|ABI3BP_ENST00000471714.1_Missense_Mutation_p.R473K	NM_015429.3	NP_056244.2	Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	424	Pro-rich.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular space (GO:0005615)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						TTCAAGAGTTCTAGAAGTTTT	0.348																																						ENST00000471714.1																			0				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						c.(1417-1419)aGa>aAa		ABI family, member 3 (NESH) binding protein							133.0	129.0	130.0					3																	100569533		1806	4070	5876	SO:0001583	missense	25890					extracellular space		g.chr3:100569533C>T	AB056106	CCDS46880.1	3q12.2	2013-02-11	2008-09-12		ENSG00000154175	ENSG00000154175		"""Fibronectin type III domain containing"""	17265	protein-coding gene	gene with protein product	"""target of Nesh-SH3"""	606279				11501947	Standard	NM_015429		Approved	NESHBP, DKFZP586L2024, TARSH	uc003dun.3	Q7Z7G0	OTTHUMG00000159094	ENST00000284322.5:c.1271G>A	3.37:g.100569533C>T	ENSP00000284322:p.Arg424Lys					ABI3BP_ENST00000284322.5_Missense_Mutation_p.R424K|ABI3BP_ENST00000495063.1_Missense_Mutation_p.R473K	p.R473K			Q7Z7G0	TARSH_HUMAN			16	1527	-			427			Pro-rich.		B3KSL4|Q6ZW20|Q6ZW22|Q9C082|Q9UFI6	Missense_Mutation	SNP	ENST00000284322.5	37	c.1418G>A	CCDS46880.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.2|22.2	4.264738|4.264738	0.80358|0.80358	.|.	.|.	ENSG00000154175|ENSG00000154175	ENST00000533855|ENST00000471714;ENST00000284322;ENST00000495063	.|T;T;T	.|0.58210	.|0.35;0.35;0.35	5.87|5.87	5.87|5.87	0.94306|0.94306	.|.	.|0.195954	.|0.47093	.|D	.|0.000242	T|T	0.49012|0.49012	0.1532|0.1532	L|L	0.59436|0.59436	1.845|1.845	0.80722|0.80722	D|D	1|1	.|P;P	.|0.49447	.|0.734;0.924	.|B;P	.|0.44518	.|0.421;0.452	T|T	0.39761|0.39761	-0.9598|-0.9598	5|10	.|0.09590	.|T	.|0.72	-28.8063|-28.8063	13.0115|13.0115	0.58733|0.58733	0.0:0.9262:0.0:0.0738|0.0:0.9262:0.0:0.0738	.|.	.|473;424	.|Q5JPC9;Q7Z7G0	.|.;TARSH_HUMAN	K|K	102|473;424;473	.|ENSP00000420524:R473K;ENSP00000284322:R424K;ENSP00000433993:R473K	.|ENSP00000284322:R424K	E|R	-|-	1|2	0|0	ABI3BP|ABI3BP	102052223|102052223	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.180000|1.180000	0.32005|0.32005	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GAA|AGA		0.348	ABI3BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353260.1			4	8	0	0	0	1	0	4	8				
ASB2	51676	broad.mit.edu	37	14	94404096	94404096	+	Silent	SNP	C	C	T			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr14:94404096C>T	ENST00000315988.4	-	7	2063	c.1575G>A	c.(1573-1575)ctG>ctA	p.L525L	ASB2_ENST00000555019.1_Silent_p.L573L|ASB2_ENST00000556337.1_5'Flank|RP11-131H24.4_ENST00000557646.1_5'Flank	NM_016150.4	NP_057234.2	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box containing 2	525					intracellular signal transduction (GO:0035556)|myoblast differentiation (GO:0045445)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)	Cul5-RING ubiquitin ligase complex (GO:0031466)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		TGTGTTCCTTCAGCCGCGAGC	0.612																																						ENST00000555019.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27						c.(1717-1719)ctG>ctA		ankyrin repeat and SOCS box containing 2							114.0	95.0	102.0					14																	94404096		2203	4300	6503	SO:0001819	synonymous_variant	51676				intracellular signal transduction			g.chr14:94404096C>T	AF159164	CCDS9915.1, CCDS55940.1	14q31-q32	2013-01-10	2011-01-25					"""Ankyrin repeat domain containing"""	16012	protein-coding gene	gene with protein product		605759	"""ankyrin repeat and SOCS box-containing 2"""				Standard	NM_016150		Approved	ASB-2	uc001ycd.3	Q96Q27		ENST00000315988.4:c.1575G>A	14.37:g.94404096C>T						ASB2_ENST00000315988.4_Silent_p.L525L	p.L573L	NM_001202429.1	NP_001189358.1	Q96Q27	ASB2_HUMAN		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)	9	2149	-		all_cancers(154;0.13)	525			SOCS box.		B2RDP9|B4E166|Q9NSU5|Q9Y567	Silent	SNP	ENST00000315988.4	37	c.1719G>A	CCDS9915.1																																																																																				0.612	ASB2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412845.1			15	26	0	0	0	1	0	15	26				
OPRL1	4987	broad.mit.edu	37	20	62729452	62729452	+	Silent	SNP	G	G	A			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr20:62729452G>A	ENST00000349451.3	+	5	943	c.531G>A	c.(529-531)ctG>ctA	p.L177L	OPRL1_ENST00000336866.2_Silent_p.L177L|OPRL1_ENST00000355631.4_Silent_p.L177L	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN	opiate receptor-like 1	177					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavior (GO:0007610)|opioid receptor signaling pathway (GO:0038003)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|nociceptin receptor activity (GO:0001626)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					TCTGGGCCCTGGCCTCTGTTG	0.637																																						ENST00000349451.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19						c.(529-531)ctG>ctA		opiate receptor-like 1							91.0	80.0	83.0					20																	62729452		2203	4298	6501	SO:0001819	synonymous_variant	4987				elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	protein binding|X-opioid receptor activity	g.chr20:62729452G>A		CCDS13556.1	20q13.33	2012-08-08			ENSG00000125510	ENSG00000125510		"""GPCR / Class A : Opioid receptors"""	8155	protein-coding gene	gene with protein product	"""LC132 receptor-like"", ""orphanin FQ receptor"", ""kappa3-related opioid receptor"""	602548				8137918	Standard	NM_000913		Approved	NOCIR, ORL1, OOR, KOR-3	uc021wgs.1	P41146	OTTHUMG00000033027	ENST00000349451.3:c.531G>A	20.37:g.62729452G>A						OPRL1_ENST00000355631.4_Silent_p.L177L|OPRL1_ENST00000336866.2_Silent_p.L177L	p.L177L	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN			5	943	+	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)		177					Q8TD34|Q8WYH9|Q9H4K4	Silent	SNP	ENST00000349451.3	37	c.531G>A	CCDS13556.1																																																																																				0.637	OPRL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080295.1	NM_182647		22	53	0	0	0	1	0	22	53				
RPH3A	22895	broad.mit.edu	37	12	113307811	113307811	+	Missense_Mutation	SNP	G	G	C			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr12:113307811G>C	ENST00000389385.4	+	10	1260	c.763G>C	c.(763-765)Ggg>Cgg	p.G255R	RPH3A_ENST00000543106.2_Missense_Mutation_p.G255R|RPH3A_ENST00000549913.2_3'UTR|RPH3A_ENST00000447659.2_Missense_Mutation_p.G206R|RPH3A_ENST00000551052.1_Missense_Mutation_p.G251R|RPH3A_ENST00000548866.1_Missense_Mutation_p.G206R|RPH3A_ENST00000420983.2_Missense_Mutation_p.G255R|RPH3A_ENST00000415485.3_Missense_Mutation_p.G255R	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A	255	Pro-rich.				intracellular protein transport (GO:0006886)	cell junction (GO:0030054)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylinositol phosphate binding (GO:1901981)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		GGACCACAGTGGGGGTGCTGG	0.597																																						ENST00000389385.4																			0				breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47						c.(763-765)Ggg>Cgg		rabphilin 3A homolog (mouse)							33.0	38.0	36.0					12																	113307811		2203	4300	6503	SO:0001583	missense	22895				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding	g.chr12:113307811G>C	AB023202	CCDS31904.1, CCDS44979.1	12q24.13	2014-07-02	2014-07-02		ENSG00000089169	ENSG00000089169		"""Synaptotagmins"""	17056	protein-coding gene	gene with protein product		612159	"""rabphilin 3A homolog (mouse)"""			10231032, 7822236	Standard	NM_014954		Approved	KIAA0985, rabphilin, exophilin-1	uc001ttz.3	Q9Y2J0	OTTHUMG00000169713	ENST00000389385.4:c.763G>C	12.37:g.113307811G>C	ENSP00000374036:p.Gly255Arg					RPH3A_ENST00000447659.2_Missense_Mutation_p.G206R|RPH3A_ENST00000549913.2_3'UTR|RPH3A_ENST00000415485.3_Missense_Mutation_p.G255R|RPH3A_ENST00000551052.1_Missense_Mutation_p.G251R|RPH3A_ENST00000543106.2_Missense_Mutation_p.G255R|RPH3A_ENST00000548866.1_Missense_Mutation_p.G206R|RPH3A_ENST00000420983.2_Missense_Mutation_p.G255R	p.G255R	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.00453)	10	1260	+			255			Pro-rich.		B7Z3C3|Q96AE0	Missense_Mutation	SNP	ENST00000389385.4	37	c.763G>C	CCDS44979.1	.	.	.	.	.	.	.	.	.	.	G	6.449	0.451070	0.12223	.	.	ENSG00000089169	ENST00000543106;ENST00000389385;ENST00000447659;ENST00000551052;ENST00000415485;ENST00000548866;ENST00000420983	T;T;T;T;T;T;T	0.61040	0.14;0.14;0.14;0.14;0.14;0.14;0.14	4.97	3.13	0.36017	.	0.296597	0.27807	N	0.017764	T	0.64832	0.2634	L	0.53249	1.67	0.09310	N	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;0.999;1.0	T	0.54543	-0.8278	10	0.59425	D	0.04	.	3.4232	0.07401	0.1511:0.5258:0.226:0.0971	.	206;255;255;251	F8VP47;B7Z9Z7;Q9Y2J0;Q9Y2J0-2	.;.;RP3A_HUMAN;.	R	255;255;206;251;255;206;255	ENSP00000440384:G255R;ENSP00000374036:G255R;ENSP00000413254:G206R;ENSP00000448297:G251R;ENSP00000405357:G255R;ENSP00000450347:G206R;ENSP00000408889:G255R	ENSP00000374036:G255R	G	+	1	0	RPH3A	111792194	0.038000	0.19896	0.001000	0.08648	0.085000	0.17905	1.527000	0.35975	0.497000	0.27926	-0.137000	0.14449	GGG		0.597	RPH3A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405561.1	NM_014954		6	45	0	0	0	1	0	6	45				
FAM83B	222584	broad.mit.edu	37	6	54805704	54805704	+	Missense_Mutation	SNP	T	T	G			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr6:54805704T>G	ENST00000306858.7	+	5	2051	c.1935T>G	c.(1933-1935)aaT>aaG	p.N645K	RP3-523K23.2_ENST00000562834.1_RNA	NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	645										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TGGGTGTAAATAAGCAGACAG	0.363																																						ENST00000306858.7																			0				autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71						c.(1933-1935)aaT>aaG		family with sequence similarity 83, member B							48.0	50.0	50.0					6																	54805704		2201	4299	6500	SO:0001583	missense	222584							g.chr6:54805704T>G	AK055204	CCDS34479.1	6p12.1	2014-03-13	2006-03-23	2006-03-23	ENSG00000168143	ENSG00000168143			21357	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 143"""	C6orf143		22886302	Standard	NM_001010872		Approved	FLJ30642	uc003pck.4	Q5T0W9	OTTHUMG00000014899	ENST00000306858.7:c.1935T>G	6.37:g.54805704T>G	ENSP00000304078:p.Asn645Lys						p.N645K	NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN			5	2051	+	Lung NSC(77;0.0178)|Renal(3;0.122)		645					Q2M1P3|Q96DQ2	Missense_Mutation	SNP	ENST00000306858.7	37	c.1935T>G	CCDS34479.1	.	.	.	.	.	.	.	.	.	.	T	12.36	1.914526	0.33815	.	.	ENSG00000168143	ENST00000306858	T	0.34275	1.37	5.55	2.9	0.33743	.	0.622881	0.16663	N	0.204716	T	0.15912	0.0383	M	0.67953	2.075	0.39083	D	0.960949	P	0.35433	0.501	B	0.27608	0.081	T	0.04840	-1.0923	10	0.45353	T	0.12	-25.4555	6.2734	0.20966	0.0:0.342:0.0:0.658	.	645	Q5T0W9	FA83B_HUMAN	K	645	ENSP00000304078:N645K	ENSP00000304078:N645K	N	+	3	2	FAM83B	54913663	0.411000	0.25384	0.996000	0.52242	0.944000	0.59088	0.208000	0.17415	1.048000	0.40298	0.533000	0.62120	AAT		0.363	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040994.1	XM_294139		25	15	0	0	0	1	0	25	15				
NCAPD2	9918	broad.mit.edu	37	12	6632086	6632086	+	Missense_Mutation	SNP	T	T	A			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr12:6632086T>A	ENST00000315579.5	+	16	2846	c.2047T>A	c.(2047-2049)Tgg>Agg	p.W683R	NCAPD2_ENST00000545962.1_Missense_Mutation_p.W638R	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	683					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|condensin core heterodimer (GO:0000797)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|pronucleus (GO:0045120)	histone binding (GO:0042393)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						GCCTCTCATCTGGTCTAAGGA	0.552																																						ENST00000315579.5																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						c.(2047-2049)Tgg>Agg		non-SMC condensin I complex, subunit D2							146.0	134.0	138.0					12																	6632086		2203	4300	6503	SO:0001583	missense	9918				cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding	g.chr12:6632086T>A	D63880	CCDS8548.1	12p13.31	2008-02-04			ENSG00000010292	ENSG00000010292			24305	protein-coding gene	gene with protein product	"""chromosome condensation related SMC associated protein 1"""	615638				8590280, 10958694	Standard	NM_014865		Approved	CNAP1, hCAP-D2, CAP-D2, KIAA0159	uc001qoo.2	Q15021	OTTHUMG00000168513	ENST00000315579.5:c.2047T>A	12.37:g.6632086T>A	ENSP00000325017:p.Trp683Arg					NCAPD2_ENST00000545962.1_Missense_Mutation_p.W638R	p.W683R	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN			16	2846	+			683					D3DUR4|Q8N6U3	Missense_Mutation	SNP	ENST00000315579.5	37	c.2047T>A	CCDS8548.1	.	.	.	.	.	.	.	.	.	.	T	28.0	4.878149	0.91664	.	.	ENSG00000010292	ENST00000315579;ENST00000382457;ENST00000545962;ENST00000535602	T;T;T	0.67698	-0.28;-0.28;-0.28	5.93	5.93	0.95920	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.82990	0.5157	M	0.83118	2.625	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.995;0.992;0.99	D	0.84286	0.0497	10	0.49607	T	0.09	-13.1301	16.3829	0.83481	0.0:0.0:0.0:1.0	.	638;644;683	F5GZJ1;B3KY03;Q15021	.;.;CND1_HUMAN	R	683;555;638;555	ENSP00000325017:W683R;ENSP00000371895:W555R;ENSP00000444417:W638R	ENSP00000325017:W683R	W	+	1	0	NCAPD2	6502347	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.698000	0.84413	2.271000	0.75665	0.459000	0.35465	TGG		0.552	NCAPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399964.1	NM_014865		41	64	0	0	0	1	0	41	64				
NPVF	64111	broad.mit.edu	37	7	25266413	25266413	+	Missense_Mutation	SNP	A	A	C			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr7:25266413A>C	ENST00000222674.2	-	2	417	c.371T>G	c.(370-372)gTt>gGt	p.V124G		NM_022150.3	NP_071433	Q9HCQ7	NPVF_HUMAN	neuropeptide VF precursor	124					negative regulation of gonadotropin secretion (GO:0032277)|neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						CAGGTTAGGAACACGTCTCAC	0.493																																						ENST00000222674.2																			0				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						c.(370-372)gTt>gGt		neuropeptide VF precursor							218.0	205.0	209.0					7																	25266413		2203	4300	6503	SO:0001583	missense	64111				neuropeptide signaling pathway	extracellular region|membrane	G-protein coupled receptor activity	g.chr7:25266413A>C	AB040290	CCDS5395.1	7p21-p15	2013-02-28	2006-10-06	2006-10-06	ENSG00000105954	ENSG00000105954		"""Endogenous ligands"""	13782	protein-coding gene	gene with protein product	"""RFamide-related peptide precursor"", ""FMRFamide-related peptide precursor"""		"""chromosome 7 open reading frame 9"""	C7orf9		11951088, 11173868	Standard	NM_022150		Approved	RFRP	uc003sxo.3	Q9HCQ7	OTTHUMG00000128509	ENST00000222674.2:c.371T>G	7.37:g.25266413A>C	ENSP00000222674:p.Val124Gly						p.V124G	NM_022150.3	NP_071433.3	Q9HCQ7	RFRP_HUMAN			2	417	-			124					A4D164|Q7LE27|Q96PI9	Missense_Mutation	SNP	ENST00000222674.2	37	c.371T>G	CCDS5395.1	.	.	.	.	.	.	.	.	.	.	A	7.204	0.594137	0.13875	.	.	ENSG00000105954	ENST00000222674	T	0.24908	1.83	5.67	4.5	0.54988	.	1.018180	0.07845	N	0.963621	T	0.29256	0.0728	L	0.59436	1.845	0.09310	N	0.999998	P	0.37276	0.589	B	0.39258	0.295	T	0.32719	-0.9896	10	0.87932	D	0	0.0128	5.9755	0.19377	0.7706:0.0:0.0821:0.1472	.	124	Q9HCQ7	RFRP_HUMAN	G	124	ENSP00000222674:V124G	ENSP00000222674:V124G	V	-	2	0	NPVF	25232938	0.043000	0.20138	0.097000	0.21041	0.014000	0.08584	1.372000	0.34261	1.058000	0.40530	0.533000	0.62120	GTT		0.493	NPVF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250315.1	NM_022150		39	67	0	0	0	1	0	39	67				
OTOGL	283310	broad.mit.edu	37	12	80770945	80770945	+	Missense_Mutation	SNP	C	C	T	rs568423929		TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr12:80770945C>T	ENST00000547103.1	+	57	6767	c.6761C>T	c.(6760-6762)tCg>tTg	p.S2254L	OTOGL_ENST00000546620.1_Missense_Mutation_p.S285L|OTOGL_ENST00000458043.2_Missense_Mutation_p.S2266L			Q3ZCN5	OTOGL_HUMAN	otogelin-like	2254	CTCK. {ECO:0000255|PROSITE- ProRule:PRU00039}.				L-arabinose metabolic process (GO:0046373)	extracellular region (GO:0005576)	alpha-L-arabinofuranosidase activity (GO:0046556)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						ATCATTAAATCGGTCATAAGG	0.323													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16986	0.0		0.0	False		,,,				2504	0.0					ENST00000458043.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						c.(6796-6798)tCg>tTg		otogelin-like							85.0	85.0	85.0					12																	80770945		2203	4300	6503	SO:0001583	missense	283310							g.chr12:80770945C>T	AK096852		12q21.31	2011-02-11	2011-02-11	2011-02-11	ENSG00000165899	ENSG00000165899			26901	protein-coding gene	gene with protein product		614925	"""chromosome 12 open reading frame 64"""	C12orf64			Standard	NM_173591		Approved	FLJ90579	uc001szd.3	Q3ZCN5	OTTHUMG00000150509	ENST00000547103.1:c.6761C>T	12.37:g.80770945C>T	ENSP00000447211:p.Ser2254Leu					OTOGL_ENST00000547103.1_Missense_Mutation_p.S2254L|OTOGL_ENST00000546620.1_Missense_Mutation_p.S285L	p.S2266L	NM_173591.3	NP_775862.3					57	6803	+								F8W0C3|Q495U8|Q8N8G5|Q8NC28	Missense_Mutation	SNP	ENST00000547103.1	37	c.6797C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.96|16.96	3.265529|3.265529	0.59431|0.59431	.|.	.|.	ENSG00000165899|ENSG00000165899	ENST00000298820|ENST00000547103;ENST00000458043;ENST00000546620	.|T;T;T	.|0.18174	.|2.35;2.35;2.23	5.32|5.32	5.32|5.32	0.75619|0.75619	.|Cystine knot, C-terminal (2);	.|0.216252	.|0.35040	.|N	.|0.003495	T|T	0.09905|0.09905	0.0243|0.0243	N|N	0.12887|0.12887	0.27|0.27	0.31200|0.31200	N|N	0.699881|0.699881	.|P	.|0.44139	.|0.827	.|B	.|0.30855	.|0.121	T|T	0.02991|0.02991	-1.1085|-1.1085	5|10	.|0.45353	.|T	.|0.12	.|.	19.3578|19.3578	0.94422|0.94422	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|631	.|Q3ZCN5	.|OTOGL_HUMAN	W|L	674|2254;2266;285	.|ENSP00000447211:S2254L;ENSP00000400895:S2266L;ENSP00000449094:S285L	.|ENSP00000400895:S2266L	R|S	+|+	1|2	2|0	OTOGL|OTOGL	79295076|79295076	0.995000|0.995000	0.38212|0.38212	0.893000|0.893000	0.35052|0.35052	0.842000|0.842000	0.47809|0.47809	3.252000|3.252000	0.51461|0.51461	2.647000|2.647000	0.89833|0.89833	0.467000|0.467000	0.42956|0.42956	CGG|TCG		0.323	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000407438.1	NM_173591		5	7	0	0	0	1	0	5	7				
ADCK2	90956	broad.mit.edu	37	7	140373544	140373544	+	Silent	SNP	C	C	A	rs148381137		TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr7:140373544C>A	ENST00000072869.4	+	1	592	c.414C>A	c.(412-414)acC>acA	p.T138T	ADCK2_ENST00000476491.1_Silent_p.T138T	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	138						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					TGAAAGCCACCGAGACCTCAG	0.587																																						ENST00000072869.4																			0				cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15						c.(412-414)acC>acA		aarF domain containing kinase 2							85.0	96.0	92.0					7																	140373544		2203	4300	6503	SO:0001819	synonymous_variant	90956					integral to membrane	ATP binding|protein serine/threonine kinase activity	g.chr7:140373544C>A	AF131745	CCDS5861.1	7q34	2003-07-21			ENSG00000133597	ENSG00000133597			19039	protein-coding gene	gene with protein product							Standard	NM_052853		Approved	MGC20727	uc003vvy.1	Q7Z695	OTTHUMG00000157409	ENST00000072869.4:c.414C>A	7.37:g.140373544C>A						ADCK2_ENST00000476491.1_Silent_p.T138T	p.T138T	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN			1	592	+	Melanoma(164;0.00956)		138					Q96CN6|Q9Y6T5	Silent	SNP	ENST00000072869.4	37	c.414C>A	CCDS5861.1																																																																																				0.587	ADCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348734.1	NM_052853		56	43	1	0	4.17463e-26	1	4.82572e-26	56	43				
TMCO3	55002	broad.mit.edu	37	13	114149816	114149816	+	Splice_Site	SNP	G	G	T			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr13:114149816G>T	ENST00000434316.2	+	2	279		c.e2-1		TMCO3_ENST00000474393.1_Splice_Site|TMCO3_ENST00000375391.1_Splice_Site	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3							integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)			NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			CTCTTTTTCAGCTGAAAATGT	0.423																																						ENST00000434316.2																			0				NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25						c.e2-1		transmembrane and coiled-coil domains 3																																				SO:0001630	splice_region_variant	55002					integral to membrane	solute:hydrogen antiporter activity	g.chr13:114149816G>T	BC012564	CCDS9537.1	13q34	2008-02-05	2005-07-22	2005-07-22	ENSG00000150403	ENSG00000150403			20329	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 11"""	C13orf11			Standard	NM_017905		Approved	FLJ20623	uc001vtu.4	Q6UWJ1	OTTHUMG00000017389	ENST00000434316.2:c.-80-1G>T	13.37:g.114149816G>T						TMCO3_ENST00000474393.1_Splice_Site|TMCO3_ENST00000375391.1_Splice_Site		NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	all cancers(43;0.0317)		2	279	+	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)						Q5JSB1|Q6NUN1|Q8NG29|Q8TCI6|Q96EA6|Q9NWT2	Splice_Site	SNP	ENST00000434316.2	37		CCDS9537.1																																																																																				0.423	TMCO3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045931.3	NM_017905	Intron	13	28	1	0	2.61681e-11	1	2.86712e-11	13	28				
HYI	81888	broad.mit.edu	37	1	43917341	43917342	+	Frame_Shift_Ins	INS	-	-	A			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr1:43917341_43917342insA	ENST00000372425.4	-	6	797_798	c.602_603insT	c.(601-603)atcfs	p.I201fs	HYI_ENST00000583037.1_Frame_Shift_Ins_p.I128fs|HYI_ENST00000372432.1_Frame_Shift_Ins_p.I201fs|HYI-AS1_ENST00000444386.1_RNA|HYI_ENST00000372434.1_Frame_Shift_Ins_p.I226fs|SZT2_ENST00000372442.1_3'UTR|SZT2_ENST00000562955.1_3'UTR|HYI_ENST00000372426.1_Frame_Shift_Ins_p.I153fs|HYI_ENST00000486909.1_Frame_Shift_Ins_p.I201fs			Q5T013	HYI_HUMAN	hydroxypyruvate isomerase (putative)	201							hydroxypyruvate isomerase activity (GO:0008903)			large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2)	6	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GGAACTCCCGGATGTTTCCTGT	0.584																																						ENST00000372425.4																			0				large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2)	6						c.(601-603)acgfs		hydroxypyruvate isomerase (putative)																																				SO:0001589	frameshift_variant	81888						hydroxypyruvate isomerase activity	g.chr1:43917341_43917342insA		CCDS488.1, CCDS488.2, CCDS53309.1, CCDS72771.1	1p34.2	2010-06-24	2010-06-24		ENSG00000178922	ENSG00000178922	5.3.1.22		26948	protein-coding gene	gene with protein product			"""hydroxypyruvate isomerase homolog (E. coli)"""			10561547	Standard	NM_031207		Approved	HT036	uc001cjo.3	Q5T013	OTTHUMG00000007502	ENST00000372425.4:c.603dupT	1.37:g.43917342_43917342dupA	ENSP00000361502:p.Ile201fs					HYI_ENST00000372434.1_Frame_Shift_Ins_p.T226fs|SZT2_ENST00000562955.1_3'UTR|HYI_ENST00000372432.1_Frame_Shift_Ins_p.T201fs|HYI_ENST00000486909.1_Frame_Shift_Ins_p.T201fs|SZT2_ENST00000372442.1_3'UTR|HYI_ENST00000583037.1_Frame_Shift_Ins_p.T128fs|HYI_ENST00000372426.1_Frame_Shift_Ins_p.T153fs	p.T201fs			Q5T013	HYI_HUMAN			6	797_798	-	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	201					D3DPX4|D3DPX5|Q5Q9A2|Q7Z778|Q96S83|Q9BZR3|Q9BZR4	Frame_Shift_Ins	INS	ENST00000372425.4	37	c.602_603insT	CCDS53309.1																																																																																				0.584	HYI-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_031207		30	31						30	31	---	---	---	---
RAI14	26064	broad.mit.edu	37	5	34823335	34823335	+	Frame_Shift_Del	DEL	G	G	-			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr5:34823335delG	ENST00000265109.3	+	15	1675	c.1388delG	c.(1387-1389)aggfs	p.R463fs	RAI14_ENST00000428746.2_Frame_Shift_Del_p.R463fs|RAI14_ENST00000512629.1_Frame_Shift_Del_p.R434fs|RAI14_ENST00000506376.1_Frame_Shift_Del_p.R455fs|RAI14_ENST00000397449.1_Frame_Shift_Del_p.R456fs|RAI14_ENST00000503673.1_Frame_Shift_Del_p.R463fs|RAI14_ENST00000515799.1_Frame_Shift_Del_p.R466fs	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	463						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					CAATCCCGAAGGGCAGAACTG	0.438																																						ENST00000265109.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(1387-1389)agfs		retinoic acid induced 14							71.0	79.0	77.0					5																	34823335		2203	4300	6503	SO:0001589	frameshift_variant	26064					cell cortex|cytoskeleton	protein binding	g.chr5:34823335delG	AB037755	CCDS34142.1, CCDS54837.1, CCDS54838.1, CCDS54839.1	5p13.3-p13.2	2013-01-10			ENSG00000039560	ENSG00000039560		"""Ankyrin repeat domain containing"""	14873	protein-coding gene	gene with protein product	"""novel retinal pigment epithelial"""	606586				11042181	Standard	NM_015577		Approved	NORPEG, KIAA1334, RAI13, DKFZp564G013	uc011coj.2	Q9P0K7	OTTHUMG00000162019	ENST00000265109.3:c.1388delG	5.37:g.34823335delG	ENSP00000265109:p.Arg463fs					RAI14_ENST00000515799.1_Frame_Shift_Del_p.R466fs|RAI14_ENST00000397449.1_Frame_Shift_Del_p.R456fs|RAI14_ENST00000506376.1_Frame_Shift_Del_p.R455fs|RAI14_ENST00000512629.1_Frame_Shift_Del_p.R434fs|RAI14_ENST00000503673.1_Frame_Shift_Del_p.R463fs|RAI14_ENST00000428746.2_Frame_Shift_Del_p.R463fs	p.R463fs	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN			15	1675	+	all_lung(31;0.000191)		463					E9PED3|Q6V1W9|Q7Z5I4|Q7Z733|Q9P2L2|Q9Y3T5	Frame_Shift_Del	DEL	ENST00000265109.3	37	c.1388delG	CCDS34142.1																																																																																				0.438	RAI14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366786.1	NM_015577		14	50						14	50	---	---	---	---
PRDM1	639	broad.mit.edu	37	6	106553236	106553236	+	Frame_Shift_Del	DEL	G	G	-			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr6:106553236delG	ENST00000369096.4	+	5	1435	c.1201delG	c.(1201-1203)gctfs	p.A401fs	PRDM1_ENST00000369091.2_Frame_Shift_Del_p.A365fs|PRDM1_ENST00000369089.3_Frame_Shift_Del_p.A267fs	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	401					cell fate commitment (GO:0045165)|eye photoreceptor cell development (GO:0042462)|germ cell development (GO:0007281)|intestinal epithelial cell development (GO:0060576)|maternal placenta development (GO:0001893)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of gene expression (GO:0010628)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|trophoblast giant cell differentiation (GO:0060707)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		CCTCCCGCCAGCTTTCATCCC	0.592			"""D, N, Mis, F, S"""		DLBCL																																	ENST00000369096.4				Rec	yes		6	6q21	639	"""D, N, Mis, F, S"""	"""PR domain containing 1, with ZNF domain"""			L			DLBCL		0				NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94						c.(1201-1203)ctfs		PR domain containing 1, with ZNF domain							82.0	63.0	69.0					6																	106553236		2203	4300	6503	SO:0001589	frameshift_variant	639				negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:106553236delG		CCDS5054.2, CCDS34505.1	6q21	2013-01-08			ENSG00000057657	ENSG00000057657		"""Zinc fingers, C2H2-type"""	9346	protein-coding gene	gene with protein product		603423		BLIMP1		1851123	Standard	NM_001198		Approved	PRDI-BF1	uc003prd.2	O75626	OTTHUMG00000015299	ENST00000369096.4:c.1201delG	6.37:g.106553236delG	ENSP00000358092:p.Ala401fs					PRDM1_ENST00000369089.3_Frame_Shift_Del_p.A267fs|PRDM1_ENST00000369091.2_Frame_Shift_Del_p.A365fs	p.A401fs	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)	5	1435	+	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)	401					B2REA6|E1P5E0|Q86WM7	Frame_Shift_Del	DEL	ENST00000369096.4	37	c.1201delG	CCDS5054.2																																																																																				0.592	PRDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041661.3			26	67						26	67	---	---	---	---
KRTAP5-2	440021	broad.mit.edu	37	11	1619173	1619202	+	In_Frame_Del	DEL	CCCCCACAGGAGCCACAGCCCCCCTTGGAG	CCCCCACAGGAGCCACAGCCCCCCTTGGAG	-	rs61869706|rs199811378|rs36134435|rs61869704|rs59506446	byFrequency	TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr11:1619173_1619202delCCCCCACAGGAGCCACAGCCCCCCTTGGAG	ENST00000412090.1	-	1	322_351	c.279_308delCTCCAAGGGGGGCTGTGGCTCCTGTGGGGG	c.(277-309)ggctccaaggggggctgtggctcctgtgggggt>ggt	p.93_103GSKGGCGSCGG>G	KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA	NM_001004325.1	NP_001004325.1	Q701N4	KRA52_HUMAN	keratin associated protein 5-2	93	6 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				large_intestine(1)|lung(2)|skin(1)	4		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCCCTTGGAACCCCCACAGGAGCCACAGCCCCCCTTGGAGCCCCCACAGG	0.657																																						ENST00000412090.1																			0				large_intestine(1)|lung(2)|skin(1)	4						c.(277-309)ggt>gg		keratin associated protein 5-2																																				SO:0001651	inframe_deletion	440021					keratin filament		g.chr11:1619173_1619202delCCCCCACAGGAGCCACAGCCCCCCTTGGAG	AB126071	CCDS31331.1	11p15.5	2008-02-05				ENSG00000205867		"""Keratin associated proteins"""	23597	protein-coding gene	gene with protein product						15144888	Standard	NM_001004325		Approved	KRTAP5.2, KRTAP5-8	uc001ltv.3	Q701N4		ENST00000412090.1:c.279_308delCTCCAAGGGGGGCTGTGGCTCCTGTGGGGG	11.37:g.1619173_1619202delCCCCCACAGGAGCCACAGCCCCCCTTGGAG	ENSP00000400041:p.Gly103_Gly112del					KRTAP5-AS1_ENST00000424148.1_RNA	p.GSKGGCGSCGG93del	NM_001004325.1	NP_001004325.1	Q701N4	KRA52_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	322_351	-		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	93			6 X 4 AA repeats of C-C-X-P.		A9JTZ1	In_Frame_Del	DEL	ENST00000412090.1	37	c.279_308delCTCCAAGGGGGGCTGTGGCTCCTGTGGGGG	CCDS31331.1																																																																																				0.657	KRTAP5-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384775.1	NM_001004325		41	274						41	274	---	---	---	---
SHMT2	6472	broad.mit.edu	37	12	57626532	57626533	+	Frame_Shift_Ins	INS	-	-	T			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr12:57626532_57626533insT	ENST00000328923.3	+	7	1215_1216	c.763_764insT	c.(763-765)atcfs	p.I255fs	SHMT2_ENST00000449049.3_Frame_Shift_Ins_p.I234fs|SHMT2_ENST00000553474.1_Frame_Shift_Ins_p.I234fs|SHMT2_ENST00000393827.4_Frame_Shift_Ins_p.I159fs|SHMT2_ENST00000414700.3_Frame_Shift_Ins_p.I234fs|SHMT2_ENST00000557487.1_Frame_Shift_Ins_p.I245fs	NM_001166356.1|NM_005412.5	NP_001159828.1|NP_005403.2	P34897	GLYM_HUMAN	serine hydroxymethyltransferase 2 (mitochondrial)	255					glycine biosynthetic process from serine (GO:0019264)|L-serine biosynthetic process (GO:0006564)|one-carbon metabolic process (GO:0006730)|positive regulation of cell proliferation (GO:0008284)|protein homotetramerization (GO:0051289)|tetrahydrofolate interconversion (GO:0035999)	extracellular vesicular exosome (GO:0070062)|microtubule cytoskeleton (GO:0015630)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|chromatin binding (GO:0003682)|glycine hydroxymethyltransferase activity (GO:0004372)|L-allo-threonine aldolase activity (GO:0008732)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15					Glycine(DB00145)|Tetrahydrofolic acid(DB00116)	CATGGCCCACATCAGTGGCCTG	0.624																																					Esophageal Squamous(150;1369 2416 49071 49364)	ENST00000328923.3																			0				breast(1)|central_nervous_system(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15						c.(763-765)cagfs		serine hydroxymethyltransferase 2 (mitochondrial)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)																																			SO:0001589	frameshift_variant	6472					microtubule cytoskeleton|mitochondrial nucleoid	glycine hydroxymethyltransferase activity|methyltransferase activity	g.chr12:57626532_57626533insT	AK223555	CCDS8934.1, CCDS53805.1, CCDS55837.1	12q12-q14	2006-03-27				ENSG00000182199	2.1.2.1		10852	protein-coding gene	gene with protein product		138450		SHMT		8999870	Standard	NM_005412		Approved		uc001snf.2	P34897		ENST00000328923.3:c.764dupT	12.37:g.57626533_57626533dupT	ENSP00000333667:p.Ile255fs					SHMT2_ENST00000414700.3_Frame_Shift_Ins_p.Q234fs|SHMT2_ENST00000393827.4_Frame_Shift_Ins_p.Q159fs|SHMT2_ENST00000449049.3_Frame_Shift_Ins_p.Q234fs|SHMT2_ENST00000557487.1_Frame_Shift_Ins_p.Q245fs|SHMT2_ENST00000553474.1_Frame_Shift_Ins_p.Q234fs	p.Q255fs	NM_001166356.1|NM_005412.5	NP_001159828.1|NP_005403.2	P34897	GLYM_HUMAN			7	1215_1216	+			255					B7Z9F1|E7EQ19|E7EU43|O00740|Q8N1A5	Frame_Shift_Ins	INS	ENST00000328923.3	37	c.763_764insT	CCDS8934.1																																																																																				0.624	SHMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412525.2	NM_005412		20	23						20	23	---	---	---	---
MBTPS1	8720	broad.mit.edu	37	16	84121067	84121068	+	Splice_Site	INS	-	-	A			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr16:84121067_84121068insA	ENST00000343411.3	-	9	1527		c.e9-2		MBTPS1_ENST00000569770.1_Splice_Site	NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|lipid metabolic process (GO:0006629)|lysosome organization (GO:0007040)|proteolysis (GO:0006508)|regulation of transcription factor import into nucleus (GO:0042990)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TTCAGAGTGCTATATTGAGACC	0.361																																						ENST00000343411.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.e9-2		membrane-bound transcription factor peptidase, site 1																																				SO:0001630	splice_region_variant	8720				cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity	g.chr16:84121067_84121068insA	D42053	CCDS10941.1	16q24	2008-08-04	2005-08-17		ENSG00000140943	ENSG00000140943			15456	protein-coding gene	gene with protein product		603355	"""membrane-bound transcription factor protease, site 1"""			9809072, 10944850	Standard	NM_003791		Approved	S1P, KIAA0091, SKI-1, PCSK8	uc002fhi.3	Q14703	OTTHUMG00000137639	ENST00000343411.3:c.1032-2->T	16.37:g.84121068_84121068dupA						MBTPS1_ENST00000569770.1_Splice_Site		NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN			9	1527	-								A8K6V8|Q24JQ2|Q9UF67	Splice_Site	INS	ENST00000343411.3	37		CCDS10941.1																																																																																				0.361	MBTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269080.2	NM_003791	Intron	8	22						8	22	---	---	---	---
KRTAP4-1	85285	broad.mit.edu	37	17	39340796	39340852	+	In_Frame_Del	DEL	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	-	rs483929|rs543483191|rs79048996|rs1985673|rs2320229|rs483893|rs572749|rs543006020|rs71155126|rs554407371|rs2320230	byFrequency	TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr17:39340796_39340852delCGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	ENST00000398472.1	-	1	742_798	c.255_311delCCCACTCTGCTGTCAGACCACCTGCCACCCCAGCTGTGGTATGTCCAGCTGCTGCCG	c.(253-312)cgcccactctgctgtcagaccacctgccaccccagctgtggtatgtccagctgctgccgt>cgt	p.85_104RPLCCQTTCHPSCGMSSCCR>R				Q9BYQ7	KRA41_HUMAN	keratin associated protein 4-1	85	18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL].		Missing (in allele KAP4.10). {ECO:0000269|PubMed:15955084}.			keratin filament (GO:0045095)		p.H90_C108delHPSCGMSSCCRPLCCQTTC(2)|p.H94_C112delHPSCGMSSCCRPLCCQTTC(2)		kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			ACAGAGTGGACGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGGCGGCAGCAGC	0.646																																						ENST00000398472.1																			4	Deletion - In frame(4)	p.H90_C108delHPSCGMSSCCRPLCCQTTC(2)|p.H94_C112delHPSCGMSSCCRPLCCQTTC(2)	upper_aerodigestive_tract(2)|prostate(2)	kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5						c.(253-312)cgt>cg		keratin associated protein 4-1																																				SO:0001651	inframe_deletion	85285					keratin filament		g.chr17:39340796_39340852delCGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	AC006070		17q21.2	2013-06-25			ENSG00000198443	ENSG00000198443		"""Keratin associated proteins"""	18907	protein-coding gene	gene with protein product			"""keratin associated protein 4-10"""	KRTAP4-10		11279113	Standard	NM_033060		Approved	KAP4.1, KAP4.10	uc002hwe.4	Q9BYQ7	OTTHUMG00000132081	ENST00000398472.1:c.255_311delCCCACTCTGCTGTCAGACCACCTGCCACCCCAGCTGTGGTATGTCCAGCTGCTGCCG	17.37:g.39340796_39340852delCGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	ENSP00000381489:p.Arg85_Cys103del						p.RPLCCQTTCHPSCGMSSCCR85del			Q9BYQ7	KRA41_HUMAN	STAD - Stomach adenocarcinoma(17;0.000449)		1	742_798	-		Breast(137;0.000496)	85		Missing (in allele KAP4.10).	18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL].		A8MWS7|Q3SYF2	In_Frame_Del	DEL	ENST00000398472.1	37	c.255_311delCCCACTCTGCTGTCAGACCACCTGCCACCCCAGCTGTGGTATGTCCAGCTGCTGCCG																																																																																					0.646	KRTAP4-1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255108.1	NM_033060		104	47						104	47	---	---	---	---
APOH	350	broad.mit.edu	37	17	64224284	64224285	+	Frame_Shift_Ins	INS	-	-	A	rs566373863		TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr17:64224284_64224285insA	ENST00000205948.6	-	2	131_132	c.94_95insT	c.(94-96)tccfs	p.S32fs		NM_000042.2	NP_000033.2	P02749	APOH_HUMAN	apolipoprotein H (beta-2-glycoprotein I)	32	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation, intrinsic pathway (GO:0007597)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood coagulation (GO:0030195)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of myeloid cell apoptotic process (GO:0033033)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|plasminogen activation (GO:0031639)|positive regulation of blood coagulation (GO:0030194)|positive regulation of lipoprotein lipase activity (GO:0051006)|regulation of fibrinolysis (GO:0051917)|triglyceride metabolic process (GO:0006641)|triglyceride transport (GO:0034197)	cell surface (GO:0009986)|chylomicron (GO:0042627)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|phospholipid binding (GO:0005543)	p.S32F(1)		central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(6;9.74e-08)			GACCACTGTGGAAAATGGTAAA	0.441																																					Melanoma(155;624 1882 16869 48804 51309)	ENST00000205948.6																			1	Substitution - Missense(1)	p.S32F(1)	skin(1)	central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						c.(94-96)cacfs		apolipoprotein H (beta-2-glycoprotein I)																																				SO:0001589	frameshift_variant	350				blood coagulation, intrinsic pathway|negative regulation of angiogenesis|negative regulation of blood coagulation|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of myeloid cell apoptosis|negative regulation of smooth muscle cell apoptosis|plasminogen activation|positive regulation of lipoprotein lipase activity|triglyceride metabolic process|triglyceride transport	cell surface|chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	eukaryotic cell surface binding|glycoprotein binding|heparin binding|lipoprotein lipase activator activity|phospholipid binding	g.chr17:64224284_64224285insA		CCDS11663.1	17q24.2	2013-01-24				ENSG00000091583		"""Apolipoproteins"""	616	protein-coding gene	gene with protein product	"""beta-2-glycoprotein I"""	138700		B2G1		1582254	Standard	NM_000042		Approved	BG	uc002jfn.4	P02749		ENST00000205948.6:c.95dupT	17.37:g.64224288_64224288dupA	ENSP00000205948:p.Ser32fs						p.H32fs	NM_000042.2	NP_000033.2	P02749	APOH_HUMAN	BRCA - Breast invasive adenocarcinoma(6;9.74e-08)		2	131_132	-			32			Sushi 1.		B2R9M3|Q9UCN7	Frame_Shift_Ins	INS	ENST00000205948.6	37	c.94_95insT	CCDS11663.1																																																																																				0.441	APOH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446926.1	NM_000042		48	38						48	38	---	---	---	---
DAZAP1	26528	broad.mit.edu	37	19	1434842	1434843	+	Frame_Shift_Ins	INS	-	-	T	rs61735591	byFrequency	TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr19:1434842_1434843insT	ENST00000233078.4	+	12	1316_1317	c.1155_1156insT	c.(1156-1158)gccfs	p.A386fs	DAZAP1_ENST00000336761.6_3'UTR	NM_018959.2	NP_061832.2	Q96EP5	DAZP1_HUMAN	DAZ associated protein 1	386					cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|maternal placenta development (GO:0001893)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ggggcccccccgccggcggcAG	0.713																																						ENST00000233078.4																			0				breast(2)|endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	9						c.(1153-1158)ccccggfs		DAZ associated protein 1			,	43,4127		4,35,2046					,	-1.8	1.0		dbSNP_126	13	291,7775		14,263,3756	no	utr-3,frameshift	DAZAP1	NM_170711.1,NM_018959.2	,	18,298,5802	A1A1,A1R,RR		3.6077,1.0312,2.7297	,	,		334,11902				SO:0001589	frameshift_variant	26528				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr19:1434842_1434843insT		CCDS12065.1, CCDS12066.1	19p13.3	2013-07-16			ENSG00000071626	ENSG00000071626		"""RNA binding motif (RRM) containing"""	2683	protein-coding gene	gene with protein product	"""deleted in azoospermia associated protein 1"""	607430				10857750, 23658607	Standard	XM_005259530		Approved	MGC19907	uc002lsn.3	Q96EP5		Exception_encountered	19.37:g.1434842_1434843insT	ENSP00000233078:p.Ala386fs					DAZAP1_ENST00000336761.6_3'UTR	p.R386fs	NM_018959.2	NP_061832.2	Q96EP5	DAZP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	12	1316_1317	+		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	386					Q96MJ3|Q9NRR9	Frame_Shift_Ins	INS	ENST00000233078.4	37	c.1155_1156insT	CCDS12065.1																																																																																				0.713	DAZAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449522.3	NM_170711		8	36						8	36	---	---	---	---
RUNX1	861	broad.mit.edu	37	21	36259279	36259279	+	Frame_Shift_Del	DEL	A	A	-			TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr21:36259279delA	ENST00000344691.4	-	1	1708	c.131delT	c.(130-132)ctgfs	p.L44fs	RUNX1_ENST00000437180.1_Frame_Shift_Del_p.L71fs|RUNX1_ENST00000399240.1_Frame_Shift_Del_p.L44fs|RUNX1_ENST00000486278.2_Frame_Shift_Del_p.L47fs|RUNX1_ENST00000300305.3_Frame_Shift_Del_p.L71fs|RUNX1_ENST00000325074.5_Frame_Shift_Del_p.L59fs|RUNX1_ENST00000358356.5_Frame_Shift_Del_p.L44fs	NM_001001890.2	NP_001001890.1	Q01196	RUNX1_HUMAN	runt-related transcription factor 1	44					behavioral response to pain (GO:0048266)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system development (GO:0007417)|definitive hemopoiesis (GO:0060216)|embryonic hemopoiesis (GO:0035162)|hair follicle morphogenesis (GO:0031069)|hematopoietic stem cell proliferation (GO:0071425)|hemopoiesis (GO:0030097)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|myeloid cell differentiation (GO:0030099)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of granulocyte differentiation (GO:0030853)|peripheral nervous system neuron development (GO:0048935)|positive regulation of angiogenesis (GO:0045766)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of progesterone secretion (GO:2000872)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hair follicle cell proliferation (GO:0071336)|regulation of signal transduction (GO:0009966)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.A66fs*62(1)		breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	452						GCCGCTCCTCAGCTTGCCGGC	0.736			T	"""RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4"""	"""AML, preB- ALL, T-ALL"""																																	ENST00000344691.4				Dom	yes		21	21q22.3	861	T	runt-related transcription factor 1  (AML1)			L	"""RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4"""		"""AML, preB- ALL, T-ALL"""		1	Deletion - Frameshift(1)	p.A66fs*62(1)	haematopoietic_and_lymphoid_tissue(1)	breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	452						c.(130-132)cgfs		runt-related transcription factor 1							20.0	21.0	21.0					21																	36259279		2200	4298	6498	SO:0001589	frameshift_variant	861				myeloid cell differentiation|negative regulation of granulocyte differentiation|positive regulation of angiogenesis|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|calcium ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr21:36259279delA	X79549	CCDS13639.1, CCDS42922.1, CCDS46646.1	21q22.3	2014-09-17	2008-07-29		ENSG00000159216	ENSG00000159216			10471	protein-coding gene	gene with protein product	"""aml1 oncogene"""	151385	"""acute myeloid leukemia 1"""	AML1, CBFA2		1427868, 7835892	Standard	NM_001001890		Approved	PEBP2A2, AMLCR1	uc010gmv.3	Q01196	OTTHUMG00000086299	ENST00000344691.4:c.131delT	21.37:g.36259279delA	ENSP00000340690:p.Leu44fs					RUNX1_ENST00000399240.1_Frame_Shift_Del_p.L44fs|RUNX1_ENST00000300305.3_Frame_Shift_Del_p.L71fs|RUNX1_ENST00000437180.1_Frame_Shift_Del_p.L71fs|RUNX1_ENST00000325074.5_Frame_Shift_Del_p.L59fs|RUNX1_ENST00000358356.5_Frame_Shift_Del_p.L44fs|RUNX1_ENST00000486278.2_Frame_Shift_Del_p.L47fs	p.L44fs	NM_001001890.2	NP_001001890.1	Q01196	RUNX1_HUMAN			1	1708	-			44					A8MV94|B2RMS4|D3DSG1|O60472|O60473|O76047|O76089|Q13081|Q13755|Q13756|Q13757|Q13758|Q13759|Q15341|Q15343|Q16122|Q16284|Q16285|Q16286|Q16346|Q16347|Q92479	Frame_Shift_Del	DEL	ENST00000344691.4	37	c.131delT	CCDS42922.1																																																																																				0.736	RUNX1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000194230.1			13	9						13	9	---	---	---	---
MN1	4330	broad.mit.edu	37	22	28194933	28194934	+	In_Frame_Ins	INS	-	-	TGC	rs572936881|rs34890218|rs373314940|rs71194738	byFrequency	TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr22:28194933_28194934insTGC	ENST00000302326.4	-	1	2552_2553	c.1598_1599insGCA	c.(1597-1599)caa>caGCAa	p.533_533Q>QQ		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	533	Poly-Gln.				intramembranous ossification (GO:0001957)					NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						gctgctgctgttgctgctgctg	0.653			T	ETV6	"""AML, meningioma"""									447	0.0892572	0.0393	0.1196	5008	,	,		12327	0.0774		0.1789	False		,,,				2504	0.0552					ENST00000302326.4				Dom	yes		22	22q13	4330	T	meningioma (disrupted in balanced translocation) 1			"""L, O"""	ETV6		"""AML, meningioma"""		0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						c.(1597-1599)cca>cGCAca		meningioma (disrupted in balanced translocation) 1																																				SO:0001652	inframe_insertion	4330						binding	g.chr22:28194933_28194934insTGC	X82209	CCDS42998.1	22q12.1	2010-09-29			ENSG00000169184	ENSG00000169184			7180	protein-coding gene	gene with protein product	"""probable tumor suppressor protein MN1"""	156100	"""meningioma chromosome region"""	MGCR		7731706, 12569362	Standard	NM_002430		Approved	MGCR1-PEN, MGCR1	uc003adj.3	Q10571	OTTHUMG00000150975	ENST00000302326.4:c.1596_1598dupGCA	22.37:g.28194940_28194942dupTGC	ENSP00000304956:p.Gln550dup						p.533_533P>RT	NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN			1	2552_2553	-			533			Poly-Gln.		A9Z1V9	In_Frame_Ins	INS	ENST00000302326.4	37	c.1598_1599insGCA	CCDS42998.1																																																																																				0.653	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320737.1	NM_002430		4	7						4	7	---	---	---	---
NEFH	4744	broad.mit.edu	37	22	29885859	29885876	+	In_Frame_Del	DEL	GCTAAGTCCCCAGAGAAG	GCTAAGTCCCCAGAGAAG	-	rs546363585|rs57188573|rs59890097|rs532587474|rs165923	byFrequency	TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chr22:29885859_29885876delGCTAAGTCCCCAGAGAAG	ENST00000310624.6	+	4	2263_2280	c.2230_2247delGCTAAGTCCCCAGAGAAG	c.(2230-2247)gctaagtccccagagaagdel	p.AKSPEK750del		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	756	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.				axon development (GO:0061564)|axonogenesis (GO:0007409)|cell death (GO:0008219)|cell projection assembly (GO:0030031)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|peripheral nervous system neuron axonogenesis (GO:0048936)|regulation of organelle transport along microtubule (GO:1902513)	axon (GO:0030424)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)	dynein binding (GO:0045502)|kinesin binding (GO:0019894)|microtubule binding (GO:0008017)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						GAAGGAAGAAGCTAAGTCCCCAGAGAAGGCCAAGTCCC	0.55														165	0.0329473	0.0	0.0303	5008	,	,		19796	0.1339		0.0	False		,,,				2504	0.0092					ENST00000310624.6																			0				cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30	GRCh37	CD991813	NEFH	D	rs165923	c.(2230-2247)del		neurofilament, heavy polypeptide				2483,1779		947,589,595				http://www.ncbi.nlm.nih.gov/sites/varvu?gene		-3.4	0.1		dbSNP_129	102	4379,3869		1463,1453,1208	no	coding	NEFH	NM_021076.3		2410,2042,1803	A1A1,A1R,RR		46.9083,41.741,45.1479				6862,5648				SO:0001651	inframe_deletion	4744				cell death|nervous system development	neurofilament		g.chr22:29885859_29885876delGCTAAGTCCCCAGAGAAG		CCDS13858.1	22q12.2	2013-01-16	2008-09-19		ENSG00000100285	ENSG00000100285		"""Intermediate filaments type IV"""	7737	protein-coding gene	gene with protein product		162230	"""neurofilament, heavy polypeptide 200kDa"""				Standard	NM_021076		Approved		uc003afo.3	P12036	OTTHUMG00000151155	ENST00000310624.6:c.2230_2247delGCTAAGTCCCCAGAGAAG	22.37:g.29885859_29885876delGCTAAGTCCCCAGAGAAG	ENSP00000311997:p.Ala750_Lys755del						p.AKSPEK750del	NM_021076.3	NP_066554.2	P12036	NFH_HUMAN			4	2263_2280	+			756			30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.		B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	In_Frame_Del	DEL	ENST00000310624.6	37	c.2230_2247delGCTAAGTCCCCAGAGAAG	CCDS13858.1																																																																																				0.550	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321553.2	NM_021076		37	66						37	66	---	---	---	---
NUDT11	55190	broad.mit.edu	37	X	51239296	51239309	+	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCCTCGAGGCAGCC	-	rs78182391		TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	ENST00000375992.3	-	0	139_152					NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11						inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)	diphosphoinositol-polyphosphate diphosphatase activity (GO:0008486)|inositol diphosphate tetrakisphosphate diphosphatase activity (GO:0052840)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 1-diphosphatase activity (GO:0052846)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052847)|inositol-1-diphosphate-2,3,4,5,6-pentakisphosphate diphosphatase activity (GO:0052843)|inositol-3,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052848)|inositol-3-diphosphate-1,2,4,5,6-pentakisphosphate diphosphatase activity (GO:0052844)|inositol-5-diphosphate-1,2,3,4,6-pentakisphosphate diphosphatase activity (GO:0052845)|metal ion binding (GO:0046872)	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)				2406	0.637351	0.497	0.4928	3775	,	,		5662	0.4464		0.4553	False		,,,				2504	0.5102				GBM(38;198 791 1498 11752 13599)	ENST00000375992.3																			5	Unknown(5)	p.?(5)	upper_aerodigestive_tract(2)|prostate(1)|breast(1)|central_nervous_system(1)	breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9								nudix (nucleoside diphosphate linked moiety X)-type motif 11				1710,202		758,11,183,87,17						3.0	1.0		dbSNP_131	12	3133,173		1220,1,692,66,40	no	frameshift	NUDT11	NM_018159.3		1978,12,875,153,57	A1A1,A1R,A1,RR,R		5.2329,10.5649,7.1867				4843,375				SO:0001582	initiator_codon_variant	55190					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	AK001490	CCDS43952.1	Xp11.22-p11.1	2014-05-20			ENSG00000196368	ENSG00000196368		"""Nudix motif containing"""	18011	protein-coding gene	gene with protein product						12105228	Standard	NM_018159		Approved	DIPP3b, FLJ10628, hDIPP3beta	uc010njt.3	Q96G61	OTTHUMG00000021531		X.37:g.51239296_51239309delTCCTCGAGGCAGCC		HNSCC(48;0.14)						NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN			0	139_152	-	Ovarian(276;0.236)							Q9NVN0	Translation_Start_Site	DEL	ENST00000375992.3	37		CCDS43952.1																																																																																				0.692	NUDT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056579.1			4	9						4	9	---	---	---	---
TMEM187	8269	broad.mit.edu	37	X	153248003	153248009	+	Frame_Shift_Del	DEL	GAGGTCG	GAGGTCG	-	rs149045617		TCGA-H7-8502-01A-11D-2394-08	TCGA-H7-8502-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3c5bcda-f8d1-450d-8420-ef9a9d4c37ce	2fc63fcc-255a-409c-8f03-6eb260888240	g.chrX:153248003_153248009delGAGGTCG	ENST00000369982.4	+	2	1237_1243	c.490_496delGAGGTCG	c.(490-498)gaggtcgcafs	p.EVA164fs	MIR3202-1_ENST00000580198.1_RNA	NM_003492.2	NP_003483.1	Q14656	TM187_HUMAN	transmembrane protein 187	164						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)				breast(1)|large_intestine(1)|lung(1)|prostate(2)	5	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCAGGGCTTCGAGGTCGCACTGGGTGC	0.657																																						ENST00000369982.4																			0				breast(1)|large_intestine(1)|lung(1)|prostate(2)	5						c.(490-498)cafs		transmembrane protein 187																																				SO:0001589	frameshift_variant	8269					integral to membrane|transport vesicle		g.chrX:153248003_153248009delGAGGTCG	X92475	CCDS14739.1	Xq28	2007-03-14	2007-03-14	2007-03-14	ENSG00000177854	ENSG00000177854			13705	protein-coding gene	gene with protein product		300059	"""chromosome X open reading frame 12"""	CXorf12		8661027	Standard	NM_003492		Approved	ITBA1, DXS9878E	uc004fjq.2	Q14656	OTTHUMG00000024220	ENST00000369982.4:c.490_496delGAGGTCG	X.37:g.153248003_153248009delGAGGTCG	ENSP00000358999:p.Glu164fs						p.EVA164fs	NM_003492.2	NP_003483.1	Q14656	TM187_HUMAN			2	1237_1243	+	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		164					B2RC47|Q6IAV7	Frame_Shift_Del	DEL	ENST00000369982.4	37	c.490_496delGAGGTCG	CCDS14739.1																																																																																				0.657	TMEM187-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061093.1	NM_003492		12	7						12	7	---	---	---	---
