#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
DNAJC16	23341	broad.mit.edu	37	1	15873341	15873341	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr1:15873341C>T	ENST00000375847.3	+	6	1003	c.839C>T	c.(838-840)aCg>aTg	p.T280M	DNAJC16_ENST00000375849.1_Missense_Mutation_p.T280M|DNAJC16_ENST00000375838.1_Missense_Mutation_p.T280M	NM_015291.2	NP_056106.1	Q9Y2G8	DJC16_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 16	280					cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1)	18		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		TTTGACCAAACGCCCATTGTG	0.328																																						uc001aws.2																			0				urinary_tract(1)|lung(1)|kidney(1)	3						c.(838-840)ACG>ATG		DnaJ (Hsp40) homolog, subfamily C, member 16							104.0	101.0	102.0					1																	15873341		2203	4300	6503	SO:0001583	missense	23341				cell redox homeostasis|protein folding	integral to membrane	heat shock protein binding|unfolded protein binding	g.chr1:15873341C>T	AB023179	CCDS30606.1, CCDS72710.1	1p36.1	2011-09-02			ENSG00000116138	ENSG00000116138		"""Heat shock proteins / DNAJ (HSP40)"""	29157	protein-coding gene	gene with protein product							Standard	NM_015291		Approved	KIAA0962	uc001aws.3	Q9Y2G8	OTTHUMG00000002358	ENST00000375847.3:c.839C>T	1.37:g.15873341C>T	ENSP00000365007:p.Thr280Met					DNAJC16_uc001awr.1_Missense_Mutation_p.T280M|DNAJC16_uc001awt.2_Translation_Start_Site	p.T280M	NM_015291	NP_056106	Q9Y2G8	DJC16_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)	6	959	+		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)	280			Cytoplasmic (Potential).		Q68D57|Q86X32|Q8N5P4	Missense_Mutation	SNP	ENST00000375847.3	37	c.839C>T	CCDS30606.1	.	.	.	.	.	.	.	.	.	.	C	10.72	1.429146	0.25726	.	.	ENSG00000116138	ENST00000375847;ENST00000375838;ENST00000375849;ENST00000546230	T;T;T	0.70986	-0.53;-0.52;-0.53	6.17	0.984	0.19773	.	0.479484	0.26627	N	0.023322	T	0.35422	0.0931	N	0.01267	-0.92	0.21416	N	0.999692	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.26087	-1.0113	10	0.31617	T	0.26	-0.5326	5.9557	0.19271	0.0:0.2215:0.1482:0.6303	.	280;280	Q9Y2G8;Q5TDG9	DJC16_HUMAN;.	M	280	ENSP00000365007:T280M;ENSP00000364998:T280M;ENSP00000365009:T280M	ENSP00000364998:T280M	T	+	2	0	DNAJC16	15745928	1.000000	0.71417	0.007000	0.13788	0.018000	0.09664	2.385000	0.44371	-0.033000	0.13736	-1.202000	0.01658	ACG		0.328	DNAJC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006764.1	NM_015291	
MACF1	23499	broad.mit.edu	37	1	39907987	39907987	+	Nonsense_Mutation	SNP	C	C	T			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr1:39907987C>T	ENST00000372915.3	+	75	18727	c.18640C>T	c.(18640-18642)Cga>Tga	p.R6214*	MACF1_ENST00000567887.1_Nonsense_Mutation_p.R6352*|MACF1_ENST00000539005.1_Nonsense_Mutation_p.R4126*|MACF1_ENST00000317713.7_Nonsense_Mutation_p.R4256*|MACF1_ENST00000361689.2_Nonsense_Mutation_p.R4256*|MACF1_ENST00000289893.4_Nonsense_Mutation_p.R4758*|MACF1_ENST00000564288.1_Nonsense_Mutation_p.R6315*|MACF1_ENST00000545844.1_Nonsense_Mutation_p.R4256*			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6214					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)			AATTGCCCACCGACAGGTAAG	0.443																																						uc010oiu.1																			0				ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16						c.(14272-14274)CGA>TGA		microfilament and actin filament cross-linker							46.0	47.0	47.0					1																	39907987		2203	4300	6503	SO:0001587	stop_gained	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.chr1:39907987C>T	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.18640C>T	1.37:g.39907987C>T	ENSP00000362006:p.Arg6214*					MACF1_uc010ois.1_Nonsense_Mutation_p.R4256*	p.R4758*	NM_033044	NP_149033	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)		41	14403	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	6323			Spectrin 12.		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Nonsense_Mutation	SNP	ENST00000372915.3	37	c.14272C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	50|50	16.202023|16.202023	0.99857|0.99857	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000372925|ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893	.|.	.|.	.|.	6.03|6.03	3.64|3.64	0.41730|0.41730	.|.	.|0.089556	.|0.48767	.|D	.|0.000176	T|.	0.39784|.	0.1091|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.23691|.	-1.0181|.	4|.	.|0.02654	.|T	.|1	.|.	13.5204|13.5204	0.61563|0.61563	0.616:0.384:0.0:0.0|0.616:0.384:0.0:0.0	.|.	.|.	.|.	.|.	L|X	3259|4256;6214;4256;4256;4126;4758	.|.	.|ENSP00000289893:R4758X	P|R	+|+	2|1	0|2	MACF1|MACF1	39680574|39680574	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.950000|0.950000	0.60333|0.60333	2.920000|2.920000	0.48844|0.48844	1.110000|1.110000	0.41699|0.41699	-0.262000|-0.262000	0.10625|0.10625	CCG|CGA		0.443	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044	
KCNQ4	9132	broad.mit.edu	37	1	41284177	41284177	+	Splice_Site	SNP	A	A	G			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr1:41284177A>G	ENST00000347132.5	+	4	615	c.533A>G	c.(532-534)gAc>gGc	p.D178G	KCNQ4_ENST00000509682.2_Splice_Site_p.D178G	NM_004700.3|NM_172163.2	NP_004691.2|NP_751895.1	P56696	KCNQ4_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 4	178					inner ear morphogenesis (GO:0042472)|potassium ion transport (GO:0006813)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)		Ezogabine(DB04953)	GCCCCTGCAGACTTCATCGTG	0.701																																						uc001cgh.1																			0				central_nervous_system(1)	1						c.(532-534)GAC>GGC		potassium voltage-gated channel KQT-like protein							24.0	25.0	24.0					1																	41284177		2193	4274	6467	SO:0001630	splice_region_variant	9132				sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex		g.chr1:41284177A>G	AF105202	CCDS456.1	1p34	2012-07-05			ENSG00000117013	ENSG00000117013		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6298	protein-coding gene	gene with protein product		603537		DFNA2		10025409, 16382104	Standard	NM_004700		Approved	Kv7.4	uc001cgh.2	P56696	OTTHUMG00000007730	ENST00000347132.5:c.533-1A>G	1.37:g.41284177A>G						KCNQ4_uc001cgi.1_Missense_Mutation_p.D178G	p.D178G	NM_004700	NP_004691	P56696	KCNQ4_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)		4	615	+	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	178			Helical; Name=Segment S3; (Potential).		O96025	Missense_Mutation	SNP	ENST00000347132.5	37	c.533A>G	CCDS456.1	.	.	.	.	.	.	.	.	.	.	A	28.7	4.945578	0.92593	.	.	ENSG00000117013	ENST00000347132;ENST00000509682	D;D	0.99388	-5.81;-5.81	5.04	5.04	0.67666	Ion transport (1);	0.054274	0.64402	D	0.000001	D	0.99417	0.9794	M	0.93594	3.435	0.80722	D	1	P;D	0.61080	0.924;0.989	P;P	0.59703	0.838;0.862	D	0.98570	1.0645	9	.	.	.	.	12.7811	0.57476	1.0:0.0:0.0:0.0	.	178;178	P56696-2;P56696	.;KCNQ4_HUMAN	G	178	ENSP00000262916:D178G;ENSP00000423756:D178G	.	D	+	2	0	KCNQ4	41056764	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.058000	0.93896	2.114000	0.64651	0.528000	0.53228	GAC		0.701	KCNQ4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000020812.1	NM_004700	Missense_Mutation
MYSM1	114803	broad.mit.edu	37	1	59141202	59141202	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr1:59141202C>T	ENST00000472487.1	-	10	1480	c.1441G>A	c.(1441-1443)Gac>Aac	p.D481N	MYSM1_ENST00000493821.1_5'UTR	NM_001085487.2	NP_001078956.1	Q5VVJ2	MYSM1_HUMAN	Myb-like, SWIRM and MPN domains 1	481					chromatin remodeling (GO:0006338)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(7;9.36e-06)					TCTTTTCTGTCTCTGATTCGT	0.408																																						uc009wab.1																			0				skin(1)	1						c.(1441-1443)GAC>AAC		Myb-like, SWIRM and MPN domains 1							240.0	228.0	232.0					1																	59141202		1981	4163	6144	SO:0001583	missense	114803				histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin remodeling complex	DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr1:59141202C>T	AB067502	CCDS41343.1	1p32.1	2009-02-11	2009-02-11		ENSG00000162601	ENSG00000162601			29401	protein-coding gene	gene with protein product		612176				11572484, 17428495, 17707232	Standard	NM_001085487		Approved	KIAA1915	uc009wab.2	Q5VVJ2	OTTHUMG00000009533	ENST00000472487.1:c.1441G>A	1.37:g.59141202C>T	ENSP00000418734:p.Asp481Asn					MYSM1_uc001czc.2_RNA	p.D481N	NM_001085487	NP_001078956	Q5VVJ2	MYSM1_HUMAN			10	1464	-	all_cancers(7;9.36e-06)		481					A8KA54|B3KX65|Q68DD3|Q6AI53|Q7Z3G8|Q96PX3	Missense_Mutation	SNP	ENST00000472487.1	37	c.1441G>A	CCDS41343.1	.	.	.	.	.	.	.	.	.	.	C	17.18	3.323153	0.60634	.	.	ENSG00000162601	ENST00000472487	T	0.22134	1.97	5.35	5.35	0.76521	.	0.045535	0.85682	D	0.000000	T	0.21186	0.0510	L	0.36672	1.1	0.45452	D	0.998421	B	0.10296	0.003	B	0.06405	0.002	T	0.02244	-1.1189	10	0.62326	D	0.03	-16.0959	18.2298	0.89931	0.0:1.0:0.0:0.0	.	481	Q5VVJ2	MYSM1_HUMAN	N	481	ENSP00000418734:D481N	ENSP00000418734:D481N	D	-	1	0	MYSM1	58913790	1.000000	0.71417	0.997000	0.53966	0.982000	0.71751	5.435000	0.66532	2.785000	0.95823	0.655000	0.94253	GAC		0.408	MYSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026343.2	XM_055481	
GJA5	2702	broad.mit.edu	37	1	147230552	147230552	+	Silent	SNP	G	G	A			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr1:147230552G>A	ENST00000271348.2	-	2	956	c.795C>T	c.(793-795)ccC>ccT	p.P265P	RP11-433J22.2_ENST00000428911.1_RNA|GJA5_ENST00000369237.1_Silent_p.P265P	NM_005266.5	NP_005257.2	P36382	CXA5_HUMAN	gap junction protein, alpha 5, 40kDa	265					angiogenesis (GO:0001525)|artery morphogenesis (GO:0048844)|atrial cardiac muscle cell action potential (GO:0086014)|atrial septum development (GO:0003283)|AV node cell to bundle of His cell communication by electrical coupling (GO:0086053)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|gap junction assembly (GO:0016264)|mitral valve development (GO:0003174)|outflow tract morphogenesis (GO:0003151)|pulmonary valve formation (GO:0003193)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|transmembrane transport (GO:0055085)|ventricular septum development (GO:0003281)	connexon complex (GO:0005922)|gap junction (GO:0005921)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)	gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling (GO:0086077)|gap junction channel activity involved in cardiac conduction electrical coupling (GO:0086075)|gap junction hemi-channel activity (GO:0055077)	p.P265P(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			GATTAAAGTCGGGGGGTGGTG	0.532																																						uc001eps.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(793-795)CCC>CCT		connexin 40							72.0	79.0	77.0					1																	147230552		2203	4300	6503	SO:0001819	synonymous_variant	2702				angiogenesis|cell-cell junction assembly|muscle contraction	integral to membrane		g.chr1:147230552G>A		CCDS929.1	1q21.1	2008-02-05	2007-01-16		ENSG00000143140	ENSG00000265107		"""Ion channels / Gap junction proteins (connexins)"""	4279	protein-coding gene	gene with protein product	"""connexin 40"""	121013	"""gap junction protein, alpha 5, 40kD (connexin 40)"", ""gap junction protein, alpha 5, 40kDa (connexin 40)"""				Standard	NM_005266		Approved	CX40	uc001eps.1	P36382	OTTHUMG00000014020	ENST00000271348.2:c.795C>T	1.37:g.147230552G>A						GJA5_uc001ept.1_Silent_p.P265P	p.P265P	NM_181703	NP_859054	P36382	CXA5_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.202)		2	936	-	all_hematologic(923;0.0276)		265			Cytoplasmic (Potential).		Q5T3B6|Q5U0N6	Silent	SNP	ENST00000271348.2	37	c.795C>T	CCDS929.1																																																																																				0.532	GJA5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039422.2	NM_181703	
PRPF3	9129	broad.mit.edu	37	1	150318611	150318611	+	Splice_Site	SNP	G	G	A			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr1:150318611G>A	ENST00000324862.6	+	13	1923	c.1758G>A	c.(1756-1758)ggG>ggA	p.G586G	PRPF3_ENST00000414970.2_Splice_Site_p.G537G|PRPF3_ENST00000467329.1_3'UTR	NM_004698.2	NP_004689.1	O43395	PRPF3_HUMAN	pre-mRNA processing factor 3	586					mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U4/U6 x U5 tri-snRNP complex (GO:0046540)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)		TAGTGGAAGGGGGTGAGTCTG	0.488																																					Ovarian(168;1070 2670 5178 20729)	uc001eum.3																			0				ovary(1)	1						c.(1756-1758)GGG>GGA		PRP3 pre-mRNA processing factor 3 homolog							177.0	184.0	182.0					1																	150318611		2203	4300	6503	SO:0001630	splice_region_variant	9129				nuclear mRNA splicing, via spliceosome	Cajal body|cytoplasm|nuclear speck|spliceosomal complex	protein binding	g.chr1:150318611G>A	AF001947	CCDS951.1	1q21.1	2013-07-16	2013-06-10		ENSG00000117360	ENSG00000117360			17348	protein-coding gene	gene with protein product		607301	"""retinitis pigmentosa 18 (autosomal dominant)"", ""PRP3 pre-mRNA processing factor 3 homolog (yeast)"", ""PRP3 pre-mRNA processing factor 3 homolog (S. cerevisiae)"""	RP18			Standard	NM_004698		Approved	Prp3, hPrp3, SNRNP90	uc001eum.4	O43395	OTTHUMG00000012807	ENST00000324862.6:c.1759+1G>A	1.37:g.150318611G>A						PRPF3_uc009wlp.2_RNA|PRPF3_uc010pca.1_Silent_p.G545G|PRPF3_uc010pcb.1_Silent_p.G537G|PRPF3_uc009wlq.1_RNA	p.G586G	NM_004698	NP_004689	O43395	PRPF3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)	13	1920	+	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		586					B4DSY9|O43446|Q5VT54	Silent	SNP	ENST00000324862.6	37	c.1758G>A	CCDS951.1																																																																																				0.488	PRPF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035836.1	NM_004698	Silent
BRINP3	339479	broad.mit.edu	37	1	190234152	190234152	+	Missense_Mutation	SNP	C	C	T	rs369089898		TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr1:190234152C>T	ENST00000367462.3	-	4	692	c.461G>A	c.(460-462)cGg>cAg	p.R154Q	RP11-547I7.1_ENST00000452178.1_RNA|BRINP3_ENST00000534846.1_Missense_Mutation_p.R52Q	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	154	MACPF.				cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)											GCTCAACTTCCGCTTGTCCAC	0.388																																						uc001gse.1																			0				lung(2)|ovary(1)|kidney(1)|skin(1)	5						c.(460-462)CGG>CAG		family with sequence similarity 5, member C		C	GLN/ARG	0,4406		0,0,2203	101.0	84.0	90.0		461	5.8	1.0	1		90	1,8599	1.2+/-3.3	0,1,4299	no	missense	FAM5C	NM_199051.1	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	154/767	190234152	1,13005	2203	4300	6503	SO:0001583	missense	339479					extracellular region		g.chr1:190234152C>T	AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.461G>A	1.37:g.190234152C>T	ENSP00000356432:p.Arg154Gln					FAM5C_uc010pot.1_Missense_Mutation_p.R52Q	p.R154Q	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN			4	693	-	Prostate(682;0.198)		154					B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	ENST00000367462.3	37	c.461G>A	CCDS1373.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.046608	0.93740	0.0	1.16E-4	ENSG00000162670	ENST00000367462;ENST00000534846	D;T	0.84070	-1.8;2.19	5.75	5.75	0.90469	Membrane attack complex component/perforin (MACPF) domain (2);	0.000000	0.85682	D	0.000000	D	0.87156	0.6107	L	0.38531	1.155	0.53005	D	0.999968	D;D	0.71674	0.998;0.998	D;D	0.76575	0.979;0.988	D	0.85921	0.1446	10	0.39692	T	0.17	.	17.4435	0.87572	0.0:1.0:0.0:0.0	.	52;154	B7Z260;Q76B58	.;FAM5C_HUMAN	Q	154;52	ENSP00000356432:R154Q;ENSP00000438022:R52Q	ENSP00000356432:R154Q	R	-	2	0	FAM5C	188500775	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.556000	0.67307	2.721000	0.93114	0.585000	0.79938	CGG		0.388	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051	
LYST	1130	broad.mit.edu	37	1	235922440	235922440	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr1:235922440C>T	ENST00000389794.3	-	23	6887	c.6713G>A	c.(6712-6714)cGa>cAa	p.R2238Q	LYST_ENST00000389793.2_Missense_Mutation_p.R2238Q			Q99698	LYST_HUMAN	lysosomal trafficking regulator	2238					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			GCTGTGGCTTCGCTGGAAGGA	0.527																																						uc001hxj.2																			0				ovary(6)|breast(4)|central_nervous_system(2)	12						c.(6712-6714)CGA>CAA		lysosomal trafficking regulator							85.0	83.0	84.0					1																	235922440		2203	4300	6503	SO:0001583	missense	1130	Chediak-Higashi_syndrome			defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235922440C>T	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.6713G>A	1.37:g.235922440C>T	ENSP00000374444:p.Arg2238Gln					LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA	p.R2238Q	NM_000081	NP_000072	Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		23	6888	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	2238					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	c.6713G>A	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	C	16.99	3.274445	0.59649	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	T;T	0.66638	-0.22;-0.22	4.93	0.343	0.16001	.	0.487642	0.23676	N	0.045678	T	0.59390	0.2190	M	0.63428	1.95	0.80722	D	1	B	0.14805	0.011	B	0.12156	0.007	T	0.53322	-0.8455	10	0.54805	T	0.06	.	9.5082	0.39060	0.0:0.4905:0.0:0.5095	.	2238	Q99698	LYST_HUMAN	Q	2238	ENSP00000374444:R2238Q;ENSP00000374443:R2238Q	ENSP00000374443:R2238Q	R	-	2	0	LYST	233989063	0.873000	0.30073	0.843000	0.33291	0.991000	0.79684	0.550000	0.23345	-0.121000	0.11787	0.558000	0.71614	CGA		0.527	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5		
HSPA14	51182	broad.mit.edu	37	10	14891809	14891809	+	Splice_Site	SNP	G	G	A			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr10:14891809G>A	ENST00000378372.3	+	6	705	c.466G>A	c.(466-468)Gga>Aga	p.G156R		NM_016299.2	NP_057383.2	Q0VDF9	HSP7E_HUMAN	heat shock 70kDa protein 14	156					'de novo' cotranslational protein folding (GO:0051083)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)			breast(4)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	17						AAATGCTCTTGGGTAAGTATA	0.338																																						uc001inf.2																			0				ovary(2)|breast(2)|lung(1)	5						c.(466-468)GGA>AGA		heat shock 70kDa protein 14 isoform 1							90.0	95.0	93.0					10																	14891809		2203	4300	6503	SO:0001630	splice_region_variant	51182				'de novo' cotranslational protein folding	cytosol	ATP binding|protein binding	g.chr10:14891809G>A	AF112210	CCDS7103.1, CCDS60487.1	10p13	2011-09-02			ENSG00000187522	ENSG00000187522		"""Heat shock proteins / HSP70"""	29526	protein-coding gene	gene with protein product		610369				12477932	Standard	NM_016299		Approved	HSP70-4, HSP70L1	uc001ind.4	Q0VDF9	OTTHUMG00000017712	ENST00000378372.3:c.467+1G>A	10.37:g.14891809G>A						HSPA14_uc010qbw.1_Missense_Mutation_p.G156R	p.G156R	NM_016299	NP_057383	Q0VDF9	HSP7E_HUMAN			6	607	+			156					A8K8F8|B0YIY9|Q9P0X2|Q9UI07	Missense_Mutation	SNP	ENST00000378372.3	37	c.466G>A	CCDS7103.1	.	.	.	.	.	.	.	.	.	.	G	15.14	2.744627	0.49151	.	.	ENSG00000187522	ENST00000378372	T	0.00922	5.54	5.73	5.73	0.89815	.	0.140857	0.64402	D	0.000004	T	0.00608	0.0020	N	0.00637	-1.305	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.75266	-0.3378	10	0.72032	D	0.01	-7.5899	19.9053	0.97004	0.0:0.0:1.0:0.0	.	156	Q0VDF9	HSP7E_HUMAN	R	156	ENSP00000367623:G156R	ENSP00000367623:G156R	G	+	1	0	HSPA14	14931815	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	6.800000	0.75165	2.679000	0.91253	0.650000	0.86243	GGA		0.338	HSPA14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046910.1	NM_016299	Missense_Mutation
PTEN	5728	broad.mit.edu	37	10	89720650	89720650	+	Splice_Site	SNP	G	G	A			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr10:89720650G>A	ENST00000371953.3	+	8	2158		c.e8-1		PTEN_ENST00000472832.1_Splice_Site	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog						activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.?(4)|p.N212fs*1(2)|p.Y27fs*1(2)|p.M264fs*8(2)|p.G165_*404del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		tttttttttAGGACAAAATGT	0.264		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.2		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	D|Mis|N|F|S	phosphatase and tensin homolog gene			"""L, E, M, O"""		harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial		53	Whole gene deletion(37)|Deletion - Frameshift(11)|Unknown(4)|Deletion - In frame(1)	p.R55fs*1(4)|p.?(3)|p.N212fs*1(2)|p.Y27fs*1(2)|p.M264fs*8(2)|p.G165_*404del(1)	prostate(16)|central_nervous_system(11)|skin(6)|lung(4)|ovary(4)|haematopoietic_and_lymphoid_tissue(3)|endometrium(3)|breast(3)|urinary_tract(2)|soft_tissue(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334						c.e9-1		phosphatase and tensin homolog							22.0	23.0	23.0					10																	89720650		2151	4239	6390	SO:0001630	splice_region_variant	5728	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89720650G>A	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.802-1G>A	10.37:g.89720650G>A		HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)					p.D268_splice	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	9	1833	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)						B2R904|F2YHV0|O00633|O02679|Q6ICT7	Splice_Site	SNP	ENST00000371953.3	37	c.802_splice	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.994774	0.74703	.	.	ENSG00000171862	ENST00000371953	.	.	.	5.13	5.13	0.70059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5632	0.91108	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PTEN	89710630	1.000000	0.71417	0.998000	0.56505	0.967000	0.64934	9.325000	0.96381	2.399000	0.81585	0.591000	0.81541	.		0.264	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	Intron
MUC2	4583	broad.mit.edu	37	11	1084747	1084747	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr11:1084747C>T	ENST00000441003.2	+	20	2569	c.2542C>T	c.(2542-2544)Cgc>Tgc	p.R848C	MUC2_ENST00000359061.5_Missense_Mutation_p.R848C	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	848					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CAAGAGAGGACGCTGGGTGTG	0.602																																						uc001lsx.1																			0				lung(1)|breast(1)	2						c.(2542-2544)CGC>TGC		mucin 2 precursor	Pranlukast(DB01411)						54.0	51.0	52.0					11																	1084747		2096	4209	6305	SO:0001583	missense	4583					inner mucus layer|outer mucus layer	protein binding	g.chr11:1084747C>T	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.2542C>T	11.37:g.1084747C>T	ENSP00000415183:p.Arg848Cys						p.R848C	NM_002457	NP_002448	Q02817	MUC2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	20	2569	+		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)	848					Q14878	Missense_Mutation	SNP	ENST00000441003.2	37	c.2542C>T		.	.	.	.	.	.	.	.	.	.	C	11.70	1.715705	0.30413	.	.	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.22743	1.94;1.94	4.21	2.02	0.26589	.	0.905093	0.09224	N	0.831508	T	0.40886	0.1135	M	0.78049	2.395	0.09310	N	1	D	0.76494	0.999	P	0.60286	0.872	T	0.14309	-1.0477	10	0.72032	D	0.01	.	7.4556	0.27264	0.5762:0.2995:0.1243:0.0	.	848	E7EUV1	.	C	848	ENSP00000415183:R848C;ENSP00000351956:R848C	ENSP00000351956:R848C	R	+	1	0	MUC2	1074747	0.000000	0.05858	0.603000	0.28903	0.694000	0.40290	0.471000	0.22100	0.930000	0.37217	0.555000	0.69702	CGC		0.602	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457	
NELL1	4745	broad.mit.edu	37	11	21596532	21596532	+	Silent	SNP	T	T	C			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr11:21596532T>C	ENST00000357134.5	+	20	2549	c.2397T>C	c.(2395-2397)tgT>tgC	p.C799C	NELL1_ENST00000529218.1_3'UTR|NELL1_ENST00000532434.1_Silent_p.C752C|NELL1_ENST00000298925.5_Silent_p.C827C|NELL1_ENST00000325319.5_Silent_p.C742C	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	799					cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|nervous system development (GO:0007399)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						GAAGAGTCTGTTGTTCTGTGG	0.353																																						uc001mqe.2																			0				ovary(2)|large_intestine(1)	3						c.(2395-2397)TGT>TGC		nel-like 1 isoform 1 precursor							185.0	166.0	173.0					11																	21596532		2203	4300	6503	SO:0001819	synonymous_variant	4745				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity	g.chr11:21596532T>C	AK127805	CCDS7855.1, CCDS44555.1, CCDS73267.1, CCDS73268.1	11p15.1	2008-02-01	2001-11-28		ENSG00000165973	ENSG00000165973			7750	protein-coding gene	gene with protein product		602319	"""nel (chicken)-like 1"""			8975702	Standard	NM_006157		Approved	IDH3GL, FLJ45906	uc001mqe.3	Q92832	OTTHUMG00000166042	ENST00000357134.5:c.2397T>C	11.37:g.21596532T>C						NELL1_uc001mqf.2_Silent_p.C752C|NELL1_uc009yid.2_Silent_p.C827C|NELL1_uc010rdo.1_Silent_p.C742C|NELL1_uc010rdp.1_Silent_p.C512C|NELL1_uc001mqh.2_Silent_p.C344C	p.C799C	NM_006157	NP_006148	Q92832	NELL1_HUMAN			20	2550	+			799			VWFC 5.		B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Silent	SNP	ENST00000357134.5	37	c.2397T>C	CCDS7855.1																																																																																				0.353	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387588.1	NM_006157	
OR5D18	219438	broad.mit.edu	37	11	55587476	55587476	+	Missense_Mutation	SNP	T	T	C			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr11:55587476T>C	ENST00000333976.4	+	1	391	c.371T>C	c.(370-372)tTc>tCc	p.F124S		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	124						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				TATGACCGCTTCGTGGCCATT	0.458																																						uc010rin.1																			0				skin(2)|ovary(1)	3						c.(370-372)TTC>TCC		olfactory receptor, family 5, subfamily D,							172.0	164.0	167.0					11																	55587476		2200	4296	6496	SO:0001583	missense	219438				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55587476T>C	AB065781	CCDS31510.1	11q11	2012-08-09			ENSG00000186119	ENSG00000186119		"""GPCR / Class A : Olfactory receptors"""	15285	protein-coding gene	gene with protein product							Standard	NM_001001952		Approved		uc010rin.2	Q8NGL1	OTTHUMG00000166811	ENST00000333976.4:c.371T>C	11.37:g.55587476T>C	ENSP00000335025:p.Phe124Ser						p.F124S	NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN			1	371	+		all_epithelial(135;0.208)	124			Cytoplasmic (Potential).		Q6IF67|Q6IFD3|Q96RB3	Missense_Mutation	SNP	ENST00000333976.4	37	c.371T>C	CCDS31510.1	.	.	.	.	.	.	.	.	.	.	.	17.63	3.437353	0.62955	.	.	ENSG00000186119	ENST00000333976	T	0.01347	4.99	4.84	2.23	0.28157	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40144	N	0.001172	T	0.06005	0.0156	M	0.83603	2.65	0.26371	N	0.976881	D	0.63046	0.992	D	0.65323	0.934	T	0.07986	-1.0744	10	0.87932	D	0	-32.647	5.2431	0.15483	0.4212:0.0:0.1482:0.4306	.	124	Q8NGL1	OR5DI_HUMAN	S	124	ENSP00000335025:F124S	ENSP00000335025:F124S	F	+	2	0	OR5D18	55344052	0.454000	0.25728	0.013000	0.15412	0.784000	0.44337	1.075000	0.30716	0.800000	0.34041	0.457000	0.33378	TTC		0.458	OR5D18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391515.1	NM_001001952	
PANX3	116337	broad.mit.edu	37	11	124489386	124489386	+	Missense_Mutation	SNP	A	A	G			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr11:124489386A>G	ENST00000284288.2	+	4	801	c.734A>G	c.(733-735)aAg>aGg	p.K245R		NM_052959.2	NP_443191.1	Q96QZ0	PANX3_HUMAN	pannexin 3	245					cell-cell signaling (GO:0007267)|ion transport (GO:0006811)|protein hexamerization (GO:0034214)|transmembrane transport (GO:0055085)	gap junction (GO:0005921)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gap junction hemi-channel activity (GO:0055077)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1)	26	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)		TGCTCCATCAAGACAGGGCTG	0.488																																						uc001qah.2																			0					0						c.(733-735)AAG>AGG		pannexin 3							113.0	95.0	101.0					11																	124489386		2201	4299	6500	SO:0001583	missense	116337				protein hexamerization	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity	g.chr11:124489386A>G	AF406650	CCDS8447.1	11q24.2	2011-12-02			ENSG00000154143	ENSG00000154143		"""Ion channels / Pannexins"""	20573	protein-coding gene	gene with protein product		608422					Standard	NM_052959		Approved	Px3	uc001qah.3	Q96QZ0	OTTHUMG00000165925	ENST00000284288.2:c.734A>G	11.37:g.124489386A>G	ENSP00000284288:p.Lys245Arg						p.K245R	NM_052959	NP_443191	Q96QZ0	PANX3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)	4	734	+	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	245			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000284288.2	37	c.734A>G	CCDS8447.1	.	.	.	.	.	.	.	.	.	.	A	9.898	1.205982	0.22205	.	.	ENSG00000154143	ENST00000284288	T	0.28255	1.62	5.24	5.24	0.73138	.	0.047874	0.85682	D	0.000000	T	0.19565	0.0470	N	0.17312	0.475	0.32968	D	0.521937	P	0.36199	0.543	B	0.34991	0.193	T	0.19679	-1.0298	10	0.17832	T	0.49	-16.6455	15.1306	0.72520	1.0:0.0:0.0:0.0	.	245	Q96QZ0	PANX3_HUMAN	R	245	ENSP00000284288:K245R	ENSP00000284288:K245R	K	+	2	0	PANX3	123994596	1.000000	0.71417	0.999000	0.59377	0.869000	0.49853	4.635000	0.61332	1.990000	0.58119	0.459000	0.35465	AAG		0.488	PANX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387064.1		
ABCC9	10060	broad.mit.edu	37	12	21995285	21995285	+	Missense_Mutation	SNP	A	A	T			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr12:21995285A>T	ENST00000261201.4	-	27	3435	c.3436T>A	c.(3436-3438)Ttt>Att	p.F1146I	ABCC9_ENST00000345162.2_Missense_Mutation_p.F1110I|RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000261200.4_Missense_Mutation_p.F1146I	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1146	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	ATAAAATAAAAGGCAACACCA	0.438																																						uc001rfi.1																			0				ovary(4)|skin(2)	6						c.(3436-3438)TTT>ATT		ATP-binding cassette, sub-family C, member 9	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						112.0	101.0	105.0					12																	21995285		2203	4300	6503	SO:0001583	missense	10060				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	g.chr12:21995285A>T	AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.3436T>A	12.37:g.21995285A>T	ENSP00000261201:p.Phe1146Ile					ABCC9_uc001rfh.2_Missense_Mutation_p.F1146I|ABCC9_uc001rfj.1_Missense_Mutation_p.F1110I	p.F1146I	NM_005691	NP_005682	O60706	ABCC9_HUMAN			27	3456	-			1146			Helical; Name=14; (Potential).|ABC transmembrane type-1 2.		O60707	Missense_Mutation	SNP	ENST00000261201.4	37	c.3436T>A	CCDS8694.1	.	.	.	.	.	.	.	.	.	.	A	17.25	3.342182	0.61073	.	.	ENSG00000069431	ENST00000261200;ENST00000544039;ENST00000261201;ENST00000345162	D;D;D;D	0.88277	-2.36;-2.36;-2.36;-2.36	5.21	5.21	0.72293	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.053505	0.85682	D	0.000000	D	0.91192	0.7225	M	0.67569	2.06	0.53688	D	0.999973	P;D	0.53462	0.741;0.96	P;P	0.52066	0.507;0.689	D	0.92035	0.5636	10	0.62326	D	0.03	-21.2695	15.2508	0.73545	1.0:0.0:0.0:0.0	.	1146;1146	O60706;O60706-2	ABCC9_HUMAN;.	I	1146;773;1146;1110	ENSP00000261200:F1146I;ENSP00000440521:F773I;ENSP00000261201:F1146I;ENSP00000261202:F1110I	ENSP00000261200:F1146I	F	-	1	0	ABCC9	21886552	1.000000	0.71417	1.000000	0.80357	0.762000	0.43233	7.315000	0.78998	2.186000	0.69663	0.460000	0.39030	TTT		0.438	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691	
ITPR2	3709	broad.mit.edu	37	12	26808744	26808744	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr12:26808744C>T	ENST00000381340.3	-	20	2902	c.2486G>A	c.(2485-2487)aGg>aAg	p.R829K		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	829					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|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)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	GGCAAATTTCCTCTTCATATC	0.313																																						uc001rhg.2																			0				kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14						c.(2485-2487)AGG>AAG		inositol 1,4,5-triphosphate receptor, type 2							100.0	100.0	100.0					12																	26808744		1798	4068	5866	SO:0001583	missense	3709				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26808744C>T	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.2486G>A	12.37:g.26808744C>T	ENSP00000370744:p.Arg829Lys						p.R829K	NM_002223	NP_002214	Q14571	ITPR2_HUMAN			20	2903	-	Colorectal(261;0.0847)		829			Cytoplasmic (Potential).		O94773	Missense_Mutation	SNP	ENST00000381340.3	37	c.2486G>A	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	C	12.88	2.071855	0.36566	.	.	ENSG00000123104	ENST00000381340	D	0.91180	-2.8	5.48	3.62	0.41486	.	0.073580	0.85682	D	0.000000	T	0.82079	0.4959	L	0.40543	1.245	0.80722	D	1	B	0.06786	0.001	B	0.10450	0.005	T	0.70777	-0.4780	10	0.08381	T	0.77	.	6.9431	0.24504	0.0:0.6739:0.1368:0.1893	.	829	Q14571	ITPR2_HUMAN	K	829	ENSP00000370744:R829K	ENSP00000370744:R829K	R	-	2	0	ITPR2	26700011	0.997000	0.39634	1.000000	0.80357	0.997000	0.91878	0.558000	0.23469	2.565000	0.86533	0.655000	0.94253	AGG		0.313	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223	
ADAMTS20	80070	broad.mit.edu	37	12	43771195	43771195	+	Silent	SNP	G	G	C			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr12:43771195G>C	ENST00000389420.3	-	32	4967	c.4968C>G	c.(4966-4968)gcC>gcG	p.A1656A		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1656	TSP type-1 15. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CTTTCCAAGTGGCCAAATGCA	0.403																																						uc010skx.1																			0				central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19						c.(4966-4968)GCC>GCG		a disintegrin-like and metalloprotease with							90.0	82.0	85.0					12																	43771195		2203	4300	6503	SO:0001819	synonymous_variant	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43771195G>C	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.4968C>G	12.37:g.43771195G>C							p.A1656A	NM_025003	NP_079279	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	32	4968	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	1656			TSP type-1 15.		A6NNC9|J3QT00	Silent	SNP	ENST00000389420.3	37	c.4968C>G	CCDS31778.2																																																																																				0.403	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003	
SUDS3	64426	broad.mit.edu	37	12	118841310	118841310	+	Missense_Mutation	SNP	A	A	G			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr12:118841310A>G	ENST00000543473.1	+	10	1103	c.791A>G	c.(790-792)tAt>tGt	p.Y264C	SUDS3_ENST00000541280.1_3'UTR|SUDS3_ENST00000397564.2_Missense_Mutation_p.Y265C	NM_022491.2	NP_071936.2	Q9H7L9	SDS3_HUMAN	suppressor of defective silencing 3 homolog (S. cerevisiae)	264					apoptotic process (GO:0006915)|histone deacetylation (GO:0016575)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|substantia nigra development (GO:0021762)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Sin3 complex (GO:0016580)	enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)			breast(1)|lung(1)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AAACTGTACTATGACAAAAGA	0.483																																						uc001twz.2																			0					0						c.(790-792)TAT>TGT		suppressor of defective silencing 3							41.0	40.0	40.0					12																	118841310		1914	4133	6047	SO:0001583	missense	64426				chromatin modification|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	Sin3 complex	histone deacetylase binding	g.chr12:118841310A>G	AK023801	CCDS44993.1	12q24.23	2006-02-13	2006-02-13		ENSG00000111707	ENSG00000111707			29545	protein-coding gene	gene with protein product	"""sin3A-associated protein, 45kDa"""	608250	"""suppressor of defective silencing 3 homolog (SDS3, S. cerevisiae)"""			11909966	Standard	NM_022491		Approved	SDS3, FLJ00052, SAP45	uc001twz.3	Q9H7L9	OTTHUMG00000168884	ENST00000543473.1:c.791A>G	12.37:g.118841310A>G	ENSP00000443988:p.Tyr264Cys						p.Y264C	NM_022491	NP_071936	Q9H7L9	SDS3_HUMAN			10	930	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		264					Q4KMQ5|Q8N6H0|Q9H8D2	Missense_Mutation	SNP	ENST00000543473.1	37	c.791A>G	CCDS44993.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.158138	0.78114	.	.	ENSG00000111707	ENST00000543473;ENST00000397564	.	.	.	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.79070	0.4384	M	0.78049	2.395	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	T	0.82186	-0.0582	9	0.87932	D	0	-6.9635	14.8967	0.70649	1.0:0.0:0.0:0.0	.	264	Q9H7L9	SDS3_HUMAN	C	264;265	.	ENSP00000380695:Y265C	Y	+	2	0	SUDS3	117325693	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.069000	0.89491	2.174000	0.68829	0.533000	0.62120	TAT		0.483	SUDS3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401504.1	NM_022491	
RB1	5925	broad.mit.edu	37	13	48953730	48953730	+	Splice_Site	SNP	C	C	T	rs3092891	byFrequency	TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr13:48953730C>T	ENST00000267163.4	+	14	1471	c.1333C>T	c.(1333-1335)Cga>Tga	p.R445*		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	445	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(8)|p.R445*(2)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	TTGTTTGTAGCGATACAAACT	0.333		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												uc001vcb.2		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	D|Mis|N|F|S	retinoblastoma gene			"""L, E, M, O"""		retinoblastoma|sarcoma|breast|small cell lung	retinoblastoma|sarcoma|breast|small cell lung		25	Whole gene deletion(15)|Unknown(8)|Substitution - Nonsense(2)	p.?(7)|p.R445*(2)	bone(11)|breast(5)|eye(3)|central_nervous_system(2)|adrenal_gland(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358	GRCh37	CM900192|CX011720	RB1	M|X	rs3092891	c.(1333-1335)CGA>TGA		retinoblastoma 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						18.0	19.0	19.0					13																	48953730		2200	4300	6500	SO:0001630	splice_region_variant	5925	Hereditary_Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:48953730C>T	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.1333-1C>T	13.37:g.48953730C>T		TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)					p.R445*	NM_000321	NP_000312	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	14	1499	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	445			Domain A.|Pocket; binds T and E1A.		A8K5E3|P78499|Q5VW46|Q8IZL4	Nonsense_Mutation	SNP	ENST00000267163.4	37	c.1333C>T	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	C	38	7.075321	0.98048	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	.	.	.	5.74	4.88	0.63580	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.7109	0.62667	0.3973:0.6027:0.0:0.0	rs3092891;rs3092891	.	.	.	X	424;445	.	.	R	+	1	2	RB1	47851731	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.278000	0.43426	1.383000	0.46405	0.557000	0.71058	CGA		0.333	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1		Nonsense_Mutation
GOLGA8DP	100132979	broad.mit.edu	37	15	22709699	22709699	+	RNA	SNP	T	T	A			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr15:22709699T>A	ENST00000314246.8	-	0	1085				RN7SL545P_ENST00000495815.2_RNA			Q0D2H9	GOG8D_HUMAN	golgin A8 family, member D, pseudogene							Golgi apparatus (GO:0005794)											CTTCTTCTCCTTCTTCAACGA	0.557																																						uc010axw.2																			0					0						c.(187-189)AAG>ATG		golgi autoantigen, golgin subfamily a, 8E																																						100132979							g.chr15:22709699T>A			15q11.2	2014-04-10	2011-04-15	2010-02-12	ENSG00000185182	ENSG00000185182			32376	pseudogene	pseudogene			"""golgi autoantigen, golgin subfamily a, 8D"""	GOLGA8D		12477932	Standard	NR_027407		Approved		uc010axw.2	Q0D2H9	OTTHUMG00000171882		15.37:g.22709699T>A						GOLGA8DP_uc010axx.2_Missense_Mutation_p.K63M|uc010tzw.1_5'Flank	p.K63M	NM_001012423	NP_001012423					10	1086	-									Missense_Mutation	SNP	ENST00000314246.8	37	c.188A>T		.	.	.	.	.	.	.	.	.	.	T	1.168	-0.641824	0.03531	.	.	ENSG00000185182	ENST00000341390;ENST00000314246;ENST00000317692	.	.	.	0.921	-0.461	0.12172	.	.	.	.	.	T	0.53061	0.1773	.	.	.	.	.	.	D	0.65815	0.995	P	0.60236	0.871	T	0.55585	-0.8118	6	0.54805	T	0.06	.	3.0262	0.06091	0.3918:0.0:0.0:0.6082	.	63	F8WBT8	.	M	63;63;281	.	ENSP00000327024:K63M	K	-	2	0	AC116165.1	20261063	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.390000	0.20768	-0.133000	0.11537	-1.267000	0.01435	AAG		0.557	GOLGA8DP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415613.1	NR_027407	
THBS1	7057	broad.mit.edu	37	15	39874516	39874516	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr15:39874516G>A	ENST00000260356.5	+	3	355	c.190G>A	c.(190-192)Gcc>Acc	p.A64T		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	64	Heparin-binding.				activation of MAPK activity (GO:0000187)|behavioral response to pain (GO:0048266)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to tumor necrosis factor (GO:0071356)|chronic inflammatory response (GO:0002544)|endocardial cushion development (GO:0003197)|engulfment of apoptotic cell (GO:0043652)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|immune response (GO:0006955)|negative regulation of angiogenesis (GO:0016525)|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002581)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cGMP-mediated signaling (GO:0010754)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell antigen processing and presentation (GO:0002605)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of plasminogen activation (GO:0010757)|outflow tract morphogenesis (GO:0003151)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of translation (GO:0045727)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to magnesium ion (GO:0032026)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|response to unfolded protein (GO:0006986)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|sarcoplasmic reticulum (GO:0016529)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|collagen V binding (GO:0070052)|fibrinogen binding (GO:0070051)|fibroblast growth factor binding (GO:0017134)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|proteoglycan binding (GO:0043394)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)		CATCGAGGATGCCAACCTGAT	0.612																																						uc001zkh.2																			0				ovary(3)|central_nervous_system(3)	6						c.(190-192)GCC>ACC		thrombospondin 1 precursor	Becaplermin(DB00102)						61.0	59.0	59.0					15																	39874516		2200	4297	6497	SO:0001583	missense	7057				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding	g.chr15:39874516G>A		CCDS32194.1	15q15	2009-04-08			ENSG00000137801	ENSG00000137801			11785	protein-coding gene	gene with protein product	"""thrombospondin-1p180"""	188060				2341158, 2335352	Standard	NM_003246		Approved	TSP1, THBS, TSP, THBS-1, TSP-1	uc001zkh.3	P07996	OTTHUMG00000133665	ENST00000260356.5:c.190G>A	15.37:g.39874516G>A	ENSP00000260356:p.Ala64Thr						p.A64T	NM_003246	NP_003237	P07996	TSP1_HUMAN		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	3	369	+		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)	64			TSP N-terminal.|Heparin-binding.		A8K6H4|B4E3J7|B9EGH6|Q15667|Q59E99	Missense_Mutation	SNP	ENST00000260356.5	37	c.190G>A	CCDS32194.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.475311	0.84640	.	.	ENSG00000137801	ENST00000260356;ENST00000397591	T;T	0.02103	4.45;4.45	5.28	5.28	0.74379	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.000000	0.35903	N	0.002903	T	0.06234	0.0161	L	0.59436	1.845	0.53005	D	0.999969	P	0.51057	0.941	P	0.48982	0.597	T	0.45775	-0.9238	10	0.32370	T	0.25	-34.3224	18.0692	0.89400	0.0:0.0:1.0:0.0	.	64	P07996	TSP1_HUMAN	T	64	ENSP00000260356:A64T;ENSP00000380720:A64T	ENSP00000260356:A64T	A	+	1	0	THBS1	37661808	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.672000	0.61597	2.741000	0.93983	0.563000	0.77884	GCC		0.612	THBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257831.2	NM_003246	
CDAN1	146059	broad.mit.edu	37	15	43022940	43022940	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr15:43022940C>T	ENST00000356231.3	-	14	2053	c.2030G>A	c.(2029-2031)cGg>cAg	p.R677Q		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	677					chromatin assembly (GO:0031497)|chromatin organization (GO:0006325)|negative regulation of DNA replication (GO:0008156)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		CAGCAGAGTCCGCACATCCAG	0.647																																						uc001zql.2																			0				ovary(2)	2						c.(2029-2031)CGG>CAG		codanin 1							17.0	20.0	19.0					15																	43022940		2198	4287	6485	SO:0001583	missense	146059					integral to membrane	protein binding	g.chr15:43022940C>T	AF525398	CCDS32209.1	15q15.2	2012-04-25	2012-04-25			ENSG00000140326			1713	protein-coding gene	gene with protein product		607465	"""congenital dyserythropoietic anemia, type I"""			8634422, 12434312	Standard	XM_005254177		Approved	CDA-I, CDAI	uc001zql.3	Q8IWY9		ENST00000356231.3:c.2030G>A	15.37:g.43022940C>T	ENSP00000348564:p.Arg677Gln					CDAN1_uc001zqj.2_RNA|CDAN1_uc001zqk.2_Missense_Mutation_p.G3R	p.R677Q	NM_138477	NP_612486	Q8IWY9	CDAN1_HUMAN		GBM - Glioblastoma multiforme(94;2.49e-07)	14	2147	-		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)	677					Q6NYD0|Q7Z7L5|Q969N3	Missense_Mutation	SNP	ENST00000356231.3	37	c.2030G>A	CCDS32209.1	.	.	.	.	.	.	.	.	.	.	C	14.88	2.666551	0.47677	.	.	ENSG00000140326	ENST00000356231;ENST00000267892	D	0.85861	-2.04	5.77	-1.52	0.08637	.	0.622651	0.17546	N	0.170353	T	0.67325	0.2881	N	0.16903	0.455	0.22171	N	0.999316	P	0.45283	0.855	B	0.37480	0.251	T	0.63116	-0.6709	10	0.62326	D	0.03	-0.5448	6.4878	0.22099	0.5666:0.2053:0.0:0.2281	.	677	Q8IWY9	CDAN1_HUMAN	Q	677;675	ENSP00000348564:R677Q	ENSP00000267892:R675Q	R	-	2	0	CDAN1	40810232	0.562000	0.26586	0.011000	0.14972	0.447000	0.32167	1.251000	0.32862	-0.139000	0.11414	-0.140000	0.14226	CGG		0.647	CDAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431103.1	XM_085300	
LOC645752	645752	broad.mit.edu	37	15	78208916	78208916	+	lincRNA	SNP	C	C	G	rs56290535	byFrequency	TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr15:78208916C>G	ENST00000565869.1	+	0	53				RP11-114H24.2_ENST00000567226.1_RNA|RN7SL214P_ENST00000487317.2_RNA																							TCCAGATGTTCTCCTCCATCT	0.627													C|||	476	0.0950479	0.0998	0.1023	5008	,	,		17114	0.0675		0.1054	False		,,,				2504	0.1012					uc010bky.2																			0					0						c.(817-819)GAA>CAA		SubName: Full=GOLGA6 protein; Flags: Fragment;																																						645752							g.chr15:78208916C>G																													15.37:g.78208916C>G						LOC645752_uc010umq.1_5'Flank|uc002bcw.1_5'Flank|uc002bcx.1_5'Flank	p.E273Q	NR_027024						14	1581	-									Missense_Mutation	SNP	ENST00000565869.1	37	c.817G>C																																																																																					0.627	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1		
ZCCHC14	23174	broad.mit.edu	37	16	87448889	87448889	+	Missense_Mutation	SNP	G	G	T			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr16:87448889G>T	ENST00000268616.4	-	9	1274	c.1057C>A	c.(1057-1059)Ctg>Atg	p.L353M		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	353							nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		CACTTTTCCAGCTCCAGCTGG	0.423																																						uc002fjz.1																			0				upper_aerodigestive_tract(1)|breast(1)	2						c.(1057-1059)CTG>ATG		zinc finger, CCHC domain containing 14							130.0	125.0	127.0					16																	87448889		2198	4300	6498	SO:0001583	missense	23174				cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding	g.chr16:87448889G>T	AB011151	CCDS10961.1	16q24.2	2013-01-10			ENSG00000140948	ENSG00000140948		"""Zinc fingers, CCHC domain containing"", ""Sterile alpha motif (SAM) domain containing"""	24134	protein-coding gene	gene with protein product						9628581	Standard	XM_005255858		Approved	BDG29, MGC14139	uc002fjz.1	Q8WYQ9	OTTHUMG00000137655	ENST00000268616.4:c.1057C>A	16.37:g.87448889G>T	ENSP00000268616:p.Leu353Met					ZCCHC14_uc002fka.1_RNA|ZCCHC14_uc002fkb.2_Missense_Mutation_p.L129M	p.L353M	NM_015144	NP_055959	Q8WYQ9	ZCH14_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0285)	9	1084	-			353					D3DUN1|O60324|Q3MJD8|Q9UFP0	Missense_Mutation	SNP	ENST00000268616.4	37	c.1057C>A	CCDS10961.1	.	.	.	.	.	.	.	.	.	.	G	16.43	3.119982	0.56613	.	.	ENSG00000140948	ENST00000268616	T	0.21734	1.99	5.8	3.86	0.44501	Sterile alpha motif/pointed domain (1);	0.000000	0.64402	D	0.000001	T	0.31482	0.0798	L	0.36672	1.1	0.40357	D	0.979205	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.03051	-1.1078	10	0.33940	T	0.23	-24.2363	8.7767	0.34767	0.2813:0.0:0.7187:0.0	.	353;353	Q8WYQ9-2;Q8WYQ9	.;ZCH14_HUMAN	M	353	ENSP00000268616:L353M	ENSP00000268616:L353M	L	-	1	2	ZCCHC14	86006390	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	2.605000	0.46283	0.822000	0.34565	0.561000	0.74099	CTG		0.423	ZCCHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269107.1	NM_015144	
PRPF8	10594	broad.mit.edu	37	17	1577829	1577829	+	Missense_Mutation	SNP	T	T	C			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr17:1577829T>C	ENST00000572621.1	-	20	3471	c.3206A>G	c.(3205-3207)aAt>aGt	p.N1069S	PRPF8_ENST00000304992.6_Missense_Mutation_p.N1069S			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1069	Reverse transcriptase homology domain.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		GAGAAAGTCATTTGGCATCTG	0.507																																						uc002fte.2																			0		p.N1069D(1)		lung(4)|ovary(2)	6						c.(3205-3207)AAT>AGT		U5 snRNP-specific protein							152.0	147.0	149.0					17																	1577829		2203	4300	6503	SO:0001583	missense	10594					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding	g.chr17:1577829T>C	AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"""PRP8 pre-mRNA processing factor 8 homolog (yeast)"", ""PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"""	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.3206A>G	17.37:g.1577829T>C	ENSP00000460348:p.Asn1069Ser						p.N1069S	NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)	21	3320	-			1069					O14547|O75965	Missense_Mutation	SNP	ENST00000572621.1	37	c.3206A>G	CCDS11010.1	.	.	.	.	.	.	.	.	.	.	T	24.5	4.542697	0.85917	.	.	ENSG00000174231	ENST00000304992	D	0.83591	-1.74	5.25	5.25	0.73442	RNA recognition motif, spliceosomal PrP8 (1);	0.039940	0.85682	D	0.000000	D	0.92211	0.7530	M	0.88310	2.945	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93574	0.6906	10	0.72032	D	0.01	.	15.3304	0.74203	0.0:0.0:0.0:1.0	.	1069	Q6P2Q9	PRP8_HUMAN	S	1069	ENSP00000304350:N1069S	ENSP00000304350:N1069S	N	-	2	0	PRPF8	1524579	1.000000	0.71417	1.000000	0.80357	0.818000	0.46254	7.868000	0.87116	2.212000	0.71576	0.260000	0.18958	AAT		0.507	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2		
ALDH3A1	218	broad.mit.edu	37	17	19644516	19644516	+	Missense_Mutation	SNP	C	C	T	rs140108064	byFrequency	TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr17:19644516C>T	ENST00000457500.2	-	5	1026	c.697G>A	c.(697-699)Gcc>Acc	p.A233T	ALDH3A1_ENST00000494157.2_Missense_Mutation_p.A160T|ALDH3A1_ENST00000485231.1_5'Flank|ALDH3A1_ENST00000395555.3_Missense_Mutation_p.A233T|RP11-311F12.2_ENST00000580884.1_RNA|ALDH3A1_ENST00000444455.1_Missense_Mutation_p.A233T|ALDH3A1_ENST00000225740.6_Missense_Mutation_p.A233T	NM_001135168.1	NP_001128640.1	P30838	AL3A1_HUMAN	aldehyde dehydrogenase 3 family, member A1	233					aging (GO:0007568)|cellular aldehyde metabolic process (GO:0006081)|oxidation-reduction process (GO:0055114)|positive regulation of cell proliferation (GO:0008284)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|alcohol dehydrogenase (NADP+) activity (GO:0008106)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)		TTCCCCCAGGCGATGCGTCTG	0.537													C|||	5	0.000998403	0.0038	0.0	5008	,	,		18964	0.0		0.0	False		,,,				2504	0.0					uc010cqu.2																			0				ovary(1)|pancreas(1)	2						c.(697-699)GCC>ACC		aldehyde dehydrogenase 3A1	NADH(DB00157)	C	THR/ALA,THR/ALA,THR/ALA	9,4397	15.5+/-35.6	0,9,2194	82.0	74.0	77.0		697,697,697	3.2	1.0	17	dbSNP_134	77	0,8600		0,0,4300	yes	missense,missense,missense	ALDH3A1	NM_001135168.1,NM_001135167.1,NM_000691.4	58,58,58	0,9,6494	TT,TC,CC		0.0,0.2043,0.0692	benign,benign,benign	233/454,233/454,233/454	19644516	9,12997	2203	4300	6503	SO:0001583	missense	218				cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase (NAD) activity|aldehyde dehydrogenase	g.chr17:19644516C>T	M74542	CCDS11212.1	17p11.2	2010-05-07	2010-05-07		ENSG00000108602	ENSG00000108602	1.2.1.5	"""Aldehyde dehydrogenases"""	405	protein-coding gene	gene with protein product	"""aldehyde dehydrogenase, dimeric NADP-preferring"""	100660		ALDH3		7774944, 1737758	Standard	NM_000691		Approved		uc010cqu.3	P30838	OTTHUMG00000059469	ENST00000457500.2:c.697G>A	17.37:g.19644516C>T	ENSP00000411821:p.Ala233Thr					ALDH3A1_uc010vzd.1_Missense_Mutation_p.A233T|ALDH3A1_uc002gwj.2_Missense_Mutation_p.A233T|ALDH3A1_uc010cqv.2_Missense_Mutation_p.A233T|ALDH3A1_uc002gwk.2_Missense_Mutation_p.A350T|ALDH3A1_uc002gwl.1_Missense_Mutation_p.A160T	p.A233T	NM_001135168	NP_001128640	P30838	AL3A1_HUMAN		Colorectal(15;0.0829)	5	1027	-	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)		233					A8K828|Q9BT37	Missense_Mutation	SNP	ENST00000457500.2	37	c.697G>A	CCDS11212.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	8.439	0.850297	0.17034	0.002043	0.0	ENSG00000108602	ENST00000225740;ENST00000395555;ENST00000379258;ENST00000444455;ENST00000457500;ENST00000457844;ENST00000439102	T;T;T;T;T	0.76839	-1.05;-1.05;-1.05;-1.05;-1.05	5.47	3.25	0.37280	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.213239	0.49305	N	0.000147	T	0.57110	0.2031	N	0.21097	0.63	0.58432	D	0.999997	B;P;B	0.39883	0.01;0.693;0.01	B;B;B	0.35312	0.034;0.2;0.034	T	0.48592	-0.9022	10	0.16896	T	0.51	-0.7352	6.8307	0.23909	0.0:0.5185:0.0:0.4815	.	233;350;233	A8K828;Q8N9T9;P30838	.;.;AL3A1_HUMAN	T	233;233;291;233;233;160;233	ENSP00000225740:A233T;ENSP00000378923:A233T;ENSP00000388469:A233T;ENSP00000411821:A233T;ENSP00000389766:A233T	ENSP00000225740:A233T	A	-	1	0	ALDH3A1	19585108	0.885000	0.30320	0.961000	0.40146	0.669000	0.39330	1.154000	0.31688	0.667000	0.31107	0.655000	0.94253	GCC		0.537	ALDH3A1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132265.4	NM_000691	
SEZ6	124925	broad.mit.edu	37	17	27287691	27287691	+	Splice_Site	SNP	T	T	A			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr17:27287691T>A	ENST00000317338.12	-	7	1838		c.e7-2		SEZ6_ENST00000442608.3_Splice_Site|PIPOX_ENST00000583215.1_Intron|SEZ6_ENST00000335960.6_Splice_Site|SEZ6_ENST00000360295.9_Splice_Site			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)						adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|negative regulation of dendrite development (GO:2000171)|positive regulation of dendrite development (GO:1900006)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	apical dendrite (GO:0097440)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			ATGATGAGCCTGAACCAGGAG	0.592																																						uc002hdp.2																			0				large_intestine(1)|central_nervous_system(1)	2						c.e7-1		seizure related 6 homolog isoform 1							39.0	45.0	43.0					17																	27287691		2074	4207	6281	SO:0001630	splice_region_variant	124925					integral to membrane|plasma membrane		g.chr17:27287691T>A	AY038048	CCDS45638.1, CCDS45639.1	17q11.2	2008-03-06	2001-11-28		ENSG00000063015	ENSG00000063015			15955	protein-coding gene	gene with protein product			"""seizure related gene 6 (mouse) homolog"""			17086543	Standard	NM_178860		Approved		uc002hdp.2	Q53EL9	OTTHUMG00000168010	ENST00000317338.12:c.1410-2A>T	17.37:g.27287691T>A						SEZ6_uc002hdm.2_Splice_Site|SEZ6_uc010cry.1_Splice_Site_p.R470_splice|SEZ6_uc002hdq.1_Splice_Site_p.R345_splice	p.R470_splice	NM_178860	NP_849191	Q53EL9	SEZ6_HUMAN	Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)		7	1604	-	Lung NSC(42;0.0137)							B6ZDN1|Q8N701|Q8NB57|Q8ND50|Q8TD25|Q96NI5|Q96NQ3	Splice_Site	SNP	ENST00000317338.12	37	c.1410_splice	CCDS45639.1	.	.	.	.	.	.	.	.	.	.	T	18.49	3.636258	0.67130	.	.	ENSG00000063015	ENST00000442608;ENST00000360295;ENST00000317338;ENST00000335960;ENST00000541381;ENST00000539265	.	.	.	4.22	4.22	0.49857	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.5852	0.50914	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	SEZ6	24311817	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.772000	0.68889	1.916000	0.55485	0.254000	0.18369	.		0.592	SEZ6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397475.3		Intron
KRT9	3857	broad.mit.edu	37	17	39724628	39724628	+	Silent	SNP	G	G	A			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr17:39724628G>A	ENST00000246662.4	-	6	1245	c.1180C>T	c.(1180-1182)Ctg>Ttg	p.L394L	KRT9_ENST00000588431.1_Silent_p.L161L	NM_000226.3	NP_000217.2	P35527	K1C9_HUMAN	keratin 9	394	Coil 2.|Rod.				epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				CTCTTCTCCAGAGCTGCTTTC	0.532																																						uc002hxe.3																			0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(1180-1182)CTG>TTG		keratin 9							112.0	112.0	112.0					17																	39724628		2203	4300	6503	SO:0001819	synonymous_variant	3857				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton	g.chr17:39724628G>A		CCDS32654.1	17q21.2	2013-06-20	2008-08-01		ENSG00000171403	ENSG00000171403		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6447	protein-coding gene	gene with protein product	"""cytokeratin 9"", ""type I cytoskeletal 9"", ""epidermolytic palmoplantar keratoderma"""	607606				7512862, 16831889	Standard	NM_000226		Approved	EPPK, K9, CK-9	uc002hxe.4	P35527	OTTHUMG00000133599	ENST00000246662.4:c.1180C>T	17.37:g.39724628G>A						JUP_uc010wfs.1_Intron	p.L394L	NM_000226	NP_000217	P35527	K1C9_HUMAN			6	1246	-		Breast(137;0.000307)	394			Rod.|Coil 2.		O00109|Q0IJ47|Q14665	Silent	SNP	ENST00000246662.4	37	c.1180C>T	CCDS32654.1																																																																																				0.532	KRT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257707.1	NM_000226	
C19orf40	91442	broad.mit.edu	37	19	33464993	33464993	+	Missense_Mutation	SNP	G	G	A	rs562557952		TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr19:33464993G>A	ENST00000588258.1	+	4	381	c.271G>A	c.(271-273)Gtt>Att	p.V91I	C19orf40_ENST00000590179.1_De_novo_Start_OutOfFrame|C19orf40_ENST00000589646.1_De_novo_Start_OutOfFrame|CEP89_ENST00000305768.5_5'Flank|CEP89_ENST00000591863.1_5'Flank|C19orf40_ENST00000590281.1_Missense_Mutation_p.V91I|CEP89_ENST00000590597.2_5'Flank	NM_152266.3	NP_689479.1	Q9BTP7	FAP24_HUMAN	chromosome 19 open reading frame 40	91					DNA repair (GO:0006281)	Fanconi anaemia nuclear complex (GO:0043240)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7	Esophageal squamous(110;0.137)					AATTGTAGTCGTTGAAAAAAC	0.418								Direct reversal of damage																														uc002nud.3																			0					0						c.(271-273)GTT>ATT	Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi anemia-associated protein, 24 kDa							77.0	73.0	74.0					19																	33464993		2203	4300	6503	SO:0001583	missense	91442				DNA repair	Fanconi anaemia nuclear complex	chromatin binding|DNA binding|protein binding	g.chr19:33464993G>A	AK128668	CCDS12426.1, CCDS74327.1	19q13.11	2011-11-24			ENSG00000131944	ENSG00000131944			28467	protein-coding gene	gene with protein product	"""Fanconi anemia-associated protein, 24kDa"""	610884				17289582	Standard	XM_005259393		Approved	FLJ46828, MGC32020, FAAP24	uc002nud.4	Q9BTP7		ENST00000588258.1:c.271G>A	19.37:g.33464993G>A	ENSP00000466121:p.Val91Ile					CCDC123_uc002nty.2_5'Flank|CCDC123_uc010edg.2_5'Flank|CCDC123_uc002ntz.1_5'Flank|CCDC123_uc002nua.2_5'Flank|CCDC123_uc002nuc.1_5'Flank	p.V91I	NM_152266	NP_689479	Q9BTP7	FAP24_HUMAN			4	389	+	Esophageal squamous(110;0.137)		91					B3KY46|Q8WUJ7|Q96FX6	Missense_Mutation	SNP	ENST00000588258.1	37	c.271G>A	CCDS12426.1	.	.	.	.	.	.	.	.	.	.	G	17.40	3.379589	0.61845	.	.	ENSG00000131944	ENST00000254262	.	.	.	4.81	3.75	0.43078	.	0.056799	0.64402	D	0.000001	T	0.44435	0.1293	M	0.69823	2.125	0.35104	D	0.76554	P	0.52316	0.952	B	0.35413	0.202	T	0.58578	-0.7612	9	0.11485	T	0.65	-8.0328	14.2423	0.65966	0.0:0.0:0.8495:0.1505	.	91	Q9BTP7	FAP24_HUMAN	I	91	.	ENSP00000254262:V91I	V	+	1	0	C19orf40	38156833	1.000000	0.71417	0.773000	0.31616	0.644000	0.38419	9.004000	0.93583	1.125000	0.41998	0.467000	0.42956	GTT		0.418	C19orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450823.2	NM_152266	
DMRTC2	63946	broad.mit.edu	37	19	42352997	42352997	+	Silent	SNP	C	C	T			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr19:42352997C>T	ENST00000269945.3	+	5	633	c.582C>T	c.(580-582)tgC>tgT	p.C194C	DMRTC2_ENST00000596827.1_Silent_p.C194C	NM_001040283.1	NP_001035373.1	Q8IXT2	DMRTD_HUMAN	DMRT-like family C2	194	Pro-rich.				male meiosis I (GO:0007141)|positive regulation of histone H3-K9 dimethylation (GO:1900111)|positive regulation of histone H3-K9 trimethylation (GO:1900114)|sex differentiation (GO:0007548)|spermatid nucleus elongation (GO:0007290)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|XY body (GO:0001741)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	10						CAGTGGTGTGCCGCCTGCTGT	0.567																																						uc002ors.2																			0					0						c.(580-582)TGC>TGT		DMRT-like family C2							95.0	94.0	94.0					19																	42352997		2203	4300	6503	SO:0001819	synonymous_variant	63946				cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr19:42352997C>T	AJ291669	CCDS33034.1	19q13.2	2008-07-16				ENSG00000142025			13911	protein-coding gene	gene with protein product		614806				11863363	Standard	NM_001040283		Approved		uc002ors.3	Q8IXT2		ENST00000269945.3:c.582C>T	19.37:g.42352997C>T						DMRTC2_uc002orr.1_Silent_p.C71C|DMRTC2_uc010xwe.1_Silent_p.C194C	p.C194C	NM_001040283	NP_001035373	Q8IXT2	DMRTD_HUMAN			5	665	+			194			Pro-rich.		Q8N6Q2|Q96M39|Q96SD4	Silent	SNP	ENST00000269945.3	37	c.582C>T	CCDS33034.1																																																																																				0.567	DMRTC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463045.1	NM_001040283	
FBXO41	150726	broad.mit.edu	37	2	73493658	73493658	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr2:73493658G>A	ENST00000521871.1	-	3	1473	c.1058C>T	c.(1057-1059)aCg>aTg	p.T353M	FBXO41_ENST00000520530.2_Missense_Mutation_p.T353M|FBXO41_ENST00000295133.5_Missense_Mutation_p.T414M			Q8TF61	FBX41_HUMAN	F-box protein 41	353										breast(2)|central_nervous_system(1)|endometrium(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)	13						GGCGCTGGGCGTGCTGCCACA	0.692																																						uc002sjb.1																			0				breast(2)|pancreas(1)	3						c.(1240-1242)ACG>ATG		F-box protein 41							9.0	12.0	11.0					2																	73493658		1931	4031	5962	SO:0001583	missense	150726					intracellular	protein binding|zinc ion binding	g.chr2:73493658G>A	AB075820	CCDS46337.1, CCDS46337.2	2p13.2	2004-08-24				ENSG00000163013		"""F-boxes /  ""other"""""	29409	protein-coding gene	gene with protein product		609108				11853319	Standard	NM_001080410		Approved	KIAA1940, Fbx41	uc021vjh.1	Q8TF61		ENST00000521871.1:c.1058C>T	2.37:g.73493658G>A	ENSP00000428646:p.Thr353Met						p.T414M	NM_001080410	NP_001073879	Q8TF61	FBX41_HUMAN			3	1241	-			353					G3V0Z7|Q2M1V8	Missense_Mutation	SNP	ENST00000521871.1	37	c.1241C>T	CCDS46337.2	.	.	.	.	.	.	.	.	.	.	G	26.7	4.764828	0.90020	.	.	ENSG00000163013	ENST00000295133;ENST00000521871;ENST00000520530	.	.	.	5.24	5.24	0.73138	.	0.102711	0.64402	D	0.000003	T	0.75170	0.3813	L	0.50333	1.59	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.77324	-0.2630	9	0.72032	D	0.01	.	17.3622	0.87354	0.0:0.0:1.0:0.0	.	353	Q8TF61	FBX41_HUMAN	M	414;353;414	.	ENSP00000295133:T414M	T	-	2	0	FBXO41	73347166	1.000000	0.71417	0.954000	0.39281	0.962000	0.63368	9.027000	0.93706	2.439000	0.82584	0.453000	0.30009	ACG		0.692	FBXO41-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377381.1		
SCN7A	6332	broad.mit.edu	37	2	167328840	167328840	+	Missense_Mutation	SNP	C	C	T	rs557709889	byFrequency	TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr2:167328840C>T	ENST00000409855.1	-	5	685	c.559G>A	c.(559-561)Gta>Ata	p.V187I		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	187					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.V187I(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	AACACAGTTACGCTGAAATCG	0.338													C|||	2	0.000399361	0.0	0.0	5008	,	,		16604	0.0		0.0	False		,,,				2504	0.002					uc002udu.1																			2	Substitution - Missense(2)		endometrium(2)	large_intestine(1)	1						c.(559-561)GTA>ATA		sodium channel, voltage-gated, type VII, alpha							44.0	43.0	43.0					2																	167328840		1884	4143	6027	SO:0001583	missense	6332				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167328840C>T	M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10594	protein-coding gene	gene with protein product		182392	"""sodium channel, voltage-gated, type VI, alpha"", ""sodium channel, voltage-gated, type VII, alpha"""	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.559G>A	2.37:g.167328840C>T	ENSP00000386796:p.Val187Ile					SCN7A_uc010fpm.1_RNA	p.V187I	NM_002976	NP_002967	Q01118	SCN7A_HUMAN			5	686	-			187			Helical; Name=S3 of repeat I; (By similarity).			Missense_Mutation	SNP	ENST00000409855.1	37	c.559G>A	CCDS46442.1	.	.	.	.	.	.	.	.	.	.	C	16.15	3.040349	0.55003	.	.	ENSG00000136546	ENST00000409855;ENST00000259060;ENST00000419992;ENST00000441411	D;D;D	0.98567	-5.0;-5.0;-5.0	5.37	1.54	0.23209	Ion transport (1);	0.382752	0.21813	N	0.068736	D	0.95449	0.8522	L	0.53780	1.695	0.30392	N	0.780945	P	0.41784	0.762	B	0.36464	0.225	D	0.91620	0.5310	10	0.28530	T	0.3	.	10.2854	0.43564	0.0:0.7071:0.0:0.2929	.	187	Q01118	SCN7A_HUMAN	I	187	ENSP00000386796:V187I;ENSP00000413699:V187I;ENSP00000403846:V187I	ENSP00000259060:V187I	V	-	1	0	SCN7A	167037086	0.863000	0.29885	0.942000	0.38095	0.559000	0.35586	1.372000	0.34261	0.349000	0.23975	-0.783000	0.03347	GTA		0.338	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1		
CD93	22918	broad.mit.edu	37	20	23065459	23065459	+	Silent	SNP	G	G	A			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr20:23065459G>A	ENST00000246006.4	-	1	1518	c.1371C>T	c.(1369-1371)ggC>ggT	p.G457G		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	457	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				macrophage activation (GO:0042116)|phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|complement component C1q binding (GO:0001849)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CCAGCACCCAGCCTGGCAGGC	0.632																																						uc002wsv.2																			0				large_intestine(2)	2						c.(1369-1371)GGC>GGT		CD93 antigen precursor							36.0	45.0	42.0					20																	23065459		2197	4297	6494	SO:0001819	synonymous_variant	22918				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding	g.chr20:23065459G>A	U94333	CCDS13149.1	20p11.21	2009-01-29	2006-03-28	2006-02-22	ENSG00000125810	ENSG00000125810		"""CD molecules"""	15855	protein-coding gene	gene with protein product		120577	"""matrix-remodelling associated 4"", ""complement component 1, q subcomponent, receptor 1"", ""CD93 antigen"""	MXRA4, C1QR1		9047234, 10648005	Standard	NM_012072		Approved	C1qRP, C1qR(P), dJ737E23.1, CDw93, ECSM3	uc002wsv.3	Q9NPY3	OTTHUMG00000032058	ENST00000246006.4:c.1371C>T	20.37:g.23065459G>A							p.G457G	NM_012072	NP_036204	Q9NPY3	C1QR1_HUMAN			1	1519	-	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)		457			Extracellular (Potential).|EGF-like 5; calcium-binding (Potential).		O00274	Silent	SNP	ENST00000246006.4	37	c.1371C>T	CCDS13149.1																																																																																				0.632	CD93-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078312.2	NM_012072	
TOP1	7150	broad.mit.edu	37	20	39704846	39704848	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr20:39704846_39704848delAGG	ENST00000361337.2	+	4	441_443	c.191_193delAGG	c.(190-195)aaggag>aag	p.E65del		NM_003286.2	NP_003277.1	P11387	TOP1_HUMAN	topoisomerase (DNA) I	65	Lys-rich.				chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|DNA topological change (GO:0006265)|embryonic cleavage (GO:0040016)|phosphorylation (GO:0016310)|programmed cell death (GO:0012501)|response to drug (GO:0042493)|viral process (GO:0016032)	cytoplasmic mRNA processing body (GO:0000932)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perikaryon (GO:0043204)|replication fork protection complex (GO:0031298)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|poly(A) RNA binding (GO:0044822)			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(115;0.00878)			Irinotecan(DB00762)|Lucanthone(DB04967)|Sodium stibogluconate(DB05630)|Topotecan(DB01030)	cacaaagagaaggagaagaccaa	0.374			T	NUP98	AML*																																	uc002xjl.2				Dom	yes		20	20q12-q13.1	7150	T	topoisomerase (DNA) I			L	NUP98		AML*		0				breast(3)|ovary(2)|central_nervous_system(1)|kidney(1)	7						c.(190-195)AAGGAG>AAG		DNA topoisomerase I	Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030)																																			SO:0001651	inframe_deletion	7150				DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug	chromosome|nucleolus|nucleoplasm	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|protein binding	g.chr20:39704846_39704848delAGG		CCDS13312.1	20q12-q13.1	1990-06-22			ENSG00000198900	ENSG00000198900	5.99.1.2		11986	protein-coding gene	gene with protein product		126420					Standard	NM_003286		Approved		uc010ggd.1	P11387	OTTHUMG00000033057	ENST00000361337.2:c.191_193delAGG	20.37:g.39704846_39704848delAGG	ENSP00000354522:p.Glu65del					TOP1_uc010gge.1_RNA	p.E65del	NM_003286	NP_003277	P11387	TOP1_HUMAN			4	437_439	+		Myeloproliferative disorder(115;0.00878)	65			Lys-rich.		A8KA78|E1P5W3|O43256|Q12855|Q12856|Q15610|Q5TFY3|Q9UJN0	In_Frame_Del	DEL	ENST00000361337.2	37	c.191_193delAGG	CCDS13312.1																																																																																				0.374	TOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080397.2		
DCLK3	85443	broad.mit.edu	37	3	36779849	36779850	+	Frame_Shift_Ins	INS	-	-	C			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr3:36779849_36779850insC	ENST00000416516.2	-	2	791_792	c.301_302insG	c.(301-303)gagfs	p.E101fs		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	101						cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.E101*(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						GGGTTCTGGCTCCCATTTCCCC	0.589																																						uc003cgi.2																			1	Substitution - Nonsense(1)		lung(1)	lung(3)|large_intestine(2)|breast(1)|skin(1)|ovary(1)|kidney(1)	9						c.(301-303)GAGfs		doublecortin-like kinase 3																																				SO:0001589	frameshift_variant	85443					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	g.chr3:36779849_36779850insC	AB051552	CCDS43064.1	3p22.3	2007-04-02	2007-04-02	2007-04-02	ENSG00000163673	ENSG00000163673			19005	protein-coding gene	gene with protein product		613167	"""doublecortin and CaM kinase-like 3"""	DCAMKL3		11214970, 16869982	Standard	NM_033403		Approved	KIAA1765, DCDC3C	uc003cgi.2	Q9C098	OTTHUMG00000155805	ENST00000416516.2:c.302dupG	3.37:g.36779852_36779852dupC	ENSP00000394484:p.Glu101fs						p.E101fs	NM_033403	NP_208382	Q9C098	DCLK3_HUMAN			2	792_793	-			101						Frame_Shift_Ins	INS	ENST00000416516.2	37	c.301_302insG	CCDS43064.1																																																																																				0.589	DCLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341727.1	XM_047355	
SLCO2A1	6578	broad.mit.edu	37	3	133653573	133653573	+	Missense_Mutation	SNP	G	G	A	rs142805553	byFrequency	TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr3:133653573G>A	ENST00000310926.4	-	14	2189	c.1916C>T	c.(1915-1917)gCg>gTg	p.A639V	SLCO2A1_ENST00000493729.1_Missense_Mutation_p.A563V	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	639					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)	GAGGCCTGCCGCCTTCTGCAC	0.567																																						uc003eqa.3																			0				central_nervous_system(1)	1						c.(1915-1917)GCG>GTG		solute carrier organic anion transporter family,		G	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	123.0	105.0	111.0		1916	4.6	0.7	3	dbSNP_134	111	2,8598	2.2+/-6.3	0,2,4298	yes	missense	SLCO2A1	NM_005630.2	64	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	benign	639/644	133653573	3,13003	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.chr3:133653573G>A		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.1916C>T	3.37:g.133653573G>A	ENSP00000311291:p.Ala639Val					SLCO2A1_uc003eqb.3_Missense_Mutation_p.A563V	p.A639V	NM_005630	NP_005621	Q92959	SO2A1_HUMAN			14	2190	-			639			Cytoplasmic (Potential).		Q86V98|Q8IUN2	Missense_Mutation	SNP	ENST00000310926.4	37	c.1916C>T	CCDS3084.1	.	.	.	.	.	.	.	.	.	.	G	13.42	2.231875	0.39399	2.27E-4	2.33E-4	ENSG00000174640	ENST00000310926;ENST00000493729	T;T	0.54479	1.08;0.57	5.51	4.63	0.57726	.	1.564600	0.06327	U	0.705519	T	0.35595	0.0937	N	0.14661	0.345	0.35880	D	0.828915	P;P	0.45428	0.614;0.858	B;B	0.32583	0.057;0.148	T	0.25606	-1.0127	10	0.39692	T	0.17	.	13.2497	0.60045	0.0:0.0:0.7112:0.2888	.	563;639	E7EU40;Q92959	.;SO2A1_HUMAN	V	639;563	ENSP00000311291:A639V;ENSP00000418893:A563V	ENSP00000311291:A639V	A	-	2	0	SLCO2A1	135136263	1.000000	0.71417	0.746000	0.31095	0.225000	0.24961	2.447000	0.44917	1.328000	0.45358	-0.268000	0.10319	GCG		0.567	SLCO2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357131.1	NM_005630	
DNAJC19	131118	broad.mit.edu	37	3	180705861	180705861	+	Missense_Mutation	SNP	T	T	C			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr3:180705861T>C	ENST00000382564.2	-	3	249	c.79A>G	c.(79-81)Aag>Gag	p.K27E	DNAJC19_ENST00000486355.1_Missense_Mutation_p.K27E|DNAJC19_ENST00000479269.1_Missense_Mutation_p.K2E|DNAJC19_ENST00000491873.1_Missense_Mutation_p.K2E	NM_145261.3	NP_660304.1	Q96DA6	TIM14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 19	27					cellular protein metabolic process (GO:0044267)|genitalia development (GO:0048806)|protein folding (GO:0006457)|protein targeting to mitochondrion (GO:0006626)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)				large_intestine(2)|lung(1)	3	all_cancers(143;3.12e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-36)|OV - Ovarian serous cystadenocarcinoma(80;1.55e-22)			TCCATATGCTTCATGGCTTGC	0.388																																						uc003fkt.2																			0					0						c.(79-81)AAG>GAG		DnaJ homolog, subfamily C, member 19							94.0	91.0	92.0					3																	180705861		2203	4300	6503	SO:0001583	missense	131118				genitalia development|protein folding|protein targeting to mitochondrion|transmembrane transport|visual perception	integral to membrane|mitochondrial inner membrane	heat shock protein binding	g.chr3:180705861T>C		CCDS33895.1, CCDS54684.1	3q26.33	2014-09-17			ENSG00000205981	ENSG00000205981		"""Heat shock proteins / DNAJ (HSP40)"""	30528	protein-coding gene	gene with protein product		608977				19564938	Standard	NM_145261		Approved	TIMM14, Tim14, Pam18	uc003fkt.3	Q96DA6	OTTHUMG00000158180	ENST00000382564.2:c.79A>G	3.37:g.180705861T>C	ENSP00000372005:p.Lys27Glu					DNAJC19_uc003fku.2_RNA	p.K27E	NM_145261	NP_660304	Q96DA6	TIM14_HUMAN	Epithelial(37;3.05e-36)|OV - Ovarian serous cystadenocarcinoma(80;1.55e-22)		3	219	-	all_cancers(143;3.12e-14)|Ovarian(172;0.0212)		27			Mitochondrial matrix (Potential).		B2R4B1|C9JBV1	Missense_Mutation	SNP	ENST00000382564.2	37	c.79A>G	CCDS33895.1	.	.	.	.	.	.	.	.	.	.	T	25.5	4.644177	0.87859	.	.	ENSG00000205981	ENST00000382564;ENST00000491873;ENST00000479269	.	.	.	5.62	5.62	0.85841	.	0.041718	0.85682	D	0.000000	T	0.60663	0.2286	L	0.61387	1.9	0.58432	D	0.999999	D	0.58268	0.982	P	0.48815	0.591	T	0.59506	-0.7442	9	0.26408	T	0.33	-7.3075	13.348	0.60584	0.0:0.0:0.0:1.0	.	27	Q96DA6	TIM14_HUMAN	E	27;2;2	.	ENSP00000372005:K27E	K	-	1	0	DNAJC19	182188555	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.283000	0.72646	2.140000	0.66376	0.459000	0.35465	AAG		0.388	DNAJC19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350336.1	NM_145261	
LINC00969	440993	broad.mit.edu	37	3	195400728	195400728	+	lincRNA	SNP	A	A	G	rs12107841	byFrequency	TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr3:195400728A>G	ENST00000445430.1	+	0	1324									long intergenic non-protein coding RNA 969																		GATTGTGCCCAGCCTGTACGC	0.587																																						uc003fuw.2																			0					0						c.(22-24)CCA>CCG		SubName: Full=cDNA FLJ16373 fis, clone THYMU3000269, highly similar to Succinate dehydrogenase (ubiquinone) flavoprotein subunit, mitochondrial (EC 1.3.5.1);																																						727956							g.chr3:195400728A>G	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195400728A>G						SDHAP2_uc011btb.1_Missense_Mutation_p.S156G|SDHAP2_uc011btc.1_RNA|SDHAP2_uc003fuv.2_RNA	p.P8P							9	1218	+									Silent	SNP	ENST00000445430.1	37	c.24A>G																																																																																					0.587	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1		
LGI2	55203	broad.mit.edu	37	4	25014080	25014080	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr4:25014080C>T	ENST00000382114.4	-	7	882	c.697G>A	c.(697-699)Gtg>Atg	p.V233M		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	233						extracellular region (GO:0005576)				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				AACGTATCCACTGAAACCGAC	0.453																																						uc003grf.2																			0					0						c.(697-699)GTG>ATG		leucine-rich repeat LGI family, member 2							120.0	107.0	111.0					4																	25014080		2203	4300	6503	SO:0001583	missense	55203					extracellular region		g.chr4:25014080C>T	AJ487516	CCDS3431.1	4p15.31	2008-07-28			ENSG00000153012	ENSG00000153012			18710	protein-coding gene	gene with protein product		608301				12023020, 16014869	Standard	NM_018176		Approved	KIAA1916, FLJ10675	uc003grf.2	Q8N0V4	OTTHUMG00000097749	ENST00000382114.4:c.697G>A	4.37:g.25014080C>T	ENSP00000371548:p.Val233Met						p.V233M	NM_018176	NP_060646	Q8N0V4	LGI2_HUMAN			7	796	-		Breast(46;0.173)	233			EAR 1.		Q3MIN2|Q8NDW6|Q96PX2|Q9NVK4	Missense_Mutation	SNP	ENST00000382114.4	37	c.697G>A	CCDS3431.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.407289	0.83230	.	.	ENSG00000153012	ENST00000382114	D	0.83673	-1.75	4.81	4.81	0.61882	.	0.060817	0.64402	D	0.000005	D	0.89849	0.6834	M	0.61703	1.905	0.58432	D	0.99999	D	0.76494	0.999	D	0.74348	0.983	D	0.90942	0.4798	10	0.72032	D	0.01	-23.9359	18.2456	0.89984	0.0:1.0:0.0:0.0	.	233	Q8N0V4	LGI2_HUMAN	M	233	ENSP00000371548:V233M	ENSP00000371548:V233M	V	-	1	0	LGI2	24623178	1.000000	0.71417	0.989000	0.46669	0.989000	0.77384	5.858000	0.69532	2.373000	0.80994	0.555000	0.69702	GTG		0.453	LGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214978.1		
DCHS2	54798	broad.mit.edu	37	4	155219629	155219629	+	Missense_Mutation	SNP	G	G	T			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr4:155219629G>T	ENST00000357232.4	-	18	4471	c.4472C>A	c.(4471-4473)gCt>gAt	p.A1491D		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1491	Cadherin 13. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TCCCACTTCAGCATCTTCTCT	0.463																																						uc003inw.2																			0				ovary(3)|pancreas(1)	4						c.(4471-4473)GCT>GAT		dachsous 2 isoform 1							144.0	146.0	146.0					4																	155219629		2203	4300	6503	SO:0001583	missense	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155219629G>T	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.4472C>A	4.37:g.155219629G>T	ENSP00000349768:p.Ala1491Asp						p.A1491D	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	18	4472	-	all_hematologic(180;0.208)	Renal(120;0.0854)	1491			Cadherin 13.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	c.4472C>A	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	G	13.79	2.342313	0.41498	.	.	ENSG00000197410	ENST00000357232	T	0.56275	0.47	5.76	2.64	0.31445	Cadherin (3);Cadherin-like (1);	0.589951	0.15920	N	0.238180	T	0.62441	0.2428	M	0.85041	2.73	0.31738	N	0.63616	P	0.50369	0.934	P	0.52758	0.708	T	0.65417	-0.6173	10	0.40728	T	0.16	.	5.418	0.16384	0.5068:0.0:0.4932:0.0	.	1491	Q6V1P9	PCD23_HUMAN	D	1491	ENSP00000349768:A1491D	ENSP00000349768:A1491D	A	-	2	0	DCHS2	155439079	0.852000	0.29690	0.184000	0.23157	0.985000	0.73830	2.590000	0.46154	0.902000	0.36520	0.650000	0.86243	GCT		0.463	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552	
SLC6A19	340024	broad.mit.edu	37	5	1214110	1214110	+	Missense_Mutation	SNP	G	G	A	rs373991930		TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr5:1214110G>A	ENST00000304460.10	+	6	873	c.817G>A	c.(817-819)Gca>Aca	p.A273T		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	273					amino acid transport (GO:0006865)|ion transport (GO:0006811)|response to nutrient (GO:0007584)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|neutral amino acid transmembrane transporter activity (GO:0015175)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GGACGCGGGCGCACAGGTCTT	0.647																																						uc003jbw.3																			0					0						c.(817-819)GCA>ACA		solute carrier family 6, member 19		G	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	92.0	90.0	91.0		817	3.2	0.2	5		91	0,8600		0,0,4300	no	missense	SLC6A19	NM_001003841.2	58	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	273/635	1214110	1,13005	2203	4300	6503	SO:0001583	missense	340024				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr5:1214110G>A	AK096054	CCDS34130.1	5p15	2013-07-19			ENSG00000174358	ENSG00000174358		"""Solute carriers"""	27960	protein-coding gene	gene with protein product	"""Hartnup disease"""	608893					Standard	NM_001003841		Approved		uc003jbw.4	Q695T7	OTTHUMG00000161636	ENST00000304460.10:c.817G>A	5.37:g.1214110G>A	ENSP00000305302:p.Ala273Thr						p.A273T	NM_001003841	NP_001003841	Q695T7	S6A19_HUMAN	Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		6	873	+	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		273			Helical; Name=6; (Potential).		A8K446	Missense_Mutation	SNP	ENST00000304460.10	37	c.817G>A	CCDS34130.1	.	.	.	.	.	.	.	.	.	.	G	3.003	-0.205525	0.06180	2.27E-4	0.0	ENSG00000174358	ENST00000304460	T	0.73047	-0.71	4.96	3.18	0.36537	.	0.268254	0.42294	N	0.000722	T	0.38374	0.1038	N	0.02379	-0.575	0.54753	D	0.999985	B	0.12013	0.005	B	0.16289	0.015	T	0.36261	-0.9755	10	0.02654	T	1	.	10.1766	0.42941	0.1631:0.0:0.8369:0.0	.	273	Q695T7	S6A19_HUMAN	T	273	ENSP00000305302:A273T	ENSP00000305302:A273T	A	+	1	0	SLC6A19	1267110	1.000000	0.71417	0.206000	0.23566	0.524000	0.34500	3.714000	0.54889	0.509000	0.28195	0.491000	0.48974	GCA		0.647	SLC6A19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365557.1	XM_291120	
SLC6A3	6531	broad.mit.edu	37	5	1403128	1403128	+	Missense_Mutation	SNP	G	G	A	rs28364997		TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr5:1403128G>A	ENST00000270349.9	-	13	1803	c.1676C>T	c.(1675-1677)gCg>gTg	p.A559V	SLC6A3_ENST00000453492.2_Missense_Mutation_p.A559V	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	559					adenohypophysis development (GO:0021984)|aging (GO:0007568)|cation transmembrane transport (GO:0098655)|cell death (GO:0008219)|dopamine biosynthetic process (GO:0042416)|dopamine catabolic process (GO:0042420)|dopamine transport (GO:0015872)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|neurotransmitter biosynthetic process (GO:0042136)|positive regulation of multicellular organism growth (GO:0040018)|prepulse inhibition (GO:0060134)|regulation of dopamine metabolic process (GO:0042053)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|sensory perception of smell (GO:0007608)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine transmembrane transporter activity (GO:0005329)|dopamine:sodium symporter activity (GO:0005330)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Benzatropine(DB00245)|Benzphetamine(DB00865)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Cocaine(DB00907)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Diphenylpyraline(DB01146)|Dopamine(DB00988)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fencamfamine(DB01463)|Imipramine(DB00458)|Ioflupane I 123(DB08824)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Pethidine(DB00454)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Trimipramine(DB00726)|Venlafaxine(DB00285)	CCAGCCCAGCGCGTTGGCCCA	0.602													g|||	1	0.000199681	0.0	0.0	5008	,	,		15887	0.0		0.001	False		,,,				2504	0.0					uc003jck.2																			0				ovary(3)|breast(2)|pancreas(1)	6	GRCh37	CM005507	SLC6A3	M	rs28364997	c.(1675-1677)GCG>GTG		solute carrier family 6 (neurotransmitter	Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)		VAL/ALA	2,4404	4.2+/-10.8	0,2,2201	76.0	62.0	67.0		1676	-1.3	0.5	5	dbSNP_125	67	7,8593	5.7+/-21.5	0,7,4293	yes	missense	SLC6A3	NM_001044.4	64	0,9,6494	AA,AG,GG		0.0814,0.0454,0.0692	benign	559/621	1403128	9,12997	2203	4300	6503	SO:0001583	missense	6531				cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body		g.chr5:1403128G>A		CCDS3863.1	5p15.3	2013-07-19	2013-07-19		ENSG00000142319	ENSG00000142319		"""Solute carriers"""	11049	protein-coding gene	gene with protein product	"""dopamine transporter"""	126455	"""solute carrier family 6 (neurotransmitter transporter, dopamine), member 3"", ""dopamine transporter 1"""	DAT1		1406597	Standard	NM_001044		Approved	DAT	uc003jck.3	Q01959	OTTHUMG00000131016	ENST00000270349.9:c.1676C>T	5.37:g.1403128G>A	ENSP00000270349:p.Ala559Val						p.A559V	NM_001044	NP_001035	Q01959	SC6A3_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		13	1797	-			559					A2RUN4|Q14996	Missense_Mutation	SNP	ENST00000270349.9	37	c.1676C>T	CCDS3863.1	.	.	.	.	.	.	.	.	.	.	g	8.703	0.910176	0.17833	4.54E-4	8.14E-4	ENSG00000142319	ENST00000270349;ENST00000453492	T;T	0.73575	-0.76;-0.76	4.18	-1.28	0.09318	.	0.231402	0.42821	N	0.000647	T	0.44829	0.1312	N	0.04880	-0.145	0.27500	N	0.952011	B	0.02656	0.0	B	0.06405	0.002	T	0.32771	-0.9894	10	0.12103	T	0.63	.	8.6202	0.33855	0.7515:0.0:0.2485:0.0	rs28364997	559	Q01959	SC6A3_HUMAN	V	559	ENSP00000270349:A559V;ENSP00000399806:A559V	ENSP00000270349:A559V	A	-	2	0	SLC6A3	1456128	0.259000	0.24043	0.457000	0.27056	0.819000	0.46315	0.856000	0.27818	-0.279000	0.09167	0.298000	0.19748	GCG		0.602	SLC6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253650.3	NM_001044	
ADAMTS12	81792	broad.mit.edu	37	5	33576573	33576573	+	Silent	SNP	G	G	A	rs181608167		TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr5:33576573G>A	ENST00000504830.1	-	19	3893	c.3558C>T	c.(3556-3558)gaC>gaT	p.D1186D	ADAMTS12_ENST00000504582.1_5'Flank|ADAMTS12_ENST00000352040.3_Silent_p.D1101D	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1186	Spacer 2.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CCACTGGAGCGTCATTTCCAG	0.498										HNSCC(64;0.19)			G|||	1	0.000199681	0.0	0.0	5008	,	,		21105	0.001		0.0	False		,,,				2504	0.0					uc003jia.1																			0				ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						c.(3556-3558)GAC>GAT		ADAM metallopeptidase with thrombospondin type 1							205.0	186.0	193.0					5																	33576573		2203	4300	6503	SO:0001819	synonymous_variant	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33576573G>A	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.3558C>T	5.37:g.33576573G>A		HNSCC(64;0.19)				ADAMTS12_uc010iuq.1_Silent_p.D1101D	p.D1186D	NM_030955	NP_112217	P58397	ATS12_HUMAN			19	3721	-			1186			Spacer 2.		A2RRN9|A5D6V6|Q6UWL3	Silent	SNP	ENST00000504830.1	37	c.3558C>T	CCDS34140.1																																																																																				0.498	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955	
HIST1H4G	8369	broad.mit.edu	37	6	26247188	26247188	+	Silent	SNP	C	C	T			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr6:26247188C>T	ENST00000244537.4	-	1	71	c.18G>A	c.(16-18)aaG>aaA	p.K6K		NM_003547.2	NP_003538.1	Q99525	H4G_HUMAN	histone cluster 1, H4g	6						nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				CTTTTCCGGCCTTGCCCCGAA	0.483																																						uc003nhf.2																			0					0						c.(16-18)AAG>AAA		histone cluster 1, H4g							41.0	39.0	40.0					6																	26247188		2203	4300	6503	SO:0001819	synonymous_variant	8369				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26247188C>T	Z80788	CCDS4599.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000124578	ENSG00000275663		"""Histones / Replication-dependent"""	4792	protein-coding gene	gene with protein product		602832	"""H4 histone family, member L"", ""histone 1, H4g"""	H4FL		9119399, 12408966	Standard	NM_003547		Approved	H4/l	uc003nhf.3	Q99525	OTTHUMG00000014444	ENST00000244537.4:c.18G>A	6.37:g.26247188C>T							p.K6K	NM_003547	NP_003538	Q99525	H4G_HUMAN			1	18	-		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)	6						Silent	SNP	ENST00000244537.4	37	c.18G>A	CCDS4599.1																																																																																				0.483	HIST1H4G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040107.1	NM_003547	
MOG	4340	broad.mit.edu	37	6	29641134	29641134	+	IGR	SNP	C	C	T			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr6:29641134C>T	ENST00000376917.3	+	0	2160				ZFP57_ENST00000376881.3_Missense_Mutation_p.V232I|ZFP57_ENST00000376883.1_Missense_Mutation_p.V232I|ZFP57_ENST00000488757.1_Missense_Mutation_p.V252I	NM_002433.4|NM_206809.3	NP_002424.3|NP_996532.2	Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein						cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|positive regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034126)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						CCCAGATGGACGCGGCGGTGA	0.557																																						uc011dlw.1																			0				ovary(3)|skin(2)	5						c.(754-756)GTC>ATC		zinc finger protein 57 homolog							82.0	91.0	88.0					6																	29641134		1350	2604	3954	SO:0001628	intergenic_variant	346171				DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding	g.chr6:29641134C>T		CCDS4667.1, CCDS34366.1, CCDS34367.1, CCDS34368.1, CCDS34369.1, CCDS34370.1, CCDS47394.1, CCDS47395.1, CCDS47395.2, CCDS54977.1	6p22.1	2014-01-16			ENSG00000204655	ENSG00000204655		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	7197	protein-coding gene	gene with protein product		159465					Standard	NM_002433		Approved	BTN6, BTNL11	uc003nne.3	Q16653	OTTHUMG00000031099		6.37:g.29641134C>T						ZFP57_uc003nnl.3_Missense_Mutation_p.V232I	p.V252I	NM_001109809	NP_001103279	Q9NU63	ZFP57_HUMAN			4	905	-			168			C2H2-type 3.		A6NDR4|A6NNJ9|A8MY31|B0UZR9|E9PGF0|F8W9D5|O00713|O00714|O00715|Q13054|Q13055|Q14855|Q29ZN8|Q56UY0|Q5JNX7|Q5JNY1|Q5JNY2|Q5JNY4|Q5SSB5|Q5SSB6|Q5STL9|Q5STM0|Q5STM1|Q5STM2|Q5STM5|Q5SUK5|Q5SUK7|Q5SUK8|Q5SUK9|Q5SUL0|Q5SUL1|Q8IYG5|Q92891|Q92892|Q92893|Q92894|Q92895|Q93053|Q96KU9|Q96KV0|Q96KV1|Q99605	Missense_Mutation	SNP	ENST00000376917.3	37	c.754G>A	CCDS34370.1	.	.	.	.	.	.	.	.	.	.	C	12.48	1.951028	0.34471	.	.	ENSG00000204644	ENST00000488757;ENST00000376881;ENST00000376883	T;T;T	0.14391	2.51;2.51;2.51	4.48	4.48	0.54585	.	0.327889	0.22203	N	0.063209	T	0.01765	0.0056	N	0.17631	0.505	0.09310	N	1	P;P	0.39352	0.669;0.669	B;B	0.31946	0.138;0.138	T	0.35375	-0.9791	10	0.02654	T	1	-11.9414	8.5918	0.33693	0.0:0.8957:0.0:0.1043	.	252;232	Q9NU63-3;Q9NU63-2	.;.	I	252;232;232	ENSP00000418259:V252I;ENSP00000366078:V232I;ENSP00000366080:V232I	ENSP00000366078:V232I	V	-	1	0	ZFP57	29749113	0.001000	0.12720	0.791000	0.31998	0.872000	0.50106	0.496000	0.22499	2.476000	0.83614	0.563000	0.77884	GTC		0.557	MOG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076160.3	NM_002433	
TJAP1	93643	broad.mit.edu	37	6	43470020	43470020	+	Splice_Site	SNP	G	G	T			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr6:43470020G>T	ENST00000372445.5	+	7	666		c.e7-1		TJAP1_ENST00000372449.1_Splice_Site|TJAP1_ENST00000372452.1_Splice_Site|TJAP1_ENST00000483640.1_Splice_Site|TJAP1_ENST00000259751.1_Splice_Site|TJAP1_ENST00000438588.2_Splice_Site|TJAP1_ENST00000372444.2_Splice_Site|TJAP1_ENST00000436109.2_Splice_Site	NM_001146016.1	NP_001139488.1	Q5JTD0	TJAP1_HUMAN	tight junction associated protein 1 (peripheral)						Golgi organization (GO:0007030)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)|trans-Golgi network (GO:0005802)				cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|urinary_tract(2)	21	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			TCCCTTTTCAGGCTGCAGAAC	0.547																																						uc003ovd.2																			0					0						c.e7-1		tight junction associated protein 1 isoform a							100.0	83.0	89.0					6																	43470020		2203	4300	6503	SO:0001630	splice_region_variant	93643					Golgi apparatus|tight junction	protein binding	g.chr6:43470020G>T	AK024269	CCDS4898.1, CCDS55004.1	6p21.1	2008-02-05	2005-07-05	2005-07-05	ENSG00000137221	ENSG00000137221			17949	protein-coding gene	gene with protein product		612658	"""tight junction protein 4 (peripheral)"""	TJP4		11602598	Standard	NM_001146016		Approved	PILT	uc011dvh.1	Q5JTD0	OTTHUMG00000014736	ENST00000372445.5:c.291-1G>T	6.37:g.43470020G>T						TJAP1_uc003ovf.2_Splice_Site_p.R97_splice|TJAP1_uc003ove.2_Splice_Site_p.R97_splice|TJAP1_uc003ovc.2_Splice_Site_p.R97_splice|TJAP1_uc010jyp.2_Splice_Site_p.R56_splice|TJAP1_uc011dvh.1_Splice_Site_p.R97_splice|TJAP1_uc003ovg.2_Splice_Site|TJAP1_uc010jyq.2_Splice_Site_p.R97_splice|TJAP1_uc011dvi.1_Splice_Site_p.R97_splice|TJAP1_uc011dvj.1_Splice_Site|TJAP1_uc003ovi.2_Translation_Start_Site	p.R97_splice	NM_001146016	NP_001139488	Q5JTD0	TJAP1_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		7	667	+	all_lung(25;0.00536)							Q05BH9|Q5JTD1|Q5JWW1|Q68DB2|Q6P2P3|Q9H7V7	Splice_Site	SNP	ENST00000372445.5	37	c.291_splice	CCDS55004.1	.	.	.	.	.	.	.	.	.	.	G	17.59	3.428221	0.62844	.	.	ENSG00000137221	ENST00000372444;ENST00000372445;ENST00000436109;ENST00000442878;ENST00000259751;ENST00000372454;ENST00000372452;ENST00000372449;ENST00000438588;ENST00000454762	.	.	.	4.83	4.83	0.62350	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1135	0.81278	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TJAP1	43577998	1.000000	0.71417	0.995000	0.50966	0.689000	0.40095	8.702000	0.91338	2.228000	0.72767	0.462000	0.41574	.		0.547	TJAP1-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040629.1	NM_080604	Intron
HDAC2	3066	broad.mit.edu	37	6	114264560	114264563	+	Frame_Shift_Del	DEL	CTTT	CTTT	-			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr6:114264560_114264563delCTTT	ENST00000519065.1	-	12	1706_1709	c.1330_1333delAAAG	c.(1330-1335)aaagctfs	p.KA444fs	HDAC2_ENST00000519108.1_Frame_Shift_Del_p.KA414fs|HDAC2_ENST00000398283.2_Frame_Shift_Del_p.KA538fs|HDAC2_ENST00000368632.2_Frame_Shift_Del_p.KA414fs			Q92769	HDAC2_HUMAN	histone deacetylase 2	444					ATP-dependent chromatin remodeling (GO:0043044)|blood coagulation (GO:0007596)|cardiac muscle cell development (GO:0055013)|chromatin remodeling (GO:0006338)|circadian regulation of gene expression (GO:0032922)|dendrite development (GO:0016358)|embryonic digit morphogenesis (GO:0042733)|epidermal cell differentiation (GO:0009913)|eyelid development in camera-type eye (GO:0061029)|fungiform papilla formation (GO:0061198)|hair follicle placode formation (GO:0060789)|hippocampus development (GO:0021766)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|maintenance of chromatin silencing (GO:0006344)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell cycle (GO:0045786)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of neuron projection development (GO:0010977)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of proteolysis (GO:0045862)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of protein deacetylation (GO:0090311)|regulation of protein kinase B signaling (GO:0051896)|regulation of sarcomere organization (GO:0060297)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|replication fork (GO:0005657)|Sin3 complex (GO:0016580)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|deacetylase activity (GO:0019213)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|poly(A) RNA binding (GO:0044822)|protein deacetylase activity (GO:0033558)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	Aminophylline(DB01223)|Lovastatin(DB00227)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Valproic Acid(DB00313)|Vorinostat(DB02546)	tcaattctagctttctttgctcct	0.353																																						uc003pwd.1																			0				skin(2)|ovary(1)|central_nervous_system(1)	4						c.(1612-1617)AAAGCTfs		histone deacetylase 2	Vorinostat(DB02546)																																			SO:0001589	frameshift_variant	3066				blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|ESC/E(Z) complex|NuRD complex|Sin3 complex	chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|sequence-specific DNA binding|transcription factor binding	g.chr6:114264560_114264563delCTTT	U31814	CCDS43493.1, CCDS43493.2	6q21	2008-08-29			ENSG00000196591	ENSG00000196591			4853	protein-coding gene	gene with protein product		605164				9782097	Standard	NM_001527		Approved	RPD3, YAF1	uc003pwd.2	Q92769	OTTHUMG00000015411	ENST00000519065.1:c.1330_1333delAAAG	6.37:g.114264564_114264567delCTTT	ENSP00000430432:p.Lys444fs					HDAC2_uc003pwc.1_Frame_Shift_Del_p.K414fs|HDAC2_uc003pwe.1_Frame_Shift_Del_p.K414fs	p.K538fs	NM_001527	NP_001518	Q92769	HDAC2_HUMAN		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	12	1612_1615	-		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)	444_445					B3KRS5|B4DL58|E1P561|Q5SRI8|Q5SZ86|Q8NEH4	Frame_Shift_Del	DEL	ENST00000519065.1	37	c.1612_1615delAAAG	CCDS43493.2																																																																																				0.353	HDAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041909.2		
HEY2	23493	broad.mit.edu	37	6	126080793	126080793	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr6:126080793C>T	ENST00000368364.3	+	5	1056	c.859C>T	c.(859-861)Ccc>Tcc	p.P287S	HEY2_ENST00000368365.1_Missense_Mutation_p.P241S	NM_012259.2	NP_036391.1	Q9UBP5	HEY2_HUMAN	hes-related family bHLH transcription factor with YRPW motif 2	287	Ala-rich.				anterior/posterior axis specification (GO:0009948)|arterial endothelial cell differentiation (GO:0060842)|ascending aorta morphogenesis (GO:0035910)|atrial septum morphogenesis (GO:0060413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate commitment (GO:0045165)|cochlea development (GO:0090102)|coronary vasculature morphogenesis (GO:0060977)|dorsal aorta morphogenesis (GO:0035912)|endocardial cushion to mesenchymal transition involved in heart valve formation (GO:0003199)|heart trabecula formation (GO:0060347)|labyrinthine layer blood vessel development (GO:0060716)|mesenchymal cell development (GO:0014031)|muscular septum morphogenesis (GO:0003150)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cardiac vascular smooth muscle cell differentiation (GO:2000723)|negative regulation of gene expression (GO:0010629)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription by transcription factor localization (GO:0010621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000820)|negative regulation of transcription initiation from RNA polymerase II promoter (GO:0060633)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of heart rate (GO:0010460)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein-DNA complex assembly (GO:0065004)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of auditory receptor cell differentiation (GO:0045607)|regulation of vasculogenesis (GO:2001212)|smooth muscle cell differentiation (GO:0051145)|tricuspid valve formation (GO:0003195)|tricuspid valve morphogenesis (GO:0003186)|umbilical cord morphogenesis (GO:0036304)|vascular smooth muscle cell development (GO:0097084)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell development (GO:0055015)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	histone deacetylase binding (GO:0042826)|microsatellite binding (GO:0035939)|protein binding transcription factor activity (GO:0000988)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|large_intestine(7)|lung(5)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)		GGGGGCATTCCCCATGCTTCC	0.667																																						uc003qad.2																			0				breast(1)	1						c.(859-861)CCC>TCC		hairy/enhancer-of-split related with YRPW motif							99.0	106.0	104.0					6																	126080793		2203	4299	6502	SO:0001583	missense	23493				negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|smooth muscle cell differentiation|transcription, DNA-dependent	transcriptional repressor complex	histone deacetylase binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding	g.chr6:126080793C>T	AJ249545	CCDS5131.1	6q	2013-10-17	2013-10-17		ENSG00000135547	ENSG00000135547		"""Basic helix-loop-helix proteins"""	4881	protein-coding gene	gene with protein product		604674	"""hairy/enhancer-of-split related with YRPW motif 2"""			10415358	Standard	NM_012259		Approved	bHLHb32, HERP1, HESR2	uc003qad.3	Q9UBP5	OTTHUMG00000015512	ENST00000368364.3:c.859C>T	6.37:g.126080793C>T	ENSP00000357348:p.Pro287Ser					HEY2_uc011ebr.1_Missense_Mutation_p.P241S	p.P287S	NM_012259	NP_036391	Q9UBP5	HEY2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)	5	1050	+			287			Ala-rich.			Missense_Mutation	SNP	ENST00000368364.3	37	c.859C>T	CCDS5131.1	.	.	.	.	.	.	.	.	.	.	C	12.21	1.869811	0.33069	.	.	ENSG00000135547	ENST00000368365;ENST00000368364	T;T	0.58506	0.34;0.33	5.64	4.76	0.60689	.	0.811285	0.11159	N	0.593236	T	0.45677	0.1354	L	0.46157	1.445	0.47308	D	0.999381	D	0.58620	0.983	P	0.49140	0.601	T	0.38542	-0.9656	10	0.18276	T	0.48	-16.9894	15.831	0.78752	0.1369:0.8631:0.0:0.0	.	287	Q9UBP5	HEY2_HUMAN	S	241;287	ENSP00000357349:P241S;ENSP00000357348:P287S	ENSP00000357348:P287S	P	+	1	0	HEY2	126122486	1.000000	0.71417	0.886000	0.34754	0.957000	0.61999	4.508000	0.60441	1.335000	0.45486	0.561000	0.74099	CCC		0.667	HEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042077.1		
HOXA6	3203	broad.mit.edu	37	7	27185435	27185435	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr7:27185435G>A	ENST00000222728.3	-	2	568	c.544C>T	c.(544-546)Cgg>Tgg	p.R182W	HOXA-AS3_ENST00000518848.1_RNA|RP1-170O19.22_ENST00000467897.2_RNA|HOXA6_ENST00000521478.1_5'UTR|HOXA5_ENST00000222726.3_5'Flank|HOXA-AS3_ENST00000521231.1_RNA|RP1-170O19.23_ENST00000498652.1_RNA|HOXA-AS3_ENST00000521197.1_RNA|HOXA-AS3_ENST00000518947.2_RNA	NM_024014.3	NP_076919.1	P31267	HXA6_HUMAN	homeobox A6	182					anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(5)|lung(3)|ovary(1)	10						CGGCGGCGCCGTGTCAGGTAG	0.602																																						uc003syo.1																			0				ovary(1)|central_nervous_system(1)	2						c.(544-546)CGG>TGG		homeobox A6							154.0	141.0	146.0					7																	27185435		2203	4300	6503	SO:0001583	missense	3203					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27185435G>A		CCDS5407.1	7p15.2	2011-06-20	2005-12-22		ENSG00000106006	ENSG00000106006		"""Homeoboxes / ANTP class : HOXL subclass"""	5107	protein-coding gene	gene with protein product		142951	"""homeo box A6"""	HOX1B, HOX1		1973146, 1358459	Standard	NM_024014		Approved		uc003syo.2	P31267	OTTHUMG00000023216	ENST00000222728.3:c.544C>T	7.37:g.27185435G>A	ENSP00000222728:p.Arg182Trp					HOXA5_uc003syn.1_5'Flank|uc003syp.1_5'Flank	p.R182W	NM_024014	NP_076919	P31267	HXA6_HUMAN			2	544	-			182			Homeobox.		A4D192|Q2M3G3|Q9UPM0	Missense_Mutation	SNP	ENST00000222728.3	37	c.544C>T	CCDS5407.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.801745	0.90538	.	.	ENSG00000106006	ENST00000222728	D	0.96459	-4.02	5.6	4.66	0.58398	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.98492	0.9497	H	0.94734	3.575	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98842	1.0755	10	0.87932	D	0	.	13.1747	0.59619	0.0:0.0:0.6627:0.3373	.	182	P31267	HXA6_HUMAN	W	182	ENSP00000222728:R182W	ENSP00000222728:R182W	R	-	1	2	HOXA6	27151960	0.984000	0.35163	0.999000	0.59377	0.996000	0.88848	1.749000	0.38319	2.627000	0.88993	0.561000	0.74099	CGG		0.602	HOXA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358697.1		
CCDC132	55610	broad.mit.edu	37	7	92985271	92985271	+	Missense_Mutation	SNP	T	T	C			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr7:92985271T>C	ENST00000305866.5	+	27	2782	c.2654T>C	c.(2653-2655)tTa>tCa	p.L885S	CCDC132_ENST00000535481.1_Missense_Mutation_p.L605S|CCDC132_ENST00000474412.1_3'UTR|CCDC132_ENST00000544910.1_Missense_Mutation_p.L855S|CCDC132_ENST00000541136.1_3'UTR	NM_017667.3	NP_060137.2	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	885						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			CAACAGTTTTTAATGAAACTT	0.303																																						uc003umo.2																			0					0						c.(2653-2655)TTA>TCA		coiled-coil domain containing 132 isoform a							46.0	44.0	45.0					7																	92985271		1807	4066	5873	SO:0001583	missense	55610							g.chr7:92985271T>C	AL833112, AK055965, AL832393	CCDS5630.1, CCDS43617.1, CCDS59065.1	7q21.3	2007-07-23			ENSG00000004766	ENSG00000004766			25956	protein-coding gene	gene with protein product						11347906	Standard	NM_024553		Approved	KIAA1861, FLJ20097, DKFZp313I2429	uc003umo.4	Q96JG6	OTTHUMG00000131733	ENST00000305866.5:c.2654T>C	7.37:g.92985271T>C	ENSP00000307666:p.Leu885Ser					CCDC132_uc003umq.2_RNA|CCDC132_uc003ump.2_Missense_Mutation_p.L855S|CCDC132_uc003umr.2_RNA|CCDC132_uc011khz.1_Missense_Mutation_p.L605S	p.L885S	NM_017667	NP_060137	Q96JG6	CC132_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		27	2782	+	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		885					B3KX22|D1MQ00|F5H5U7|Q75N07|Q8WVK3|Q9H5C6	Missense_Mutation	SNP	ENST00000305866.5	37	c.2654T>C	CCDS43617.1	.	.	.	.	.	.	.	.	.	.	T	25.6	4.650412	0.87958	.	.	ENSG00000004766	ENST00000305866;ENST00000544910;ENST00000535481	.	.	.	5.77	5.77	0.91146	Protein of unknown function DUF2451, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.79118	0.4392	M	0.73962	2.25	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.997	D;D;D	0.87578	0.998;0.996;0.995	T	0.79808	-0.1647	9	0.49607	T	0.09	-9.5372	16.4116	0.83717	0.0:0.0:0.0:1.0	.	605;855;885	B4DS55;F5H5U7;Q96JG6	.;.;CC132_HUMAN	S	885;855;605	.	ENSP00000307666:L885S	L	+	2	0	CCDC132	92823207	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.781000	0.85668	2.340000	0.79590	0.528000	0.53228	TTA		0.303	CCDC132-019	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341687.1	NM_017667	
PEG10	23089	broad.mit.edu	37	7	94293142	94293142	+	Missense_Mutation	SNP	A	A	G			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr7:94293142A>G	ENST00000482108.1	+	2	753	c.274A>G	c.(274-276)Atg>Gtg	p.M92V	PEG10_ENST00000488574.1_Missense_Mutation_p.M92V	NM_001040152.1|NM_001172438.1|NM_001184962.1	NP_001035242.1|NP_001165909.1|NP_001171891.1	Q86TG7	PEG10_HUMAN	paternally expressed 10	92	Necessary for interaction with ALK1.				apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|placenta development (GO:0001890)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1)	21	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			CAACCCAGACATGCTGGCTCC	0.562																																						uc011kie.1																			0				central_nervous_system(1)	1						c.(502-504)ATG>GTG		paternally expressed 10 isoform RF1							61.0	65.0	63.0					7																	94293142		2005	4151	6156	SO:0001583	missense	23089				apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr7:94293142A>G	AB049834	CCDS55126.1, CCDS75636.1, CCDS75637.1	7q21	2007-12-07			ENSG00000242265	ENSG00000242265			14005	protein-coding gene	gene with protein product		609810				11318613, 15716091, 16093683	Standard	NM_001172437		Approved	KIAA1051, HB-1, MEF3L, RGAG3, Mar2, Mart2	uc011kie.2	Q86TG7	OTTHUMG00000155578	ENST00000482108.1:c.274A>G	7.37:g.94293142A>G	ENSP00000417587:p.Met92Val						p.M168V	NM_001040152	NP_001035242	Q86TG7	PEG10_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		2	719	+	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		92			Necessary for interaction with ALK1.		Q96A68|Q9UPV1	Missense_Mutation	SNP	ENST00000482108.1	37	c.502A>G	CCDS55126.1	.	.	.	.	.	.	.	.	.	.	A	0.015	-1.568266	0.00895	.	.	ENSG00000242265	ENST00000482108;ENST00000488574	T;T	0.10960	2.82;2.82	4.25	3.09	0.35607	.	.	.	.	.	T	0.06872	0.0175	N	0.19112	0.55	0.19775	N	0.999959	B;B	0.12013	0.005;0.001	B;B	0.08055	0.003;0.002	T	0.34775	-0.9815	9	0.35671	T	0.21	.	6.5645	0.22505	0.8885:0.0:0.1115:0.0	.	168;92	B4DSP0;Q86TG7	.;PEG10_HUMAN	V	92	ENSP00000417587:M92V;ENSP00000418944:M92V	ENSP00000417587:M92V	M	+	1	0	PEG10	94131078	0.316000	0.24580	1.000000	0.80357	0.994000	0.84299	0.570000	0.23653	0.795000	0.33922	0.454000	0.30748	ATG		0.562	PEG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340751.1	NM_015068	
OR2AE1	81392	broad.mit.edu	37	7	99474406	99474406	+	Missense_Mutation	SNP	T	T	C			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr7:99474406T>C	ENST00000316368.2	-	1	274	c.251A>G	c.(250-252)aAc>aGc	p.N84S		NM_001005276.1	NP_001005276.1	Q8NHA4	O2AE1_HUMAN	olfactory receptor, family 2, subfamily AE, member 1	84						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)	11	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					AGATAGGTAGTTGGTAGCCAT	0.468																																						uc003usc.1																			0					0						c.(250-252)AAC>AGC		olfactory receptor, family 2, subfamily AE,							116.0	98.0	104.0					7																	99474406		2203	4300	6503	SO:0001583	missense	81392				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:99474406T>C	AC011904	CCDS34696.1	7q22.1	2014-02-19	2002-02-28		ENSG00000244623	ENSG00000244623		"""GPCR / Class A : Olfactory receptors"""	15087	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily AE, member 2"""	OR2AE2			Standard	NM_001005276		Approved		uc003usc.1	Q8NHA4	OTTHUMG00000156650	ENST00000316368.2:c.251A>G	7.37:g.99474406T>C	ENSP00000313936:p.Asn84Ser						p.N84S	NM_001005276	NP_001005276	Q8NHA4	O2AE1_HUMAN			1	251	-	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)		84			Extracellular (Potential).		B2RPD2	Missense_Mutation	SNP	ENST00000316368.2	37	c.251A>G	CCDS34696.1	.	.	.	.	.	.	.	.	.	.	T	13.07	2.125911	0.37533	.	.	ENSG00000244623	ENST00000316368	T	0.00468	7.22	3.63	2.48	0.30137	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43747	D	0.000539	T	0.00724	0.0024	L	0.45422	1.42	0.20489	N	0.999897	D	0.69078	0.997	D	0.70716	0.97	T	0.52786	-0.8529	10	0.59425	D	0.04	.	7.3435	0.26650	0.0:0.1099:0.0:0.8901	.	84	Q8NHA4	O2AE1_HUMAN	S	84	ENSP00000313936:N84S	ENSP00000313936:N84S	N	-	2	0	OR2AE1	99312342	0.000000	0.05858	0.898000	0.35279	0.407000	0.30961	-0.145000	0.10265	0.763000	0.33175	0.410000	0.27636	AAC		0.468	OR2AE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345053.1		
KRBA1	84626	broad.mit.edu	37	7	149431067	149431067	+	Silent	SNP	A	A	T			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr7:149431067A>T	ENST00000485033.2	+	15	2841	c.2841A>T	c.(2839-2841)ggA>ggT	p.G947G	KRBA1_ENST00000319551.8_Silent_p.G947G|KRBA1_ENST00000255992.10_Silent_p.G1007G|KRBA1_ENST00000479560.1_3'UTR			A5PL33	KRBA1_HUMAN	KRAB-A domain containing 1	1008	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TGCTGGGAGGAGTGCAGAGGG	0.647																																						uc003wfz.2																			0				ovary(1)|central_nervous_system(1)	2						c.(3022-3024)GGA>GGT		KRAB A domain containing 1							12.0	16.0	15.0					7																	149431067		1961	4147	6108	SO:0001819	synonymous_variant	84626							g.chr7:149431067A>T	AB058765	CCDS75674.1	7q36	2014-02-12	2006-08-15		ENSG00000133619	ENSG00000133619		"""-"""	22228	protein-coding gene	gene with protein product			"""KRAB A domain containing 1"""				Standard	NM_001290187		Approved	KIAA1862	uc003wfz.3	A5PL33	OTTHUMG00000157886	ENST00000485033.2:c.2841A>T	7.37:g.149431067A>T						KRBA1_uc010lpj.2_RNA|KRBA1_uc003wga.2_RNA|KRBA1_uc003wgb.2_Silent_p.G615G	p.G1008G	NM_032534	NP_115923	A5PL33	KRBA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		18	3423	+	Melanoma(164;0.165)|Ovarian(565;0.177)		1008					A7E2F5|E7ENE9|Q8N4X0|Q96JG5	Silent	SNP	ENST00000485033.2	37	c.3024A>T																																																																																					0.647	KRBA1-004	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000349841.3	NM_032534	
ANK1	286	broad.mit.edu	37	8	41519452	41519452	+	Missense_Mutation	SNP	C	C	T	rs370175565		TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr8:41519452C>T	ENST00000347528.4	-	41	5569	c.5486G>A	c.(5485-5487)cGc>cAc	p.R1829H	ANK1_ENST00000314214.8_Missense_Mutation_p.R104H|ANK1_ENST00000352337.4_Intron|ANK1_ENST00000265709.8_Missense_Mutation_p.R1870H|MIR486_ENST00000408108.1_RNA|RP11-930P14.1_ENST00000522388.1_RNA|ANK1_ENST00000522231.1_Missense_Mutation_p.R104H|ANK1_ENST00000396942.1_Missense_Mutation_p.R1829H|ANK1_ENST00000522543.1_Missense_Mutation_p.R104H|ANK1_ENST00000379758.2_Intron|ANK1_ENST00000396945.1_Intron|RP11-930P14.1_ENST00000520418.1_RNA|ANK1_ENST00000289734.7_Missense_Mutation_p.R1829H|RP11-930P14.1_ENST00000585088.1_RNA|ANK1_ENST00000457297.1_Intron	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1829	55 kDa regulatory domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			AACCACCTTGCGAATGATCTA	0.602																																						uc003xok.2																			0				ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9						c.(5485-5487)CGC>CAC		ankyrin 1 isoform 1							40.0	43.0	42.0					8																	41519452		2203	4300	6503	SO:0001583	missense	286				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	g.chr8:41519452C>T	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.5486G>A	8.37:g.41519452C>T	ENSP00000339620:p.Arg1829His					NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_Missense_Mutation_p.R983H|ANK1_uc003xoi.2_Missense_Mutation_p.R1829H|ANK1_uc003xoj.2_Missense_Mutation_p.R1829H|ANK1_uc003xol.2_Missense_Mutation_p.R1667H|ANK1_uc003xom.2_Missense_Mutation_p.R1870H|ANK1_uc011lcl.1_Missense_Mutation_p.R104H|ANK1_uc003xod.2_Missense_Mutation_p.R104H|ANK1_uc003xoc.2_Missense_Mutation_p.R104H|ANK1_uc003xof.2_Intron|MIR486_hsa-mir-486|MI0002470_5'Flank	p.R1829H	NM_020476	NP_065209	P16157	ANK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		41	5570	-	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	1829	R->G: Abolishes interaction with OBSCN (in isoform Mu17).		55 kDa regulatory domain.		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	ENST00000347528.4	37	c.5486G>A	CCDS6119.1	.	.	.	.	.	.	.	.	.	.	C	14.85	2.658631	0.47467	.	.	ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000396942;ENST00000522231;ENST00000522543;ENST00000314214;ENST00000265709	T;T;T;D;D;D;T	0.92699	-1.22;-1.23;-1.23;-2.57;-3.08;-3.09;-1.12	6.04	5.15	0.70609	.	0.000000	0.85682	D	0.000000	D	0.95284	0.8470	M	0.66939	2.045	0.58432	D	0.999999	D;D;D;P;P;D;D;D;D	0.89917	1.0;0.964;0.99;0.939;0.835;0.992;0.999;0.999;1.0	D;P;P;B;B;P;P;D;D	0.72982	0.949;0.536;0.781;0.433;0.326;0.832;0.828;0.931;0.979	D	0.95691	0.8740	10	0.87932	D	0	.	15.6155	0.76764	0.1385:0.8615:0.0:0.0	.	104;1870;1667;1829;1829;1829;983;104;104	Q6PK32;P16157-21;P16157-4;P16157;P16157-5;P16157-3;B3KX39;Q53ER1;E5RFL7	.;.;.;ANK1_HUMAN;.;.;.;.;.	H	1829;1829;1829;104;104;104;1870	ENSP00000339620:R1829H;ENSP00000289734:R1829H;ENSP00000380147:R1829H;ENSP00000428750:R104H;ENSP00000430368:R104H;ENSP00000319123:R104H;ENSP00000265709:R1870H	ENSP00000265709:R1870H	R	-	2	0	ANK1	41638609	1.000000	0.71417	0.987000	0.45799	0.013000	0.08279	4.933000	0.63484	1.525000	0.49052	0.561000	0.74099	CGC		0.602	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475	
SLC28A3	64078	broad.mit.edu	37	9	86917142	86917142	+	Missense_Mutation	SNP	A	A	G			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr9:86917142A>G	ENST00000376238.4	-	5	546	c.497T>C	c.(496-498)cTa>cCa	p.L166P	SLC28A3_ENST00000537648.1_Missense_Mutation_p.L97P	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 3	166					pyrimidine nucleoside transport (GO:0015864)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|purine-specific nucleoside:sodium symporter activity (GO:0015390)|pyrimidine- and adenine-specific:sodium symporter activity (GO:0015389)			endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31					Adenosine(DB00640)|Cladribine(DB00242)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Ribavirin(DB00811)	ATGGCTGTTTAGAAGCCTTCT	0.433																																					Ovarian(106;425 1539 34835 42413 43572)	uc010mpz.2																			0				upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|skin(1)	4						c.(496-498)CTA>CCA		concentrative Na+-nucleoside cotransporter							111.0	102.0	105.0					9																	86917142		2203	4300	6503	SO:0001583	missense	64078				nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding	g.chr9:86917142A>G	AF305210	CCDS6670.1	9q21.33	2013-07-17	2013-07-17		ENSG00000197506	ENSG00000197506		"""Solute carriers"""	16484	protein-coding gene	gene with protein product		608269	"""solute carrier family 28 (sodium-coupled nucleoside transporter), member 3"""			11032837	Standard	NM_001199633		Approved	CNT3	uc010mpz.3	Q9HAS3	OTTHUMG00000020117	ENST00000376238.4:c.497T>C	9.37:g.86917142A>G	ENSP00000365413:p.Leu166Pro					SLC28A3_uc011lsy.1_Missense_Mutation_p.L97P|SLC28A3_uc004anu.1_Missense_Mutation_p.L166P|SLC28A3_uc010mqb.2_Missense_Mutation_p.L97P	p.L166P	NM_022127	NP_071410	Q9HAS3	S28A3_HUMAN			5	622	-			166			Cytoplasmic (Potential).		A8K9Y4|B1AML0|B2RA51|B4E2S8|F5GYE3	Missense_Mutation	SNP	ENST00000376238.4	37	c.497T>C	CCDS6670.1	.	.	.	.	.	.	.	.	.	.	A	11.57	1.678418	0.29783	.	.	ENSG00000197506	ENST00000376238;ENST00000537648	T;T	0.02121	4.6;4.44	5.33	5.33	0.75918	.	0.457458	0.21815	N	0.068717	T	0.09423	0.0232	M	0.76328	2.33	0.24263	N	0.995272	P;D	0.65815	0.595;0.995	B;P	0.62649	0.15;0.905	T	0.09552	-1.0669	10	0.62326	D	0.03	-5.1866	8.9631	0.35860	0.9169:0.0:0.0831:0.0	.	97;166	B4E2S8;Q9HAS3	.;S28A3_HUMAN	P	166;97	ENSP00000365413:L166P;ENSP00000446438:L97P	ENSP00000365413:L166P	L	-	2	0	SLC28A3	86106962	0.903000	0.30736	0.031000	0.17742	0.009000	0.06853	4.619000	0.61218	2.240000	0.73641	0.533000	0.62120	CTA		0.433	SLC28A3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052874.1	NM_022127	
NAA35	60560	broad.mit.edu	37	9	88627995	88627995	+	Missense_Mutation	SNP	A	A	T			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr9:88627995A>T	ENST00000361671.5	+	16	1458	c.1325A>T	c.(1324-1326)aAc>aTc	p.N442I		NM_024635.3	NP_078911.3	Q5VZE5	NAA35_HUMAN	N(alpha)-acetyltransferase 35, NatC auxiliary subunit	442					negative regulation of apoptotic process (GO:0043066)|smooth muscle cell proliferation (GO:0048659)	cytoplasm (GO:0005737)|NatC complex (GO:0031417)				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	25						CATGGACATAACAGGGCTCGA	0.378																																						uc004aoi.3																			0				skin(2)|central_nervous_system(1)	3						c.(1324-1326)AAC>ATC		corneal wound healing-related protein							125.0	119.0	121.0					9																	88627995		2203	4300	6503	SO:0001583	missense	60560				smooth muscle cell proliferation	cytoplasm|nucleus|plasma membrane		g.chr9:88627995A>T	AK025266	CCDS6673.1	9q22.1	2010-01-14	2010-01-14	2010-01-14	ENSG00000135040	ENSG00000135040		"""N(alpha)-acetyltransferase subunits"""	24340	protein-coding gene	gene with protein product			"""MAK10 homolog, amino-acid N-acetyltransferase subunit (S. cerevisiae)"""	MAK10		14702039, 19660095	Standard	NM_024635		Approved	FLJ21613, FLJ22643, bA379P1.1	uc004aoi.4	Q5VZE5	OTTHUMG00000020131	ENST00000361671.5:c.1325A>T	9.37:g.88627995A>T	ENSP00000354972:p.Asn442Ile					NAA35_uc004aoj.3_Missense_Mutation_p.N442I	p.N442I	NM_024635	NP_078911	Q5VZE5	NAA35_HUMAN			16	1462	+			442					Q5VZE6|Q9H631|Q9H703	Missense_Mutation	SNP	ENST00000361671.5	37	c.1325A>T	CCDS6673.1	.	.	.	.	.	.	.	.	.	.	A	26.6	4.755472	0.89843	.	.	ENSG00000135040	ENST00000361671	.	.	.	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	D	0.83991	0.5374	M	0.87038	2.855	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.87121	0.2191	9	0.87932	D	0	-14.6378	15.573	0.76354	1.0:0.0:0.0:0.0	.	442	Q5VZE5	NAA35_HUMAN	I	442	.	ENSP00000354972:N442I	N	+	2	0	NAA35	87817815	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.272000	0.95707	2.076000	0.62316	0.460000	0.39030	AAC		0.378	NAA35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052906.1	NM_024635	
SUSD3	203328	broad.mit.edu	37	9	95841846	95841846	+	Silent	SNP	C	C	T	rs146086851	byFrequency	TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr9:95841846C>T	ENST00000375472.3	+	4	555	c.519C>T	c.(517-519)agC>agT	p.S173S	SUSD3_ENST00000375469.1_Silent_p.S160S	NM_145006.2	NP_659443.1	Q96L08	SUSD3_HUMAN	sushi domain containing 3	173						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	13						AACCCGTGAGCGGGCCCAGCC	0.642													C|||	2	0.000399361	0.0	0.0	5008	,	,		20275	0.0		0.002	False		,,,				2504	0.0					uc004atb.2																			0				breast(2)|skin(2)|ovary(1)|lung(1)	6						c.(517-519)AGC>AGT		sushi domain containing 3		C		1,4405	2.1+/-5.4	0,1,2202	62.0	57.0	59.0		519	1.4	0.0	9	dbSNP_134	59	17,8583	13.3+/-46.6	0,17,4283	no	coding-synonymous	SUSD3	NM_145006.2		0,18,6485	TT,TC,CC		0.1977,0.0227,0.1384		173/256	95841846	18,12988	2203	4300	6503	SO:0001819	synonymous_variant	203328					integral to membrane		g.chr9:95841846C>T	AK128289	CCDS6701.1, CCDS69620.1, CCDS75857.1	9q22.32	2004-01-29			ENSG00000157303	ENSG00000157303			28391	protein-coding gene	gene with protein product						12975309	Standard	NM_001287007		Approved	MGC26847	uc004atb.3	Q96L08	OTTHUMG00000020241	ENST00000375472.3:c.519C>T	9.37:g.95841846C>T						SUSD3_uc004atc.2_Silent_p.S160S	p.S173S	NM_145006	NP_659443	Q96L08	SUSD3_HUMAN			4	555	+			173			Cytoplasmic (Potential).		Q49AA6|Q6UXV7	Silent	SNP	ENST00000375472.3	37	c.519C>T	CCDS6701.1																																																																																				0.642	SUSD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053120.1	NM_145006	
DDX31	64794	broad.mit.edu	37	9	135470499	135470500	+	Splice_Site	DEL	CC	CC	-			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr9:135470499_135470500delCC	ENST00000372159.3	-	20	2461	c.2310delGG	c.(2308-2310)agg>ag	p.R770fs	DDX31_ENST00000372153.1_Splice_Site_p.R697fs|DDX31_ENST00000438527.3_Splice_Site_p.R641fs	NM_022779.7	NP_073616.6	Q9H8H2	DDX31_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 31	770						nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		GAAGGTCAGGCCTGAAGAACAG	0.46																																						uc004cbq.1																			0				central_nervous_system(1)	1						c.e20-1		DEAD (Asp-Glu-Ala-Asp) box polypeptide 31																																				SO:0001630	splice_region_variant	64794					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr9:135470499_135470500delCC	AF427339	CCDS6951.1, CCDS6952.1	9q34.2	2012-04-17	2003-06-13		ENSG00000125485	ENSG00000125485		"""DEAD-boxes"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	16715	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 25"""		"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 31"""				Standard	NM_022779		Approved	FLJ13633, FLJ23349, FLJ14578, PPP1R25	uc004cbq.1	Q9H8H2	OTTHUMG00000020843	ENST00000372159.3:c.2310-1GG>-	9.37:g.135470499_135470500delCC						DDX31_uc010mzu.1_Splice_Site_p.R697_splice	p.R770_splice	NM_022779	NP_073616	Q9H8H2	DDX31_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)	20	2462	-								Q5K6N2|Q5K6N3|Q5K6N4|Q5VZJ4|Q5VZJ9|Q96E91|Q96NY2|Q96SX5|Q9H5K6	Splice_Site	DEL	ENST00000372159.3	37	c.2310_splice	CCDS6951.1																																																																																				0.460	DDX31-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054794.1	NM_138620	Frame_Shift_Del
DCAF8L1	139425	broad.mit.edu	37	X	27998785	27998785	+	Missense_Mutation	SNP	A	A	G			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chrX:27998785A>G	ENST00000441525.1	-	1	781	c.667T>C	c.(667-669)Tgg>Cgg	p.W223R		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	223										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						ACCCAGTCCCACACTATCACC	0.498																																						uc004dbx.1																			0				ovary(3)|skin(1)	4						c.(667-669)TGG>CGG		DDB1 and CUL4 associated factor 8-like 1							50.0	41.0	44.0					X																	27998785		2202	4300	6502	SO:0001583	missense	139425							g.chrX:27998785A>G		CCDS35222.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17	ENSG00000226372	ENSG00000226372		"""WD repeat domain containing"""	31810	protein-coding gene	gene with protein product			"""WD repeat domain 42B"""	WDR42B			Standard	NM_001017930		Approved		uc004dbx.1	A6NGE4	OTTHUMG00000021312	ENST00000441525.1:c.667T>C	X.37:g.27998785A>G	ENSP00000405222:p.Trp223Arg						p.W223R	NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN			1	782	-			223			WD 1.		B3KXX1	Missense_Mutation	SNP	ENST00000441525.1	37	c.667T>C	CCDS35222.1	.	.	.	.	.	.	.	.	.	.	A	16.15	3.040947	0.55003	.	.	ENSG00000226372	ENST00000441525	D	0.83506	-1.73	0.842	0.842	0.18927	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.91747	0.7390	H	0.96547	3.84	0.53005	D	0.999967	D	0.89917	1.0	D	0.97110	1.0	D	0.89148	0.3521	10	0.87932	D	0	-6.0648	5.6395	0.17557	0.9999:0.0:1.0E-4:0.0	.	223	A6NGE4	DC8L1_HUMAN	R	223	ENSP00000405222:W223R	ENSP00000405222:W223R	W	-	1	0	DCAF8L1	27908706	1.000000	0.71417	0.624000	0.29186	0.504000	0.33889	5.261000	0.65496	0.571000	0.29365	0.235000	0.17854	TGG		0.498	DCAF8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056150.2	XM_066690	
MED12	9968	broad.mit.edu	37	X	70341430	70341430	+	Nonsense_Mutation	SNP	C	C	T			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chrX:70341430C>T	ENST00000374080.3	+	7	897	c.865C>T	c.(865-867)Cag>Tag	p.Q289*	MED12_ENST00000374102.1_Nonsense_Mutation_p.Q289*|MED12_ENST00000333646.6_Nonsense_Mutation_p.Q289*			Q93074	MED12_HUMAN	mediator complex subunit 12	289					androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					GGAATTTGTTCAGTCTGCATA	0.502			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome																															uc004dyy.2				Dom	yes		X	Xq13	9968		mediator complex subunit 12	Yes		M					0				ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4						c.(865-867)CAG>TAG		mediator complex subunit 12							42.0	43.0	42.0					X																	70341430		2027	4168	6195	SO:0001587	stop_gained	9968				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:70341430C>T	U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"""trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1"""	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.865C>T	X.37:g.70341430C>T	ENSP00000363193:p.Gln289*					MED12_uc011mpq.1_Nonsense_Mutation_p.Q289*|MED12_uc004dyz.2_Nonsense_Mutation_p.Q289*|MED12_uc004dza.2_Nonsense_Mutation_p.Q136*	p.Q289*	NM_005120	NP_005111	Q93074	MED12_HUMAN			7	1064	+	Renal(35;0.156)		289					O15410|O75557|Q9UHV6|Q9UND7	Nonsense_Mutation	SNP	ENST00000374080.3	37	c.865C>T	CCDS43970.1	.	.	.	.	.	.	.	.	.	.	.	38	7.195983	0.98129	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072	.	.	.	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-15.7728	18.7005	0.91618	0.0:1.0:0.0:0.0	.	.	.	.	X	289;289;289;289;257	.	ENSP00000333125:Q289X	Q	+	1	0	MED12	70258155	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.100000	0.76989	2.615000	0.88500	0.597000	0.82753	CAG		0.502	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120	
MAGEA6	4105	broad.mit.edu	37	X	151870122	151870122	+	Missense_Mutation	SNP	T	T	A			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chrX:151870122T>A	ENST00000329342.5	+	3	1037	c.812T>A	c.(811-813)tTc>tAc	p.F271Y		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	271	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					TGCTATGAGTTCCTGTGGGGT	0.532																																						uc004ffq.1																			0					0						c.(811-813)TTC>TAC		melanoma antigen family A, 6							142.0	138.0	140.0					X																	151870122		2202	4300	6502	SO:0001583	missense	4105						protein binding	g.chrX:151870122T>A		CCDS76050.1	Xq28	2009-03-13			ENSG00000197172	ENSG00000197172			6804	protein-coding gene	gene with protein product	"""MAGE-6 antigen"", ""melanoma-associated antigen 6"", ""melanoma antigen family A 6"", ""cancer/testis antigen family 1, member 6"""	300176		MAGE6		8575766	Standard	NM_005363		Approved	CT1.6	uc004ffq.1	P43360	OTTHUMG00000022642	ENST00000329342.5:c.812T>A	X.37:g.151870122T>A	ENSP00000329199:p.Phe271Tyr					MAGEA6_uc004ffr.1_Missense_Mutation_p.F271Y|MAGEA2_uc010nto.2_Intron	p.F271Y	NM_005363	NP_005354	P43360	MAGA6_HUMAN			3	1006	+	Acute lymphoblastic leukemia(192;6.56e-05)		271			MAGE.		A8IF93|Q6NW44	Missense_Mutation	SNP	ENST00000329342.5	37	c.812T>A	CCDS14708.1	.	.	.	.	.	.	.	.	.	.	t	12.70	2.015404	0.35511	.	.	ENSG00000197172	ENST00000329342	T	0.06768	3.26	0.879	0.879	0.19155	.	.	.	.	.	T	0.24928	0.0605	M	0.85099	2.735	0.09310	N	1	D	0.76494	0.999	D	0.70487	0.969	T	0.06516	-1.0822	9	0.66056	D	0.02	.	3.7732	0.08650	0.0:0.0:0.0:1.0	.	271	P43360	MAGA6_HUMAN	Y	271	ENSP00000329199:F271Y	ENSP00000329199:F271Y	F	+	2	0	MAGEA6	151620778	0.997000	0.39634	0.093000	0.20910	0.076000	0.17211	1.558000	0.36309	0.593000	0.29745	0.151000	0.16131	TTC		0.532	MAGEA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058747.2	NM_005363	
