#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	WXS	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.3																			0		p.T280T(1)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1)	18						c.(838-840)aCg>aTg		Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 16 (DNAJC16), mRNA.							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.3_5'UTR	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)	5	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					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	WXS	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_ENST00000317713.7_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*|MACF1_ENST00000539005.1_Nonsense_Mutation_p.R4126*|MACF1_ENST00000361689.2_Nonsense_Mutation_p.R4256*|MACF1_ENST00000567887.1_Nonsense_Mutation_p.R6352*			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																																						uc021olw.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(14272-14274)Cga>Tga		Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.							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_uc021ols.1_Nonsense_Mutation_p.R4253*|MACF1_uc021olt.1_Nonsense_Mutation_p.R4256*	p.R4758*	NM_012090	NP_036222	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)		40	14272	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	6323					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	WXS	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.2																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26						c.e4-1		Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 4 (KCNQ4), transcript variant 1, mRNA.							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.2_Splice_Site_p.D178_splice	p.D178_splice	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					O96025	Missense_Mutation	SNP	ENST00000347132.5	37	c.533_splice	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	WXS	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.2																			0				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						c.(1441-1443)Gac>Aac		Homo sapiens Myb-like, SWIRM and MPN domains 1 (MYSM1), mRNA.							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.3_Non-coding_Transcript	p.D481N	NM_001085487	NP_001078956	Q5VVJ2	MYSM1_HUMAN			9	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	WXS	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																																						uc021ovl.1																			1	Substitution - coding silent(1)	p.P265P(2)	lung(1)	breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20						c.(793-795)ccC>ccT		Homo sapiens gap junction protein, alpha 5, 40kDa (GJA5), transcript variant B, mRNA.							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_uc001eps.1_Silent_p.P265P|GJA5_uc001ept.1_Silent_p.P265P	p.P265P	NM_181703	NP_859054	P36382	CXA5_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.202)		0	795	-	all_hematologic(923;0.0276)		265					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	WXS	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_ENST00000467329.1_3'UTR|PRPF3_ENST00000414970.2_Splice_Site_p.G537G	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.4																			0				breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.e13+1		Homo sapiens PRP3 pre-mRNA processing factor 3 homolog (S. cerevisiae) (PRPF3), mRNA.							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_Splice_Site|PRPF3_uc010pca.2_Splice_Site_p.G546_splice|PRPF3_uc010pcb.2_Splice_Site_p.G538_splice|PRPF3_uc009wlq.1_Splice_Site	p.G587_splice	NM_004698	NP_004689	O43395	PRPF3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)	13	1921	+	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)		587					B4DSY9|O43446|Q5VT54	Silent	SNP	ENST00000324862.6	37	c.1759_splice	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	WXS	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	BRINP3_ENST00000534846.1_Missense_Mutation_p.R52Q|RP11-547I7.1_ENST00000452178.1_RNA	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		p.K153Q(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164						c.(460-462)cGg>cAg		Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA.		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			3	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	WXS	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				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						c.(6712-6714)cGa>cAa		Homo sapiens lysosomal trafficking regulator (LYST), mRNA.							85.0	83.0	84.0					1																	235922440		2203	4300	6503	SO:0001583	missense	1130				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_Non-coding_Transcript|LYST_uc010pxs.1_Non-coding_Transcript	p.R2238Q	NM_000081	NP_000072	Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		22	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	WXS	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.3																			0				breast(4)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	17						c.e6+1		Homo sapiens heat shock 70kDa protein 14 (HSPA14), transcript variant 1, mRNA.							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.2_Missense_Mutation_p.G156R	p.G156_splice	NM_016299	NP_057383	Q0VDF9	HSP7E_HUMAN			6	608	+			156					A8K8F8|B0YIY9|Q9P0X2|Q9UI07	Missense_Mutation	SNP	ENST00000378372.3	37	c.467_splice	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	WXS	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.3		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.0?(37)|p.R55fs*1(5)|p.?(4)|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)	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						c.e8-1		Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.							22.0	23.0	23.0					10																	89720650		2151	4239	6390	SO:0001630	splice_region_variant	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;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)				PTEN_uc021pvw.1_Splice_Site	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)	8	1834	+		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)	268			C2 tensin-type.		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	WXS	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				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						c.(2542-2544)Cgc>Tgc		Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	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)	19	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	WXS	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_ENST00000532434.1_Silent_p.C752C|NELL1_ENST00000298925.5_Silent_p.C827C|NELL1_ENST00000325319.5_Silent_p.C742C|NELL1_ENST00000529218.1_3'UTR	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																																						uc009yid.3																			0				NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						c.(2479-2481)tgT>tgC		Homo sapiens NEL-like 1 (chicken) (NELL1), transcript variant 1, mRNA.							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_uc010rdp.2_Silent_p.C512C|NELL1_uc001mqe.3_Silent_p.C799C|NELL1_uc001mqf.3_Silent_p.C752C|NELL1_uc010rdo.2_Silent_p.C742C|NELL1_uc001mqh.3_Silent_p.C344C	p.C827C	NM_006157	NP_006148	Q92832	NELL1_HUMAN			20	2634	+			799					B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Silent	SNP	ENST00000357134.5	37	c.2481T>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	WXS	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.2																			0				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						c.(370-372)tTc>tCc		Homo sapiens olfactory receptor, family 5, subfamily D, member 18 (OR5D18), mRNA.							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			0	371	+		all_epithelial(135;0.208)	124					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	WXS	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.3																			0				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						c.(733-735)aAg>aGg		Homo sapiens pannexin 3 (PANX3), mRNA.							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)	3	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						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	WXS	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																																						uc001rfh.3																			0				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						c.(3436-3438)Ttt>Att		Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	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_uc001rfi.1_Missense_Mutation_p.F1146I	p.F1146I	NM_020297	NP_064693	O60706	ABCC9_HUMAN			26	3456	-			1146			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	WXS	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.3																		ETV6/ITPR2(2)	0				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						c.(2485-2487)aGg>aAg		Homo sapiens inositol 1,4,5-trisphosphate receptor, type 2 (ITPR2), mRNA.							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			19	2903	-	Colorectal(261;0.0847)		829					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	WXS	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.2																			0				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						c.(4966-4968)gcC>gcG		Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.							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)	31	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	WXS	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.3																			0				breast(1)|lung(1)	2						c.(790-792)tAt>tGt		Homo sapiens suppressor of defective silencing 3 homolog (S. cerevisiae) (SUDS3), mRNA.							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			9	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	WXS	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.3		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.0?(15)|p.?(8)|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)	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	GRCh37	CM900192|CX011720	RB1	M|X	rs3092891	c.e14-1		Homo sapiens retinoblastoma 1 (RB1), mRNA.	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_splice	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.1333_splice	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	WXS	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											c.(187-189)aAg>aTg		Homo sapiens golgin A8 family, member D, pseudogene (GOLGA8DP), non-coding RNA.																																						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						abParts_uc001yuj.2_Intron|GOLGA8DP_uc010axx.2_Missense_Mutation_p.K63M|DQ588687_uc010tzw.1_5'Flank|DQ582939_uc021sfj.1_5'Flank	p.K63M							9	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	WXS	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.3																			0				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						c.(190-192)Gcc>Acc		Homo sapiens thrombospondin 1 (THBS1), mRNA.	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)	2	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			Heparin-binding.|TSP N-terminal.		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	WXS	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.3																			0				endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24						c.(2029-2031)cGg>cAg		Homo sapiens congenital dyserythropoietic anemia, type I (CDAN1), mRNA.							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.3_Non-coding_Transcript|CDAN1_uc001zqk.3_Missense_Mutation_p.G3R	p.R677Q	NM_138477	NP_612486	Q8IWY9	CDAN1_HUMAN		GBM - Glioblastoma multiforme(94;2.49e-07)	13	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	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr15:78208916C>G	ENST00000565869.1	+	0	53				RN7SL214P_ENST00000487317.2_RNA|RP11-114H24.2_ENST00000567226.1_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											c.(817-819)Gaa>Caa		Homo sapiens golgi autoantigen, golgin subfamily a, 6 pseudogene (LOC645752), non-coding RNA.																																						645752							g.chr15:78208916C>G																													15.37:g.78208916C>G						LOC645752_uc010umq.1_5'Flank|DQ572823_uc002bcw.1_5'Flank|DQ582073_uc002bcx.1_5'Flank	p.E273Q							13	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	WXS	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				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						c.(1057-1059)Ctg>Atg		Homo sapiens zinc finger, CCHC domain containing 14 (ZCCHC14), mRNA.							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_Non-coding_Transcript|ZCCHC14_uc002fkb.3_Missense_Mutation_p.L129M	p.L353M	NM_015144	NP_055959	Q8WYQ9	ZCH14_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0285)	8	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	WXS	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.3																			0		p.N1069D(2)		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						c.(3205-3207)aAt>aGt		Homo sapiens PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae) (PRPF8), mRNA.							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)	20	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	WXS	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	RP11-311F12.2_ENST00000580884.1_RNA|ALDH3A1_ENST00000225740.6_Missense_Mutation_p.A233T|ALDH3A1_ENST00000485231.1_5'Flank|ALDH3A1_ENST00000395555.3_Missense_Mutation_p.A233T|ALDH3A1_ENST00000494157.2_Missense_Mutation_p.A160T|ALDH3A1_ENST00000444455.1_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					uc002gwk.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13						c.(1048-1050)Gcc>Acc		Homo sapiens aldehyde dehydrogenase 3 family, member A1 (ALDH3A1), transcript variant 2, mRNA.	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|aldehyde dehydrogenase (NAD) activity	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_uc010cqu.3_Missense_Mutation_p.A233T|ALDH3A1_uc010vzd.2_Missense_Mutation_p.A233T|ALDH3A1_uc002gwj.3_Missense_Mutation_p.A233T|ALDH3A1_uc010cqv.3_Missense_Mutation_p.A233T|ALDH3A1_uc002gwl.1_Missense_Mutation_p.A160T	p.A350T			P30838	AL3A1_HUMAN		Colorectal(15;0.0829)	3	1311	-	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.1048G>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	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr17:27287691T>A	ENST00000317338.12	-	7	1838		c.e7-2		PIPOX_ENST00000583215.1_Intron|SEZ6_ENST00000442608.3_Splice_Site|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				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29						c.e7-1		Homo sapiens seizure related 6 homolog (mouse) (SEZ6), transcript variant 1, mRNA.							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)		470			CUB 1.		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	WXS	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.4																			0		p.A393V(1)		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						c.(1180-1182)Ctg>Ttg		Homo sapiens keratin 9 (KRT9), mRNA.							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.2_Intron	p.L394L	NM_000226	NP_000217	P35527	K1C9_HUMAN			5	1246	-		Breast(137;0.000307)	394			Coil 2.|Rod.		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	WXS	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_ENST00000590281.1_Missense_Mutation_p.V91I|C19orf40_ENST00000589646.1_De_novo_Start_OutOfFrame|CEP89_ENST00000305768.5_5'Flank|CEP89_ENST00000591863.1_5'Flank|C19orf40_ENST00000590179.1_De_novo_Start_OutOfFrame|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.4																			0				endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7						c.(271-273)Gtt>Att	Direct reversal of damage	Homo sapiens chromosome 19 open reading frame 40 (C19orf40), mRNA.							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					CEP89_uc002nty.3_5'Flank|CEP89_uc010edg.3_5'Flank|CEP89_uc002nua.3_5'Flank|CEP89_uc002nuc.1_5'Flank	p.V91I	NM_152266	NP_689479	Q9BTP7	FAP24_HUMAN			3	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	WXS	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																																						uc010xwe.2																			0				endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	10						c.(580-582)tgC>tgT		Homo sapiens DMRT-like family C2 (DMRTC2), mRNA.							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_uc002ors.3_Silent_p.C194C	p.C194C	NM_001040283	NP_001035373	Q8IXT2	DMRTD_HUMAN			4	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	WXS	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																																						uc021vjh.1																			0				breast(2)|central_nervous_system(1)|endometrium(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)	13						c.(1057-1059)aCg>aTg		Homo sapiens F-box protein 41 (FBXO41), mRNA.							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.T353M	NM_001080410	NP_001073879	Q8TF61	FBX41_HUMAN			1	1148	-			353					G3V0Z7|Q2M1V8	Missense_Mutation	SNP	ENST00000521871.1	37	c.1058C>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	WXS	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.2																			2	Substitution - Missense(2)	p.V187I(3)	endometrium(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						c.(559-561)Gta>Ata		Homo sapiens sodium channel, voltage-gated, type VII, alpha (SCN7A), transcript variant 1, mRNA.							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.2_Non-coding_Transcript	p.V187I	NM_002976	NP_002967	Q01118	SCN7A_HUMAN			4	689	-			187						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	WXS	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.3																			0				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						c.(1369-1371)ggC>ggT		Homo sapiens CD93 molecule (CD93), mRNA.							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			0	1519	-	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)		457			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	WXS	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.3				Dom	yes		20	20q12-q13.1	7150	T	topoisomerase (DNA) I			L	NUP98		AML*		0				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						c.(190-195)aaggag>aag		Homo sapiens topoisomerase (DNA) I (TOP1), mRNA.	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_Non-coding_Transcript	p.E65del	NM_003286	NP_003277	P11387	TOP1_HUMAN			3	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	WXS	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)	p.E101*(2)	lung(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						c.(301-303)gagfs		Homo sapiens doublecortin-like kinase 3 (DCLK3), mRNA.																																				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			1	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	WXS	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.4																			0		p.A639A(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						c.(1915-1917)gCg>gTg		Homo sapiens solute carrier organic anion transporter family, member 2A1 (SLCO2A1), mRNA.		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						p.A639V	NM_005630	NP_005621	Q92959	SO2A1_HUMAN			13	2190	-			639					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	WXS	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_ENST00000491873.1_Missense_Mutation_p.K2E|DNAJC19_ENST00000486355.1_Missense_Mutation_p.K27E|DNAJC19_ENST00000479269.1_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.3																			0				large_intestine(2)|lung(1)	3						c.(79-81)Aag>Gag		Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 19 (DNAJC19), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.							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_uc021xhv.1_Missense_Mutation_p.K2E|DNAJC19_uc021xhw.1_Missense_Mutation_p.K2E|DNAJC19_uc021xhx.1_Non-coding_Transcript|DNAJC19_uc003fku.3_Non-coding_Transcript	p.K27E	NM_145261	NP_001177162	Q96DA6	TIM14_HUMAN	Epithelial(37;3.05e-36)|OV - Ovarian serous cystadenocarcinoma(80;1.55e-22)		2	251	-	all_cancers(143;3.12e-14)|Ovarian(172;0.0212)		27					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	WXS	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.3																			0											c.(22-24)ccA>ccG		Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 2 (SDHAP2), non-coding RNA.																																						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_Non-coding_Transcript|SDHAP2_uc003fuv.3_Non-coding_Transcript	p.P8P							8	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	WXS	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		p.V233V(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33						c.(697-699)Gtg>Atg		Homo sapiens leucine-rich repeat LGI family, member 2 (LGI2), mRNA.							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			6	796	-		Breast(46;0.173)	233					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	WXS	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				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						c.(4471-4473)gCt>gAt		Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.							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)	17	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	WXS	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.4																			0				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						c.(817-819)Gca>Aca		Homo sapiens solute carrier family 6 (neutral amino acid transporter), member 19 (SLC6A19), mRNA.		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)		5	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					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	WXS	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.3																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	GRCh37	CM005507	SLC6A3	M	rs28364997	c.(1675-1677)gCg>gTg		Homo sapiens solute carrier family 6 (neurotransmitter transporter, dopamine), member 3 (SLC6A3), mRNA.	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)		12	1802	-			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	WXS	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				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						c.(3556-3558)gaC>gaT		Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA.							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			18	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	WXS	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.3																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7						c.(16-18)aaG>aaA		Homo sapiens histone cluster 1, H4g (HIST1H4G), mRNA.							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			0	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	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr6:29641134C>T	ENST00000376917.3	+	0	2160				ZFP57_ENST00000376883.1_Missense_Mutation_p.V232I|ZFP57_ENST00000376881.3_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.2																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5)	44						c.(754-756)Gtc>Atc		Homo sapiens zinc finger protein 57 homolog (mouse) (ZFP57), mRNA.							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							p.V252I	NM_001109809	NP_001103279	Q9NU63	ZFP57_HUMAN			3	905	-			168					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	WXS	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_ENST00000259751.1_Splice_Site|TJAP1_ENST00000372444.2_Splice_Site|TJAP1_ENST00000436109.2_Splice_Site|TJAP1_ENST00000372449.1_Splice_Site|TJAP1_ENST00000483640.1_Splice_Site|TJAP1_ENST00000372452.1_Splice_Site|TJAP1_ENST00000438588.2_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				cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|urinary_tract(2)	21						c.e7-1		Homo sapiens tight junction associated protein 1 (peripheral) (TJAP1), transcript variant 1, mRNA.							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.2_Splice_Site|TJAP1_uc003ovi.2_5'UTR	p.R97_splice	NM_001146016	NP_001139489	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)		97					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	WXS	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_ENST00000368632.2_Frame_Shift_Del_p.KA414fs|HDAC2_ENST00000398283.2_Frame_Shift_Del_p.KA538fs			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.2																			0				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						c.(1330-1335)aaagctfs		Homo sapiens histone deacetylase 2 (HDAC2), transcript variant 1, mRNA.	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.2_Frame_Shift_Del_p.K414fs|HDAC2_uc003pwe.2_Frame_Shift_Del_p.K414fs	p.K444fs	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)	11	1617_1620	-		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)	444					B3KRS5|B4DL58|E1P561|Q5SRI8|Q5SZ86|Q8NEH4	Frame_Shift_Del	DEL	ENST00000519065.1	37	c.1330_1333delAAAG	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	WXS	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.3																			0				breast(1)|large_intestine(7)|lung(5)|prostate(1)	14						c.(859-861)Ccc>Tcc		Homo sapiens hairy/enhancer-of-split related with YRPW motif 2 (HEY2), mRNA.							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.2_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)	4	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	WXS	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	HOXA5_ENST00000222726.3_5'Flank|HOXA-AS3_ENST00000521197.1_RNA|HOXA-AS3_ENST00000518947.2_RNA|HOXA6_ENST00000521478.1_5'UTR|HOXA-AS3_ENST00000521231.1_RNA|RP1-170O19.23_ENST00000498652.1_RNA|RP1-170O19.22_ENST00000467897.2_RNA|HOXA-AS3_ENST00000518848.1_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.2																			0				central_nervous_system(1)|large_intestine(5)|lung(3)|ovary(1)	10						c.(544-546)Cgg>Tgg		Homo sapiens homeobox A6 (HOXA6), mRNA.							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					HOXA-AS3_uc003syr.2_Intron|HOXA5_uc003syn.2_5'Flank|HOXA-AS3_uc003syp.2_5'Flank	p.R182W	NM_024014	NP_076919	P31267	HXA6_HUMAN			1	569	-			182					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	WXS	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_ENST00000474412.1_3'UTR|CCDC132_ENST00000544910.1_Missense_Mutation_p.L855S|CCDC132_ENST00000535481.1_Missense_Mutation_p.L605S|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.3																			0				endometrium(1)|large_intestine(2)|lung(5)	8						c.(2653-2655)tTa>tCa		Homo sapiens coiled-coil domain containing 132 (CCDC132), transcript variant 1, mRNA.							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_uc003ump.3_Missense_Mutation_p.L855S|CCDC132_uc003umr.3_Non-coding_Transcript|CCDC132_uc011khz.2_Missense_Mutation_p.L605S	p.L885S	NM_017667	NP_060137	Q96JG6	CC132_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		26	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	WXS	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																																						uc003uno.3																			0				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1)	21						c.(274-276)Atg>Gtg		Homo sapiens paternally expressed 10 (PEG10), transcript variant 1, mRNA.							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					PEG10_uc011kie.2_Missense_Mutation_p.M168V|PEG10_uc022ahn.1_Missense_Mutation_p.M92V	p.M92V	NM_015068	NP_055883	Q86TG7	PEG10_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		1	753	+	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.274A>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	WXS	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				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)	11						c.(250-252)aAc>aGc		Homo sapiens olfactory receptor, family 2, subfamily AE, member 1 (OR2AE1), mRNA.							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			0	251	-	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)		84					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	WXS	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_ENST00000255992.10_Silent_p.G1007G|KRBA1_ENST00000479560.1_3'UTR|KRBA1_ENST00000319551.8_Silent_p.G947G			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.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27						c.(3019-3021)ggA>ggT		Homo sapiens KRAB-A domain containing 1 (KRBA1), mRNA.							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.3_Non-coding_Transcript|KRBA1_uc003wga.3_Non-coding_Transcript|KRBA1_uc003wgb.3_Silent_p.G615G	p.G1007G	NM_032534	NP_115923	A5PL33	KRBA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		17	3420	+	Melanoma(164;0.165)|Ovarian(565;0.177)		1008					A7E2F5|E7ENE9|Q8N4X0|Q96JG5	Silent	SNP	ENST00000485033.2	37	c.3021A>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	WXS	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_ENST00000265709.8_Missense_Mutation_p.R1870H|ANK1_ENST00000352337.4_Intron|ANK1_ENST00000379758.2_Intron|ANK1_ENST00000396945.1_Intron|ANK1_ENST00000522543.1_Missense_Mutation_p.R104H|MIR486_ENST00000408108.1_RNA|RP11-930P14.1_ENST00000585088.1_RNA|ANK1_ENST00000289734.7_Missense_Mutation_p.R1829H|ANK1_ENST00000457297.1_Intron|ANK1_ENST00000396942.1_Missense_Mutation_p.R1829H|ANK1_ENST00000522231.1_Missense_Mutation_p.R104H|RP11-930P14.1_ENST00000520418.1_RNA|RP11-930P14.1_ENST00000522388.1_RNA|ANK1_ENST00000314214.8_Missense_Mutation_p.R104H	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.3																			0				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						c.(5485-5487)cGc>cAc		Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.							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.3_Missense_Mutation_p.R983H|ANK1_uc003xoi.3_Missense_Mutation_p.R1829H|ANK1_uc003xoj.3_Missense_Mutation_p.R1829H|ANK1_uc003xol.3_Missense_Mutation_p.R1667H|ANK1_uc003xom.3_Missense_Mutation_p.R1870H|ANK1_uc003xof.3_Intron|ANK1_uc011lcl.2_Missense_Mutation_p.R104H|ANK1_uc003xod.3_Missense_Mutation_p.R104H|ANK1_uc003xoc.3_Missense_Mutation_p.R104H|MIR486_uc022auh.1_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)		40	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			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	WXS	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.3																			0				endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(496-498)cTa>cCa		Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 3 (SLC28A3), transcript variant 1, mRNA.							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.2_Missense_Mutation_p.L97P|SLC28A3_uc004anu.2_Missense_Mutation_p.L166P|SLC28A3_uc010mqb.3_Missense_Mutation_p.L97P	p.L166P	NM_001199633	NP_001186562	Q9HAS3	S28A3_HUMAN			4	643	-			166					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	WXS	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.4																			0				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	25						c.(1324-1326)aAc>aTc		Homo sapiens N(alpha)-acetyltransferase 35, NatC auxiliary subunit (NAA35), mRNA.							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.4_Missense_Mutation_p.N442I	p.N442I	NM_024635	NP_078911	Q5VZE5	NAA35_HUMAN			15	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	WXS	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.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	13						c.(517-519)agC>agT		Homo sapiens sushi domain containing 3 (SUSD3), mRNA.		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.3_Silent_p.S160S	p.S173S	NM_145006	NP_659443	Q96L08	SUSD3_HUMAN			3	555	+			173					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	WXS	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				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	27						c.e20-1		Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 31 (DDX31), transcript variant 1, mRNA.																																				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	-			770					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	WXS	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				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						c.(667-669)Tgg>Cgg		Homo sapiens DDB1 and CUL4 associated factor 8-like 1 (DCAF8L1), mRNA.							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			0	782	-			223					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	WXS	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.3				Dom	yes		X	Xq13	9968	"""M, S"""	mediator complex subunit 12	Yes	Opitz-Kaveggia Syndrome	M			uterine leiomyoma		0				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						c.(865-867)Cag>Tag		Homo sapiens mediator complex subunit 12 (MED12), mRNA.							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.3_Nonsense_Mutation_p.Q289*|MED12_uc004dza.3_Nonsense_Mutation_p.Q136*	p.Q289*	NM_005120	NP_005111	Q93074	MED12_HUMAN			6	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	WXS	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																																						uc022chf.1																			0				breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28						c.(811-813)tTc>tAc		Homo sapiens melanoma antigen family A, 6 (MAGEA6), transcript variant 2, mRNA.							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_uc004ffq.1_Missense_Mutation_p.F271Y|MAGEA6_uc004ffr.1_Missense_Mutation_p.F271Y	p.F271Y	NM_175868	NP_787064	P43360	MAGA6_HUMAN			0	812	+	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	
