#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
SLC26A1	10861	broad.mit.edu	37	4	982659	982659	+	Missense_Mutation	SNP	G	G	A	rs548078722		TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr4:982659G>A	ENST00000361661.2	-	4	2445	c.2068C>T	c.(2068-2070)Cgc>Tgc	p.R690C	SLC26A1_ENST00000513138.1_5'Flank|SLC26A1_ENST00000398520.2_Intron|SLC26A1_ENST00000398516.2_Missense_Mutation_p.R690C|IDUA_ENST00000453894.1_Intron|IDUA_ENST00000247933.4_Intron|IDUA_ENST00000509744.1_Intron	NM_213613.2	NP_998778.1	Q9H2B4	S26A1_HUMAN	solute carrier family 26 (anion exchanger), member 1	690					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|chloride transport (GO:0006821)|glycosaminoglycan metabolic process (GO:0030203)|ion transport (GO:0006811)|oxalate transport (GO:0019532)|small molecule metabolic process (GO:0044281)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	anion:anion antiporter activity (GO:0015301)|chloride transmembrane transporter activity (GO:0015108)|oxalate transmembrane transporter activity (GO:0019531)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			central_nervous_system(1)|endometrium(4)|pancreas(1)|prostate(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			TCCCTGTGGCGGGCTCGTGCT	0.677													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16966	0.0		0.0	False		,,,				2504	0.0					ENST00000361661.2																			0				central_nervous_system(1)|endometrium(4)|pancreas(1)|prostate(1)|skin(1)	8						c.(2068-2070)Cgc>Tgc		solute carrier family 26 (anion exchanger), member 1							17.0	15.0	16.0					4																	982659		2168	4259	6427	SO:0001583	missense	10861					integral to membrane|plasma membrane	secondary active sulfate transmembrane transporter activity	g.chr4:982659G>A	AF297659	CCDS33933.1, CCDS33934.1	4p16.3	2013-07-18	2013-07-18		ENSG00000145217	ENSG00000145217		"""Solute carriers"""	10993	protein-coding gene	gene with protein product		610130	"""solute carrier family 26 (sulfate transporter), member 1"""				Standard	NM_213613		Approved	SAT-1, EDM4	uc003gcc.3	Q9H2B4	OTTHUMG00000160003	ENST00000361661.2:c.2068C>T	4.37:g.982659G>A	ENSP00000354721:p.Arg690Cys					SLC26A1_ENST00000398520.2_Intron|IDUA_ENST00000509744.1_Intron|IDUA_ENST00000453894.1_Intron|SLC26A1_ENST00000398516.2_Missense_Mutation_p.R690C|IDUA_ENST00000247933.4_Intron	p.R690C	NM_213613.2	NP_998778.1	Q9H2B4	S26A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		4	2445	-			690					A8K9N2|Q7Z5R3|Q96BK0	Missense_Mutation	SNP	ENST00000361661.2	37	c.2068C>T	CCDS33934.1	.	.	.	.	.	.	.	.	.	.	G	11.13	1.549002	0.27652	.	.	ENSG00000145217	ENST00000361661;ENST00000398516	D;D	0.94092	-3.35;-3.35	4.13	2.1	0.27182	Sulphate transporter/antisigma-factor antagonist STAS (1);	0.515553	0.20765	N	0.086092	D	0.90665	0.7072	L	0.42686	1.345	0.30314	N	0.788216	D	0.61080	0.989	P	0.49502	0.613	D	0.87097	0.2176	10	0.66056	D	0.02	.	7.4507	0.27237	0.0:0.1487:0.6267:0.2246	.	690	Q9H2B4	S26A1_HUMAN	C	690	ENSP00000354721:R690C;ENSP00000381528:R690C	ENSP00000354721:R690C	R	-	1	0	SLC26A1	972659	0.111000	0.22076	0.965000	0.40720	0.180000	0.23129	-0.129000	0.10515	0.729000	0.32403	-0.371000	0.07208	CGC		0.677	SLC26A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358783.1	NM_022042, NM_134425		3	23	0	0	0	1	0	3	23				
DHRS7B	25979	broad.mit.edu	37	17	21075510	21075510	+	Splice_Site	SNP	G	G	T			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr17:21075510G>T	ENST00000395511.3	+	2	519		c.e2+1		DHRS7B_ENST00000579303.1_Splice_Site	NM_015510.4	NP_056325.2	Q6IAN0	DRS7B_HUMAN	dehydrogenase/reductase (SDR family) member 7B							endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	oxidoreductase activity (GO:0016491)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|pancreas(2)	7						CTGGGCAAAGGTGGGTCCTGG	0.677																																						ENST00000395511.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|pancreas(2)	7						c.e2+1		dehydrogenase/reductase (SDR family) member 7B							16.0	17.0	17.0					17																	21075510		2203	4300	6503	SO:0001630	splice_region_variant	25979					integral to membrane|peroxisomal membrane	binding|oxidoreductase activity	g.chr17:21075510G>T	BC004126	CCDS11215.1	17p12	2011-09-20				ENSG00000109016		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	24547	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 32C, member 1"""					10810093, 11230166, 19027726	Standard	NM_015510		Approved	DKFZp566O084, MGC8916, CGI-93, SDR32C1	uc002gyo.3	Q6IAN0		ENST00000395511.3:c.199+1G>T	17.37:g.21075510G>T						DHRS7B_ENST00000579303.1_Splice_Site		NM_015510.4	NP_056325.2	Q6IAN0	DRS7B_HUMAN			2	519	+								B5MEF4|Q6UX59|Q9BTF9|Q9UFM6|Q9Y3A1	Splice_Site	SNP	ENST00000395511.3	37		CCDS11215.1	.	.	.	.	.	.	.	.	.	.	G	15.70	2.910798	0.52439	.	.	ENSG00000109016	ENST00000395511;ENST00000346603	.	.	.	5.49	5.49	0.81192	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3707	0.94481	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DHRS7B	21016102	1.000000	0.71417	0.984000	0.44739	0.474000	0.32979	7.434000	0.80377	2.586000	0.87340	0.655000	0.94253	.		0.677	DHRS7B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000444066.3	NM_015510	Intron	16	0	1	0	6.94344e-10	1	8.1264e-10	16	0				
KRTAP4-6	81871	broad.mit.edu	37	17	39296282	39296282	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr17:39296282G>T	ENST00000345847.4	-	1	457	c.458C>A	c.(457-459)tCt>tAt	p.S153Y		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	153	30 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP].					keratin filament (GO:0045095)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						ttcacagcaagaggggcggca	0.662																																						ENST00000345847.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						c.(457-459)tCt>tAt		keratin associated protein 4-6																																				SO:0001583	missense	81871					keratin filament		g.chr17:39296282G>T	AJ406938	CCDS54125.1	17q21.2	2013-06-25			ENSG00000198090	ENSG00000198090		"""Keratin associated proteins"""	18909	protein-coding gene	gene with protein product			"""keratin associated protein 4-15"""	KRTAP4-15			Standard	NM_030976		Approved	KAP4.6, KAP4.15	uc010cxk.2	Q9BYQ5	OTTHUMG00000133634	ENST00000345847.4:c.458C>A	17.37:g.39296282G>T	ENSP00000328270:p.Ser153Tyr						p.S153Y	NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN			1	457	-			149			29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP].		Q9BYR1	Missense_Mutation	SNP	ENST00000345847.4	37	c.458C>A	CCDS54125.1	.	.	.	.	.	.	.	.	.	.	.	10.39	1.337834	0.24253	.	.	ENSG00000198090	ENST00000345847	T	0.01838	4.61	3.93	-1.16	0.09678	.	.	.	.	.	T	0.05181	0.0138	M	0.83012	2.62	0.09310	N	1	.	.	.	.	.	.	T	0.30297	-0.9983	7	0.27785	T	0.31	.	4.1853	0.10395	0.0937:0.4543:0.2973:0.1547	.	.	.	.	Y	153	ENSP00000328270:S153Y	ENSP00000328270:S153Y	S	-	2	0	KRTAP4-6	36549808	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.680000	0.01939	-0.014000	0.14175	-1.066000	0.02275	TCT		0.662	KRTAP4-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257779.1			6	262	1	0	0.0293803	1	0.0295675	6	262				
TRHDE	29953	broad.mit.edu	37	12	72956730	72956730	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr12:72956730C>G	ENST00000261180.4	+	9	1913	c.1817C>G	c.(1816-1818)aCa>aGa	p.T606R	TRHDE_ENST00000549138.1_3'UTR	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	606					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						TTGGGAAACACAACAGCAGAA	0.328																																						ENST00000261180.4																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						c.(1816-1818)aCa>aGa		thyrotropin-releasing hormone degrading enzyme							94.0	99.0	97.0					12																	72956730		2203	4296	6499	SO:0001583	missense	29953				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr12:72956730C>G	AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"""pyroglutamyl-peptidase II"", ""pyroglutamyl aminopeptidase II"", ""TRH-specific aminopeptidase"""	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.1817C>G	12.37:g.72956730C>G	ENSP00000261180:p.Thr606Arg					TRHDE_ENST00000549138.1_3'UTR	p.T606R	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN			9	1913	+			606					A5PL19|Q6UWJ4	Missense_Mutation	SNP	ENST00000261180.4	37	c.1817C>G	CCDS9004.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.75|11.75	1.732588|1.732588	0.30684|0.30684	.|.	.|.	ENSG00000072657|ENSG00000072657	ENST00000547300|ENST00000261180	.|T	.|0.01335	.|5.0	6.17|6.17	-0.118|-0.118	0.13547|0.13547	.|.	.|0.465094	.|0.23991	.|N	.|0.042564	T|T	0.00875|0.00875	0.0029|0.0029	N|N	0.25485|0.25485	0.75|0.75	0.27208|0.27208	N|N	0.959987|0.959987	.|B	.|0.12630	.|0.006	.|B	.|0.14023	.|0.01	T|T	0.47129|0.47129	-0.9141|-0.9141	5|10	.|0.12766	.|T	.|0.61	.|.	0.941|0.941	0.01355|0.01355	0.2418:0.3561:0.1006:0.3015|0.2418:0.3561:0.1006:0.3015	.|.	.|606	.|Q9UKU6	.|TRHDE_HUMAN	Q|R	193|606	.|ENSP00000261180:T606R	.|ENSP00000261180:T606R	H|T	+|+	3|2	2|0	TRHDE|TRHDE	71242997|71242997	0.936000|0.936000	0.31750|0.31750	0.967000|0.967000	0.41034|0.41034	0.773000|0.773000	0.43773|0.43773	0.745000|0.745000	0.26259|0.26259	0.178000|0.178000	0.19917|0.19917	0.655000|0.655000	0.94253|0.94253	CAC|ACA		0.328	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381		32	35	0	0	0	1	0	32	35				
HDAC10	83933	broad.mit.edu	37	22	50686488	50686488	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr22:50686488C>A	ENST00000216271.5	-	13	1520	c.1168G>T	c.(1168-1170)Gca>Tca	p.A390S	MAPK12_ENST00000497036.1_5'UTR|HDAC10_ENST00000498366.1_5'UTR|HDAC10_ENST00000349505.4_Missense_Mutation_p.A370S|HDAC10_ENST00000448072.1_Missense_Mutation_p.A340S	NM_001159286.1|NM_032019.5	NP_001152758.1|NP_114408.3	Q969S8	HDA10_HUMAN	histone deacetylase 10	390					chromatin modification (GO:0016568)|histone deacetylation (GO:0016575)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|oligodendrocyte development (GO:0014003)|protein deacetylation (GO:0006476)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|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)|protein deacetylase activity (GO:0033558)			endometrium(2)|kidney(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	8		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GATGCAGCTGCCTTACACACT	0.652																																						ENST00000216271.5																			0				endometrium(2)|kidney(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	8						c.(1168-1170)Gca>Tca		histone deacetylase 10							32.0	31.0	31.0					22																	50686488		2202	4297	6499	SO:0001583	missense	83933				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|nucleus	histone deacetylase activity|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)	g.chr22:50686488C>A	AF393962	CCDS14088.1, CCDS54545.1	22q13.31	2008-06-10			ENSG00000100429	ENSG00000100429			18128	protein-coding gene	gene with protein product		608544				11677242, 11726666	Standard	NM_032019		Approved	DKFZP761B039	uc003bkg.3	Q969S8	OTTHUMG00000044647	ENST00000216271.5:c.1168G>T	22.37:g.50686488C>A	ENSP00000216271:p.Ala390Ser					HDAC10_ENST00000498366.1_5'UTR|MAPK12_ENST00000497036.1_5'UTR|HDAC10_ENST00000448072.1_Missense_Mutation_p.A340S|HDAC10_ENST00000349505.4_Missense_Mutation_p.A370S	p.A390S	NM_001159286.1|NM_032019.5	NP_001152758.1|NP_114408.3	Q969S8	HDA10_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	13	1520	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	390					Q08AP4|Q6STF9|Q96P77|Q96P78|Q9H028|Q9UGX1|Q9UGX2	Missense_Mutation	SNP	ENST00000216271.5	37	c.1168G>T	CCDS14088.1	.	.	.	.	.	.	.	.	.	.	C	8.768	0.925153	0.18056	.	.	ENSG00000100429	ENST00000216271;ENST00000448072;ENST00000349505	T;T;T	0.29655	1.56;1.56;1.56	4.48	-0.0904	0.13665	.	2.375910	0.01762	N	0.030611	T	0.22003	0.0530	L	0.39898	1.24	0.19300	N	0.999974	B;B;B;B;B	0.22909	0.003;0.012;0.001;0.077;0.054	B;B;B;B;B	0.17722	0.013;0.005;0.001;0.019;0.013	T	0.07908	-1.0748	10	0.09590	T	0.72	-0.0826	3.9864	0.09517	0.0:0.5217:0.177:0.3013	.	370;380;340;390;390	Q969S8-2;E2QRD2;C9J8B8;Q969S8-4;Q969S8	.;.;.;.;HDA10_HUMAN	S	390;340;370	ENSP00000216271:A390S;ENSP00000397542:A340S;ENSP00000343540:A370S	ENSP00000216271:A390S	A	-	1	0	HDAC10	49028615	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.137000	0.15995	-0.013000	0.14199	-0.216000	0.12614	GCA		0.652	HDAC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104141.4	NM_032019		6	58	1	0	3.59834e-05	1	3.94817e-05	6	58				
REV3L	5980	broad.mit.edu	37	6	111650901	111650901	+	Missense_Mutation	SNP	T	T	G			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr6:111650901T>G	ENST00000358835.3	-	26	8529	c.8075A>C	c.(8074-8076)gAa>gCa	p.E2692A	REV3L_ENST00000435970.1_Missense_Mutation_p.E2614A|REV3L_ENST00000368802.3_Missense_Mutation_p.E2692A|REV3L_ENST00000368805.1_Missense_Mutation_p.E2692A			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	2692					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		CTTCAAAATTTCTTCAAGCAT	0.363								DNA polymerases (catalytic subunits)																														ENST00000435970.1																			0				NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88						c.(7840-7842)gAa>gCa	DNA polymerases (catalytic subunits)	REV3-like, polymerase (DNA directed), zeta, catalytic subunit							109.0	100.0	103.0					6																	111650901		2203	4300	6503	SO:0001583	missense	5980				DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding	g.chr6:111650901T>G	AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"""DNA polymerases"""	9968	protein-coding gene	gene with protein product	"""polymerase, DNA, zeta"""	602776	"""REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta"", ""REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"""			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.8075A>C	6.37:g.111650901T>G	ENSP00000351697:p.Glu2692Ala					REV3L_ENST00000368805.1_Missense_Mutation_p.E2692A|REV3L_ENST00000358835.3_Missense_Mutation_p.E2692A|REV3L_ENST00000368802.3_Missense_Mutation_p.E2692A	p.E2614A			O60673	DPOLZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)	27	8657	-		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)	2692					O43214|Q5TC33	Missense_Mutation	SNP	ENST00000358835.3	37	c.7841A>C	CCDS5091.2	.	.	.	.	.	.	.	.	.	.	T	21.6	4.176755	0.78564	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970	T;T;T;T	0.19806	2.12;2.12;2.12;2.12	5.76	5.76	0.90799	DNA-directed DNA polymerase, family B, multifunctional domain (1);	0.180141	0.48767	D	0.000174	T	0.41166	0.1147	M	0.76938	2.355	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	T	0.43278	-0.9401	10	0.87932	D	0	-9.2604	16.0817	0.81010	0.0:0.0:0.0:1.0	.	2692	O60673	DPOLZ_HUMAN	A	2692;2692;2692;2614	ENSP00000357792:E2692A;ENSP00000357795:E2692A;ENSP00000351697:E2692A;ENSP00000402003:E2614A	ENSP00000351697:E2692A	E	-	2	0	REV3L	111757594	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.945000	0.87732	2.206000	0.71126	0.383000	0.25322	GAA		0.363	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912		27	27	0	0	0	1	0	27	27				
IL1B	3553	broad.mit.edu	37	2	113588102	113588102	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr2:113588102C>A	ENST00000263341.2	-	7	856	c.646G>T	c.(646-648)Gtc>Ttc	p.V216F	IL1B_ENST00000491056.1_5'UTR	NM_000576.2	NP_000567.1	P01584	IL1B_HUMAN	interleukin 1, beta	216					activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|cell-cell signaling (GO:0007267)|cellular response to drug (GO:0035690)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|cellular response to organic substance (GO:0071310)|cytokine-mediated signaling pathway (GO:0019221)|ectopic germ cell programmed cell death (GO:0035234)|embryo implantation (GO:0007566)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fever generation (GO:0001660)|hyaluronan biosynthetic process (GO:0030213)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interleukin-1 beta production (GO:0032611)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MAPK cascade (GO:0000165)|monocyte aggregation (GO:0070487)|negative regulation of adiponectin secretion (GO:0070164)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of MAP kinase activity (GO:0043407)|neutrophil chemotaxis (GO:0030593)|positive regulation of angiogenesis (GO:0045766)|positive regulation of calcidiol 1-monooxygenase activity (GO:0060559)|positive regulation of cell adhesion molecule production (GO:0060355)|positive regulation of cell division (GO:0051781)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of fever generation (GO:0031622)|positive regulation of gene expression (GO:0010628)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of lipid catabolic process (GO:0050996)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of mitosis (GO:0045840)|positive regulation of monocyte chemotactic protein-1 production (GO:0071639)|positive regulation of myosin light chain kinase activity (GO:0035505)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of prostaglandin secretion (GO:0032308)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell mediated immunity (GO:0002711)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein kinase B signaling (GO:0043491)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of insulin secretion (GO:0050796)|response to ATP (GO:0033198)|response to carbohydrate (GO:0009743)|sequestering of triglyceride (GO:0030730)|signal transduction (GO:0007165)|smooth muscle adaptation (GO:0014805)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|secretory granule (GO:0030141)	cytokine activity (GO:0005125)|interleukin-1 receptor binding (GO:0005149)|protein domain specific binding (GO:0019904)			breast(2)|central_nervous_system(1)|large_intestine(1)|lung(8)	12					Canakinumab(DB06168)|Gallium nitrate(DB05260)|Minocycline(DB01017)|Rilonacept(DB06372)	TTGTTGAAGACAAATCGCTTT	0.423																																						ENST00000263341.2																			0				breast(2)|central_nervous_system(1)|large_intestine(1)|lung(8)	12						c.(646-648)Gtc>Ttc		interleukin 1, beta	Anakinra(DB00026)|Minocycline(DB01017)|Procaterol(DB01366)						197.0	192.0	194.0					2																	113588102		2203	4300	6503	SO:0001583	missense	3553				activation of MAPK activity|anti-apoptosis|apoptosis|cell-cell signaling|cellular response to drug|cellular response to mechanical stimulus|cytokine-mediated signaling pathway|embryo implantation|fever generation|negative regulation of adiponectin secretion|negative regulation of cell proliferation|negative regulation of glucose transport|negative regulation of insulin receptor signaling pathway|negative regulation of lipid catabolic process|negative regulation of MAP kinase activity|positive regulation of angiogenesis|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of cell adhesion molecule production|positive regulation of cell division|positive regulation of fever generation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of heterotypic cell-cell adhesion|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of interferon-gamma production|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of lipid catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mitosis|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myosin light chain kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|positive regulation of protein export from nucleus|positive regulation of T cell proliferation|positive regulation vascular endothelial growth factor production|regulation of insulin secretion|sequestering of triglyceride|smooth muscle adaptation	cytosol|extracellular space	cytokine activity|growth factor activity|interleukin-1 receptor binding|protein domain specific binding	g.chr2:113588102C>A	M15330	CCDS2102.1	2q14	2014-01-30			ENSG00000125538	ENSG00000125538		"""Interleukins and interleukin receptors"", ""Endogenous ligands"""	5992	protein-coding gene	gene with protein product		147720				2954882, 2989698	Standard	NM_000576		Approved	IL1F2, IL-1B, IL1-BETA	uc002tii.1	P01584	OTTHUMG00000131344	ENST00000263341.2:c.646G>T	2.37:g.113588102C>A	ENSP00000263341:p.Val216Phe					IL1B_ENST00000491056.1_5'UTR	p.V216F	NM_000576.2	NP_000567.1	P01584	IL1B_HUMAN			7	856	-			216					Q53X59|Q53XX2|Q7M4S7|Q7RU01|Q96HE5|Q9UCT6	Missense_Mutation	SNP	ENST00000263341.2	37	c.646G>T	CCDS2102.1	.	.	.	.	.	.	.	.	.	.	C	19.10	3.761662	0.69763	.	.	ENSG00000125538	ENST00000263341	T	0.18810	2.19	5.39	2.22	0.28083	.	0.280865	0.37577	N	0.002031	T	0.46619	0.1402	M	0.89095	3.005	0.34507	D	0.706674	D	0.89917	1.0	D	0.83275	0.996	T	0.59653	-0.7414	10	0.87932	D	0	-16.6538	6.9133	0.24346	0.0:0.6634:0.0:0.3366	.	216	P01584	IL1B_HUMAN	F	216	ENSP00000263341:V216F	ENSP00000263341:V216F	V	-	1	0	IL1B	113304573	0.986000	0.35501	1.000000	0.80357	0.997000	0.91878	0.159000	0.16442	0.657000	0.30906	0.650000	0.86243	GTC		0.423	IL1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254125.2	NM_000576		5	88	1	0	0.0215528	1	0.0218291	5	88				
NYAP2	57624	broad.mit.edu	37	2	226378110	226378110	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr2:226378110G>T	ENST00000272907.6	+	3	658	c.245G>T	c.(244-246)gGc>gTc	p.G82V	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	82					neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												GTAGGGCGAGGCCACGAAGGA	0.463																																						ENST00000272907.6																			0											c.(244-246)gGc>gTc		neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2							69.0	70.0	70.0					2																	226378110		1991	4166	6157	SO:0001583	missense	57624							g.chr2:226378110G>T	AB040919	CCDS46529.1	2q36.3	2011-11-30	2011-11-30	2011-11-30	ENSG00000144460	ENSG00000144460			29291	protein-coding gene	gene with protein product		615478	"""KIAA1486"""	KIAA1486		10819331, 21946561	Standard	NM_020864		Approved		uc002voe.2	Q9P242	OTTHUMG00000153450	ENST00000272907.6:c.245G>T	2.37:g.226378110G>T	ENSP00000272907:p.Gly82Val					NYAP2_ENST00000409269.2_Intron	p.G82V	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN			3	658	+			82					A2RRN4|Q96NL2	Missense_Mutation	SNP	ENST00000272907.6	37	c.245G>T	CCDS46529.1	.	.	.	.	.	.	.	.	.	.	G	16.36	3.100867	0.56183	.	.	ENSG00000144460	ENST00000272907	T	0.28069	1.63	5.41	4.51	0.55191	.	0.237793	0.33092	N	0.005298	T	0.28366	0.0701	N	0.21448	0.665	0.80722	D	1	P	0.51653	0.947	P	0.47864	0.559	T	0.02132	-1.1208	10	0.30078	T	0.28	-23.4205	15.9545	0.79876	0.0:0.1353:0.8647:0.0	.	82	Q9P242	K1486_HUMAN	V	82	ENSP00000272907:G82V	ENSP00000272907:G82V	G	+	2	0	KIAA1486	226086354	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.274000	0.58921	1.239000	0.43787	0.563000	0.77884	GGC		0.463	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331258.1	NM_020864		17	37	1	0	8.00594e-06	1	9.03527e-06	17	37				
CDHR5	53841	broad.mit.edu	37	11	621243	621243	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr11:621243G>A	ENST00000358353.3	-	8	948	c.626C>T	c.(625-627)cCg>cTg	p.P209L	CDHR5_ENST00000349570.7_Missense_Mutation_p.P209L|CDHR5_ENST00000529337.1_5'Flank|CDHR5_ENST00000397542.2_Missense_Mutation_p.P209L			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	209	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043, ECO:0000305}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						ATTCTCCCCCGGAGTGTCCTG	0.682																																						ENST00000358353.3																			0				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						c.(625-627)cCg>cTg		cadherin-related family member 5							50.0	52.0	51.0					11																	621243		2203	4299	6502	SO:0001583	missense	53841				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:621243G>A	AF258675	CCDS7707.1, CCDS7708.1	11p15.5	2011-07-01	2010-01-25	2010-01-25	ENSG00000099834	ENSG00000099834		"""Cadherins / Cadherin-related"""	7521	protein-coding gene	gene with protein product		606839	"""mucin and cadherin-like"", ""mucin-like protocadherin"""	MUCDHL, MUPCDH		11031102, 10801787	Standard	NM_021924		Approved	FLJ20219, MU-PCDH	uc001lqj.3	Q9HBB8	OTTHUMG00000132018	ENST00000358353.3:c.626C>T	11.37:g.621243G>A	ENSP00000351118:p.Pro209Leu					CDHR5_ENST00000349570.7_Missense_Mutation_p.P209L|CDHR5_ENST00000397542.2_Missense_Mutation_p.P209L	p.P209L			Q9HBB8	CDHR5_HUMAN			8	948	-			209			Cadherin 2.		C9J7X1|Q9H746|Q9HAU3|Q9HBB5|Q9HBB6|Q9HBB7|Q9NX86|Q9NXI9	Missense_Mutation	SNP	ENST00000358353.3	37	c.626C>T	CCDS7707.1	.	.	.	.	.	.	.	.	.	.	G	10.80	1.452852	0.26074	.	.	ENSG00000099834	ENST00000397542;ENST00000358353;ENST00000326366;ENST00000349570	T;T;T	0.37235	1.21;1.21;1.21	3.87	-5.22	0.02806	Cadherin (3);Cadherin-like (1);	3.002300	0.01541	N	0.019226	T	0.19644	0.0472	L	0.34521	1.04	0.09310	N	1	B;B;B;B;B	0.31125	0.134;0.309;0.071;0.071;0.181	B;B;B;B;B	0.19946	0.015;0.027;0.008;0.008;0.015	T	0.07635	-1.0762	10	0.26408	T	0.33	0.1364	1.333	0.02138	0.1255:0.2295:0.3022:0.3428	.	209;209;202;209;209	Q58EZ6;Q9HBB8-4;B4DV98;Q9HBB8-2;Q9HBB8	.;.;.;.;CDHR5_HUMAN	L	209	ENSP00000380676:P209L;ENSP00000351118:P209L;ENSP00000345726:P209L	ENSP00000326527:P209L	P	-	2	0	CDHR5	611243	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-2.307000	0.01132	-0.478000	0.06823	0.561000	0.74099	CCG		0.682	CDHR5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255023.2	NM_021924		20	43	0	0	0	1	0	20	43				
PLCXD1	55344	broad.mit.edu	37	X	215882	215882	+	Silent	SNP	C	C	T			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chrX:215882C>T	ENST00000381657.2	+	7	1366	c.852C>T	c.(850-852)gtC>gtT	p.V284V	PLCXD1_ENST00000381663.3_Silent_p.V284V|PLCXD1_ENST00000399012.1_Silent_p.V284V	NM_018390.3	NP_060860.1	Q9NUJ7	PLCX1_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 1	284					lipid metabolic process (GO:0006629)		phosphoric diester hydrolase activity (GO:0008081)			endometrium(3)|large_intestine(1)|lung(7)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GCGCGTGGGTCCGAGAGCAGT	0.647																																						ENST00000381657.2																			0				endometrium(3)|large_intestine(1)|lung(7)	11						c.(850-852)gtC>gtT		phosphatidylinositol-specific phospholipase C, X domain containing 1							96.0	89.0	91.0					X																	215882		2203	4296	6499	SO:0001819	synonymous_variant	55344				intracellular signal transduction|lipid metabolic process		phospholipase C activity	g.chrX:215882C>T	AK002185	CCDS14103.1	Xp22.33 and Yp11.32	2010-07-28			ENSG00000182378	ENSG00000182378		"""Pseudoautosomal regions / PAR1"""	23148	protein-coding gene	gene with protein product							Standard	NM_018390		Approved	FLJ11323	uc004cpc.3	Q9NUJ7	OTTHUMG00000022693	ENST00000381657.2:c.852C>T	X.37:g.215882C>T						PLCXD1_ENST00000399012.1_Silent_p.V284V|PLCXD1_ENST00000381663.3_Silent_p.V284V	p.V284V	NM_018390.3	NP_060860.1	Q9NUJ7	PLCX1_HUMAN			7	1366	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	284					A2BH51|A2BH52	Silent	SNP	ENST00000381657.2	37	c.852C>T	CCDS14103.1																																																																																				0.647	PLCXD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058879.2	NM_018390		9	74	0	0	0	1	0	9	74				
ZBTB7B	51043	broad.mit.edu	37	1	154988736	154988736	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr1:154988736G>C	ENST00000368426.3	+	4	1332	c.1195G>C	c.(1195-1197)Gag>Cag	p.E399Q	ZBTB7B_ENST00000417934.2_Missense_Mutation_p.E433Q|ZBTB7B_ENST00000292176.2_Missense_Mutation_p.E399Q|ZBTB7B_ENST00000535420.1_Missense_Mutation_p.E399Q	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	399					cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GCACACGGGAGAGCGCCCCTA	0.632																																						ENST00000368426.3																			0				endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29						c.(1195-1197)Gag>Cag		zinc finger and BTB domain containing 7B							108.0	95.0	100.0					1																	154988736		2203	4300	6503	SO:0001583	missense	51043				cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr1:154988736G>C	AF007833	CCDS1081.1, CCDS58030.1	1q21.2	2013-01-08		2005-04-07	ENSG00000160685	ENSG00000160685		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	18668	protein-coding gene	gene with protein product	"""zinc finger and BTB domain containing 15"""	607646	"""zinc finger protein 67 homolog (mouse)"""	ZFP67		9370309, 7937772	Standard	NR_045515		Approved	ZBTB15, c-Krox, hcKrox, ZNF857B	uc010peq.3	O15156	OTTHUMG00000037414	ENST00000368426.3:c.1195G>C	1.37:g.154988736G>C	ENSP00000357411:p.Glu399Gln					ZBTB7B_ENST00000292176.2_Missense_Mutation_p.E399Q|ZBTB7B_ENST00000417934.2_Missense_Mutation_p.E433Q|ZBTB7B_ENST00000535420.1_Missense_Mutation_p.E399Q	p.E399Q	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		4	1332	+	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		399					B4E3K5|D3DV83|J3KQQ3|Q68DR2|Q96EP2	Missense_Mutation	SNP	ENST00000368426.3	37	c.1195G>C	CCDS1081.1	.	.	.	.	.	.	.	.	.	.	g	16.72	3.201904	0.58234	.	.	ENSG00000160685	ENST00000535420;ENST00000368426;ENST00000417934;ENST00000292176	T;T;T;T	0.25912	1.77;1.77;1.77;1.77	3.87	3.87	0.44632	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	U	0.000001	T	0.37865	0.1019	M	0.64080	1.96	0.46279	D	0.998965	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77557	0.99;0.99;0.99	T	0.28004	-1.0057	10	0.72032	D	0.01	.	13.6873	0.62524	0.0:0.0:1.0:0.0	.	399;399;433	A8K6F4;O15156;B4E3K5	.;ZBT7B_HUMAN;.	Q	399;399;433;399	ENSP00000438647:E399Q;ENSP00000357411:E399Q;ENSP00000406286:E433Q;ENSP00000292176:E399Q	ENSP00000292176:E399Q	E	+	1	0	ZBTB7B	153255360	1.000000	0.71417	0.998000	0.56505	0.366000	0.29705	9.473000	0.97714	2.162000	0.67917	0.457000	0.33378	GAG		0.632	ZBTB7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091083.1	NM_015872		49	76	0	0	0	1	0	49	76				
CSMD3	114788	broad.mit.edu	37	8	113318340	113318340	+	Missense_Mutation	SNP	T	T	C			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr8:113318340T>C	ENST00000297405.5	-	51	8211	c.7967A>G	c.(7966-7968)tAt>tGt	p.Y2656C	CSMD3_ENST00000352409.3_Missense_Mutation_p.Y2586C|CSMD3_ENST00000455883.2_Missense_Mutation_p.Y2552C|CSMD3_ENST00000343508.3_Missense_Mutation_p.Y2616C	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2656	Sushi 15. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATTACAAAAATAGGTAACTCG	0.403										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(7966-7968)tAt>tGt		CUB and Sushi multiple domains 3							176.0	158.0	164.0					8																	113318340		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113318340T>C	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.7967A>G	8.37:g.113318340T>C	ENSP00000297405:p.Tyr2656Cys	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000343508.3_Missense_Mutation_p.Y2616C|CSMD3_ENST00000352409.3_Missense_Mutation_p.Y2586C|CSMD3_ENST00000455883.2_Missense_Mutation_p.Y2552C	p.Y2656C	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			51	8211	-			2656			Sushi 15.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.7967A>G	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	T	19.29	3.799244	0.70567	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.71934	-0.61;-0.61;-0.61;-0.61;-0.61	5.53	5.53	0.82687	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000006	D	0.89487	0.6729	H	0.96889	3.9	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.92990	0.6414	10	0.87932	D	0	.	15.6452	0.77042	0.0:0.0:0.0:1.0	.	2552;2656;2616	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	C	2616;2656;1926;2552;2586	ENSP00000345799:Y2616C;ENSP00000297405:Y2656C;ENSP00000341558:Y1926C;ENSP00000412263:Y2552C;ENSP00000343124:Y2586C	ENSP00000297405:Y2656C	Y	-	2	0	CSMD3	113387516	1.000000	0.71417	1.000000	0.80357	0.590000	0.36582	8.013000	0.88655	2.094000	0.63399	0.455000	0.32223	TAT		0.403	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		19	35	0	0	0	1	0	19	35				
MUC16	94025	broad.mit.edu	37	19	9058814	9058814	+	Missense_Mutation	SNP	T	T	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr19:9058814T>A	ENST00000397910.4	-	3	28835	c.28632A>T	c.(28630-28632)aaA>aaT	p.K9544N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9546	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAGATATCACTTTTGTTGGCT	0.458																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(28630-28632)aaA>aaT		mucin 16, cell surface associated							104.0	99.0	101.0					19																	9058814		1916	4133	6049	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9058814T>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.28632A>T	19.37:g.9058814T>A	ENSP00000381008:p.Lys9544Asn						p.K9544N	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	28835	-			9546			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.28632A>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	t	5.395	0.258018	0.10239	.	.	ENSG00000181143	ENST00000397910	T	0.34275	1.37	2.27	-0.00676	0.14011	.	.	.	.	.	T	0.24275	0.0588	N	0.24115	0.695	.	.	.	P	0.35821	0.523	B	0.42030	0.373	T	0.31613	-0.9937	8	0.87932	D	0	.	1.8302	0.03129	0.2761:0.1711:0.0:0.5528	.	9544	B5ME49	.	N	9544	ENSP00000381008:K9544N	ENSP00000381008:K9544N	K	-	3	2	MUC16	8919814	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-1.392000	0.02523	-0.068000	0.12953	0.254000	0.18369	AAA		0.458	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		20	19	0	0	0	1	0	20	19				
ZNF518B	85460	broad.mit.edu	37	4	10445496	10445496	+	Silent	SNP	C	C	T	rs201909475		TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr4:10445496C>T	ENST00000326756.3	-	3	2895	c.2457G>A	c.(2455-2457)gcG>gcA	p.A819A		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	819					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						AGTCTGAGTCCGCCTGTCTCA	0.468																																						ENST00000326756.3																			0				breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						c.(2455-2457)gcG>gcA		zinc finger protein 518B							95.0	94.0	94.0					4																	10445496		2203	4300	6503	SO:0001819	synonymous_variant	85460				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:10445496C>T	AB051516	CCDS33960.1	4p16.1	2007-12-07				ENSG00000178163		"""Zinc fingers, C2H2-type"""	29365	protein-coding gene	gene with protein product						11214970	Standard	XM_005248193		Approved	KIAA1729	uc003gmn.3	Q9C0D4		ENST00000326756.3:c.2457G>A	4.37:g.10445496C>T							p.A819A	NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN			3	2895	-			819					Q96LN8	Silent	SNP	ENST00000326756.3	37	c.2457G>A	CCDS33960.1																																																																																				0.468	ZNF518B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359040.1	NM_053042		18	73	0	0	0	1	0	18	73				
ANO2	57101	broad.mit.edu	37	12	5941713	5941713	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr12:5941713C>G	ENST00000356134.5	-	6	752	c.681G>C	c.(679-681)caG>caC	p.Q227H	ANO2_ENST00000546188.1_Missense_Mutation_p.Q227H|ANO2_ENST00000327087.8_Missense_Mutation_p.Q226H	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel	231					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						AGCTCAGCTTCTGCAGAGCCG	0.522																																						ENST00000327087.8																			0				central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						c.(676-678)caG>caC		anoctamin 2							108.0	109.0	109.0					12																	5941713		2078	4220	6298	SO:0001583	missense	57101					chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity	g.chr12:5941713C>G	AJ272204	CCDS44807.1, CCDS44807.2	12p13.3	2014-04-09	2014-04-09	2008-08-28		ENSG00000047617		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	1183	protein-coding gene	gene with protein product	"""transmembrane protein 16B (eight membrane-spanning domains)"""	610109	"""chromosome 12 open reading frame 3"", ""transmembrane protein 16B"", ""anoctamin 2"""	C12orf3, TMEM16B		12739008, 15067359, 24692353	Standard	NM_001278596		Approved		uc001qnm.2	Q9NQ90		ENST00000356134.5:c.681G>C	12.37:g.5941713C>G	ENSP00000348453:p.Gln227His					ANO2_ENST00000546188.1_Missense_Mutation_p.Q227H|ANO2_ENST00000356134.5_Missense_Mutation_p.Q227H	p.Q226H			Q9NQ90	ANO2_HUMAN			5	749	-			231					C4N787|Q9H847	Missense_Mutation	SNP	ENST00000356134.5	37	c.678G>C		.	.	.	.	.	.	.	.	.	.	C	12.02	1.813499	0.32053	.	.	ENSG00000047617	ENST00000327087;ENST00000356134;ENST00000546188;ENST00000541277	T;T;T	0.66638	-0.22;-0.22;-0.22	5.72	3.78	0.43462	.	0.334694	0.35585	N	0.003105	T	0.59891	0.2227	L	0.54323	1.7	0.32413	N	0.550347	B	0.06786	0.001	B	0.08055	0.003	T	0.64651	-0.6357	10	0.37606	T	0.19	.	12.1059	0.53811	0.0:0.667:0.333:0.0	.	226	Q9NQ90-3	.	H	226;227;227;231	ENSP00000314048:Q226H;ENSP00000348453:Q227H;ENSP00000440981:Q227H	ENSP00000314048:Q226H	Q	-	3	2	ANO2	5811974	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	0.791000	0.26915	1.409000	0.46915	0.561000	0.74099	CAG		0.522	ANO2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000399019.4	NM_020373		14	36	0	0	0	1	0	14	36				
MAD1L1	8379	broad.mit.edu	37	7	1997278	1997278	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr7:1997278G>C	ENST00000406869.1	-	16	2139	c.1582C>G	c.(1582-1584)Cgg>Ggg	p.R528G	MAD1L1_ENST00000399654.2_Missense_Mutation_p.R528G|MAD1L1_ENST00000402746.1_Missense_Mutation_p.R436G|MAD1L1_ENST00000265854.7_Missense_Mutation_p.R528G			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)	528	Necessary for interaction with NEK2.				mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|regulation of metaphase plate congression (GO:0090235)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|spindle (GO:0005819)				central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		AGAGCTCGCCGCTCCAGCTGT	0.637																																						ENST00000406869.1																			0				central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36						c.(1582-1584)Cgg>Ggg		MAD1 mitotic arrest deficient-like 1 (yeast)							43.0	53.0	50.0					7																	1997278		2162	4256	6418	SO:0001583	missense	8379				cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding	g.chr7:1997278G>C	U33822	CCDS43539.1	7p22	2013-01-17	2001-11-28		ENSG00000002822	ENSG00000002822			6762	protein-coding gene	gene with protein product		602686	"""MAD1 (mitotic arrest deficient, yeast, homolog)-like 1"""			10049595, 9546394	Standard	XM_005249876		Approved	HsMAD1, TXBP181, MAD1, PIG9, TP53I9	uc003slg.1	Q9Y6D9	OTTHUMG00000151493	ENST00000406869.1:c.1582C>G	7.37:g.1997278G>C	ENSP00000385334:p.Arg528Gly					MAD1L1_ENST00000265854.7_Missense_Mutation_p.R528G|MAD1L1_ENST00000402746.1_Missense_Mutation_p.R436G|MAD1L1_ENST00000399654.2_Missense_Mutation_p.R528G	p.R528G			Q9Y6D9	MD1L1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)	16	2139	-		Ovarian(82;0.0272)	528			Necessary for interaction with NEK2.		B3KR41|Q13312|Q75MI0|Q86UM4|Q9UNH0	Missense_Mutation	SNP	ENST00000406869.1	37	c.1582C>G	CCDS43539.1	.	.	.	.	.	.	.	.	.	.	G	5.843	0.339785	0.11069	.	.	ENSG00000002822	ENST00000402746;ENST00000399654;ENST00000406869;ENST00000442131;ENST00000265854;ENST00000450235;ENST00000438959	T;T;T;T;T;T	0.22743	1.94;1.94;1.94;1.94;1.94;1.94	4.83	-0.502	0.12004	.	0.287226	0.35677	N	0.003043	T	0.29620	0.0739	M	0.68593	2.085	0.21386	N	0.999705	P;P;P	0.52170	0.951;0.951;0.855	P;P;B	0.47864	0.454;0.559;0.377	T	0.42189	-0.9466	10	0.66056	D	0.02	-27.0288	16.3075	0.82854	0.0:0.0:0.7419:0.2581	.	527;436;528	A4D218;B3KR41;Q9Y6D9	.;.;MD1L1_HUMAN	G	436;528;528;79;528;79;195	ENSP00000384155:R436G;ENSP00000382562:R528G;ENSP00000385334:R528G;ENSP00000265854:R528G;ENSP00000394886:R79G;ENSP00000414877:R195G	ENSP00000265854:R528G	R	-	1	2	MAD1L1	1963804	0.052000	0.20516	0.110000	0.21437	0.018000	0.09664	0.221000	0.17680	-0.024000	0.13941	-0.521000	0.04368	CGG		0.637	MAD1L1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322871.1	NM_003550		10	83	0	0	0	1	0	10	83				
POMT1	10585	broad.mit.edu	37	9	134379641	134379641	+	Silent	SNP	G	G	C	rs201262353		TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr9:134379641G>C	ENST00000372228.3	+	2	215	c.36G>C	c.(34-36)acG>acC	p.T12T	POMT1_ENST00000541219.1_Intron|POMT1_ENST00000354713.4_Silent_p.T12T|POMT1_ENST00000341012.7_Intron|POMT1_ENST00000404875.2_Intron|POMT1_ENST00000402686.3_Silent_p.T12T|POMT1_ENST00000423007.1_Silent_p.T12T|POMT1_ENST00000419118.2_Intron	NM_007171.3	NP_009102	Q9Y6A1	POMT1_HUMAN	protein-O-mannosyltransferase 1	12					carbohydrate metabolic process (GO:0005975)|extracellular matrix organization (GO:0030198)|mannosylation (GO:0097502)|multicellular organismal development (GO:0007275)|protein O-linked glycosylation (GO:0006493)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|sarcoplasmic reticulum (GO:0016529)	dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|mannosyltransferase activity (GO:0000030)|metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	31		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)		TAGTGGTGACGGCTGACATCA	0.577											OREG0019563	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000423007.1																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	31						c.(34-36)acG>acC		protein-O-mannosyltransferase 1							180.0	150.0	160.0					9																	134379641		2203	4300	6503	SO:0001819	synonymous_variant	10585				multicellular organismal development|protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding	g.chr9:134379641G>C	AF095136	CCDS6943.1, CCDS43894.1, CCDS43895.1, CCDS48045.1	9q34.1	2014-09-17			ENSG00000130714	ENSG00000130714	2.4.1.109	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	9202	protein-coding gene	gene with protein product	"""dolichyl-phosphate-mannose-protein mannosyltransferase"""	607423				10366449	Standard	NM_001077366		Approved	LGMD2K	uc004cav.3	Q9Y6A1	OTTHUMG00000020826	ENST00000372228.3:c.36G>C	9.37:g.134379641G>C			OREG0019563	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1610	POMT1_ENST00000419118.2_Intron|POMT1_ENST00000341012.7_Intron|POMT1_ENST00000402686.3_Silent_p.T12T|POMT1_ENST00000541219.1_Intron|POMT1_ENST00000354713.4_Silent_p.T12T|POMT1_ENST00000372228.3_Silent_p.T12T|POMT1_ENST00000404875.2_Intron	p.T12T	NM_001136113.1	NP_001129585.1	Q9Y6A1	POMT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)	2	478	+		Myeloproliferative disorder(178;0.204)	12					B3KQG0|B4DIF0|Q5JT01|Q5JT06|Q5JT08|Q8NC91|Q8TCA9|Q9NX32|Q9NX82|Q9UNT2	Silent	SNP	ENST00000372228.3	37	c.36G>C	CCDS6943.1																																																																																				0.577	POMT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054737.1	NM_007171		44	5	0	0	0	1	0	44	5				
PGLYRP4	57115	broad.mit.edu	37	1	153312868	153312868	+	Missense_Mutation	SNP	G	G	T	rs373816148		TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr1:153312868G>T	ENST00000359650.5	-	7	877	c.813C>A	c.(811-813)gaC>gaA	p.D271E	PGLYRP4_ENST00000368739.3_Missense_Mutation_p.D267E	NM_020393.2	NP_065126.2	Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	271					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			TATAACCAATGTCGCATGACT	0.502																																						ENST00000368739.3																			0				breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23						c.(799-801)gaC>gaA		peptidoglycan recognition protein 4							103.0	100.0	101.0					1																	153312868		2203	4300	6503	SO:0001583	missense	57115				defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	g.chr1:153312868G>T	AF242518	CCDS30871.1	1q21	2008-02-05			ENSG00000163218	ENSG00000163218			30015	protein-coding gene	gene with protein product	"""peptidoglycan recognition protein I beta precursor"""	608198				11461926	Standard	XR_241090		Approved	SBBI67, PGRPIB, PGLYRPIbeta, PGRP-Ibeta	uc001fbo.3	Q96LB8	OTTHUMG00000037057	ENST00000359650.5:c.813C>A	1.37:g.153312868G>T	ENSP00000352672:p.Asp271Glu					PGLYRP4_ENST00000359650.5_Missense_Mutation_p.D271E	p.D267E			Q96LB8	PGRP4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		7	1159	-	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		271					A8K838|Q3B822|Q3B823|Q5SY63|Q5SY64|Q9HD75	Missense_Mutation	SNP	ENST00000359650.5	37	c.801C>A	CCDS30871.1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.697915	0.48307	.	.	ENSG00000163218	ENST00000368739;ENST00000359650	T;T	0.27256	1.68;1.68	3.64	0.637	0.17735	Peptidoglycan recognition protein family domain, metazoa/bacteria (1);N-acetylmuramoyl-L-alanine amidase domain (4);	0.000000	0.56097	D	0.000022	T	0.45558	0.1348	H	0.95850	3.73	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.75484	0.976;0.986	T	0.45644	-0.9247	10	0.66056	D	0.02	-24.7997	5.7426	0.18102	0.3707:0.0:0.6293:0.0	.	267;271	Q96LB8-2;Q96LB8	.;PGRP4_HUMAN	E	267;271	ENSP00000357728:D267E;ENSP00000352672:D271E	ENSP00000352672:D271E	D	-	3	2	PGLYRP4	151579492	0.998000	0.40836	0.243000	0.24186	0.067000	0.16453	1.124000	0.31320	0.015000	0.14971	-0.140000	0.14226	GAC		0.502	PGLYRP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000089978.1	NM_020393		36	63	1	0	1.836e-18	1	2.30229e-18	36	63				
MYBPC3	4607	broad.mit.edu	37	11	47360082	47360082	+	Missense_Mutation	SNP	A	A	T			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr11:47360082A>T	ENST00000545968.1	-	23	2351	c.2297T>A	c.(2296-2298)gTc>gAc	p.V766D	MYBPC3_ENST00000256993.4_Missense_Mutation_p.V765D|MYBPC3_ENST00000399249.2_Missense_Mutation_p.V766D	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	766	Ig-like C2-type 5.				cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|heart morphogenesis (GO:0003007)|muscle filament sliding (GO:0030049)|myosin filament assembly (GO:0031034)|positive regulation of ATPase activity (GO:0032781)|regulation of heart rate (GO:0002027)|regulation of muscle filament sliding (GO:0032971)|regulation of striated muscle contraction (GO:0006942)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	A band (GO:0031672)|C zone (GO:0014705)|cytosol (GO:0005829)|sarcomere (GO:0030017)|striated muscle myosin thick filament (GO:0005863)	ATPase activator activity (GO:0001671)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|myosin binding (GO:0017022)|myosin heavy chain binding (GO:0032036)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		GATGACCTTGACTGTGAGGTT	0.617																																						ENST00000545968.1																			0				breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42						c.(2296-2298)gTc>gAc		myosin binding protein C, cardiac							83.0	86.0	85.0					11																	47360082		2096	4199	6295	SO:0001583	missense	4607				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding	g.chr11:47360082A>T	X84075	CCDS53621.1	11p11.2	2014-09-17	2001-11-28			ENSG00000134571		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7551	protein-coding gene	gene with protein product		600958	"""myosin-binding protein C, cardiac"""	CMH4		7744002, 8358441	Standard	NM_000256		Approved	MYBP-C, FHC	uc021qis.1	Q14896		ENST00000545968.1:c.2297T>A	11.37:g.47360082A>T	ENSP00000442795:p.Val766Asp					MYBPC3_ENST00000256993.4_Missense_Mutation_p.V765D|MYBPC3_ENST00000399249.2_Missense_Mutation_p.V766D	p.V766D	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN		Lung(87;0.176)	23	2351	-			765			Ig-like C2-type 5.		A5PL00|Q16410|Q6R2F7|Q9UE27|Q9UM53	Missense_Mutation	SNP	ENST00000545968.1	37	c.2297T>A	CCDS53621.1	.	.	.	.	.	.	.	.	.	.	A	25.3	4.626995	0.87560	.	.	ENSG00000134571	ENST00000545968;ENST00000399249;ENST00000256993	T;T;T	0.78126	-1.15;-1.15;-1.15	5.4	5.4	0.78164	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.90242	0.6949	M	0.91038	3.17	0.80722	D	1	D	0.71674	0.998	D	0.79784	0.993	D	0.92489	0.5999	9	0.87932	D	0	.	15.4578	0.75330	1.0:0.0:0.0:0.0	.	765	Q14896	MYPC3_HUMAN	D	766;766;765	ENSP00000442795:V766D;ENSP00000382193:V766D;ENSP00000256993:V765D	ENSP00000256993:V765D	V	-	2	0	MYBPC3	47316658	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	8.939000	0.92951	2.053000	0.61076	0.460000	0.39030	GTC		0.617	MYBPC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392271.3			9	64	0	0	0	1	0	9	64				
SF3B3	23450	broad.mit.edu	37	16	70575650	70575650	+	Silent	SNP	A	A	G			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr16:70575650A>G	ENST00000302516.5	+	9	1357	c.1146A>G	c.(1144-1146)ggA>ggG	p.G382G		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	382					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|protein complex assembly (GO:0006461)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	nucleic acid binding (GO:0003676)			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				TGGAAGAAGGAGACACATTCT	0.448																																						ENST00000302516.5																			0				breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53						c.(1144-1146)ggA>ggG		splicing factor 3b, subunit 3, 130kDa							226.0	219.0	221.0					16																	70575650		2198	4300	6498	SO:0001819	synonymous_variant	23450				protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding	g.chr16:70575650A>G	AJ001443	CCDS10894.1	16q22	2008-08-01	2002-08-29		ENSG00000189091	ENSG00000189091			10770	protein-coding gene	gene with protein product		605592	"""splicing factor 3b, subunit 3, 130kD"""			10490618	Standard	NM_012426		Approved	SAP130, SF3b130, RSE1, KIAA0017	uc002ezf.3	Q15393	OTTHUMG00000137582	ENST00000302516.5:c.1146A>G	16.37:g.70575650A>G							p.G382G	NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN			9	1357	+		Ovarian(137;0.0694)	382					Q6NTI8|Q96GC0|Q9BPY2|Q9UFX7|Q9UJ29	Silent	SNP	ENST00000302516.5	37	c.1146A>G	CCDS10894.1																																																																																				0.448	SF3B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268972.1	NM_012426		4	109	0	0	0	1	0	4	109				
MGEA5	10724	broad.mit.edu	37	10	103547200	103547200	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr10:103547200C>G	ENST00000361464.3	-	15	2930	c.2535G>C	c.(2533-2535)atG>atC	p.M845I	MGEA5_ENST00000482611.1_5'UTR|MGEA5_ENST00000439817.1_Missense_Mutation_p.M792I|MGEA5_ENST00000357797.5_Missense_Mutation_p.M778I	NM_012215.3	NP_036347.1	O60502	OGA_HUMAN	meningioma expressed antigen 5 (hyaluronidase)	845					aging (GO:0007568)|dATP metabolic process (GO:0046060)|glycoprotein catabolic process (GO:0006516)|N-acetylglucosamine metabolic process (GO:0006044)|necrotic cell death (GO:0070265)|negative regulation of cardiac muscle adaptation (GO:0010616)|negative regulation of protein glycosylation (GO:0060051)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cell killing (GO:0031343)|positive regulation of DNA metabolic process (GO:0051054)|positive regulation of glucose import (GO:0046326)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of protein complex disassembly (GO:0043243)|positive regulation of proteolysis (GO:0045862)|protein targeting to membrane (GO:0006612)|response to steroid hormone (GO:0048545)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|hyalurononglucosaminidase activity (GO:0004415)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		TGTGAATGTCCATCTTTATCA	0.393																																						ENST00000361464.3																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23						c.(2533-2535)atG>atC		meningioma expressed antigen 5 (hyaluronidase)							151.0	151.0	151.0					10																	103547200		2203	4300	6503	SO:0001583	missense	10724				glycoprotein catabolic process	cytoplasm|nucleus	histone acetyltransferase activity|hyalurononglucosaminidase activity	g.chr10:103547200C>G	AF036144	CCDS7520.1, CCDS44471.1	10q24.1-q24.3	2008-08-01			ENSG00000198408	ENSG00000198408			7056	protein-coding gene	gene with protein product	"""nuclear cytoplasmic O-GlcNAcase and acetyltransferase"""	604039				9811929, 16356930	Standard	NM_012215		Approved	MEA5, NCOAT, OGA	uc001ktv.2	O60502	OTTHUMG00000018939	ENST00000361464.3:c.2535G>C	10.37:g.103547200C>G	ENSP00000354850:p.Met845Ile					MGEA5_ENST00000357797.5_Missense_Mutation_p.M778I|MGEA5_ENST00000482611.1_5'UTR|MGEA5_ENST00000439817.1_Missense_Mutation_p.M792I	p.M845I	NM_012215.3	NP_036347.1	O60502	NCOAT_HUMAN		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)	15	2930	-		Colorectal(252;0.207)	845			Histone acetyltransferase activity (By similarity).		B7WPB9|D3DR79|E9PGF9|O75166|Q86WV0|Q8IV98|Q9BVA5|Q9HAR0	Missense_Mutation	SNP	ENST00000361464.3	37	c.2535G>C	CCDS7520.1	.	.	.	.	.	.	.	.	.	.	C	8.982	0.975592	0.18736	.	.	ENSG00000198408	ENST00000439817;ENST00000361464;ENST00000357797	T;T;T	0.39787	1.06;1.06;1.06	5.74	5.74	0.90152	Acyl-CoA N-acyltransferase (2);	0.136912	0.64402	D	0.000001	T	0.24890	0.0604	N	0.19112	0.55	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.11518	-1.0584	10	0.10377	T	0.69	-10.4793	10.2928	0.43605	0.1825:0.6968:0.1207:0.0	.	792;778;845	E9PGF9;O60502-2;O60502	.;.;NCOAT_HUMAN	I	792;845;778	ENSP00000409973:M792I;ENSP00000354850:M845I;ENSP00000350445:M778I	ENSP00000350445:M778I	M	-	3	0	MGEA5	103537190	0.999000	0.42202	1.000000	0.80357	0.995000	0.86356	0.695000	0.25527	2.890000	0.99128	0.650000	0.86243	ATG		0.393	MGEA5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049987.1	NM_012215		45	4	0	0	0	1	0	45	4				
HERC2P2	400322	broad.mit.edu	37	15	23312005	23312005	+	RNA	SNP	C	C	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr15:23312005C>A	ENST00000560464.1	-	0	3266									hect domain and RLD 2 pseudogene 2																		CCGCTCTTCACCAGGGTACAG	0.637																																						ENST00000560464.1																			0																																																			0							g.chr15:23312005C>A	AF041080		15q11.2	2014-03-18			ENSG00000140181				4870	pseudogene	pseudogene						9730612	Standard	NR_002824		Approved	D15F37S3	uc001yvq.2		OTTHUMG00000171926		15.37:g.23312005C>A														0	3266	-									RNA	SNP	ENST00000560464.1	37																																																																																						0.637	HERC2P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415936.1			3	5	1	0	0.00909568	1	0.00927173	3	5				
RYR3	6263	broad.mit.edu	37	15	34018592	34018592	+	Silent	SNP	C	C	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr15:34018592C>A	ENST00000389232.4	+	46	6988	c.6918C>A	c.(6916-6918)atC>atA	p.I2306I	RYR3_ENST00000415757.3_Silent_p.I2306I	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2306	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TCCAGCTCATCCAGACAGGAA	0.547																																						ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(6916-6918)atC>atA		ryanodine receptor 3							43.0	46.0	45.0					15																	34018592		2014	4188	6202	SO:0001819	synonymous_variant	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34018592C>A		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.6918C>A	15.37:g.34018592C>A						RYR3_ENST00000415757.3_Silent_p.I2306I	p.I2306I	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	46	6988	+		all_lung(180;7.18e-09)	2306			4 X approximate repeats.		O15175|Q15412	Silent	SNP	ENST00000389232.4	37	c.6918C>A	CCDS45210.1																																																																																				0.547	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			6	6	1	0	8.12818e-05	1	8.79625e-05	6	6				
BMS1P20	96610	broad.mit.edu	37	22	22664141	22664141	+	RNA	SNP	G	G	A	rs369590722		TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr22:22664141G>A	ENST00000426066.1	+	0	664					NR_027293.1				BMS1 pseudogene 20																		AAATTTGAAGGTGCTGTGATT	0.448																																						ENST00000426066.1																			0																																																			0							g.chr22:22664141G>A			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664141G>A								NR_027293.1						0	664	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.448	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			5	87	0	0	0	1	0	5	87				
PLPPR1	54886	broad.mit.edu	37	9	104086318	104086318	+	Silent	SNP	G	G	A	rs371737348		TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr9:104086318G>A	ENST00000374874.3	+	8	1396	c.957G>A	c.(955-957)gcG>gcA	p.A319A	SNORA31_ENST00000517232.1_RNA|LPPR1_ENST00000395056.2_Silent_p.A319A	NM_207299.1	NP_997182.1	Q8TBJ4	LPPR1_HUMAN		319					nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)										ATCACTCTGCGTCCATGACCG	0.413																																						ENST00000374874.3																			0											c.(955-957)gcG>gcA				G	,	1,4405	2.1+/-5.4	0,1,2202	163.0	126.0	138.0		957,957	3.3	1.0	9		138	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	LPPR1	NM_017753.2,NM_207299.1	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	319/326,319/326	104086318	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0					integral to membrane	catalytic activity	g.chr9:104086318G>A																												ENST00000374874.3:c.957G>A	9.37:g.104086318G>A						LPPR1_ENST00000395056.2_Silent_p.A319A	p.A319A	NM_207299.1	NP_997182.1	Q8TBJ4	LPPR1_HUMAN			8	1396	+			319					Q5VX23|Q9NXE2	Silent	SNP	ENST00000374874.3	37	c.957G>A	CCDS6751.1																																																																																				0.413	LPPR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053425.1			6	12	0	0	0	1	0	6	12				
MBP	4155	broad.mit.edu	37	18	74700335	74700335	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr18:74700335C>T	ENST00000397869.3	-	4	513	c.467G>A	c.(466-468)cGa>cAa	p.R156Q	MBP_ENST00000527041.1_Intron|MBP_ENST00000382582.3_Intron|MBP_ENST00000580402.1_Intron|MBP_ENST00000397866.4_Intron|MBP_ENST00000526111.1_Intron|MBP_ENST00000579129.1_Intron|MBP_ENST00000397875.3_Intron|MBP_ENST00000355994.2_Intron|MBP_ENST00000354542.4_Intron|MBP_ENST00000578193.1_Intron|MBP_ENST00000397865.5_Intron|MBP_ENST00000528160.1_Intron|MBP_ENST00000359645.3_Intron			P13727	PRG2_HUMAN	myelin basic protein	0	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				defense response to bacterium (GO:0042742)|defense response to nematode (GO:0002215)|immune response (GO:0006955)|negative regulation of interleukin-10 production (GO:0032693)|positive regulation of interleukin-4 production (GO:0032753)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|heparin binding (GO:0008201)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.79e-06)|BRCA - Breast invasive adenocarcinoma(31;0.113)|READ - Rectum adenocarcinoma(1;0.188)	Sargramostim(DB00020)	AGAGAGGTCTCGAGAGGAGAG	0.567																																					NSCLC(17;72 1131 19392)	ENST00000397869.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(466-468)cGa>cAa		myelin basic protein																																				SO:0001583	missense	4155				central nervous system development|immune response|synaptic transmission	plasma membrane	structural constituent of myelin sheath	g.chr18:74700335C>T		CCDS12011.1, CCDS32847.1, CCDS42448.1, CCDS42449.1, CCDS42450.1	18q23	2008-08-01			ENSG00000197971	ENSG00000197971			6925	protein-coding gene	gene with protein product		159430				2425357	Standard	XM_005266699		Approved		uc010xfd.2	P02686	OTTHUMG00000132874	ENST00000397869.3:c.467G>A	18.37:g.74700335C>T	ENSP00000380967:p.Arg156Gln					MBP_ENST00000527041.1_Intron|MBP_ENST00000359645.3_Intron|MBP_ENST00000397866.4_Intron|MBP_ENST00000526111.1_Intron|MBP_ENST00000580402.1_Intron|MBP_ENST00000354542.4_Intron|MBP_ENST00000528160.1_Intron|MBP_ENST00000382582.3_Intron|MBP_ENST00000579129.1_Intron|MBP_ENST00000397875.3_Intron|MBP_ENST00000578193.1_Intron|MBP_ENST00000355994.2_Intron|MBP_ENST00000397865.5_Intron	p.R156Q			P02686	MBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;1.79e-06)|BRCA - Breast invasive adenocarcinoma(31;0.113)|READ - Rectum adenocarcinoma(1;0.188)	4	513	-		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)	218					A6XMW0|B2R5I1|P81448|Q14227|Q6ICT2	Missense_Mutation	SNP	ENST00000397869.3	37	c.467G>A		.	.	.	.	.	.	.	.	.	.	C	10.71	1.427019	0.25726	.	.	ENSG00000197971	ENST00000397869	.	.	.	4.48	-3.66	0.04489	.	.	.	.	.	T	0.24736	0.0600	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.25187	-1.0139	7	0.59425	D	0.04	.	3.6303	0.08128	0.0762:0.2129:0.2681:0.4428	.	156	B7Z3Y6	.	Q	156	.	ENSP00000380967:R156Q	R	-	2	0	MBP	72829323	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-0.082000	0.11304	-0.594000	0.05836	-0.600000	0.04104	CGA		0.567	MBP-024	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000267964.1	NM_001025081		6	10	0	0	0	1	0	6	10				
PRDM5	11107	broad.mit.edu	37	4	121739545	121739545	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr4:121739545C>A	ENST00000264808.3	-	5	853	c.613G>T	c.(613-615)Ggg>Tgg	p.G205W	PRDM5_ENST00000428209.2_Missense_Mutation_p.G205W|PRDM5_ENST00000515109.1_Missense_Mutation_p.G205W	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	205					histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|mitotic cell cycle (GO:0000278)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						AATTTCTTCCCACAGTTCTTG	0.373																																						ENST00000264808.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(613-615)Ggg>Tgg		PR domain containing 5							93.0	88.0	90.0					4																	121739545		2203	4300	6503	SO:0001583	missense	11107				histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr4:121739545C>A	AF272897	CCDS3716.1, CCDS75187.1, CCDS75188.1	4q25-q26	2013-01-08			ENSG00000138738	ENSG00000138738		"""Zinc fingers, C2H2-type"""	9349	protein-coding gene	gene with protein product		614161					Standard	XM_005262706		Approved	PFM2	uc003idn.3	Q9NQX1	OTTHUMG00000132970	ENST00000264808.3:c.613G>T	4.37:g.121739545C>A	ENSP00000264808:p.Gly205Trp					PRDM5_ENST00000515109.1_Missense_Mutation_p.G205W|PRDM5_ENST00000428209.2_Missense_Mutation_p.G205W	p.G205W	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN			5	853	-			205					Q0VAI9|Q0VAJ0|Q6NXQ7	Missense_Mutation	SNP	ENST00000264808.3	37	c.613G>T	CCDS3716.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.581702	0.86748	.	.	ENSG00000138738	ENST00000264808;ENST00000515109;ENST00000428209	T;T;T	0.60040	0.22;0.22;0.22	5.32	5.32	0.75619	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.79293	0.4421	M	0.82193	2.58	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.82394	-0.0479	10	0.87932	D	0	-30.627	19.0126	0.92879	0.0:1.0:0.0:0.0	.	205;205;205	Q0VAI9;Q9NQX1-2;Q9NQX1	.;.;PRDM5_HUMAN	W	205	ENSP00000264808:G205W;ENSP00000422309:G205W;ENSP00000404832:G205W	ENSP00000264808:G205W	G	-	1	0	PRDM5	121958995	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	4.516000	0.60496	2.498000	0.84270	0.555000	0.69702	GGG		0.373	PRDM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256528.2			9	17	1	0	0.000442599	1	0.000463117	9	17				
RASIP1	54922	broad.mit.edu	37	19	49228098	49228098	+	Silent	SNP	G	G	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr19:49228098G>A	ENST00000222145.4	-	9	2451	c.2247C>T	c.(2245-2247)ggC>ggT	p.G749G		NM_017805.2	NP_060275.2	Q5U651	RAIN_HUMAN	Ras interacting protein 1	749	Dilute. {ECO:0000255|PROSITE- ProRule:PRU00503}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|negative regulation of autophagy (GO:0010507)|regulation of Rho GTPase activity (GO:0032319)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	Golgi apparatus (GO:0005794)				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		CCTGGAACACGCCCAGGGTAG	0.612																																						ENST00000222145.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21						c.(2245-2247)ggC>ggT		Ras interacting protein 1							82.0	83.0	83.0					19																	49228098		2203	4300	6503	SO:0001819	synonymous_variant	54922				signal transduction	Golgi stack|perinuclear region of cytoplasm		g.chr19:49228098G>A	BC028614	CCDS12731.1	19q13.33	2008-02-05				ENSG00000105538			24716	protein-coding gene	gene with protein product		609623				15031288	Standard	NM_017805		Approved	FLJ20401, RAIN	uc002pki.3	Q5U651		ENST00000222145.4:c.2247C>T	19.37:g.49228098G>A							p.G749G	NM_017805.2	NP_060275.2	Q5U651	RAIN_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)	9	2451	-		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	749			Dilute.		Q6U676	Silent	SNP	ENST00000222145.4	37	c.2247C>T	CCDS12731.1																																																																																				0.612	RASIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466185.1	NM_017805		38	87	0	0	0	1	0	38	87				
KANSL3	55683	broad.mit.edu	37	2	97274353	97274353	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr2:97274353C>T	ENST00000431828.1	-	14	1709	c.1633G>A	c.(1633-1635)Gtg>Atg	p.V545M	KANSL3_ENST00000599854.1_Missense_Mutation_p.V458M|KANSL3_ENST00000441706.2_Missense_Mutation_p.V458M|KANSL3_ENST00000487070.1_5'UTR|KANSL3_ENST00000440133.1_Missense_Mutation_p.V339M			Q9P2N6	KANL3_HUMAN	KAT8 regulatory NSL complex subunit 3	545					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											ACTGTGGTCACTTTGGTCTTG	0.522																																						ENST00000599854.1																			0											c.(1372-1374)Gtg>Atg		KAT8 regulatory NSL complex subunit 3							129.0	124.0	126.0					2																	97274353		2036	4208	6244	SO:0001583	missense	55683							g.chr2:97274353C>T	BC063792	CCDS46361.1	2q11.2	2011-10-31	2011-10-31	2011-10-31	ENSG00000114982	ENSG00000114982			25473	protein-coding gene	gene with protein product			"""KIAA1310"""	KIAA1310			Standard	NM_001115016		Approved	FLJ10081, Rcd1, NSL3	uc002swn.5	Q9P2N6	OTTHUMG00000155249	ENST00000431828.1:c.1633G>A	2.37:g.97274353C>T	ENSP00000396749:p.Val545Met					KANSL3_ENST00000440133.1_Missense_Mutation_p.V339M|KANSL3_ENST00000431828.1_Missense_Mutation_p.V545M|KANSL3_ENST00000441706.2_Missense_Mutation_p.V458M|KANSL3_ENST00000487070.1_5'UTR	p.V458M	NM_001115016.2	NP_001108488.1	Q9P2N6	K1310_HUMAN			14	1839	-			545					A1L184|D3DXH3|D3DXH4|Q05BU4|Q6P3X2|Q6PJH6|Q86T19|Q96L64|Q9H0C9|Q9H8C9|Q9HAP8|Q9NWE5	Missense_Mutation	SNP	ENST00000431828.1	37	c.1372G>A	CCDS46361.1	.	.	.	.	.	.	.	.	.	.	C	12.77	2.037708	0.35989	.	.	ENSG00000114982	ENST00000354204;ENST00000447759;ENST00000431828;ENST00000441706;ENST00000440133;ENST00000444759	T;T	0.45668	0.9;0.89	5.24	4.29	0.51040	.	0.334551	0.31760	N	0.007109	T	0.19287	0.0463	N	0.08118	0	0.80722	D	1	B;B;B;B	0.12630	0.003;0.001;0.006;0.001	B;B;B;B	0.12837	0.006;0.004;0.008;0.002	T	0.10776	-1.0615	10	0.28530	T	0.3	.	5.2466	0.15500	0.2054:0.6904:0.0:0.1041	.	339;545;458;433	B4E1W4;Q9P2N6-3;Q9P2N6-5;Q9P2N6-6	.;.;.;.	M	458;433;545;458;339;339	ENSP00000396749:V545M;ENSP00000406207:V339M	ENSP00000346144:V458M	V	-	1	0	KIAA1310	96638080	1.000000	0.71417	1.000000	0.80357	0.720000	0.41350	0.895000	0.28363	2.723000	0.93209	0.655000	0.94253	GTG		0.522	KANSL3-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339040.2	NM_017991		14	61	0	0	0	1	0	14	61				
FAM186B	84070	broad.mit.edu	37	12	49999203	49999203	+	Silent	SNP	G	G	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr12:49999203G>A	ENST00000257894.2	-	1	219	c.58C>T	c.(58-60)Ctg>Ttg	p.L20L	FAM186B_ENST00000551047.1_Silent_p.L20L|FAM186B_ENST00000544141.1_5'UTR	NM_032130.2	NP_115506.1	Q8IYM0	F186B_HUMAN	family with sequence similarity 186, member B	20						protein complex (GO:0043234)				breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TCAATCCTCAGGATGATGGCT	0.517																																						ENST00000257894.2																			0				breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(58-60)Ctg>Ttg		family with sequence similarity 186, member B							101.0	81.0	88.0					12																	49999203		2203	4300	6503	SO:0001819	synonymous_variant	84070					protein complex		g.chr12:49999203G>A	AL136748	CCDS8788.1	12q13.12	2008-09-17	2008-09-17	2008-09-17	ENSG00000135436	ENSG00000135436			25296	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 25"""	C12orf25		11230166	Standard	NM_032130		Approved	DKFZP434J0113	uc001ruo.3	Q8IYM0	OTTHUMG00000167427	ENST00000257894.2:c.58C>T	12.37:g.49999203G>A						FAM186B_ENST00000551047.1_Silent_p.L20L|FAM186B_ENST00000544141.1_5'UTR	p.L20L	NM_032130.2	NP_115506.1	Q8IYM0	F186B_HUMAN			1	219	-			20					B4DZ15|Q8TCP7|Q9H0L3	Silent	SNP	ENST00000257894.2	37	c.58C>T	CCDS8788.1																																																																																				0.517	FAM186B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394583.2	NM_032130		10	22	0	0	0	1	0	10	22				
HCRTR2	3062	broad.mit.edu	37	6	55142223	55142223	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr6:55142223C>A	ENST00000370862.3	+	5	1144	c.808C>A	c.(808-810)Cag>Aag	p.Q270K		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	270					circadian sleep/wake cycle process (GO:0022410)|feeding behavior (GO:0007631)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|orexin receptor activity (GO:0016499)			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			GAAGCCCCTGCAGCCTGTTTC	0.507																																						ENST00000370862.3																			0				breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						c.(808-810)Cag>Aag		hypocretin (orexin) receptor 2							59.0	64.0	63.0					6																	55142223		2203	4300	6503	SO:0001583	missense	3062				feeding behavior	integral to plasma membrane	neuropeptide receptor activity	g.chr6:55142223C>A	AF041245	CCDS4956.1	6p12.1	2012-09-20			ENSG00000137252	ENSG00000137252		"""GPCR / Class A : Hypocretin (orexin) receptors"""	4849	protein-coding gene	gene with protein product		602393				9491897	Standard	NM_001526		Approved	OX2R	uc003pcl.3	O43614	OTTHUMG00000016150	ENST00000370862.3:c.808C>A	6.37:g.55142223C>A	ENSP00000359899:p.Gln270Lys						p.Q270K	NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		5	1144	+	Lung NSC(77;0.107)|Renal(3;0.122)		270					Q5VTM0	Missense_Mutation	SNP	ENST00000370862.3	37	c.808C>A	CCDS4956.1	.	.	.	.	.	.	.	.	.	.	C	16.81	3.226989	0.58668	.	.	ENSG00000137252	ENST00000370862	T	0.60920	0.15	6.06	5.03	0.67393	GPCR, rhodopsin-like superfamily (1);	0.279951	0.41396	D	0.000898	T	0.35856	0.0946	L	0.53729	1.69	0.58432	D	0.999998	B	0.17667	0.023	B	0.20384	0.029	T	0.22695	-1.0209	10	0.08599	T	0.76	.	16.2639	0.82565	0.0:0.9269:0.0:0.0731	.	270	O43614	OX2R_HUMAN	K	270	ENSP00000359899:Q270K	ENSP00000359899:Q270K	Q	+	1	0	HCRTR2	55250182	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	4.476000	0.60216	2.880000	0.98712	0.650000	0.86243	CAG		0.507	HCRTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043392.1			14	47	1	0	0.000151284	1	0.000161506	14	47				
AFTPH	54812	broad.mit.edu	37	2	64780209	64780209	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr2:64780209G>T	ENST00000422803.1	+	2	1915	c.1601G>T	c.(1600-1602)gGt>gTt	p.G534V	AFTPH_ENST00000487769.1_3'UTR|AFTPH_ENST00000409183.1_Missense_Mutation_p.G165V|AFTPH_ENST00000238855.7_Missense_Mutation_p.G534V|AFTPH_ENST00000238856.4_Missense_Mutation_p.G534V|AFTPH_ENST00000409933.1_Missense_Mutation_p.G534V			Q6ULP2	AFTIN_HUMAN	aftiphilin	534					protein transport (GO:0015031)	AP-1 adaptor complex (GO:0030121)|cytosol (GO:0005829)	clathrin binding (GO:0030276)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						GGGCAAGAAGGTGAGATTGGA	0.388																																						ENST00000422803.1																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						c.(1600-1602)gGt>gTt		aftiphilin							118.0	118.0	118.0					2																	64780209		2203	4300	6503	SO:0001583	missense	54812				protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding	g.chr2:64780209G>T	AB073356	CCDS1878.1, CCDS46303.1	2p14	2008-02-05			ENSG00000119844	ENSG00000119844			25951	protein-coding gene	gene with protein product						14665628, 15758025, 15811338	Standard	NM_017657		Approved	MGC33965, FLJ20080, FLJ23793, Nbla10388	uc002scz.3	Q6ULP2	OTTHUMG00000129539	ENST00000422803.1:c.1601G>T	2.37:g.64780209G>T	ENSP00000397726:p.Gly534Val					AFTPH_ENST00000238856.4_Missense_Mutation_p.G534V|AFTPH_ENST00000409933.1_Missense_Mutation_p.G534V|AFTPH_ENST00000409183.1_Missense_Mutation_p.G165V|AFTPH_ENST00000487769.1_3'UTR|AFTPH_ENST00000238855.7_Missense_Mutation_p.G534V	p.G534V			Q6ULP2	AFTIN_HUMAN			2	1915	+			534					D6W5E9|Q6ZM66|Q86VW3|Q8TCF3|Q9H7E3|Q9HAB9|Q9NXS4	Missense_Mutation	SNP	ENST00000422803.1	37	c.1601G>T		.	.	.	.	.	.	.	.	.	.	G	14.32	2.499121	0.44455	.	.	ENSG00000119844	ENST00000238856;ENST00000422803;ENST00000238855;ENST00000409933;ENST00000409183	T;T;T;T;T	0.47869	1.82;1.83;1.83;1.83;0.83	6.06	5.16	0.70880	.	0.469439	0.22670	N	0.057067	T	0.58481	0.2125	L	0.56769	1.78	0.58432	D	0.999996	D;D;P;P	0.55172	0.97;0.97;0.92;0.92	P;P;P;P	0.54664	0.758;0.758;0.564;0.564	T	0.52208	-0.8606	10	0.33141	T	0.24	-5.4707	17.0725	0.86578	0.0:0.2344:0.7656:0.0	.	534;534;534;534	Q6ULP2;Q6ULP2-2;Q6ULP2-5;Q6ULP2-4	AFTIN_HUMAN;.;.;.	V	534;534;534;534;165	ENSP00000238856:G534V;ENSP00000397726:G534V;ENSP00000238855:G534V;ENSP00000387071:G534V;ENSP00000386913:G165V	ENSP00000238855:G534V	G	+	2	0	AFTPH	64633713	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.216000	0.51176	2.880000	0.98712	0.650000	0.86243	GGT		0.388	AFTPH-202	KNOWN	basic	protein_coding	protein_coding		NM_017657		13	45	1	0	7.03913e-09	1	8.17781e-09	13	45				
NR2F2	7026	broad.mit.edu	37	15	96880650	96880650	+	Silent	SNP	C	C	T	rs368117658		TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr15:96880650C>T	ENST00000394166.3	+	3	2433	c.1044C>T	c.(1042-1044)taC>taT	p.Y348Y	NR2F2_ENST00000421109.2_Silent_p.Y215Y|NR2F2_ENST00000453270.2_Silent_p.Y195Y|NR2F2_ENST00000394171.2_Silent_p.Y195Y	NM_021005.3	NP_066285.1	P24468	COT2_HUMAN	nuclear receptor subfamily 2, group F, member 2	348	Important for dimerization.|Interaction with ZFPM2. {ECO:0000250}.|Ligand-binding. {ECO:0000250}.				anterior/posterior pattern specification (GO:0009952)|blood vessel morphogenesis (GO:0048514)|fertilization (GO:0009566)|forebrain development (GO:0030900)|intracellular receptor signaling pathway (GO:0030522)|limb development (GO:0060173)|lipid metabolic process (GO:0006629)|maternal placenta development (GO:0001893)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron migration (GO:0001764)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|radial pattern formation (GO:0009956)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to estradiol (GO:0032355)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		OV - Ovarian serous cystadenocarcinoma(32;0.0856)			TGGAAGAATACGTTAGGAGCC	0.493																																						ENST00000394166.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17						c.(1042-1044)taC>taT		nuclear receptor subfamily 2, group F, member 2		C	,,,	0,4394		0,0,2197	112.0	103.0	106.0		645,585,585,1044	1.9	1.0	15		106	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NR2F2	NM_001145155.1,NM_001145156.1,NM_001145157.1,NM_021005.3	,,,	0,1,6494	TT,TC,CC		0.0116,0.0,0.0077	,,,	215/282,195/262,195/262,348/415	96880650	1,12989	2197	4298	6495	SO:0001819	synonymous_variant	7026				lipid metabolic process|negative regulation of cyclin-dependent protein kinase activity|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment	nucleus	ligand-regulated transcription factor activity|protein homodimerization activity|retinoic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity|zinc ion binding	g.chr15:96880650C>T	M64497	CCDS10375.1, CCDS45358.1, CCDS45359.1	15q26	2013-01-16			ENSG00000185551	ENSG00000185551		"""Nuclear hormone receptors"""	7976	protein-coding gene	gene with protein product		107773		ARP1, TFCOUP2		8530078, 11544252	Standard	NM_021005		Approved	COUP-TFII, COUPTFB, SVP40, NF-E3	uc010uri.2	P24468	OTTHUMG00000149848	ENST00000394166.3:c.1044C>T	15.37:g.96880650C>T						NR2F2_ENST00000421109.2_Silent_p.Y215Y|NR2F2_ENST00000394171.2_Silent_p.Y195Y|NR2F2_ENST00000453270.2_Silent_p.Y195Y	p.Y348Y	NM_021005.3	NP_066285.1	P24468	COT2_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.0856)		3	2433	+	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		348			Important for dimerization.|Interaction with ZFPM2 (By similarity).|Ligand-binding (By similarity).		B4DQJ2|B6ZGU1|Q03754|Q3KQR7	Silent	SNP	ENST00000394166.3	37	c.1044C>T	CCDS10375.1																																																																																				0.493	NR2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313534.1			100	42	0	0	0	1	0	100	42				
PPP6R3	55291	broad.mit.edu	37	11	68305235	68305235	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr11:68305235C>G	ENST00000393800.2	+	3	357	c.103C>G	c.(103-105)Cag>Gag	p.Q35E	PPP6R3_ENST00000529710.1_Missense_Mutation_p.Q35E|PPP6R3_ENST00000524845.1_Missense_Mutation_p.Q35E|PPP6R3_ENST00000524904.1_Missense_Mutation_p.Q35E|PPP6R3_ENST00000393799.2_Missense_Mutation_p.Q35E|PPP6R3_ENST00000393801.3_Missense_Mutation_p.Q35E|PPP6R3_ENST00000265636.5_Missense_Mutation_p.Q35E|PPP6R3_ENST00000527403.2_Missense_Mutation_p.Q35E|PPP6R3_ENST00000534534.1_Intron|PPP6R3_ENST00000265637.4_Missense_Mutation_p.Q35E	NM_001164161.1|NM_001164162.1|NM_001164163.1	NP_001157633.1|NP_001157634.1|NP_001157635.1	Q5H9R7	PP6R3_HUMAN	protein phosphatase 6, regulatory subunit 3	35					regulation of phosphoprotein phosphatase activity (GO:0043666)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)			breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						AGATGTTTTACAGGAATGTAA	0.363																																						ENST00000393799.2																			0				breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(103-105)Cag>Gag		protein phosphatase 6, regulatory subunit 3							98.0	92.0	94.0					11																	68305235		2200	4294	6494	SO:0001583	missense	55291				regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding	g.chr11:68305235C>G	AF264779	CCDS8182.1, CCDS53671.1, CCDS53672.1, CCDS53673.1, CCDS53674.1, CCDS53675.1	11q13	2012-04-17	2010-06-28	2010-06-28	ENSG00000110075	ENSG00000110075		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"""	1173	protein-coding gene	gene with protein product	"""sporulation-induced transcript 4-associated protein"""	610879	"""chromosome 11 open reading frame 23"", ""SAPS domain family, member 3"""	C11orf23, SAPS3		11401438, 16769727	Standard	NM_018312		Approved	SAPLa, DKFZp781E2374, DKFZp781O2362, DKFZp781E17107, SAP190, SAPL, PP6R3, FLJ11058, FLJ43065, KIAA1558, MGC125711, MGC125712	uc001onv.3	Q5H9R7		ENST00000393800.2:c.103C>G	11.37:g.68305235C>G	ENSP00000377389:p.Gln35Glu					PPP6R3_ENST00000524904.1_Missense_Mutation_p.Q35E|PPP6R3_ENST00000524845.1_Missense_Mutation_p.Q35E|PPP6R3_ENST00000529710.1_Missense_Mutation_p.Q35E|PPP6R3_ENST00000534534.1_Intron|PPP6R3_ENST00000393800.2_Missense_Mutation_p.Q35E|PPP6R3_ENST00000393801.3_Missense_Mutation_p.Q35E|PPP6R3_ENST00000527403.2_Missense_Mutation_p.Q35E|PPP6R3_ENST00000265637.4_Missense_Mutation_p.Q35E|PPP6R3_ENST00000265636.5_Missense_Mutation_p.Q35E	p.Q35E			Q5H9R7	PP6R3_HUMAN			3	370	+			35					Q3B7I1|Q3I4Y0|Q3KR35|Q68CR3|Q7L4R8|Q8N3B2|Q96MB2|Q9H2K5|Q9H2K6|Q9HCL4|Q9NUY3	Missense_Mutation	SNP	ENST00000393800.2	37	c.103C>G	CCDS53672.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.804427	0.90623	.	.	ENSG00000110075	ENST00000393799;ENST00000393800;ENST00000533127;ENST00000529344;ENST00000524845;ENST00000265637;ENST00000524904;ENST00000393801;ENST00000265636;ENST00000529710;ENST00000527403;ENST00000531244	T;T;T;T;T;T;T;T;T;T;T;T	0.40476	1.03;1.03;1.03;1.03;1.03;1.03;1.03;1.03;1.03;1.03;1.03;1.03	4.9	4.9	0.64082	.	0.000000	0.85682	D	0.000000	T	0.72645	0.3486	M	0.91972	3.26	0.80722	D	1	D;D;D;D;D;D	0.89917	0.969;0.969;1.0;0.989;0.993;1.0	D;D;D;D;D;D	0.91635	0.943;0.966;0.999;0.925;0.99;0.999	T	0.79598	-0.1737	9	.	.	.	.	18.2664	0.90053	0.0:1.0:0.0:0.0	.	35;35;35;35;35;35	Q5H9R7-3;Q5H9R7-6;Q5H9R7-2;Q5H9R7;Q5H9R7-5;Q5H9R7-4	.;.;.;PP6R3_HUMAN;.;.	E	35	ENSP00000377388:Q35E;ENSP00000377389:Q35E;ENSP00000433768:Q35E;ENSP00000433551:Q35E;ENSP00000431415:Q35E;ENSP00000265637:Q35E;ENSP00000433058:Q35E;ENSP00000377390:Q35E;ENSP00000265636:Q35E;ENSP00000437329:Q35E;ENSP00000433565:Q35E;ENSP00000432837:Q35E	.	Q	+	1	0	PPP6R3	68061811	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.559000	0.82265	2.552000	0.86080	0.563000	0.77884	CAG		0.363	PPP6R3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395275.1	NM_018312		13	31	0	0	0	1	0	13	31				
HOXA4	3201	broad.mit.edu	37	7	27169062	27169062	+	Missense_Mutation	SNP	C	C	T	rs577912292		TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr7:27169062C>T	ENST00000360046.5	-	2	810	c.745G>A	c.(745-747)Gcc>Acc	p.A249T	HOXA3_ENST00000317201.2_5'Flank|HOXA-AS2_ENST00000521687.1_RNA|HOXA-AS2_ENST00000521159.1_RNA|RP1-170O19.22_ENST00000467897.2_RNA|HOXA-AS2_ENST00000517550.1_RNA|HOXA-AS3_ENST00000518848.1_RNA|HOXA4_ENST00000428284.2_Missense_Mutation_p.A249T|HOXA3_ENST00000521401.1_Intron	NM_002141.4	NP_002132.3	Q00056	HXA4_HUMAN	homeobox A4	249					anatomical structure morphogenesis (GO:0009653)|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)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)	12						AGCGTGTGGGCGATCTCGATG	0.572													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15738	0.0		0.0	False		,,,				2504	0.0					ENST00000360046.5																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)	12						c.(745-747)Gcc>Acc		homeobox A4							197.0	166.0	177.0					7																	27169062		2203	4300	6503	SO:0001583	missense	3201					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27169062C>T		CCDS5405.1	7p15.2	2011-06-20	2005-12-22		ENSG00000197576	ENSG00000197576		"""Homeoboxes / ANTP class : HOXL subclass"""	5105	protein-coding gene	gene with protein product		142953	"""homeo box A4"""	HOX1D, HOX1		1973146, 1358459	Standard	NM_002141		Approved		uc003sym.4	Q00056	OTTHUMG00000023213	ENST00000360046.5:c.745G>A	7.37:g.27169062C>T	ENSP00000353151:p.Ala249Thr					HOXA3_ENST00000467897.2_5'UTR|HOXA4_ENST00000428284.2_Missense_Mutation_p.A249T|HOXA-AS2_ENST00000521159.1_RNA	p.A249T	NM_002141.4	NP_002132.3	Q00056	HXA4_HUMAN			2	810	-			249					A4D180|O43366	Missense_Mutation	SNP	ENST00000360046.5	37	c.745G>A	CCDS5405.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	31|31	5.098371|5.098371	0.94197|0.94197	.|.	.|.	ENSG00000197576|ENSG00000197576	ENST00000360046;ENST00000428284|ENST00000511914	D;D|.	0.98164|.	-4.76;-4.76|.	5.29|5.29	5.29|5.29	0.74685|0.74685	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);|.	0.087235|.	0.44097|.	D|.	0.000492|.	D|D	0.88566|0.88566	0.6471|0.6471	H|H	0.96943|0.96943	3.91|3.91	0.80722|0.80722	D|D	1|1	D|.	0.61697|.	0.99|.	P|.	0.62382|.	0.901|.	D|D	0.92378|0.92378	0.5911|0.5911	10|5	0.87932|.	D|.	0|.	.|.	18.9816|18.9816	0.92757|0.92757	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	249|.	Q00056|.	HXA4_HUMAN|.	T|H	249|68	ENSP00000353151:A249T;ENSP00000408845:A249T|.	ENSP00000353151:A249T|.	A|R	-|-	1|2	0|0	HOXA4|HOXA4	27135587|27135587	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.728000|7.728000	0.84847|0.84847	2.485000|2.485000	0.83878|0.83878	0.555000|0.555000	0.69702|0.69702	GCC|CGC		0.572	HOXA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059534.4			56	60	0	0	0	1	0	56	60				
MED12	9968	broad.mit.edu	37	X	70356869	70356869	+	Silent	SNP	A	A	G			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chrX:70356869A>G	ENST00000374080.3	+	38	5573	c.5541A>G	c.(5539-5541)ccA>ccG	p.P1847P	MED12_ENST00000374102.1_Silent_p.P1847P|MED12_ENST00000333646.6_Silent_p.P1847P			Q93074	MED12_HUMAN	mediator complex subunit 12	1847	Interaction with CTNNB1 and GLI3.				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)					AGAACCAGCCACTACCTGCAG	0.567			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome																															ENST00000333646.6				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.(5539-5541)ccA>ccG		mediator complex subunit 12							12.0	15.0	14.0					X																	70356869		2008	4146	6154	SO:0001819	synonymous_variant	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:70356869A>G	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.5541A>G	X.37:g.70356869A>G						MED12_ENST00000374080.3_Silent_p.P1847P|MED12_ENST00000478889.1_3'UTR|MED12_ENST00000374102.1_Silent_p.P1847P	p.P1847P	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN			38	5740	+	Renal(35;0.156)		1847			Interaction with CTNNB1 and GLI3.		O15410|O75557|Q9UHV6|Q9UND7	Silent	SNP	ENST00000374080.3	37	c.5541A>G	CCDS43970.1	.	.	.	.	.	.	.	.	.	.	-	2.446	-0.327430	0.05350	.	.	ENSG00000184634	ENST00000444034	.	.	.	3.78	-4.35	0.03656	.	.	.	.	.	T	0.35828	0.0945	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37526	-0.9702	4	.	.	.	-7.2683	0.727	0.00950	0.3513:0.2126:0.2705:0.1656	.	.	.	.	R	68	.	.	H	+	2	0	MED12	70273594	0.885000	0.30320	0.810000	0.32431	0.642000	0.38348	-0.001000	0.12947	-0.616000	0.05671	-2.824000	0.00108	CAC		0.567	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120		9	12	0	0	0	1	0	9	12				
NPEPPS	9520	broad.mit.edu	37	17	45689855	45689855	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr17:45689855G>T	ENST00000322157.4	+	18	2362	c.2125G>T	c.(2125-2127)Gtt>Ttt	p.V709F	NPEPPS_ENST00000544660.1_Missense_Mutation_p.V629F|RP11-580I16.2_ENST00000582066.1_RNA|RP11-580I16.2_ENST00000582389.1_RNA|NPEPPS_ENST00000530173.1_Missense_Mutation_p.V705F	NM_006310.3	NP_006301.3	P55786	PSA_HUMAN	aminopeptidase puromycin sensitive	709					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular response to hypoxia (GO:0071456)|protein polyubiquitination (GO:0000209)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	27						GAGGGGCTTGGTTCTGGGAAA	0.428																																						ENST00000322157.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	27						c.(2125-2127)Gtt>Ttt		aminopeptidase puromycin sensitive							77.0	76.0	77.0					17																	45689855		1854	4096	5950	SO:0001583	missense	9520				proteolysis	cytosol|nucleus	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding	g.chr17:45689855G>T	Y07701	CCDS45721.1	17q12-q21	2008-07-18			ENSG00000141279	ENSG00000141279	3.4.11.2		7900	protein-coding gene	gene with protein product	"""puromycin-sensitive aminopeptidase"", ""metalloproteinase MP100"""	606793				9048733, 10329370	Standard	NM_006310		Approved	PSA, MP100	uc002ilr.4	P55786	OTTHUMG00000165471	ENST00000322157.4:c.2125G>T	17.37:g.45689855G>T	ENSP00000320324:p.Val709Phe					RP11-580I16.2_ENST00000582066.1_RNA|NPEPPS_ENST00000530173.1_Missense_Mutation_p.V705F|RP11-580I16.2_ENST00000582389.1_RNA|NPEPPS_ENST00000544660.1_Missense_Mutation_p.V629F	p.V709F	NM_006310.3	NP_006301.3	P55786	PSA_HUMAN			18	2362	+			709					B7Z463|Q6P145|Q9NP16|Q9UEM2	Missense_Mutation	SNP	ENST00000322157.4	37	c.2125G>T	CCDS45721.1	.	.	.	.	.	.	.	.	.	.	G	31	5.100979	0.94245	.	.	ENSG00000141279	ENST00000530173;ENST00000322157;ENST00000544660	T;T;T	0.08546	3.08;3.08;3.08	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.24392	0.0591	M	0.81341	2.54	0.80722	D	1	P;B;P	0.41102	0.738;0.321;0.612	P;P;P	0.48141	0.568;0.512;0.468	T	0.01195	-1.1422	10	0.87932	D	0	.	18.9979	0.92821	0.0:0.0:1.0:0.0	.	705;392;709	E9PLK3;B7Z1H4;P55786	.;.;PSA_HUMAN	F	705;709;629	ENSP00000433287:V705F;ENSP00000320324:V709F;ENSP00000442461:V629F	ENSP00000320324:V709F	V	+	1	0	NPEPPS	43044854	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.836000	0.99456	2.474000	0.83562	0.650000	0.86243	GTT		0.428	NPEPPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384269.1	NM_006310		13	18	1	0	4.3838e-07	1	4.98303e-07	13	18				
TMEM81	388730	broad.mit.edu	37	1	205053392	205053392	+	Silent	SNP	C	C	G			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr1:205053392C>G	ENST00000367167.3	-	1	253	c.57G>C	c.(55-57)ctG>ctC	p.L19L		NM_203376.1	NP_976310.1	Q6P7N7	TMM81_HUMAN	transmembrane protein 81	19						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9	all_cancers(21;0.144)|Breast(84;0.0437)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			CCACCAAAGGCAGGTAGAAGG	0.522																																						ENST00000367167.3																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9						c.(55-57)ctG>ctC		transmembrane protein 81							96.0	89.0	91.0					1																	205053392		2203	4300	6503	SO:0001819	synonymous_variant	388730					integral to membrane		g.chr1:205053392C>G	BC061592	CCDS1450.1	1q32.1	2013-01-11			ENSG00000174529	ENSG00000174529		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	32349	protein-coding gene	gene with protein product							Standard	NM_203376		Approved	UNQ2788, MGC75217, HC3107, KVLA2788	uc001hbt.3	Q6P7N7	OTTHUMG00000037103	ENST00000367167.3:c.57G>C	1.37:g.205053392C>G							p.L19L	NM_203376.1	NP_976310.1	Q6P7N7	TMM81_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0923)		1	253	-	all_cancers(21;0.144)|Breast(84;0.0437)		19					Q6UVZ4	Silent	SNP	ENST00000367167.3	37	c.57G>C	CCDS1450.1																																																																																				0.522	TMEM81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090076.1	NM_203376		36	41	0	0	0	1	0	36	41				
NXPE3	91775	broad.mit.edu	37	3	101535731	101535731	+	Missense_Mutation	SNP	C	C	T	rs147008534		TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr3:101535731C>T	ENST00000491511.2	+	7	1971	c.1015C>T	c.(1015-1017)Cgt>Tgt	p.R339C	NXPE3_ENST00000422132.1_Missense_Mutation_p.R339C|NXPE3_ENST00000477909.1_Missense_Mutation_p.R339C|NXPE3_ENST00000273347.5_Missense_Mutation_p.R339C	NM_001134456.1	NP_001127928.1	Q969Y0	NXPE3_HUMAN	neurexophilin and PC-esterase domain family, member 3	339						extracellular region (GO:0005576)											GTTTAAGATGCGTCAGTTTAA	0.393																																						ENST00000422132.1																			0											c.(1015-1017)Cgt>Tgt		neurexophilin and PC-esterase domain family, member 3		C	CYS/ARG,CYS/ARG	0,4406		0,0,2203	134.0	131.0	132.0		1015,1015	5.9	1.0	3	dbSNP_134	132	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	FAM55C	NM_001134456.1,NM_145037.2	180,180	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging	339/560,339/560	101535731	2,13004	2203	4300	6503	SO:0001583	missense	91775							g.chr3:101535731C>T	AK054664	CCDS2945.1	3q12.3	2012-06-14	2012-06-11	2012-06-11	ENSG00000144815	ENSG00000144815			28238	protein-coding gene	gene with protein product			"""family with sequence similarity 55, member C"""	FAM55C		12975309	Standard	NM_001134456		Approved	MGC15606	uc003dvn.3	Q969Y0	OTTHUMG00000159179	ENST00000491511.2:c.1015C>T	3.37:g.101535731C>T	ENSP00000417485:p.Arg339Cys					NXPE3_ENST00000491511.1_Missense_Mutation_p.R339C|NXPE3_ENST00000477909.1_Missense_Mutation_p.R339C|NXPE3_ENST00000273347.5_Missense_Mutation_p.R339C	p.R339C							4	1212	+								A8K0X4|D3DN53|Q7Z2S8	Missense_Mutation	SNP	ENST00000491511.2	37	c.1015C>T	CCDS2945.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.984486	0.93044	0.0	2.33E-4	ENSG00000144815	ENST00000273347;ENST00000491511;ENST00000477909;ENST00000422132	T;T;T;T	0.15372	2.43;2.43;2.43;2.43	5.86	5.86	0.93980	.	0.240895	0.49916	D	0.000125	T	0.36110	0.0955	M	0.85710	2.77	0.58432	D	0.999999	D	0.69078	0.997	P	0.50192	0.634	T	0.26430	-1.0103	10	0.72032	D	0.01	-21.1452	15.6886	0.77430	0.0:0.9328:0.0:0.0672	.	339	Q969Y0	FA55C_HUMAN	C	339	ENSP00000273347:R339C;ENSP00000417485:R339C;ENSP00000418369:R339C;ENSP00000396421:R339C	ENSP00000273347:R339C	R	+	1	0	FAM55C	103018421	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.886000	0.63149	2.937000	0.99478	0.650000	0.86243	CGT		0.393	NXPE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353711.2	NM_145037		38	36	0	0	0	1	0	38	36				
GBA3	57733	broad.mit.edu	37	4	22729287	22729287	+	RNA	SNP	T	T	G			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr4:22729287T>G	ENST00000503442.1	+	0	149				GBA3_ENST00000508166.1_RNA|GBA3_ENST00000511446.2_RNA	NM_001128432.2	NP_001121904.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						carbohydrate metabolic process (GO:0005975)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide catabolic process (GO:0046477)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	beta-galactosidase activity (GO:0004565)|beta-glucosidase activity (GO:0008422)|glycosylceramidase activity (GO:0017042)			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						AGGCACCCACTTTTCTTTCAC	0.403																																						ENST00000508166.1																			0				breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33								glucosidase, beta, acid 3 (gene/pseudogene)							153.0	157.0	156.0					4																	22729287		2202	4300	6502			57733				glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity	g.chr4:22729287T>G	AB017913		4p15.2	2013-05-09	2013-05-09		ENSG00000249948	ENSG00000249948	3.2.1.21		19069	protein-coding gene	gene with protein product	"""klotho-related protein"""	606619	"""glucosidase, beta, acid 3 (cytosolic)"""			11389701	Standard	NM_020973		Approved	GLUC, KLrP	uc031sdv.1	Q9H227	OTTHUMG00000160448		4.37:g.22729287T>G						GBA3_ENST00000511446.1_RNA|GBA3_ENST00000503442.1_RNA		NM_020973.4	NP_066024.1	Q9H227	GBA3_HUMAN			0	160	+								Q32LY7|Q3MIH4|Q53GG8|Q6NSF4|Q8NHT8|Q9H3T4|Q9H4C6	RNA	SNP	ENST00000503442.1	37																																																																																						0.403	GBA3-003	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000360620.2			23	183	0	0	0	1	0	23	183				
AC005863.1	0	broad.mit.edu	37	17	14673498	14673498	+	lincRNA	SNP	T	T	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr17:14673498T>A	ENST00000379640.1	-	0	399																											CATGTTCAGATCACTCCACCC	0.493																																						ENST00000379640.1																			0																				119.0	100.0	106.0					17																	14673498		2203	4300	6503			0							g.chr17:14673498T>A																													17.37:g.14673498T>A														0	399	-									RNA	SNP	ENST00000379640.1	37			.	.	.	.	.	.	.	.	.	.	T	0.038	-1.295618	0.01375	.	.	ENSG00000205325	ENST00000379640	.	.	.	1.43	1.43	0.22495	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.0334	0.14421	0.0:0.0:0.0:1.0	.	.	.	.	C	122	.	.	X	-	3	0	AC005863.1	14614223	0.001000	0.12720	0.007000	0.13788	0.012000	0.07955	0.020000	0.13466	0.936000	0.37367	0.372000	0.22366	TGA		0.493	AC005863.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000130001.1			10	11	0	0	0	1	0	10	11				
HCN1	348980	broad.mit.edu	37	5	45396744	45396744	+	Silent	SNP	C	C	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr5:45396744C>A	ENST00000303230.4	-	4	1137	c.1080G>T	c.(1078-1080)ggG>ggT	p.G360G		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	360					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GGGCTCCATACCCAATGCACA	0.478																																						ENST00000303230.4																			0				NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						c.(1078-1080)ggG>ggT		hyperpolarization activated cyclic nucleotide-gated potassium channel 1							108.0	93.0	98.0					5																	45396744		2203	4300	6503	SO:0001819	synonymous_variant	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45396744C>A	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.1080G>T	5.37:g.45396744C>A							p.G360G	NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN			4	1137	-			360						Silent	SNP	ENST00000303230.4	37	c.1080G>T	CCDS3952.1																																																																																				0.478	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		29	95	1	0	4.87955e-14	1	5.93054e-14	29	95				
SRBD1	55133	broad.mit.edu	37	2	45812822	45812822	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr2:45812822C>G	ENST00000263736.4	-	5	802	c.740G>C	c.(739-741)cGt>cCt	p.R247P		NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	247					nucleobase-containing compound metabolic process (GO:0006139)		hydrolase activity, acting on ester bonds (GO:0016788)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			TTTTCTATAACGTATAATGAA	0.353																																						ENST00000263736.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49						c.(739-741)cGt>cCt		S1 RNA binding domain 1							112.0	115.0	114.0					2																	45812822		2203	4300	6503	SO:0001583	missense	55133				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding	g.chr2:45812822C>G	AK056536	CCDS1823.1	2p21	2008-02-05			ENSG00000068784	ENSG00000068784			25521	protein-coding gene	gene with protein product						12477932	Standard	NM_018079		Approved	FLJ10379	uc002rus.3	Q8N5C6	OTTHUMG00000128814	ENST00000263736.4:c.740G>C	2.37:g.45812822C>G	ENSP00000263736:p.Arg247Pro						p.R247P	NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)		5	802	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	247					Q53T56|Q96TA4|Q9NW11	Missense_Mutation	SNP	ENST00000263736.4	37	c.740G>C	CCDS1823.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.371277	0.82573	.	.	ENSG00000068784	ENST00000263736	T	0.77229	-1.08	5.04	5.04	0.67666	Tex-like protein, N-terminal (1);Tex-like protein, HTH domain (1);	0.000000	0.64402	D	0.000002	D	0.91284	0.7252	M	0.93720	3.45	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93348	0.6716	10	0.87932	D	0	.	18.1738	0.89754	0.0:1.0:0.0:0.0	.	247	Q8N5C6	SRBD1_HUMAN	P	247	ENSP00000263736:R247P	ENSP00000263736:R247P	R	-	2	0	SRBD1	45666326	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.350000	0.73017	2.615000	0.88500	0.557000	0.71058	CGT		0.353	SRBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250747.3	NM_018079		6	34	0	0	0	1	0	6	34				
COX18	285521	broad.mit.edu	37	4	73930519	73930519	+	Silent	SNP	G	G	A	rs61741433	byFrequency	TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr4:73930519G>A	ENST00000295890.4	-	4	787	c.696C>T	c.(694-696)ggC>ggT	p.G232G	COX18_ENST00000507544.2_Silent_p.G233G	NM_173827.2	NP_776188.1	Q8N8Q8	COX18_HUMAN	COX18 cytochrome C oxidase assembly factor	232					protein insertion into mitochondrial membrane (GO:0051204)|protein transport (GO:0015031)|respiratory chain complex IV assembly (GO:0008535)	integral component of mitochondrial inner membrane (GO:0031305)	protein transporter activity (GO:0008565)			large_intestine(4)|lung(2)	6	Breast(15;0.00096)		Epithelial(6;1.26e-06)|OV - Ovarian serous cystadenocarcinoma(6;9.45e-06)|all cancers(17;2.05e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AATTGATGACGCCAACAGAGA	0.408													G|||	13	0.00259585	0.0083	0.0029	5008	,	,		17544	0.0		0.0	False		,,,				2504	0.0					ENST00000295890.4																			0				large_intestine(4)|lung(2)	6						c.(694-696)ggC>ggT		COX18 cytochrome C oxidase assembly factor		G		50,4356	50.9+/-86.3	0,50,2153	73.0	71.0	72.0		696	1.0	1.0	4	dbSNP_129	72	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	COX18	NM_173827.2		0,52,6451	AA,AG,GG		0.0233,1.1348,0.3998		232/334	73930519	52,12954	2203	4300	6503	SO:0001819	synonymous_variant	285521				protein insertion into mitochondrial membrane|respiratory chain complex IV assembly	integral to mitochondrial inner membrane	protein transporter activity	g.chr4:73930519G>A	AY957564	CCDS3554.1, CCDS75139.1	4q13.3	2013-06-12	2013-06-12		ENSG00000163626	ENSG00000163626		"""Mitochondrial respiratory chain complex assembly factors"""	26801	protein-coding gene	gene with protein product		610428	"""COX18 cytochrome c oxidase assembly homolog (S. cerevisiae)"", ""cytochrome c oxidase assembly homolog 18 (yeast)"""			16212937, 16911509	Standard	XM_005265679		Approved	FLJ38991	uc003hgm.1	Q8N8Q8	OTTHUMG00000129917	ENST00000295890.4:c.696C>T	4.37:g.73930519G>A						COX18_ENST00000507544.2_Silent_p.G233G	p.G232G	NM_173827.2	NP_776188.1	Q8N8Q8	COX18_HUMAN	Epithelial(6;1.26e-06)|OV - Ovarian serous cystadenocarcinoma(6;9.45e-06)|all cancers(17;2.05e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		4	787	-	Breast(15;0.00096)		232					Q2PB66|Q2PB67|Q2PB68|Q49B97|Q6IPP9	Silent	SNP	ENST00000295890.4	37	c.696C>T	CCDS3554.1																																																																																				0.408	COX18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252169.2	NM_173827		4	66	0	0	0	1	0	4	66				
MAT2A	4144	broad.mit.edu	37	2	85768241	85768241	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr2:85768241G>C	ENST00000306434.3	+	2	250	c.127G>C	c.(127-129)Gat>Cat	p.D43H	MAT2A_ENST00000409017.1_5'UTR	NM_005911.5	NP_005902.1	P31153	METK2_HUMAN	methionine adenosyltransferase II, alpha	43					cellular nitrogen compound metabolic process (GO:0034641)|methylation (GO:0032259)|one-carbon metabolic process (GO:0006730)|S-adenosylmethionine biosynthetic process (GO:0006556)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|methionine adenosyltransferase complex (GO:0048269)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|methionine adenosyltransferase activity (GO:0004478)			breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	9					L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	TGCTGTCCTTGATGCCCACCT	0.368																																						ENST00000306434.3																			0				breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	9						c.(127-129)Gat>Cat		methionine adenosyltransferase II, alpha	L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)						110.0	116.0	114.0					2																	85768241		2203	4300	6503	SO:0001583	missense	4144				methylation|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity	g.chr2:85768241G>C		CCDS1977.1	2p11.2	2008-06-03			ENSG00000168906	ENSG00000168906			6904	protein-coding gene	gene with protein product		601468				1426236, 9703951	Standard	NM_005911		Approved	SAMS2, MATA2, MATII	uc002spr.3	P31153	OTTHUMG00000130174	ENST00000306434.3:c.127G>C	2.37:g.85768241G>C	ENSP00000303147:p.Asp43His					MAT2A_ENST00000409017.1_5'UTR	p.D43H	NM_005911.5	NP_005902.1	P31153	METK2_HUMAN			2	250	+			43					A8K511|B4DN45|D6W5L1|Q53SP5	Missense_Mutation	SNP	ENST00000306434.3	37	c.127G>C	CCDS1977.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.393370	0.83011	.	.	ENSG00000168906	ENST00000306434	D	0.95588	-3.75	5.56	5.56	0.83823	S-adenosylmethionine synthetase, N-terminal (1);S-adenosylmethionine synthetase superfamily (1);	0.000000	0.85682	D	0.000000	D	0.98918	0.9633	H	0.99525	4.61	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99143	1.0856	10	0.87932	D	0	-18.5107	17.3856	0.87415	0.0:0.0:1.0:0.0	.	43	P31153	METK2_HUMAN	H	43	ENSP00000303147:D43H	ENSP00000303147:D43H	D	+	1	0	MAT2A	85621752	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.448000	0.97600	2.771000	0.95319	0.563000	0.77884	GAT		0.368	MAT2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252491.2	NM_005911		18	77	0	0	0	1	0	18	77				
CPNE4	131034	broad.mit.edu	37	3	131404727	131404727	+	Nonsense_Mutation	SNP	G	G	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr3:131404727G>A	ENST00000512055.1	-	10	2709	c.583C>T	c.(583-585)Cga>Tga	p.R195*	CPNE4_ENST00000429747.1_Nonsense_Mutation_p.R195*|CPNE4_ENST00000511604.1_Nonsense_Mutation_p.R195*|CPNE4_ENST00000502818.1_Nonsense_Mutation_p.R213*|CPNE4_ENST00000512332.1_Nonsense_Mutation_p.R213*			Q96A23	CPNE4_HUMAN	copine IV	195	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.					extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						ACCTCAGTTCGGTGCACCAGC	0.378																																						ENST00000512055.1																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						c.(583-585)Cga>Tga		copine IV							83.0	77.0	79.0					3																	131404727		2203	4300	6503	SO:0001587	stop_gained	131034							g.chr3:131404727G>A	H29499	CCDS3072.1, CCDS75010.1	3q22.1	2014-09-04			ENSG00000196353	ENSG00000196353			2317	protein-coding gene	gene with protein product	"""copine 8"""	604208				9430674, 12670487	Standard	XM_005247107		Approved	COPN4, CPN4	uc003eok.3	Q96A23	OTTHUMG00000159631	ENST00000512055.1:c.583C>T	3.37:g.131404727G>A	ENSP00000421705:p.Arg195*					CPNE4_ENST00000511604.1_Nonsense_Mutation_p.R195*|CPNE4_ENST00000502818.1_Nonsense_Mutation_p.R213*|CPNE4_ENST00000512332.1_Nonsense_Mutation_p.R213*|CPNE4_ENST00000429747.1_Nonsense_Mutation_p.R195*	p.R195*			Q96A23	CPNE4_HUMAN			10	2709	-			195			C2 2.		D3DNC5|Q8TEX1	Nonsense_Mutation	SNP	ENST00000512055.1	37	c.583C>T	CCDS3072.1	.	.	.	.	.	.	.	.	.	.	G	39	7.684566	0.98431	.	.	ENSG00000196353	ENST00000512055;ENST00000429747;ENST00000512332;ENST00000511604;ENST00000502818	.	.	.	5.81	3.7	0.42460	.	0.099589	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.5814	13.5274	0.61603	0.0:0.0:0.5128:0.4872	.	.	.	.	X	195;195;213;195;213	.	ENSP00000411904:R195X	R	-	1	2	CPNE4	132887417	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	2.939000	0.48995	1.300000	0.44818	0.638000	0.83543	CGA		0.378	CPNE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356583.4	NM_130808		17	27	0	0	0	1	0	17	27				
RP1	6101	broad.mit.edu	37	8	55533846	55533846	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr8:55533846C>A	ENST00000220676.1	+	2	468	c.320C>A	c.(319-321)tCc>tAc	p.S107Y		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	107	Doublecortin 1. {ECO:0000255|PROSITE- ProRule:PRU00072}.				axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TACCTATGTTCCCACGGCAGG	0.677																																					Colon(91;1014 1389 7634 14542 40420)	ENST00000220676.1																			0				NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169						c.(319-321)tCc>tAc		retinitis pigmentosa 1 (autosomal dominant)							53.0	53.0	53.0					8																	55533846		2203	4300	6503	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55533846C>A	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.320C>A	8.37:g.55533846C>A	ENSP00000220676:p.Ser107Tyr						p.S107Y	NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		2	468	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	107			Doublecortin 1.			Missense_Mutation	SNP	ENST00000220676.1	37	c.320C>A	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	C	17.71	3.456466	0.63401	.	.	ENSG00000104237	ENST00000220676	D	0.93189	-3.18	5.08	5.08	0.68730	Doublecortin domain (5);	0.231260	0.30940	N	0.008564	D	0.97371	0.9140	M	0.89534	3.04	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98270	1.0503	10	0.87932	D	0	-7.164	18.4723	0.90779	0.0:1.0:0.0:0.0	.	107	P56715	RP1_HUMAN	Y	107	ENSP00000220676:S107Y	ENSP00000220676:S107Y	S	+	2	0	RP1	55696399	1.000000	0.71417	0.798000	0.32154	0.033000	0.12548	7.651000	0.83577	2.367000	0.80283	0.585000	0.79938	TCC		0.677	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		9	98	1	0	0.00621372	1	0.00637511	9	98				
CELSR1	9620	broad.mit.edu	37	22	46804949	46804949	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr22:46804949C>G	ENST00000262738.3	-	9	5169	c.5170G>C	c.(5170-5172)Gag>Cag	p.E1724Q		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1724	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		ACGCTGTCCTCCTTCCGGGTC	0.642																																						ENST00000262738.3																			0				breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95						c.(5170-5172)Gag>Cag		cadherin, EGF LAG seven-pass G-type receptor 1							69.0	61.0	64.0					22																	46804949		2203	4300	6503	SO:0001583	missense	9620				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	g.chr22:46804949C>G	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.5170G>C	22.37:g.46804949C>G	ENSP00000262738:p.Glu1724Gln						p.E1724Q	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	9	5169	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	1724			Laminin G-like 2.		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	37	c.5170G>C	CCDS14076.1	.	.	.	.	.	.	.	.	.	.	C	9.028	0.986567	0.18889	.	.	ENSG00000075275	ENST00000262738	T	0.78481	-1.18	4.56	4.56	0.56223	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.542425	0.15893	U	0.239473	T	0.73458	0.3589	L	0.38838	1.175	0.80722	D	1	P;B	0.52316	0.952;0.396	P;B	0.50270	0.636;0.348	T	0.66893	-0.5808	10	0.14252	T	0.57	.	12.1047	0.53805	0.1721:0.8279:0.0:0.0	.	37;1724	B7Z7U7;Q9NYQ6	.;CELR1_HUMAN	Q	1724	ENSP00000262738:E1724Q	ENSP00000262738:E1724Q	E	-	1	0	CELSR1	45183613	0.897000	0.30589	0.997000	0.53966	0.701000	0.40568	2.547000	0.45786	2.090000	0.63153	0.561000	0.74099	GAG		0.642	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		46	3	0	0	0	1	0	46	3				
CACNA1B	774	broad.mit.edu	37	9	140772533	140772533	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr9:140772533G>A	ENST00000371372.1	+	1	293	c.148G>A	c.(148-150)Gcg>Acg	p.A50T	CACNA1B_ENST00000371357.1_Missense_Mutation_p.A50T|CACNA1B_ENST00000371355.4_Missense_Mutation_p.A50T|CACNA1B_ENST00000371363.1_Missense_Mutation_p.A50T|CACNA1B_ENST00000277551.2_Missense_Mutation_p.A50T|RP11-188C12.3_ENST00000371390.1_RNA|CACNA1B_ENST00000277549.5_5'UTR	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	50					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	GCAATCGATCGCGCAGCGCGC	0.731																																						ENST00000371372.1																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80						c.(148-150)Gcg>Acg		calcium channel, voltage-dependent, N type, alpha 1B subunit	Amlodipine(DB00381)|Gabapentin(DB00996)																																			SO:0001583	missense	774				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	g.chr9:140772533G>A	AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.148G>A	9.37:g.140772533G>A	ENSP00000360423:p.Ala50Thr					RP11-188C12.3_ENST00000371390.1_RNA|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000371355.4_Missense_Mutation_p.A50T|CACNA1B_ENST00000371363.1_Missense_Mutation_p.A50T|CACNA1B_ENST00000371357.1_Missense_Mutation_p.A50T|CACNA1B_ENST00000277551.2_Missense_Mutation_p.A50T	p.A50T	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	1	293	+	all_cancers(76;0.166)		50					B1AQK5	Missense_Mutation	SNP	ENST00000371372.1	37	c.148G>A	CCDS59522.1	.	.	.	.	.	.	.	.	.	.	G	33	5.227395	0.95173	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000371363;ENST00000371357;ENST00000371355	D;D;D;D;D	0.97870	-4.54;-4.58;-4.49;-4.52;-4.54	3.46	3.46	0.39613	.	0.000000	0.64402	U	0.000003	D	0.98270	0.9427	M	0.78916	2.43	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.97880	1.0291	10	0.27082	T	0.32	.	13.975	0.64268	0.0:0.0:1.0:0.0	.	50	B1AQK6	.	T	50	ENSP00000360423:A50T;ENSP00000277551:A50T;ENSP00000360414:A50T;ENSP00000360408:A50T;ENSP00000360406:A50T	ENSP00000277551:A50T	A	+	1	0	CACNA1B	139892354	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	6.589000	0.74080	1.497000	0.48584	0.298000	0.19748	GCG		0.731	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718		6	10	0	0	0	1	0	6	10				
TTN	7273	broad.mit.edu	37	2	179639016	179639016	+	Silent	SNP	G	G	C			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr2:179639016G>C	ENST00000591111.1	-	30	7199	c.6975C>G	c.(6973-6975)gtC>gtG	p.V2325V	TTN_ENST00000359218.5_Silent_p.V2279V|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.V2279V|TTN_ENST00000589042.1_Silent_p.V2325V|TTN-AS1_ENST00000584485.1_RNA|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000342992.6_Silent_p.V2325V|TTN_ENST00000360870.5_Silent_p.V2325V|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000342175.6_Silent_p.V2279V			Q8WZ42	TITIN_HUMAN	titin	12647	Ig-like 12.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTACATCCTTGACCGTGAGGT	0.408																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(6973-6975)gtC>gtG		titin							168.0	153.0	158.0					2																	179639016		2203	4300	6503	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179639016G>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.6975C>G	2.37:g.179639016G>C						TTN_ENST00000591111.1_Silent_p.V2325V|TTN-AS1_ENST00000584485.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.V2279V|TTN_ENST00000360870.5_Silent_p.V2325V|TTN_ENST00000359218.5_Silent_p.V2279V|TTN_ENST00000342992.6_Silent_p.V2325V|TTN_ENST00000342175.6_Silent_p.V2279V	p.V2325V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		30	7199	-			2042			Ig-like 12.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.6975C>G																																																																																					0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		20	52	0	0	0	1	0	20	52				
CYP2S1	29785	broad.mit.edu	37	19	41707232	41707232	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr19:41707232G>T	ENST00000310054.4	+	6	1147	c.931G>T	c.(931-933)Gtc>Ttc	p.V311F	CYP2S1_ENST00000542619.1_Missense_Mutation_p.V36F	NM_030622.6	NP_085125.1	Q96SQ9	CP2S1_HUMAN	cytochrome P450, family 2, subfamily S, polypeptide 1	311					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2)	14						CAGCACCACGGTCGGCTATAC	0.498																																						ENST00000310054.4																			0				breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2)	14						c.(931-933)Gtc>Ttc		cytochrome P450, family 2, subfamily S, polypeptide 1							155.0	139.0	144.0					19																	41707232		2203	4300	6503	SO:0001583	missense	29785				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity	g.chr19:41707232G>T	AA301039	CCDS12573.1	19q13.2	2013-11-11	2003-01-14		ENSG00000167600	ENSG00000167600		"""Cytochrome P450s"""	15654	protein-coding gene	gene with protein product		611529	"""cytochrome P450, subfamily IIS, polypeptide 1"""			11181079	Standard	NM_030622		Approved		uc002opw.3	Q96SQ9	OTTHUMG00000182721	ENST00000310054.4:c.931G>T	19.37:g.41707232G>T	ENSP00000308032:p.Val311Phe					CYP2S1_ENST00000542619.1_Missense_Mutation_p.V36F	p.V311F	NM_030622.6	NP_085125.1	Q96SQ9	CP2S1_HUMAN			6	1147	+			311					Q9BZ66	Missense_Mutation	SNP	ENST00000310054.4	37	c.931G>T	CCDS12573.1	.	.	.	.	.	.	.	.	.	.	G	14.19	2.462244	0.43736	.	.	ENSG00000167600	ENST00000301173;ENST00000310054;ENST00000542619	T;T	0.69561	-0.41;-0.41	5.2	-5.53	0.02552	.	0.529350	0.17328	U	0.178228	T	0.46190	0.1380	L	0.29908	0.895	0.09310	N	1	B;P	0.44946	0.02;0.846	B;B	0.41236	0.03;0.351	T	0.50783	-0.8787	10	0.87932	D	0	.	7.2777	0.26294	0.4811:0.3483:0.1706:0.0	.	36;311	B4DJI0;Q96SQ9	.;CP2S1_HUMAN	F	311;311;36	ENSP00000308032:V311F;ENSP00000445299:V36F	ENSP00000301173:V311F	V	+	1	0	CYP2S1	46399072	0.027000	0.19231	0.001000	0.08648	0.887000	0.51463	1.082000	0.30803	-0.650000	0.05423	0.478000	0.44815	GTC		0.498	CYP2S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463287.1			36	87	1	0	1.08052e-11	1	1.27405e-11	36	87				
ZNF234	10780	broad.mit.edu	37	19	44660704	44660704	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr19:44660704G>A	ENST00000426739.2	+	6	793	c.535G>A	c.(535-537)Gat>Aat	p.D179N	ZNF234_ENST00000592437.1_Missense_Mutation_p.D179N	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	179					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				TCATACATGTGATGAGTGTGG	0.388																																						ENST00000426739.2																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23						c.(535-537)Gat>Aat		zinc finger protein 234							137.0	139.0	138.0					19																	44660704		2203	4300	6503	SO:0001583	missense	10780				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44660704G>A	X78927	CCDS46101.1	19q13	2013-01-08				ENSG00000263002		"""Zinc fingers, C2H2-type"", ""-"""	13027	protein-coding gene	gene with protein product		604750		ZNF269		7865130	Standard	NM_006630		Approved	HZF4	uc002oyl.4	Q14588		ENST00000426739.2:c.535G>A	19.37:g.44660704G>A	ENSP00000400878:p.Asp179Asn					ZNF234_ENST00000592437.1_Missense_Mutation_p.D179N	p.D179N	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN			6	793	+		Prostate(69;0.0435)	179					A8K1C8|Q96IR4|Q9NS45|Q9NYT7	Missense_Mutation	SNP	ENST00000426739.2	37	c.535G>A	CCDS46101.1	.	.	.	.	.	.	.	.	.	.	G	12.01	1.809981	0.31961	.	.	ENSG00000167380	ENST00000426739;ENST00000542402	T	0.19532	2.14	4.19	-8.39	0.00969	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09202	0.0227	L	0.37561	1.115	0.09310	N	1	B	0.19331	0.035	B	0.25140	0.058	T	0.43180	-0.9407	9	0.02654	T	1	.	1.732	0.02934	0.2195:0.1044:0.1968:0.4792	.	179	Q14588	ZN234_HUMAN	N	179;10	ENSP00000400878:D179N	ENSP00000400878:D179N	D	+	1	0	ZNF226	49352544	0.000000	0.05858	0.000000	0.03702	0.992000	0.81027	-5.948000	0.00089	-1.769000	0.01297	0.586000	0.80456	GAT		0.388	ZNF234-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460586.2			35	78	0	0	0	1	0	35	78				
OR2S2	56656	broad.mit.edu	37	9	35957351	35957351	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr9:35957351C>G	ENST00000341959.2	-	1	800	c.745G>C	c.(745-747)Gtg>Ctg	p.V249L		NM_019897.2	NP_063950.2	Q9NQN1	OR2S1_HUMAN	olfactory receptor, family 2, subfamily S, member 2	249					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(32;0.00613)|STAD - Stomach adenocarcinoma(86;0.194)			AAGACGATCACCACGGTGAGG	0.507																																					Pancreas(172;293 2036 17878 24427 30946)	ENST00000341959.2																			0				central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)	17						c.(745-747)Gtg>Ctg		olfactory receptor, family 2, subfamily S, member 2							101.0	103.0	103.0					9																	35957351		2203	4300	6503	SO:0001583	missense	56656				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:35957351C>G	AL135841	CCDS6596.2	9p13.3	2012-08-09			ENSG00000122718	ENSG00000122718		"""GPCR / Class A : Olfactory receptors"""	8276	protein-coding gene	gene with protein product							Standard	NM_019897		Approved		uc011lpi.2	Q9NQN1	OTTHUMG00000019891	ENST00000341959.2:c.745G>C	9.37:g.35957351C>G	ENSP00000344040:p.Val249Leu						p.V249L	NM_019897.2	NP_063950.2	Q9NQN1	OR2S1_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00613)|STAD - Stomach adenocarcinoma(86;0.194)		1	800	-			249					Q2M3L0|Q6IF19|Q96R42	Missense_Mutation	SNP	ENST00000341959.2	37	c.745G>C	CCDS6596.2	.	.	.	.	.	.	.	.	.	.	C	10.79	1.449070	0.26074	.	.	ENSG00000122718	ENST00000341959	T	0.00355	7.91	4.17	3.28	0.37604	GPCR, rhodopsin-like superfamily (1);	0.146210	0.31134	N	0.008194	T	0.00875	0.0029	M	0.90650	3.135	0.09310	N	1	D	0.64830	0.994	D	0.70227	0.968	T	0.17776	-1.0358	10	0.87932	D	0	.	10.3694	0.44044	0.0:0.9023:0.0:0.0976	.	249	Q9NQN1	OR2S1_HUMAN	L	249	ENSP00000344040:V249L	ENSP00000344040:V249L	V	-	1	0	OR2S2	35947351	0.067000	0.21026	0.169000	0.22859	0.204000	0.24138	0.524000	0.22940	1.350000	0.45770	0.655000	0.94253	GTG		0.507	OR2S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052400.2	NM_019897		61	47	0	0	0	1	0	61	47				
GOLGA6B	55889	broad.mit.edu	37	15	72954797	72954797	+	Missense_Mutation	SNP	T	T	C	rs201618622	byFrequency	TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr15:72954797T>C	ENST00000421285.3	+	11	1052	c.1052T>C	c.(1051-1053)gTg>gCg	p.V351A	RN7SL853P_ENST00000477951.2_RNA	NM_018652.4	NP_061122.4	A6NDN3	GOG6B_HUMAN	golgin A6 family, member B	351						Golgi apparatus (GO:0005794)		p.V351A(4)		NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	16						GAGCAGGAGGTGCAGAGAGTG	0.562													t|||	142	0.0283546	0.0159	0.0274	5008	,	,		15500	0.0258		0.0249	False		,,,				2504	0.0521					ENST00000421285.3																			4	Substitution - Missense(4)	p.V351A(4)	skin(2)|lung(1)|endometrium(1)	NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	16						c.(1051-1053)gTg>gCg		golgin A6 family, member B							81.0	81.0	81.0					15																	72954797		2063	3889	5952	SO:0001583	missense	55889							g.chr15:72954797T>C		CCDS10245.2	15q24.1	2011-10-25	2010-02-12		ENSG00000215186	ENSG00000215186			32205	protein-coding gene	gene with protein product			"""golgi autoantigen, golgin subfamily a, 6B"""				Standard	XM_006720604		Approved		uc010uks.1	A6NDN3	OTTHUMG00000133511	ENST00000421285.3:c.1052T>C	15.37:g.72954797T>C	ENSP00000408132:p.Val351Ala						p.V351A	NM_018652.4	NP_061122.4	A6NDN3	GOG6B_HUMAN			11	1052	+			351					A8MYY7	Missense_Mutation	SNP	ENST00000421285.3	37	c.1052T>C	CCDS10245.2	.	.	.	.	.	.	.	.	.	.	.	0.612	-0.824760	0.02755	.	.	ENSG00000215186	ENST00000421285	T	0.21031	2.03	0.372	0.372	0.16173	.	.	.	.	.	T	0.07143	0.0181	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36601	-0.9741	9	0.27082	T	0.32	.	4.8248	0.13410	0.0:0.7182:0.0:0.2818	.	351	A6NDN3	GOG6B_HUMAN	A	351	ENSP00000408132:V351A	ENSP00000408132:V351A	V	+	2	0	GOLGA6B	70741851	0.000000	0.05858	0.144000	0.22314	0.053000	0.15095	-2.065000	0.01386	-1.296000	0.02353	-1.896000	0.00531	GTG		0.562	GOLGA6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257474.4	NM_018652		3	7	0	0	0	1	0	3	7				
HECTD4	283450	broad.mit.edu	37	12	112622580	112622580	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr12:112622580C>T	ENST00000430131.2	-	60	10069	c.8924G>A	c.(8923-8925)cGc>cAc	p.R2975H	HECTD4_ENST00000550722.1_Missense_Mutation_p.R3251H|HECTD4_ENST00000377560.5_Missense_Mutation_p.R3225H			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	2975					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										CACCAGCAAGCGGCTGTGGGC	0.697																																						ENST00000550722.1																			0											c.(9751-9753)cGc>cAc		HECT domain containing E3 ubiquitin protein ligase 4							104.0	133.0	123.0					12																	112622580		2131	4229	6360	SO:0001583	missense	283450							g.chr12:112622580C>T	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.8924G>A	12.37:g.112622580C>T	ENSP00000404379:p.Arg2975His					HECTD4_ENST00000430131.2_Missense_Mutation_p.R2975H|HECTD4_ENST00000377560.5_Missense_Mutation_p.R3225H	p.R3251H	NM_001109662.3	NP_001103132.3					61	10147	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	ENST00000430131.2	37	c.9752G>A		.	.	.	.	.	.	.	.	.	.	C	16.88	3.243411	0.58995	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	T;T;T	0.56103	0.48;0.49;0.48	5.61	4.72	0.59763	.	.	.	.	.	T	0.41026	0.1141	L	0.29908	0.895	0.54753	D	0.999983	D	0.54047	0.964	B	0.38327	0.271	T	0.47699	-0.9097	9	0.87932	D	0	.	15.8952	0.79329	0.1365:0.8635:0.0:0.0	.	2975	Q9Y4D8	K0614_HUMAN	H	3225;2975;3251	ENSP00000366783:R3225H;ENSP00000404379:R2975H;ENSP00000449784:R3251H	ENSP00000366783:R3225H	R	-	2	0	C12orf51	111106963	1.000000	0.71417	0.997000	0.53966	0.001000	0.01503	7.065000	0.76727	1.355000	0.45865	-0.182000	0.12963	CGC		0.697	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		19	91	0	0	0	1	0	19	91				
COL15A1	1306	broad.mit.edu	37	9	101832029	101832029	+	Missense_Mutation	SNP	G	G	T	rs556845594		TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr9:101832029G>T	ENST00000375001.3	+	42	4451	c.4028G>T	c.(4027-4029)cGa>cTa	p.R1343L		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	1343	Nonhelical region 10 (NC10).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				GAAGCATGGCGAACCGCGGAC	0.527																																						ENST00000375001.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107						c.(4027-4029)cGa>cTa		collagen, type XV, alpha 1							104.0	104.0	104.0					9																	101832029		2203	4300	6503	SO:0001583	missense	1306				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	g.chr9:101832029G>T	L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2192	protein-coding gene	gene with protein product	"""collagen type XV proteoglycan"""	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.4028G>T	9.37:g.101832029G>T	ENSP00000364140:p.Arg1343Leu						p.R1343L	NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN			42	4451	+		Acute lymphoblastic leukemia(62;0.0562)	1343			Nonhelical region 10 (NC10).		Q5T6J4|Q9UDC5|Q9Y4W4	Missense_Mutation	SNP	ENST00000375001.3	37	c.4028G>T	CCDS35081.1	.	.	.	.	.	.	.	.	.	.	G	19.36	3.812648	0.70912	.	.	ENSG00000204291	ENST00000375001	T	0.55760	0.5	6.17	6.17	0.99709	Collagenase NC10/endostatin (1);C-type lectin fold (1);C-type lectin-like (1);	0.060673	0.64402	D	0.000006	T	0.76183	0.3952	M	0.80616	2.505	0.58432	D	0.99999	D	0.89917	1.0	D	0.85130	0.997	T	0.77064	-0.2726	10	0.87932	D	0	-13.2277	19.6509	0.95805	0.0:0.0:1.0:0.0	.	1343	P39059	COFA1_HUMAN	L	1343	ENSP00000364140:R1343L	ENSP00000364140:R1343L	R	+	2	0	COL15A1	100871850	1.000000	0.71417	1.000000	0.80357	0.616000	0.37450	6.647000	0.74354	2.941000	0.99782	0.655000	0.94253	CGA		0.527	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855		13	102	1	0	0.00010058	1	0.000108106	13	102				
MED12	9968	broad.mit.edu	37	X	70350051	70350051	+	Missense_Mutation	SNP	A	A	C			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chrX:70350051A>C	ENST00000374080.3	+	28	4066	c.4034A>C	c.(4033-4035)aAg>aCg	p.K1345T	MED12_ENST00000374102.1_Missense_Mutation_p.K1345T|MED12_ENST00000333646.6_Missense_Mutation_p.K1345T			Q93074	MED12_HUMAN	mediator complex subunit 12	1345					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)					CAGCGCATAAAGCGCATTCTC	0.577			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome																															ENST00000333646.6				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.(4033-4035)aAg>aCg		mediator complex subunit 12							26.0	24.0	25.0					X																	70350051		1957	4136	6093	SO:0001583	missense	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:70350051A>C	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.4034A>C	X.37:g.70350051A>C	ENSP00000363193:p.Lys1345Thr					MED12_ENST00000374080.3_Missense_Mutation_p.K1345T|MED12_ENST00000478889.1_Intron|MED12_ENST00000374102.1_Missense_Mutation_p.K1345T	p.K1345T	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN			28	4233	+	Renal(35;0.156)		1345					O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	ENST00000374080.3	37	c.4034A>C	CCDS43970.1	.	.	.	.	.	.	.	.	.	.	A	6.651	0.488608	0.12641	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072;ENST00000439750	D;D;D;D;T	0.84516	-1.86;-1.86;-1.86;-1.86;1.43	4.48	3.29	0.37713	.	0.051921	0.85682	N	0.000000	T	0.76849	0.4045	L	0.40543	1.245	0.54753	D	0.999985	P;B;B;B	0.35542	0.508;0.039;0.178;0.374	B;B;B;B	0.36504	0.226;0.027;0.12;0.205	T	0.67929	-0.5543	10	0.13108	T	0.6	-17.376	10.6611	0.45702	0.8413:0.1587:0.0:0.0	.	1345;1192;1345;1345	F5H3Y1;Q7Z3Z5;Q93074-3;Q93074	.;.;.;MED12_HUMAN	T	1345;1345;1345;1345;1313;90	ENSP00000333125:K1345T;ENSP00000363215:K1345T;ENSP00000363193:K1345T;ENSP00000414203:K1313T;ENSP00000408388:K90T	ENSP00000333125:K1345T	K	+	2	0	MED12	70266776	1.000000	0.71417	0.997000	0.53966	0.962000	0.63368	6.927000	0.75840	0.657000	0.30906	0.441000	0.28932	AAG		0.577	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120		6	25	0	0	0	1	0	6	25				
CHD4	1108	broad.mit.edu	37	12	6692406	6692406	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr12:6692406G>A	ENST00000357008.2	-	26	4181	c.4018C>T	c.(4018-4020)Cgt>Tgt	p.R1340C	CHD4_ENST00000540960.1_5'UTR|RP5-940J5.6_ENST00000501075.2_RNA|CHD4_ENST00000544040.1_Missense_Mutation_p.R1333C|CHD4_ENST00000544484.1_Missense_Mutation_p.R1337C|CHD4_ENST00000309577.6_Missense_Mutation_p.R1340C|SCARNA11_ENST00000516089.1_RNA	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1340					ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						ACCTGTTTACGGATTCTTTTT	0.562																																					Colon(32;586 792 4568 16848 45314)	ENST00000309577.6																			0				central_nervous_system(2)	2						c.(4018-4020)Cgt>Tgt		chromodomain helicase DNA binding protein 4							187.0	179.0	182.0					12																	6692406		2203	4300	6503	SO:0001583	missense	1108				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	g.chr12:6692406G>A	X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.4018C>T	12.37:g.6692406G>A	ENSP00000349508:p.Arg1340Cys					CHD4_ENST00000544484.1_Missense_Mutation_p.R1337C|CHD4_ENST00000544040.1_Missense_Mutation_p.R1333C|CHD4_ENST00000540960.1_5'UTR|RP5-940J5.6_ENST00000501075.2_RNA|CHD4_ENST00000357008.2_Missense_Mutation_p.R1340C	p.R1340C			Q14839	CHD4_HUMAN			26	4181	-			1340					Q8IXZ5	Missense_Mutation	SNP	ENST00000357008.2	37	c.4018C>T	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	G	31	5.087789	0.94100	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	D;D;D;D	0.94232	-3.37;-3.14;-3.38;-3.13	5.96	5.96	0.96718	Domain of unknown function DUF1087 (1);	0.000000	0.85682	D	0.000000	D	0.96898	0.8987	M	0.78049	2.395	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.997	D	0.96740	0.9546	10	0.87932	D	0	-5.1013	20.422	0.99049	0.0:0.0:1.0:0.0	.	1340;1340;1333	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	C	1337;1333;1340;1340;1314	ENSP00000440392:R1337C;ENSP00000440542:R1333C;ENSP00000312419:R1340C;ENSP00000349508:R1340C	ENSP00000312419:R1340C	R	-	1	0	CHD4	6562667	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.441000	0.97557	2.832000	0.97577	0.655000	0.94253	CGT		0.562	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273		69	107	0	0	0	1	0	69	107				
LETM2	137994	broad.mit.edu	37	8	38260158	38260158	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr8:38260158C>A	ENST00000379957.4	+	7	1227	c.1100C>A	c.(1099-1101)aCg>aAg	p.T367K	LETM2_ENST00000523983.2_Missense_Mutation_p.T320K|RP11-350N15.3_ENST00000533301.1_RNA|LETM2_ENST00000524874.1_Missense_Mutation_p.T319K|LETM2_ENST00000528827.1_3'UTR|LETM2_ENST00000527710.1_Missense_Mutation_p.T153K|LETM2_ENST00000297720.5_Missense_Mutation_p.T272K	NM_001199659.1	NP_001186588.1	Q2VYF4	LETM2_HUMAN	leucine zipper-EF-hand containing transmembrane protein 2	367	LETM1.					integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				NS(1)|large_intestine(1)|lung(3)|prostate(2)	7	all_cancers(2;6.77e-47)|all_epithelial(2;1.01e-50)|all_lung(3;1.25e-23)|Lung NSC(2;2.76e-23)|Colorectal(12;0.000442)|Esophageal squamous(3;0.00202)	all_lung(54;0.0657)|Hepatocellular(245;0.152)|Lung NSC(58;0.175)	Epithelial(3;1.17e-42)|all cancers(3;5.44e-38)|BRCA - Breast invasive adenocarcinoma(5;5.44e-27)|LUSC - Lung squamous cell carcinoma(2;7.12e-25)|Lung(2;4.49e-22)|COAD - Colon adenocarcinoma(9;0.114)			CAACAGCTCACGGAGGCAAGT	0.542																																						ENST00000379957.4																			0				NS(1)|large_intestine(1)|lung(3)|prostate(2)	7						c.(1099-1101)aCg>aAg		leucine zipper-EF-hand containing transmembrane protein 2							86.0	74.0	78.0					8																	38260158		2203	4300	6503	SO:0001583	missense	137994					integral to membrane|mitochondrial inner membrane		g.chr8:38260158C>A	AK058138	CCDS6106.1, CCDS56534.1, CCDS69466.1, CCDS75731.1	8p12	2013-01-11						"""EF-hand domain containing"""	14648	protein-coding gene	gene with protein product						11549311	Standard	NM_001286821		Approved	FLJ25409	uc003xlm.2	Q2VYF4		ENST00000379957.4:c.1100C>A	8.37:g.38260158C>A	ENSP00000369291:p.Thr367Lys					LETM2_ENST00000524874.1_Missense_Mutation_p.T319K|LETM2_ENST00000527710.1_Missense_Mutation_p.T153K|LETM2_ENST00000297720.5_Missense_Mutation_p.T272K|LETM2_ENST00000523983.2_Missense_Mutation_p.T320K|LETM2_ENST00000528827.1_3'UTR	p.T367K	NM_001199659.1	NP_001186588.1	Q2VYF4	LETM2_HUMAN	Epithelial(3;1.17e-42)|all cancers(3;5.44e-38)|BRCA - Breast invasive adenocarcinoma(5;5.44e-27)|LUSC - Lung squamous cell carcinoma(2;7.12e-25)|Lung(2;4.49e-22)|COAD - Colon adenocarcinoma(9;0.114)		7	1227	+	all_cancers(2;6.77e-47)|all_epithelial(2;1.01e-50)|all_lung(3;1.25e-23)|Lung NSC(2;2.76e-23)|Colorectal(12;0.000442)|Esophageal squamous(3;0.00202)	all_lung(54;0.0657)|Hepatocellular(245;0.152)|Lung NSC(58;0.175)	367			LETM1.		A6NMG3|Q8NCR2|Q96LL1	Missense_Mutation	SNP	ENST00000379957.4	37	c.1100C>A		.	.	.	.	.	.	.	.	.	.	C	6.088	0.384530	0.11524	.	.	ENSG00000165046	ENST00000297720;ENST00000524874;ENST00000379957;ENST00000523983;ENST00000527710	T;T;T;T;T	0.38887	1.11;1.11;1.11;1.11;1.11	5.63	4.74	0.60224	LETM1-like (1);	0.359832	0.31392	N	0.007737	T	0.18964	0.0455	N	0.11364	0.135	0.35276	D	0.78093	B;B;P	0.37158	0.002;0.012;0.585	B;B;B	0.35859	0.007;0.022;0.212	T	0.27434	-1.0074	10	0.02654	T	1	-5.9475	9.1381	0.36886	0.2404:0.4888:0.2709:0.0	.	164;367;319	B7Z7T4;Q2VYF4;E9PMA4	.;LETM2_HUMAN;.	K	272;319;367;320;153	ENSP00000297720:T272K;ENSP00000431211:T319K;ENSP00000369291:T367K;ENSP00000428765:T320K;ENSP00000434867:T153K	ENSP00000297720:T272K	T	+	2	0	LETM2	38379315	0.225000	0.23685	1.000000	0.80357	0.907000	0.53573	0.355000	0.20163	1.341000	0.45600	0.655000	0.94253	ACG		0.542	LETM2-013	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000381816.1	NM_144652		22	51	1	0	7.3207e-31	1	9.25336e-31	22	51				
HPN	3249	broad.mit.edu	37	19	35540200	35540200	+	Missense_Mutation	SNP	G	G	A	rs149970077	byFrequency	TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr19:35540200G>A	ENST00000262626.2	+	3	848	c.23G>A	c.(22-24)cGg>cAg	p.R8Q	HPN_ENST00000597419.1_Intron|HPN_ENST00000392226.1_Missense_Mutation_p.R8Q	NM_182983.2	NP_892028.1	P05981	HEPS_HUMAN	hepsin	8					basement membrane disassembly (GO:0034769)|cholesterol homeostasis (GO:0042632)|cochlea morphogenesis (GO:0090103)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|epithelium development (GO:0060429)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pilomotor reflex (GO:0097195)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of cell growth (GO:0030307)|positive regulation of gene expression (GO:0010628)|positive regulation of hepatocyte proliferation (GO:2000347)|positive regulation of plasminogen activation (GO:0010756)|positive regulation of thyroid hormone generation (GO:2000611)|potassium ion transmembrane transport (GO:0071805)|proteolysis (GO:0006508)|regulation of cell shape (GO:0008360)|response to thyroid hormone (GO:0097066)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium-activated potassium channel activity (GO:0015269)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)|serine-type peptidase activity (GO:0008236)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	19	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Coagulation factor VIIa(DB00036)	GCAGGTGGCCGGACTGTGCCA	0.672													G|||	13	0.00259585	0.0091	0.0014	5008	,	,		17288	0.0		0.0	False		,,,				2504	0.0					ENST00000262626.2																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	19						c.(22-24)cGg>cAg		hepsin	Coagulation factor VIIa(DB00036)	G	GLN/ARG,GLN/ARG	30,4376	36.0+/-67.5	0,30,2173	85.0	83.0	84.0		23,23	-0.5	0.9	19	dbSNP_134	84	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	HPN	NM_002151.2,NM_182983.2	43,43	0,31,6472	AA,AG,GG		0.0116,0.6809,0.2384	benign,benign	8/418,8/418	35540200	31,12975	2203	4300	6503	SO:0001583	missense	3249				cell growth|proteolysis	cytoplasm|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr19:35540200G>A		CCDS32993.1	19q13.12	2013-04-25	2008-12-08		ENSG00000105707	ENSG00000105707		"""Serine peptidases / Transmembrane"""	5155	protein-coding gene	gene with protein product	"""transmembrane protease, serine 1"""	142440				2835076	Standard	NM_182983		Approved	TMPRSS1	uc002nxq.2	P05981	OTTHUMG00000182474	ENST00000262626.2:c.23G>A	19.37:g.35540200G>A	ENSP00000262626:p.Arg8Gln					HPN_ENST00000392226.1_Missense_Mutation_p.R8Q|HPN_ENST00000597419.1_Intron	p.R8Q	NM_182983.2	NP_892028.1	P05981	HEPS_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		3	848	+	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		8					B2RDS4	Missense_Mutation	SNP	ENST00000262626.2	37	c.23G>A	CCDS32993.1	5	0.0022893772893772895	4	0.008130081300813009	1	0.0027624309392265192	0	0.0	0	0.0	G	13.15	2.149765	0.37923	0.006809	1.16E-4	ENSG00000105707	ENST00000262626;ENST00000392226	D;D	0.88277	-2.36;-2.36	4.85	-0.517	0.11947	.	0.325881	0.24074	N	0.041781	T	0.72740	0.3498	L	0.27053	0.805	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.62765	-0.6785	10	0.52906	T	0.07	.	7.5628	0.27862	0.4296:0.0:0.5704:0.0	.	8	P05981	HEPS_HUMAN	Q	8	ENSP00000262626:R8Q;ENSP00000376060:R8Q	ENSP00000262626:R8Q	R	+	2	0	HPN	40232040	0.690000	0.27699	0.853000	0.33588	0.955000	0.61496	-0.217000	0.09253	-0.168000	0.10853	0.313000	0.20887	CGG		0.672	HPN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461573.1	NM_002151		31	216	0	0	0	1	0	31	216				
ANKFN1	162282	broad.mit.edu	37	17	54558122	54558122	+	Nonsense_Mutation	SNP	C	C	G			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr17:54558122C>G	ENST00000318698.2	+	16	2078	c.2043C>G	c.(2041-2043)taC>taG	p.Y681*	ANKFN1_ENST00000566473.2_Nonsense_Mutation_p.Y681*	NM_153228.2	NP_694960.2	Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	681										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						TGTTCTTCTACGAGCTCCAGA	0.418																																						ENST00000566473.2																			0				NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						c.(2041-2043)taC>taG		ankyrin-repeat and fibronectin type III domain containing 1							197.0	190.0	192.0					17																	54558122		2203	4300	6503	SO:0001587	stop_gained	162282							g.chr17:54558122C>G	AK095654	CCDS32686.1	17q23.2	2014-02-12	2005-11-15		ENSG00000153930	ENSG00000153930		"""Ankyrin repeat domain containing"", ""Fibronectin type III domain containing"""	26766	protein-coding gene	gene with protein product							Standard	NM_153228		Approved	FLJ38335	uc002iun.1	Q8N957	OTTHUMG00000155010	ENST00000318698.2:c.2043C>G	17.37:g.54558122C>G	ENSP00000321627:p.Tyr681*					ANKFN1_ENST00000318698.2_Nonsense_Mutation_p.Y681*	p.Y681*			Q8N957	ANKF1_HUMAN			16	2043	+			681						Nonsense_Mutation	SNP	ENST00000318698.2	37	c.2043C>G	CCDS32686.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.563806	0.86335	.	.	ENSG00000153930	ENST00000318698	.	.	.	5.37	-1.95	0.07548	.	0.307499	0.36972	N	0.002313	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.8791	6.1459	0.20285	0.0:0.21:0.1602:0.6299	.	.	.	.	X	681	.	ENSP00000321627:Y681X	Y	+	3	2	ANKFN1	51913121	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	0.667000	0.25112	0.013000	0.14918	-0.136000	0.14681	TAC		0.418	ANKFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338043.1	NM_153228		36	71	0	0	0	1	0	36	71				
NOD2	64127	broad.mit.edu	37	16	50745263	50745263	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr16:50745263G>C	ENST00000300589.2	+	4	1546	c.1441G>C	c.(1441-1443)Ggt>Cgt	p.G481R	RP11-327F22.6_ENST00000602304.1_RNA	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	481	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of MAPK activity (GO:0000187)|activation of MAPK activity involved in innate immune response (GO:0035419)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|cytokine production involved in immune response (GO:0002367)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|detection of muramyl dipeptide (GO:0032498)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|innate immune response (GO:0045087)|innate immune response in mucosa (GO:0002227)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|macrophage inflammatory protein-1 alpha production (GO:0071608)|maintenance of gastrointestinal epithelium (GO:0030277)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-18 production (GO:0032701)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell mediated immunity (GO:0002710)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of tumor necrosis factor production (GO:0032720)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of B cell activation (GO:0050871)|positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria (GO:0006965)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell cytokine production (GO:0002732)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gamma-delta T cell activation (GO:0046645)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of prostaglandin-E synthase activity (GO:2000363)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type 2 immune response (GO:0002830)|protein oligomerization (GO:0051259)|regulation of inflammatory response (GO:0050727)|regulation of neutrophil chemotaxis (GO:0090022)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to muramyl dipeptide (GO:0032495)|response to nutrient (GO:0007584)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|enzyme binding (GO:0019899)|muramyl dipeptide binding (GO:0032500)|peptidoglycan binding (GO:0042834)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				AGCCCTGCACGGTTTGTGCCA	0.597																																						ENST00000300589.2																			0				cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52						c.(1441-1443)Ggt>Cgt		nucleotide-binding oligomerization domain containing 2							70.0	72.0	71.0					16																	50745263		2198	4300	6498	SO:0001583	missense	64127				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding	g.chr16:50745263G>C	AF178930	CCDS10746.1	16q12	2014-09-17	2006-12-08	2006-12-08	ENSG00000167207	ENSG00000167207		"""Nucleotide-binding domain and leucine rich repeat containing"""	5331	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2"", ""NOD-like receptor C2"", ""NLR family, CARD domain containing 2"""	605956	"""caspase recruitment domain family, member 15"""	IBD1, CARD15		7809109, 8587604	Standard	XM_005256084		Approved	BLAU, CD, PSORAS1, CLR16.3, NLRC2	uc002egm.1	Q9HC29	OTTHUMG00000133171	ENST00000300589.2:c.1441G>C	16.37:g.50745263G>C	ENSP00000300589:p.Gly481Arg						p.G481R	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN			4	1546	+		all_cancers(37;0.0156)	481			NACHT.		E2JEQ6|Q96RH5|Q96RH6|Q96RH8	Missense_Mutation	SNP	ENST00000300589.2	37	c.1441G>C	CCDS10746.1	.	.	.	.	.	.	.	.	.	.	G	11.94	1.788247	0.31593	.	.	ENSG00000167207	ENST00000526417;ENST00000300589	T	0.69561	-0.41	5.28	4.32	0.51571	.	0.000000	0.64402	D	0.000007	T	0.80874	0.4707	M	0.85373	2.75	0.54753	D	0.99998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	T	0.81265	-0.1011	10	0.54805	T	0.06	.	8.4794	0.33034	0.1783:0.0:0.8217:0.0	.	265;454;481	D6CHF9;Q9HC29-2;Q9HC29	.;.;NOD2_HUMAN	R	454;481	ENSP00000300589:G481R	ENSP00000300589:G481R	G	+	1	0	NOD2	49302764	0.997000	0.39634	0.066000	0.19879	0.117000	0.20001	2.640000	0.46579	1.216000	0.43427	0.561000	0.74099	GGT		0.597	NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256876.2	NM_022162		41	65	0	0	0	1	0	41	65				
MICALCL	84953	broad.mit.edu	37	11	12315221	12315221	+	Nonsense_Mutation	SNP	T	T	G			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr11:12315221T>G	ENST00000256186.2	+	3	534	c.243T>G	c.(241-243)taT>taG	p.Y81*		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	81	Interaction with MAPK1. {ECO:0000250}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	mitogen-activated protein kinase binding (GO:0051019)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		TTCCCCTGTATCTGCCTCATC	0.587																																						ENST00000256186.2																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30						c.(241-243)taT>taG		MICAL C-terminal like							137.0	144.0	142.0					11																	12315221		1971	4150	6121	SO:0001587	stop_gained	84953				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding	g.chr11:12315221T>G	BK000463	CCDS41620.1	11p15.3	2005-11-01			ENSG00000133808	ENSG00000133808			25933	protein-coding gene	gene with protein product		612355				12110185	Standard	NM_032867		Approved	FLJ14966	uc001mkg.1	Q6ZW33	OTTHUMG00000165777	ENST00000256186.2:c.243T>G	11.37:g.12315221T>G	ENSP00000256186:p.Tyr81*						p.Y81*	NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN		Epithelial(150;0.00177)	3	534	+			81			Interaction with MAPK1 (By similarity).		Q7RTP7|Q96JU6	Nonsense_Mutation	SNP	ENST00000256186.2	37	c.243T>G	CCDS41620.1	.	.	.	.	.	.	.	.	.	.	T	37	6.176431	0.97348	.	.	ENSG00000133808	ENST00000256186	.	.	.	5.71	-7.0	0.01599	.	0.365741	0.20035	N	0.100638	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.719	0.91686	0.0:0.7806:0.0:0.2194	.	.	.	.	X	81	.	ENSP00000256186:Y81X	Y	+	3	2	MICALCL	12271797	0.000000	0.05858	0.001000	0.08648	0.371000	0.29859	-1.455000	0.02379	-1.254000	0.02485	-0.264000	0.10439	TAT		0.587	MICALCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386164.1	NM_032867		6	189	0	0	0	1	0	6	189				
SF3B1	23451	broad.mit.edu	37	2	198285262	198285262	+	Missense_Mutation	SNP	T	T	G			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr2:198285262T>G	ENST00000335508.6	-	4	396	c.305A>C	c.(304-306)gAt>gCt	p.D102A	SF3B1_ENST00000409915.4_Missense_Mutation_p.D102A|SF3B1_ENST00000487698.1_Missense_Mutation_p.D102A|SF3B1_ENST00000414963.2_Missense_Mutation_p.D102A	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	102					anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			AGCAAATGGATCATACTGAAA	0.368			Mis		myelodysplastic syndrome																																	ENST00000335508.5				Dom	yes		2	2q33.1	23451	Mis	"""splicing factor 3b, subunit 1, 155kDa"""			L			myelodysplastic syndrome		0				NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633						c.(304-306)gAt>gCt		splicing factor 3b, subunit 1, 155kDa							135.0	129.0	131.0					2																	198285262		2203	4300	6503	SO:0001583	missense	23451				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	g.chr2:198285262T>G	AF054284	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524			10768	protein-coding gene	gene with protein product		605590	"""splicing factor 3b, subunit 1, 155kD"""			9585501	Standard	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	O75533	OTTHUMG00000154447	ENST00000335508.6:c.305A>C	2.37:g.198285262T>G	ENSP00000335321:p.Asp102Ala					SF3B1_ENST00000487698.1_Missense_Mutation_p.D102A|SF3B1_ENST00000409915.4_Missense_Mutation_p.D102A|SF3B1_ENST00000414963.2_Missense_Mutation_p.D102A	p.D102A	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		4	396	-			102					E9PCH3	Missense_Mutation	SNP	ENST00000335508.6	37	c.305A>C	CCDS33356.1	.	.	.	.	.	.	.	.	.	.	T	30	5.054105	0.93793	.	.	ENSG00000115524	ENST00000335508;ENST00000409915;ENST00000414963;ENST00000487698	.	.	.	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	D	0.83640	0.5298	M	0.85197	2.74	0.80722	D	1	D;D;B	0.76494	0.999;0.996;0.301	D;D;B	0.80764	0.994;0.986;0.117	D	0.85220	0.1026	9	0.52906	T	0.07	.	16.6102	0.84881	0.0:0.0:0.0:1.0	.	102;102;102	B4DGZ4;E9PCH3;O75533	.;.;SF3B1_HUMAN	A	102	.	ENSP00000335321:D102A	D	-	2	0	SF3B1	197993507	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.870000	0.87175	2.326000	0.78906	0.523000	0.50628	GAT		0.368	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2			38	17	0	0	0	1	0	38	17				
TRBV25-1	28562	broad.mit.edu	37	7	142378879	142378879	+	RNA	SNP	C	C	A	rs371874177		TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr7:142378879C>A	ENST00000390398.3	+	0	184									T cell receptor beta variable 25-1																		TGGGCCATGACAAAATGTACT	0.443																																						ENST00000390398.3																			0																				148.0	141.0	143.0					7																	142378879		1916	4130	6046			0							g.chr7:142378879C>A	L27610		7q34	2012-02-07			ENSG00000211751	ENSG00000211751		"""T cell receptors / TRB locus"""	12205	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV251, TCRBV11S1A1T, TCRBV25S1			OTTHUMG00000158868		7.37:g.142378879C>A														0	184	+									RNA	SNP	ENST00000390398.3	37																																																																																						0.443	TRBV25-1-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000352476.2	NG_001333		41	49	1	0	2.40579e-17	1	2.99303e-17	41	49				
ADAMTS3	9508	broad.mit.edu	37	4	73205322	73205322	+	Missense_Mutation	SNP	G	G	C	rs142264188		TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr4:73205322G>C	ENST00000286657.4	-	5	786	c.750C>G	c.(748-750)caC>caG	p.H250Q		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	250					collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TTTCTCCCGCGTGTCTGCGGC	0.502																																					NSCLC(168;1941 2048 2918 13048 43078)	ENST00000286657.4																			0				NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(748-750)caC>caG		ADAM metallopeptidase with thrombospondin type 1 motif, 3							262.0	250.0	254.0					4																	73205322		2203	4300	6503	SO:0001583	missense	9508				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	g.chr4:73205322G>C	AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"""ADAM metallopeptidases with thrombospondin type 1 motif"""	219	protein-coding gene	gene with protein product		605011	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"""			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.750C>G	4.37:g.73205322G>C	ENSP00000286657:p.His250Gln						p.H250Q	NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		5	786	-			250					A1L3U9|Q9BXZ8	Missense_Mutation	SNP	ENST00000286657.4	37	c.750C>G	CCDS3553.1	.	.	.	.	.	.	.	.	.	.	G	9.278	1.047489	0.19827	.	.	ENSG00000156140	ENST00000286657	T	0.60797	0.16	5.31	-1.59	0.08453	.	0.061074	0.64402	D	0.000005	T	0.69287	0.3094	M	0.73217	2.22	0.48452	D	0.999654	D	0.69078	0.997	D	0.69824	0.966	T	0.69789	-0.5050	10	0.59425	D	0.04	.	12.408	0.55451	0.5981:0.0:0.4019:0.0	.	250	O15072	ATS3_HUMAN	Q	250	ENSP00000286657:H250Q	ENSP00000286657:H250Q	H	-	3	2	ADAMTS3	73424186	0.778000	0.28640	0.316000	0.25252	0.020000	0.10135	-0.010000	0.12743	-0.307000	0.08804	-0.251000	0.11542	CAC		0.502	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2			6	247	0	0	0	1	0	6	247				
RETSAT	54884	broad.mit.edu	37	2	85577956	85577956	+	Nonsense_Mutation	SNP	C	C	A	rs201313189		TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr2:85577956C>A	ENST00000295802.4	-	3	656	c.544G>T	c.(544-546)Gag>Tag	p.E182*	RETSAT_ENST00000457495.2_Nonsense_Mutation_p.E121*|RETSAT_ENST00000263854.6_Nonsense_Mutation_p.E182*	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN	retinol saturase (all-trans-retinol 13,14-reductase)	182					oxidation-reduction process (GO:0055114)|retinol metabolic process (GO:0042572)	endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear outer membrane (GO:0005640)	all-trans-retinol 13,14-reductase activity (GO:0051786)|oxidoreductase activity (GO:0016491)			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	GGAAACTTCTCCTTGAGGCCC	0.483																																						ENST00000295802.4																			0				NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30						c.(544-546)Gag>Tag		retinol saturase (all-trans-retinol 13,14-reductase)	Vitamin A(DB00162)						147.0	139.0	142.0					2																	85577956		2203	4300	6503	SO:0001587	stop_gained	54884				retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity	g.chr2:85577956C>A	AK075261	CCDS1972.1	2p11.2	2008-02-05			ENSG00000042445	ENSG00000042445	1.3.99.23		25991	protein-coding gene	gene with protein product						12975309, 15358783	Standard	NM_017750		Approved	FLJ20296	uc002spd.3	Q6NUM9	OTTHUMG00000154611	ENST00000295802.4:c.544G>T	2.37:g.85577956C>A	ENSP00000295802:p.Glu182*					RETSAT_ENST00000457495.2_Nonsense_Mutation_p.E121*|RETSAT_ENST00000263854.6_Nonsense_Mutation_p.E182*	p.E182*	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN			3	656	-			182					A6NIK3|Q53R95|Q53SA9|Q6UX05|Q8N2H5|Q96FA4|Q9NXE5	Nonsense_Mutation	SNP	ENST00000295802.4	37	c.544G>T	CCDS1972.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.811666|5.811666	0.96975|0.96975	.|.	.|.	ENSG00000042445|ENSG00000042445	ENST00000295802;ENST00000263854;ENST00000457495|ENST00000409984	.|.	.|.	.|.	5.92|5.92	5.04|5.04	0.67666|0.67666	.|.	0.161319|.	0.53938|.	D|.	0.000041|.	.|T	.|0.53481	.|0.1799	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.64219	.|-0.6459	.|3	0.02654|.	T|.	1|.	-18.588|-18.588	9.5231|9.5231	0.39147|0.39147	0.0:0.8386:0.0:0.1614|0.0:0.8386:0.0:0.1614	.|.	.|.	.|.	.|.	X|S	182;182;121|120	.|.	ENSP00000263854:E182X|.	E|R	-|-	1|3	0|2	RETSAT|RETSAT	85431467|85431467	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.933000|0.933000	0.57130|0.57130	2.598000|2.598000	0.46223|0.46223	1.490000|1.490000	0.48466|0.48466	0.655000|0.655000	0.94253|0.94253	GAG|AGG		0.483	RETSAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252489.1	NM_017750		10	108	1	0	0.000442599	1	0.000463117	10	108				
BCHE	590	broad.mit.edu	37	3	165547849	165547849	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr3:165547849C>A	ENST00000264381.3	-	2	1139	c.973G>T	c.(973-975)Gat>Tat	p.D325Y	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	325					cellular protein metabolic process (GO:0044267)|choline metabolic process (GO:0019695)|cocaine metabolic process (GO:0050783)|learning (GO:0007612)|negative regulation of cell proliferation (GO:0008285)|negative regulation of synaptic transmission (GO:0050805)|neuroblast differentiation (GO:0014016)|response to alkaloid (GO:0043279)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|synaptic transmission, cholinergic (GO:0007271)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)	acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|catalytic activity (GO:0003824)|choline binding (GO:0033265)|cholinesterase activity (GO:0004104)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Aclidinium(DB08897)|Ambenonium(DB01122)|Bambuterol(DB01408)|Chloroprocaine(DB01161)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinchocaine(DB00527)|Cisplatin(DB00515)|Clevidipine(DB04920)|Cyclopentolate(DB00979)|Decamethonium(DB01245)|Demecarium(DB00944)|Diethylcarbamazine(DB00711)|Dipivefrin(DB00449)|Doxacurium chloride(DB01135)|Drospirenone(DB01395)|Echothiophate(DB01057)|Edrophonium(DB01010)|Ephedrine(DB01364)|Ethopropazine(DB00392)|Galantamine(DB00674)|Hexafluronium(DB00941)|Irinotecan(DB00762)|Isoflurophate(DB00677)|Malathion(DB00772)|Mefloquine(DB00358)|Mirabegron(DB08893)|Mivacurium(DB01226)|Neostigmine(DB01400)|Nizatidine(DB00585)|Oxybuprocaine(DB00892)|Pancuronium(DB01337)|Pegvisomant(DB00082)|Pentagastrin(DB00183)|Perindopril(DB00790)|Pipecuronium(DB01338)|Pralidoxime(DB00733)|Procainamide(DB01035)|Procaine(DB00721)|Pyridostigmine(DB00545)|Ramipril(DB00178)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Sulpiride(DB00391)|Terbutaline(DB00871)|Triamcinolone(DB00620)|Triflupromazine(DB00508)|Trimethaphan(DB01116)	GTGAGAAAATCACCATCCACG	0.383																																						ENST00000264381.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55						c.(973-975)Gat>Tat		butyrylcholinesterase	Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)						36.0	38.0	38.0					3																	165547849		2202	4298	6500	SO:0001583	missense	590				choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding	g.chr3:165547849C>A	M16541	CCDS3198.1	3q26.1-q26.2	2013-07-10			ENSG00000114200	ENSG00000114200	3.1.1.8		983	protein-coding gene	gene with protein product		177400	"""cholinesterase 1"", ""cholinesterase (serum) 2"""	CHE1, CHE2		1769657, 2318303	Standard	NM_000055		Approved	E1	uc003fem.4	P06276	OTTHUMG00000158131	ENST00000264381.3:c.973G>T	3.37:g.165547849C>A	ENSP00000264381:p.Asp325Tyr					BCHE_ENST00000540653.1_Intron	p.D325Y	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN			2	1139	-			325					A8K7P8	Missense_Mutation	SNP	ENST00000264381.3	37	c.973G>T	CCDS3198.1	.	.	.	.	.	.	.	.	.	.	C	12.59	1.983811	0.35036	.	.	ENSG00000114200	ENST00000264381	D	0.96554	-4.05	5.42	5.42	0.78866	Carboxylesterase, type B (1);	0.047628	0.85682	D	0.000000	D	0.96592	0.8888	L	0.48362	1.52	0.80722	D	1	P	0.41498	0.752	P	0.53313	0.723	D	0.96480	0.9355	10	0.49607	T	0.09	.	18.1948	0.89818	0.0:1.0:0.0:0.0	.	325	P06276	CHLE_HUMAN	Y	325	ENSP00000264381:D325Y	ENSP00000264381:D325Y	D	-	1	0	BCHE	167030543	1.000000	0.71417	0.980000	0.43619	0.587000	0.36485	5.336000	0.65935	2.546000	0.85860	0.655000	0.94253	GAT		0.383	BCHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350254.1			60	2	1	0	1.54043e-34	1	1.96281e-34	60	2				
FOXD4	2298	broad.mit.edu	37	9	117618	117618	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr9:117618C>T	ENST00000382500.2	-	1	799	c.502G>A	c.(502-504)Gag>Aag	p.E168K		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	168					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		CGGCCCGGCTCGCGGGGGATC	0.632																																						ENST00000382500.2																			0				endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14						c.(502-504)Gag>Aag		forkhead box D4							117.0	161.0	146.0					9																	117618		2196	4295	6491	SO:0001583	missense	2298				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr9:117618C>T	U13223	CCDS34975.1	9p24.3	2014-09-17			ENSG00000170122	ENSG00000170122		"""Forkhead boxes"""	3805	protein-coding gene	gene with protein product		601092		FKHL9		7957066, 8825632, 12234674	Standard	NM_207305		Approved	FREAC5, FOXD4a	uc003zfz.4	Q12950	OTTHUMG00000021015	ENST00000382500.2:c.502G>A	9.37:g.117618C>T	ENSP00000371940:p.Glu168Lys						p.E168K	NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)	1	799	-	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	168					B2RN05|B9EGL7|Q5VVK1|Q8WXT6	Missense_Mutation	SNP	ENST00000382500.2	37	c.502G>A	CCDS34975.1	.	.	.	.	.	.	.	.	.	.	.	21.1	4.092967	0.76756	.	.	ENSG00000170122	ENST00000382500	D	0.95412	-3.7	2.24	2.24	0.28232	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.000000	0.37577	U	0.002028	D	0.96549	0.8874	M	0.67397	2.05	0.52501	D	0.99995	D	0.76494	0.999	D	0.70716	0.97	D	0.96209	0.9151	10	0.72032	D	0.01	.	11.6185	0.51104	0.0:1.0:0.0:0.0	.	168	Q12950	FOXD4_HUMAN	K	168	ENSP00000371940:E168K	ENSP00000371940:E168K	E	-	1	0	FOXD4	107618	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.399000	0.59703	1.253000	0.44018	0.291000	0.19559	GAG		0.632	FOXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055433.1	NM_207305		7	405	0	0	0	1	0	7	405				
ASGR2	433	broad.mit.edu	37	17	7011223	7011223	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr17:7011223C>T	ENST00000380952.2	-	5	620	c.356G>A	c.(355-357)gGc>gAc	p.G119D	ASGR2_ENST00000355035.5_Missense_Mutation_p.G119D|ASGR2_ENST00000254850.7_Missense_Mutation_p.G95D|ASGR2_ENST00000446679.2_Missense_Mutation_p.G100D	NM_001181.4|NM_001201352.1|NM_080912.3	NP_001172|NP_001188281.1|NP_550434	P07307	ASGR2_HUMAN	asialoglycoprotein receptor 2	119					bone mineralization (GO:0030282)|cell surface receptor signaling pathway (GO:0007166)|glycoprotein metabolic process (GO:0009100)|lipid homeostasis (GO:0055088)|receptor-mediated endocytosis (GO:0006898)|regulation of protein stability (GO:0031647)	integral component of membrane (GO:0016021)	asialoglycoprotein receptor activity (GO:0004873)|carbohydrate binding (GO:0030246)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|skin(3)|stomach(4)	18					Antihemophilic Factor(DB00025)	ACCCACGCTGCCTCCTGGAAG	0.647																																						ENST00000380952.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|skin(3)|stomach(4)	18						c.(355-357)gGc>gAc		asialoglycoprotein receptor 2	Antihemophilic Factor(DB00025)						201.0	135.0	157.0					17																	7011223		2203	4300	6503	SO:0001583	missense	433				cell surface receptor linked signaling pathway|endocytosis	focal adhesion|integral to membrane|nucleolus	asialoglycoprotein receptor activity|protein binding|sugar binding	g.chr17:7011223C>T	M11025	CCDS11088.1, CCDS32544.1, CCDS45598.1	17p	2011-08-30			ENSG00000161944	ENSG00000161944		"""C-type lectin domain containing"""	743	protein-coding gene	gene with protein product		108361				3863106	Standard	NM_080912		Approved	CLEC4H2	uc002ger.3	P07307	OTTHUMG00000102158	ENST00000380952.2:c.356G>A	17.37:g.7011223C>T	ENSP00000370339:p.Gly119Asp					ASGR2_ENST00000446679.2_Missense_Mutation_p.G100D|ASGR2_ENST00000254850.7_Missense_Mutation_p.G95D|ASGR2_ENST00000355035.5_Missense_Mutation_p.G119D	p.G119D	NM_001181.4|NM_001201352.1|NM_080912.3	NP_001172.1|NP_001188281.1|NP_550434.1	P07307	ASGR2_HUMAN			5	620	-			119					A6NLV8|A8MT12|D3DTM9|D3DTN0|O00448|Q03969	Missense_Mutation	SNP	ENST00000380952.2	37	c.356G>A	CCDS32544.1	.	.	.	.	.	.	.	.	.	.	C	8.066	0.769235	0.15983	.	.	ENSG00000161944	ENST00000355035;ENST00000254850;ENST00000380952;ENST00000446679;ENST00000450034	T;T;T;T	0.19394	2.15;2.15;2.15;2.15	3.46	1.29	0.21616	Hepatic lectin, N-terminal (1);	0.329742	0.22019	N	0.065750	T	0.14743	0.0356	L	0.35487	1.065	0.24829	N	0.992531	P;B;B;B;B;B	0.46784	0.884;0.412;0.055;0.02;0.044;0.055	P;B;B;B;B;B	0.45794	0.493;0.148;0.05;0.029;0.045;0.075	T	0.10405	-1.0631	10	0.25106	T	0.35	.	4.2956	0.10899	0.2451:0.6304:0.0:0.1245	.	95;95;119;114;100;119	B4E1D2;P07307-3;P07307;Q7Z4G9;P07307-2;D3DTN0	.;.;ASGR2_HUMAN;.;.;.	D	119;95;119;100;95	ENSP00000347140:G119D;ENSP00000254850:G95D;ENSP00000370339:G119D;ENSP00000405844:G100D	ENSP00000254850:G95D	G	-	2	0	ASGR2	6951947	0.002000	0.14202	0.572000	0.28498	0.108000	0.19459	0.328000	0.19681	0.386000	0.24997	0.609000	0.83330	GGC		0.647	ASGR2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000220003.1	NM_080914		27	1	0	0	0	1	0	27	1				
OR2W3	343171	broad.mit.edu	37	1	248059114	248059114	+	Missense_Mutation	SNP	A	A	G			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr1:248059114A>G	ENST00000360358.3	+	1	226	c.226A>G	c.(226-228)Agc>Ggc	p.S76G	OR2W3_ENST00000537741.1_Missense_Mutation_p.S76G	NM_001001957.2	NP_001001957.2	Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	76						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TTTCACCACCAGCTCCATCCC	0.582																																						ENST00000537741.1																			0				breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49						c.(226-228)Agc>Ggc		olfactory receptor, family 2, subfamily W, member 3							186.0	146.0	159.0					1																	248059114		2203	4300	6503	SO:0001583	missense	343171				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248059114A>G	N75737	CCDS31099.1	1q44	2012-08-09		2004-03-10	ENSG00000238243	ENSG00000238243		"""GPCR / Class A : Olfactory receptors"""	15021	protein-coding gene	gene with protein product				OR2W8P, OR2W3P		14983052	Standard	NM_001001957		Approved	OST718	uc010pzb.2	Q7Z3T1	OTTHUMG00000040204	ENST00000360358.3:c.226A>G	1.37:g.248059114A>G	ENSP00000353516:p.Ser76Gly					OR2W3_ENST00000360358.3_Missense_Mutation_p.S76G	p.S76G			Q7Z3T1	OR2W3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		3	483	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		76					Q6IF06|Q8NG86	Missense_Mutation	SNP	ENST00000360358.3	37	c.226A>G	CCDS31099.1	.	.	.	.	.	.	.	.	.	.	A	13.42	2.232038	0.39399	.	.	ENSG00000238243	ENST00000537741;ENST00000360358	T;T	0.00816	5.66;5.66	5.29	4.14	0.48551	GPCR, rhodopsin-like superfamily (1);	0.157981	0.45361	D	0.000372	T	0.02727	0.0082	M	0.93062	3.375	0.23559	N	0.99742	B	0.19935	0.04	B	0.23574	0.047	T	0.12837	-1.0532	10	0.59425	D	0.04	.	9.3874	0.38352	0.8587:0.0:0.1413:0.0	.	76	Q7Z3T1	OR2W3_HUMAN	G	76	ENSP00000445853:S76G;ENSP00000353516:S76G	ENSP00000353516:S76G	S	+	1	0	OR2W3	246125737	0.001000	0.12720	1.000000	0.80357	0.996000	0.88848	1.504000	0.35726	2.227000	0.72691	0.496000	0.49642	AGC		0.582	OR2W3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096861.1	NM_001001957		9	213	0	0	0	1	0	9	213				
RP11-146E13.4	0	broad.mit.edu	37	14	19857036	19857036	+	lincRNA	SNP	A	A	G	rs374719458		TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr14:19857036A>G	ENST00000548109.1	+	0	72																											CTGGATAATAAAGTTCATCTC	0.373																																						ENST00000548109.1																			0																																																			0							g.chr14:19857036A>G																													14.37:g.19857036A>G														0	72	+									RNA	SNP	ENST00000548109.1	37																																																																																						0.373	RP11-146E13.4-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000409408.1			7	64	0	0	0	1	0	7	64				
NDNF	79625	broad.mit.edu	37	4	121958225	121958225	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr4:121958225C>T	ENST00000379692.4	-	4	1427	c.901G>A	c.(901-903)Gtc>Atc	p.V301I	NDNF_ENST00000506900.1_5'Flank	NM_024574.3	NP_078850.3	Q8TB73	NDNF_HUMAN	neuron-derived neurotrophic factor	301	Fibronectin type-III 1.				cell growth (GO:0016049)|extracellular matrix organization (GO:0030198)|negative regulation of neuron apoptotic process (GO:0043524)|neuron migration (GO:0001764)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of neuron projection development (GO:0010976)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						AGATCAGAGACGGTGAAGATG	0.463																																						ENST00000379692.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						c.(901-903)Gtc>Atc		neuron-derived neurotrophic factor							139.0	129.0	132.0					4																	121958225		2203	4300	6503	SO:0001583	missense	79625							g.chr4:121958225C>T	BC019351	CCDS3717.2	4q27	2011-07-05	2011-07-05	2011-07-05	ENSG00000173376	ENSG00000173376			26256	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 31"""	C4orf31		12975309, 20969804	Standard	NM_024574		Approved	FLJ23191	uc003idq.1	Q8TB73	OTTHUMG00000132973	ENST00000379692.4:c.901G>A	4.37:g.121958225C>T	ENSP00000369014:p.Val301Ile						p.V301I	NM_024574.3	NP_078850.3	Q8TB73	CD031_HUMAN			4	1427	-			301			Fibronectin type-III 1.		A8K0Q0|Q6UWE5|Q9H5P7	Missense_Mutation	SNP	ENST00000379692.4	37	c.901G>A	CCDS3717.2	.	.	.	.	.	.	.	.	.	.	C	12.42	1.932812	0.34096	.	.	ENSG00000173376	ENST00000379692	T	0.52983	0.64	5.88	4.16	0.48862	.	0.163222	0.53938	N	0.000041	T	0.37461	0.1004	L	0.36672	1.1	0.58432	D	0.999994	B	0.11235	0.004	B	0.08055	0.003	T	0.10314	-1.0635	10	0.35671	T	0.21	-18.9792	12.1868	0.54243	0.0:0.8632:0.0:0.1368	.	301	Q8TB73	NDNF_HUMAN	I	301	ENSP00000369014:V301I	ENSP00000369014:V301I	V	-	1	0	NDNF	122177675	0.981000	0.34729	0.821000	0.32701	0.991000	0.79684	2.575000	0.46025	0.822000	0.34565	0.655000	0.94253	GTC		0.463	NDNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256532.2	NM_024574		18	18	0	0	0	1	0	18	18				
SIK1	150094	broad.mit.edu	37	21	44840174	44840174	+	Silent	SNP	G	G	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr21:44840174G>A	ENST00000270162.6	-	8	1044	c.912C>T	c.(910-912)taC>taT	p.Y304Y		NM_173354.3	NP_775490.2	P57059	SIK1_HUMAN	salt-inducible kinase 1	304	UBA. {ECO:0000255|PROSITE- ProRule:PRU00212}.				cardiac muscle cell differentiation (GO:0055007)|cell cycle (GO:0007049)|entrainment of circadian clock by photoperiod (GO:0043153)|intracellular signal transduction (GO:0035556)|negative regulation of CREB transcription factor activity (GO:0032792)|negative regulation of gluconeogenesis (GO:0045721)|negative regulation of triglyceride biosynthetic process (GO:0010868)|positive regulation of anoikis (GO:2000210)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell differentiation (GO:0045595)|regulation of mitotic cell cycle (GO:0007346)|regulation of myotube differentiation (GO:0010830)|regulation of sodium ion transport (GO:0002028)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|cAMP response element binding protein binding (GO:0008140)|magnesium ion binding (GO:0000287)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21					Dabrafenib(DB08912)	CCTGCTCATCGTAGTCGCCCA	0.692																																						ENST00000270162.6																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21						c.(910-912)taC>taT		salt-inducible kinase 1							50.0	48.0	49.0					21																	44840174		2203	4300	6503	SO:0001819	synonymous_variant	150094				anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr21:44840174G>A	BC038504	CCDS33575.1	21q22.3	2008-12-23	2008-12-23	2008-12-23	ENSG00000142178	ENSG00000142178			11142	protein-coding gene	gene with protein product	"""myocardial SNF1-like kinase"""	605705	"""SNF1-like kinase"""	SNF1LK		7893599	Standard	NM_173354		Approved	msk	uc002zdf.2	P57059	OTTHUMG00000086874	ENST00000270162.6:c.912C>T	21.37:g.44840174G>A							p.Y304Y	NM_173354.3	NP_775490.2	P57059	SIK1_HUMAN			8	1044	-			304			UBA.		A6NC84|Q5R2V5|Q6ZNL8|Q86YJ2	Silent	SNP	ENST00000270162.6	37	c.912C>T	CCDS33575.1																																																																																				0.692	SIK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195654.1	NM_173354		42	32	0	0	0	1	0	42	32				
PKDREJ	10343	broad.mit.edu	37	22	46657752	46657752	+	Missense_Mutation	SNP	A	A	C			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr22:46657752A>C	ENST00000253255.5	-	1	1467	c.1468T>G	c.(1468-1470)Ttc>Gtc	p.F490V		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	490	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		CATTTATAGAAATCACGGCTT	0.368																																						ENST00000253255.5																			0				NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73						c.(1468-1470)Ttc>Gtc		polycystin (PKD) family receptor for egg jelly							124.0	141.0	135.0					22																	46657752		2203	4300	6503	SO:0001583	missense	10343				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity	g.chr22:46657752A>C	AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like"", ""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like"", ""polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"""			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.1468T>G	22.37:g.46657752A>C	ENSP00000253255:p.Phe490Val						p.F490V	NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)	1	1467	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	490			REJ.		B1AJY3|O95850	Missense_Mutation	SNP	ENST00000253255.5	37	c.1468T>G	CCDS14073.1	.	.	.	.	.	.	.	.	.	.	A	4.790	0.146861	0.09134	.	.	ENSG00000130943	ENST00000253255	T	0.70164	-0.46	5.18	-10.4	0.00318	Egg jelly receptor, REJ-like (1);PKD/REJ-like protein (1);	2.787020	0.00998	N	0.003626	T	0.36744	0.0978	N	0.02315	-0.6	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.30504	-0.9976	10	0.16896	T	0.51	-1.0969	13.5294	0.61613	0.1224:0.7411:0.0625:0.074	.	490	Q9NTG1	PKDRE_HUMAN	V	490	ENSP00000253255:F490V	ENSP00000253255:F490V	F	-	1	0	PKDREJ	45036416	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-3.154000	0.00580	-1.912000	0.01081	-0.291000	0.09656	TTC		0.368	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		51	57	0	0	0	1	0	51	57				
SMCP	4184	broad.mit.edu	37	1	152857173	152857173	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr1:152857173C>G	ENST00000368765.3	+	2	425	c.275C>G	c.(274-276)cCg>cGg	p.P92R		NM_030663.2	NP_109588.2	P49901	MCSP_HUMAN	sperm mitochondria-associated cysteine-rich protein	92					penetration of zona pellucida (GO:0007341)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)		p.P92L(1)		breast(1)|cervix(1)|endometrium(1)|lung(4)|urinary_tract(1)	8	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCCAACTCACCGCAAACTCAG	0.532																																						ENST00000368765.3																			1	Substitution - Missense(1)	p.P92L(1)	endometrium(1)	breast(1)|cervix(1)|endometrium(1)|lung(4)|urinary_tract(1)	8						c.(274-276)cCg>cGg		sperm mitochondria-associated cysteine-rich protein							121.0	111.0	115.0					1																	152857173		2203	4300	6503	SO:0001583	missense	4184				penetration of zona pellucida|sperm motility	mitochondrial membrane		g.chr1:152857173C>G	BC014593	CCDS1029.1	1q21.3	2009-03-19	2005-10-06	2005-10-06	ENSG00000163206	ENSG00000163206			6962	protein-coding gene	gene with protein product		601148	"""mitochondrial capsule selenoprotein"""	MCSP		8833144	Standard	NM_030663		Approved		uc001fat.3	P49901	OTTHUMG00000012452	ENST00000368765.3:c.275C>G	1.37:g.152857173C>G	ENSP00000357754:p.Pro92Arg						p.P92R	NM_030663.2	NP_109588.2	P49901	MCSP_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	425	+	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		92					Q96A42	Missense_Mutation	SNP	ENST00000368765.3	37	c.275C>G	CCDS1029.1	.	.	.	.	.	.	.	.	.	.	C	8.807	0.934257	0.18206	.	.	ENSG00000163206	ENST00000368765	.	.	.	3.84	0.959	0.19624	.	1.658870	0.04006	N	0.297273	T	0.35278	0.0926	L	0.46157	1.445	0.09310	N	1	D	0.59357	0.985	P	0.60012	0.867	T	0.14727	-1.0462	9	0.87932	D	0	2.998	5.7737	0.18267	0.0:0.6564:0.0:0.3436	.	92	P49901	MCSP_HUMAN	R	92	.	ENSP00000357754:P92R	P	+	2	0	SMCP	151123797	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.001000	0.12947	0.229000	0.21039	0.655000	0.94253	CCG		0.532	SMCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034665.1	NM_030663		7	195	0	0	0	1	0	7	195				
EIF4B	1975	broad.mit.edu	37	12	53433961	53433961	+	Missense_Mutation	SNP	C	C	G	rs577019588		TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr12:53433961C>G	ENST00000262056.9	+	15	2116	c.1790C>G	c.(1789-1791)tCt>tGt	p.S597C	RP11-983P16.4_ENST00000546566.1_RNA|EIF4B_ENST00000416762.3_Missense_Mutation_p.S558C|EIF4B_ENST00000420463.3_Missense_Mutation_p.S602C|RP11-983P16.4_ENST00000552905.1_RNA|RP11-983P16.4_ENST00000546767.1_RNA|RP11-983P16.4_ENST00000607643.1_RNA|RP11-983P16.4_ENST00000550601.1_RNA	NM_001417.4	NP_001408.2	P23588	IF4B_HUMAN	eukaryotic translation initiation factor 4B	597					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation initiation factor activity (GO:0003743)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						GCTGCTCTCTCTGTTGATGGT	0.438																																						ENST00000262056.9																			0				breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(1789-1791)tCt>tGt		eukaryotic translation initiation factor 4B							115.0	108.0	110.0					12																	53433961		1904	4115	6019	SO:0001583	missense	1975				insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	nucleotide binding|translation initiation factor activity	g.chr12:53433961C>G	X55733	CCDS41788.1, CCDS73474.1	12q13.13	2013-02-12			ENSG00000063046	ENSG00000063046		"""RNA binding motif (RRM) containing"""	3285	protein-coding gene	gene with protein product		603928					Standard	XM_005268709		Approved		uc001sbh.4	P23588	OTTHUMG00000169570	ENST00000262056.9:c.1790C>G	12.37:g.53433961C>G	ENSP00000262056:p.Ser597Cys					RP11-983P16.4_ENST00000552905.1_RNA|EIF4B_ENST00000416762.3_Missense_Mutation_p.S558C|EIF4B_ENST00000420463.3_Missense_Mutation_p.S602C|RP11-983P16.4_ENST00000550601.1_RNA|RP11-983P16.4_ENST00000546566.1_RNA	p.S597C	NM_001417.4	NP_001408.2	P23588	IF4B_HUMAN			15	2116	+			597					Q4G0E3|Q53HQ2|Q6GPH5|Q6IB46|Q8WYK5	Missense_Mutation	SNP	ENST00000262056.9	37	c.1790C>G	CCDS41788.1	.	.	.	.	.	.	.	.	.	.	C	10.66	1.413349	0.25465	.	.	ENSG00000063046	ENST00000262056;ENST00000420463;ENST00000430205;ENST00000416762	T;T	0.52983	0.64;0.64	4.26	3.35	0.38373	.	0.259489	0.33364	N	0.004981	T	0.38852	0.1056	L	0.43152	1.355	0.20563	N	0.999889	B;B;B;B	0.25169	0.119;0.073;0.0;0.073	B;B;B;B	0.21151	0.033;0.015;0.0;0.015	T	0.35624	-0.9781	10	0.48119	T	0.1	.	12.2662	0.54679	0.0:0.8269:0.173:0.0	.	558;602;573;597	B4DS13;E7EX17;E7EPC9;P23588	.;.;.;IF4B_HUMAN	C	597;602;573;558	ENSP00000262056:S597C;ENSP00000388806:S602C	ENSP00000262056:S597C	S	+	2	0	EIF4B	51720228	0.995000	0.38212	0.748000	0.31131	0.976000	0.68499	2.978000	0.49305	1.341000	0.45600	0.484000	0.47621	TCT		0.438	EIF4B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404852.2	NM_001417		24	65	0	0	0	1	0	24	65				
POLR1A	25885	broad.mit.edu	37	2	86274381	86274381	+	Nonsense_Mutation	SNP	G	G	T			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr2:86274381G>T	ENST00000263857.6	-	19	3018	c.2640C>A	c.(2638-2640)tgC>tgA	p.C880*	POLR1A_ENST00000409681.1_Nonsense_Mutation_p.C880*			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	880					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						CAAAAGGCATGCATGCCTGCA	0.478																																						ENST00000263857.6																			0				NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						c.(2638-2640)tgC>tgA		polymerase (RNA) I polypeptide A, 194kDa							86.0	83.0	84.0					2																	86274381		1983	4165	6148	SO:0001587	stop_gained	25885				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding	g.chr2:86274381G>T	AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"""RNA polymerase subunits"""	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.2640C>A	2.37:g.86274381G>T	ENSP00000263857:p.Cys880*					POLR1A_ENST00000409681.1_Nonsense_Mutation_p.C880*	p.C880*			O95602	RPA1_HUMAN			19	3018	-			880					B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Nonsense_Mutation	SNP	ENST00000263857.6	37	c.2640C>A	CCDS42706.1	.	.	.	.	.	.	.	.	.	.	G	43	10.005116	0.99315	.	.	ENSG00000068654	ENST00000263857;ENST00000409681	.	.	.	5.54	1.71	0.24356	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-22.531	9.6738	0.40028	0.281:0.0:0.719:0.0	.	.	.	.	X	880	.	ENSP00000263857:C880X	C	-	3	2	POLR1A	86127892	1.000000	0.71417	0.995000	0.50966	0.926000	0.56050	1.416000	0.34759	0.033000	0.15463	-0.136000	0.14681	TGC		0.478	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329830.2	NM_015425		6	37	1	0	3.59834e-05	1	3.94817e-05	6	37				
FBXW7	55294	broad.mit.edu	37	4	153250906	153250906	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr4:153250906G>A	ENST00000281708.4	-	8	2383	c.1154C>T	c.(1153-1155)aCa>aTa	p.T385I	FBXW7_ENST00000603841.1_Missense_Mutation_p.T385I|FBXW7_ENST00000296555.5_Missense_Mutation_p.T267I|FBXW7_ENST00000393956.3_Missense_Mutation_p.T209I|FBXW7_ENST00000263981.5_Missense_Mutation_p.T305I|FBXW7_ENST00000603548.1_Missense_Mutation_p.T385I	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	385					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				CTGTAAGCATGTGATCACATG	0.343			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																	ENST00000281708.4				Rec	yes		4	4q31.3	55294	"""Mis, N, D, F"""	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""			"""E, L"""			"""colorectal, endometrial, T-ALL"""		1	Unknown(1)	p.?(1)	haematopoietic_and_lymphoid_tissue(1)	NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462						c.(1153-1155)aCa>aTa		F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase							120.0	108.0	112.0					4																	153250906		2203	4300	6503	SO:0001583	missense	0				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	g.chr4:153250906G>A	AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1154C>T	4.37:g.153250906G>A	ENSP00000281708:p.Thr385Ile					FBXW7_ENST00000603841.1_Missense_Mutation_p.T385I|FBXW7_ENST00000263981.5_Missense_Mutation_p.T305I|FBXW7_ENST00000296555.5_Missense_Mutation_p.T267I|FBXW7_ENST00000393956.3_Missense_Mutation_p.T209I|FBXW7_ENST00000603548.1_Missense_Mutation_p.T385I	p.T385I	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN			8	2383	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	385					B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	37	c.1154C>T	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.702173	0.88924	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03	5.99	5.99	0.97316	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	T	0.79776	0.4504	M	0.65498	2.005	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.79685	-0.1700	10	0.87932	D	0	-15.0332	20.5373	0.99239	0.0:0.0:1.0:0.0	.	209;385;267;305	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	I	385;267;305;209	ENSP00000281708:T385I;ENSP00000296555:T267I;ENSP00000263981:T305I;ENSP00000377528:T209I	ENSP00000263981:T305I	T	-	2	0	FBXW7	153470356	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.865000	0.99609	2.857000	0.98124	0.650000	0.86243	ACA		0.343	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			24	17	0	0	0	1	0	24	17				
MT-ND2	4536	broad.mit.edu	37	M	1955	1955	+	5'Flank	SNP	G	G	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chrM:1955G>A	ENST00000361453.3	+	0	0				MT-ND1_ENST00000361390.2_5'Flank|MT-TI_ENST00000387365.1_RNA|MT-RNR2_ENST00000387347.2_RNA|MT-TF_ENST00000387314.1_RNA|MT-RNR1_ENST00000389680.2_RNA|MT-TV_ENST00000387342.1_RNA|MT-TQ_ENST00000387372.1_RNA|MT-TL1_ENST00000386347.1_RNA|MT-TM_ENST00000387377.1_RNA			P03891	NU2M_HUMAN	mitochondrially encoded NADH dehydrogenase 2						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(2)|lung(1)	3						ACACCCGTCTATGTAGCAAAA	0.413																																						ENST00000387347.2																			0																																																	SO:0001631	upstream_gene_variant	0							g.chrM:1955G>A			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198763	ENSG00000198763	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7456	protein-coding gene	gene with protein product	"""complex I ND2 subunit"", ""NADH-ubiquinone oxidoreductase chain 2"""	516001	"""NADH dehydrogenase 2"""	MTND2			Standard			Approved	ND2, NAD2		P03891			M.37:g.1955G>A	Exception_encountered							NR_039705.1						0	285	+								Q34769|Q9TGI0|Q9TGI1|Q9TGI2|Q9TGI3|Q9TGI4	RNA	SNP	ENST00000361453.3	37																																																																																						0.413	MT-ND2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024027		89	0	0	0	0	1	0	89	0				
MYH1	4619	broad.mit.edu	37	17	10404746	10404746	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr17:10404746C>T	ENST00000226207.5	-	27	3513	c.3419G>A	c.(3418-3420)cGc>cAc	p.R1140H	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1140					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.R1140H(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GAGATCAGAGCGCTGCTTCTC	0.587																																						ENST00000226207.5																			1	Substitution - Missense(1)	p.R1140H(1)	prostate(1)	NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						c.(3418-3420)cGc>cAc		myosin, heavy chain 1, skeletal muscle, adult							52.0	58.0	56.0					17																	10404746		2203	4299	6502	SO:0001583	missense	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10404746C>T		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.3419G>A	17.37:g.10404746C>T	ENSP00000226207:p.Arg1140His					CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	p.R1140H	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN			27	3513	-			1140					Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	c.3419G>A	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.587971	0.86851	.	.	ENSG00000109061	ENST00000226207	D	0.82711	-1.64	5.3	5.3	0.74995	Myosin tail (1);	0.000000	0.41294	U	0.000907	D	0.92596	0.7648	H	0.97587	4.035	0.58432	D	0.999999	D	0.60160	0.987	P	0.51297	0.665	D	0.95107	0.8235	10	0.87932	D	0	.	19.3291	0.94278	0.0:1.0:0.0:0.0	.	1140	P12882	MYH1_HUMAN	H	1140	ENSP00000226207:R1140H	ENSP00000226207:R1140H	R	-	2	0	MYH1	10345471	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.756000	0.85195	2.641000	0.89580	0.650000	0.86243	CGC		0.587	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		52	9	0	0	0	1	0	52	9				
EPAS1	2034	broad.mit.edu	37	2	46602865	46602865	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr2:46602865G>A	ENST00000263734.3	+	8	1433	c.923G>A	c.(922-924)cGg>cAg	p.R308Q		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	308	PAC.				angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|erythrocyte differentiation (GO:0030218)|lung development (GO:0030324)|mitochondrion organization (GO:0007005)|myoblast fate commitment (GO:0048625)|norepinephrine metabolic process (GO:0042415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart rate (GO:0002027)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|surfactant homeostasis (GO:0043129)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			GGCCAGTACCGGATGCTCGCA	0.602																																						ENST00000263734.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(922-924)cGg>cAg		endothelial PAS domain protein 1							118.0	84.0	96.0					2																	46602865		2203	4300	6503	SO:0001583	missense	2034				angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding	g.chr2:46602865G>A	U81984	CCDS1825.1	2p21-p16	2013-05-21			ENSG00000116016	ENSG00000116016		"""Basic helix-loop-helix proteins"""	3374	protein-coding gene	gene with protein product	"""HIF-1 alpha-like factor"""	603349				9000051, 9079689, 18378852	Standard	NM_001430		Approved	MOP2, PASD2, HIF2A, HLF, bHLHe73	uc002ruv.3	Q99814	OTTHUMG00000128818	ENST00000263734.3:c.923G>A	2.37:g.46602865G>A	ENSP00000263734:p.Arg308Gln						p.R308Q	NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.151)		8	1433	+		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	308			PAC.		Q86VA2|Q99630	Missense_Mutation	SNP	ENST00000263734.3	37	c.923G>A	CCDS1825.1	.	.	.	.	.	.	.	.	.	.	G	36	5.844425	0.97016	.	.	ENSG00000116016	ENST00000263734	T	0.42513	0.97	5.31	5.31	0.75309	PAS fold-3 (1);PAS (1);	0.000000	0.85682	D	0.000000	T	0.75568	0.3867	H	0.94808	3.585	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.83269	-0.0044	10	0.87932	D	0	.	18.9681	0.92704	0.0:0.0:1.0:0.0	.	308	Q99814	EPAS1_HUMAN	Q	308	ENSP00000263734:R308Q	ENSP00000263734:R308Q	R	+	2	0	EPAS1	46456369	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.864000	0.99589	2.494000	0.84150	0.655000	0.94253	CGG		0.602	EPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250752.2	NM_001430		18	39	0	0	0	1	0	18	39				
NBEAL2	23218	broad.mit.edu	37	3	47035510	47035510	+	Splice_Site	SNP	G	G	C			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr3:47035510G>C	ENST00000450053.3	+	11	1376	c.1197G>C	c.(1195-1197)aaG>aaC	p.K399N	NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Splice_Site_p.K399N	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	399					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		CCTCGGCCAAGGTGAGGCTGC	0.602																																						ENST00000450053.3																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.e11+1		neurobeachin-like 2							33.0	33.0	33.0					3																	47035510		2061	4198	6259	SO:0001630	splice_region_variant	23218						binding	g.chr3:47035510G>C	AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"""WD repeat domain containing"""	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.1197+1G>C	3.37:g.47035510G>C						NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Splice_Site_p.K399_splice	p.K399_splice	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)	11	1376	+		Acute lymphoblastic leukemia(5;0.0534)	399					O60288|Q6P994|Q6UX91|Q8NAC9	Splice_Site	SNP	ENST00000450053.3	37	c.1197_splice	CCDS46817.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.342469	0.81911	.	.	ENSG00000160796	ENST00000292309;ENST00000450053;ENST00000296147	T;T	0.61980	0.06;0.06	5.88	5.88	0.94601	Armadillo-like helical (1);Armadillo-type fold (1);	.	.	.	.	T	0.79845	0.4516	M	0.71036	2.16	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.80564	-0.1326	9	0.87932	D	0	.	19.2088	0.93746	0.0:0.0:1.0:0.0	.	365;399	Q6ZNJ1-4;Q6ZNJ1	.;NBEL2_HUMAN	N	399;399;365	ENSP00000292309:K399N;ENSP00000415034:K399N	ENSP00000292309:K399N	K	+	3	2	NBEAL2	47010514	1.000000	0.71417	1.000000	0.80357	0.392000	0.30506	7.285000	0.78660	2.790000	0.95986	0.591000	0.81541	AAG		0.602	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344363.3	XM_291064	Missense_Mutation	3	16	0	0	0	1	0	3	16				
PPARGC1A	10891	broad.mit.edu	37	4	23886369	23886369	+	Intron	SNP	C	C	G			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr4:23886369C>G	ENST00000264867.2	-	2	354				PPARGC1A_ENST00000507380.1_Missense_Mutation_p.R80S|PPARGC1A_ENST00000509702.1_5'Flank	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha						androgen metabolic process (GO:0008209)|androgen receptor signaling pathway (GO:0030521)|brown fat cell differentiation (GO:0050873)|cellular glucose homeostasis (GO:0001678)|cellular respiration (GO:0045333)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|cellular response to nitrite (GO:0071250)|cellular response to oxidative stress (GO:0034599)|cellular response to thyroid hormone stimulus (GO:0097067)|cellular response to tumor necrosis factor (GO:0071356)|circadian regulation of gene expression (GO:0032922)|digestion (GO:0007586)|fatty acid oxidation (GO:0019395)|flavone metabolic process (GO:0051552)|galactose metabolic process (GO:0006012)|gluconeogenesis (GO:0006094)|mitochondrion organization (GO:0007005)|mRNA processing (GO:0006397)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of receptor activity (GO:2000272)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of cellular respiration (GO:1901857)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of histone acetylation (GO:0035066)|positive regulation of mitochondrial DNA metabolic process (GO:1901860)|positive regulation of mitochondrion organization (GO:0010822)|positive regulation of muscle tissue development (GO:1901863)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|regulation of circadian rhythm (GO:0042752)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|response to cold (GO:0009409)|response to epinephrine (GO:0071871)|response to leucine (GO:0043201)|response to muscle activity (GO:0014850)|response to norepinephrine (GO:0071873)|response to starvation (GO:0042594)|response to statin (GO:0036273)|RNA splicing (GO:0008380)|temperature homeostasis (GO:0001659)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytosol (GO:0005829)|DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				CAAAGGATGTCCTTACCTCAA	0.388																																					Esophageal Squamous(29;694 744 13796 34866 44181)	ENST00000507380.1																			0				central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51						c.(238-240)agG>agC		peroxisome proliferator-activated receptor gamma, coactivator 1 alpha							107.0	100.0	102.0					4																	23886369		2203	4300	6503	SO:0001627	intron_variant	10891				androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding	g.chr4:23886369C>G	AF106698	CCDS3429.1	4p15.1	2013-02-12	2006-10-17	2004-02-04	ENSG00000109819	ENSG00000109819		"""RNA binding motif (RRM) containing"""	9237	protein-coding gene	gene with protein product		604517	"""peroxisome proliferative activated receptor, gamma, coactivator 1"", ""peroxisome proliferative activated receptor, gamma, coactivator 1, alpha"""	PPARGC1		10585775	Standard	NM_013261		Approved	PGC1, PGC1A	uc003gqs.3	Q9UBK2	OTTHUMG00000097747	ENST00000264867.2:c.234+5G>C	4.37:g.23886369C>G						PPARGC1A_ENST00000264867.2_Intron	p.R80S			Q9UBK2	PRGC1_HUMAN			2	317	-		Breast(46;0.0503)	0					B7Z406|G8DM16|I3RTT5|I3RTT6|I3RTT7|I3RTT8|I3RTT9|Q3LIG1|Q4W5M7|Q9UN32	Missense_Mutation	SNP	ENST00000264867.2	37	c.240G>C	CCDS3429.1	.	.	.	.	.	.	.	.	.	.	C	11.91	1.778296	0.31502	.	.	ENSG00000109819	ENST00000507380	.	.	.	5.95	2.2	0.27929	.	.	.	.	.	T	0.23611	0.0571	.	.	.	0.09310	N	1	B	0.12013	0.005	B	0.12156	0.007	T	0.26121	-1.0112	7	0.19590	T	0.45	.	5.4137	0.16361	0.0:0.4658:0.2616:0.2726	.	80	D6RBF3	.	S	80	.	ENSP00000424181:R80S	R	-	3	2	PPARGC1A	23495467	0.122000	0.22280	0.019000	0.16419	0.964000	0.63967	0.265000	0.18515	0.097000	0.17492	0.655000	0.94253	AGG		0.388	PPARGC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214976.1	NM_013261		19	39	0	0	0	1	0	19	39				
RYR2	6262	broad.mit.edu	37	1	237957190	237957190	+	Silent	SNP	A	A	G			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr1:237957190A>G	ENST00000366574.2	+	95	14123	c.13806A>G	c.(13804-13806)cgA>cgG	p.R4602R	RYR2_ENST00000360064.6_Silent_p.R4608R|RYR2_ENST00000542537.1_Silent_p.R4586R	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4602					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTTTTAAGCGAGAAAAGGAAG	0.348																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(13804-13806)cgA>cgG		ryanodine receptor 2 (cardiac)							61.0	57.0	58.0					1																	237957190		1808	4070	5878	SO:0001819	synonymous_variant	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237957190A>G	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.13806A>G	1.37:g.237957190A>G						RYR2_ENST00000542537.1_Silent_p.R4586R|RYR2_ENST00000360064.6_Silent_p.R4608R	p.R4602R	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		95	14123	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	4602					Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.13806A>G	CCDS55691.1																																																																																				0.348	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		14	11	0	0	0	1	0	14	11				
GSPT2	23708	broad.mit.edu	37	X	51487066	51487066	+	Missense_Mutation	SNP	A	A	G			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chrX:51487066A>G	ENST00000340438.4	+	1	586	c.344A>G	c.(343-345)gAg>gGg	p.E115G		NM_018094.4	NP_060564.2	Q8IYD1	ERF3B_HUMAN	G1 to S phase transition 2	115					cell cycle (GO:0007049)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational termination (GO:0006415)	cytosol (GO:0005829)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Ovarian(276;0.236)					CCTTCCCGAGAGGAACCGTTA	0.557																																						ENST00000340438.4																			0				breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20						c.(343-345)gAg>gGg		G1 to S phase transition 2							19.0	18.0	18.0					X																	51487066		2202	4296	6498	SO:0001583	missense	23708				cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination	cytoplasm	GTP binding|GTPase activity|protein binding	g.chrX:51487066A>G	AI285711	CCDS14336.1	Xp11.22	2008-05-14			ENSG00000189369	ENSG00000189369			4622	protein-coding gene	gene with protein product		300418				10575220	Standard	NM_018094		Approved	eRF3b, FLJ10441	uc004dpl.3	Q8IYD1	OTTHUMG00000021538	ENST00000340438.4:c.344A>G	X.37:g.51487066A>G	ENSP00000341247:p.Glu115Gly						p.E115G	NM_018094.4	NP_060564.2	Q8IYD1	ERF3B_HUMAN			1	586	+	Ovarian(276;0.236)		115					Q9H909|Q9NVY0|Q9NY44	Missense_Mutation	SNP	ENST00000340438.4	37	c.344A>G	CCDS14336.1	.	.	.	.	.	.	.	.	.	.	A	2.577	-0.298351	0.05532	.	.	ENSG00000189369	ENST00000340438;ENST00000502175	T	0.32988	1.43	4.86	3.67	0.42095	.	0.590265	0.15513	N	0.258438	T	0.24314	0.0589	L	0.43152	1.355	0.32629	N	0.522305	B	0.02656	0.0	B	0.04013	0.001	T	0.18903	-1.0322	10	0.33141	T	0.24	-10.9936	7.7739	0.29026	0.7902:0.2098:0.0:0.0	.	115	Q8IYD1	ERF3B_HUMAN	G	115;32	ENSP00000341247:E115G	ENSP00000341247:E115G	E	+	2	0	GSPT2	51503806	1.000000	0.71417	0.980000	0.43619	0.002000	0.02628	2.669000	0.46825	0.773000	0.33404	-0.394000	0.06481	GAG		0.557	GSPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056587.1			5	22	0	0	0	1	0	5	22				
RYR2	6262	broad.mit.edu	37	1	237957189	237957189	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr1:237957189G>C	ENST00000366574.2	+	95	14122	c.13805G>C	c.(13804-13806)cGa>cCa	p.R4602P	RYR2_ENST00000360064.6_Missense_Mutation_p.R4608P|RYR2_ENST00000542537.1_Missense_Mutation_p.R4586P	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4602					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ATTTTTAAGCGAGAAAAGGAA	0.353																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(13804-13806)cGa>cCa		ryanodine receptor 2 (cardiac)							60.0	56.0	57.0					1																	237957189		1811	4070	5881	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237957189G>C	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.13805G>C	1.37:g.237957189G>C	ENSP00000355533:p.Arg4602Pro					RYR2_ENST00000542537.1_Missense_Mutation_p.R4586P|RYR2_ENST00000360064.6_Missense_Mutation_p.R4608P	p.R4602P	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		95	14122	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	4602					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.13805G>C	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.858334	0.91433	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000536033	D;D;D	0.98044	-4.68;-4.65;-4.67	5.69	5.69	0.88448	.	0.000000	0.52532	U	0.000069	D	0.98865	0.9616	M	0.84948	2.725	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.81914	0.995;0.992	D	0.99564	1.0969	10	0.87932	D	0	.	20.181	0.98201	0.0:0.0:1.0:0.0	.	35;4602	F5H3C7;Q92736	.;RYR2_HUMAN	P	4602;4608;4586;35	ENSP00000355533:R4602P;ENSP00000353174:R4608P;ENSP00000443798:R4586P	ENSP00000353174:R4608P	R	+	2	0	RYR2	236023812	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.813000	0.99286	2.840000	0.97914	0.655000	0.94253	CGA		0.353	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		14	11	0	0	0	1	0	14	11				
FOXD4	2298	broad.mit.edu	37	9	117617	117617	+	Missense_Mutation	SNP	T	T	C			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr9:117617T>C	ENST00000382500.2	-	1	800	c.503A>G	c.(502-504)gAg>gGg	p.E168G		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	168					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		GCGGCCCGGCTCGCGGGGGAT	0.637																																						ENST00000382500.2																			0				endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14						c.(502-504)gAg>gGg		forkhead box D4							118.0	162.0	147.0					9																	117617		2197	4295	6492	SO:0001583	missense	2298				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr9:117617T>C	U13223	CCDS34975.1	9p24.3	2014-09-17			ENSG00000170122	ENSG00000170122		"""Forkhead boxes"""	3805	protein-coding gene	gene with protein product		601092		FKHL9		7957066, 8825632, 12234674	Standard	NM_207305		Approved	FREAC5, FOXD4a	uc003zfz.4	Q12950	OTTHUMG00000021015	ENST00000382500.2:c.503A>G	9.37:g.117617T>C	ENSP00000371940:p.Glu168Gly						p.E168G	NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)	1	800	-	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	168					B2RN05|B9EGL7|Q5VVK1|Q8WXT6	Missense_Mutation	SNP	ENST00000382500.2	37	c.503A>G	CCDS34975.1	.	.	.	.	.	.	.	.	.	.	.	16.93	3.258161	0.59321	.	.	ENSG00000170122	ENST00000382500	D	0.95724	-3.79	2.24	2.24	0.28232	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.000000	0.37577	U	0.002028	D	0.95046	0.8396	L	0.52759	1.655	0.52099	D	0.99994	P	0.37207	0.587	P	0.51516	0.672	D	0.94101	0.7362	10	0.87932	D	0	.	9.2262	0.37407	0.0:0.0:0.0:1.0	.	168	Q12950	FOXD4_HUMAN	G	168	ENSP00000371940:E168G	ENSP00000371940:E168G	E	-	2	0	FOXD4	107617	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.754000	0.68743	1.032000	0.39892	0.242000	0.17961	GAG		0.637	FOXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055433.1	NM_207305		7	405	0	0	0	1	0	7	405				
MUC17	140453	broad.mit.edu	37	7	100677014	100677014	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr7:100677014G>A	ENST00000306151.4	+	3	2381	c.2317G>A	c.(2317-2319)Gac>Aac	p.D773N		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	773	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.D773N(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AACTCCTCTTGACACAAGCAC	0.478																																						ENST00000306151.4																			1	Substitution - Missense(1)	p.D773N(1)	lung(1)	NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(2317-2319)Gac>Aac		mucin 17, cell surface associated							278.0	281.0	280.0					7																	100677014		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100677014G>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.2317G>A	7.37:g.100677014G>A	ENSP00000302716:p.Asp773Asn						p.D773N	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	2381	+	Lung NSC(181;0.136)|all_lung(186;0.182)		773			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.2317G>A	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	G	3.392	-0.124055	0.06795	.	.	ENSG00000169876	ENST00000306151	T	0.02890	4.12	0.932	-0.127	0.13510	.	.	.	.	.	T	0.01156	0.0038	N	0.14661	0.345	0.09310	N	1	P	0.47604	0.898	B	0.31686	0.134	T	0.45011	-0.9290	9	0.16896	T	0.51	.	2.5066	0.04646	0.2339:0.326:0.4402:0.0	.	773	Q685J3	MUC17_HUMAN	N	773	ENSP00000302716:D773N	ENSP00000302716:D773N	D	+	1	0	MUC17	100463734	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.450000	0.06803	-0.016000	0.14127	0.134000	0.15878	GAC		0.478	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		112	272	0	0	0	1	0	112	272				
PIK3CA	5290	broad.mit.edu	37	3	178921552	178921552	+	Missense_Mutation	SNP	A	A	T			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr3:178921552A>T	ENST00000263967.3	+	5	1191	c.1034A>T	c.(1033-1035)aAt>aTt	p.N345I		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	345	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|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)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.N345I(4)|p.N345S(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	ACCTACGTGAATGTAAATATT	0.303		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		5	Substitution - Missense(5)	p.N345I(4)|p.N345S(1)	endometrium(2)|breast(2)|central_nervous_system(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(1033-1035)aAt>aTt		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							67.0	66.0	67.0					3																	178921552		1807	4074	5881	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178921552A>T		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1034A>T	3.37:g.178921552A>T	ENSP00000263967:p.Asn345Ile	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.N345I	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		5	1191	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		345					Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1034A>T	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.466842	0.84425	.	.	ENSG00000121879	ENST00000263967	T	0.70164	-0.46	5.41	5.41	0.78517	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (1);	0.000000	0.85682	D	0.000000	T	0.80899	0.4712	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.82404	-0.0474	10	0.56958	D	0.05	-21.0442	15.721	0.77710	1.0:0.0:0.0:0.0	.	345	P42336	PK3CA_HUMAN	I	345	ENSP00000263967:N345I	ENSP00000263967:N345I	N	+	2	0	PIK3CA	180404246	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.851000	0.92205	2.166000	0.68216	0.402000	0.26972	AAT		0.303	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			70	2	0	0	0	1	0	70	2				
CHM	1121	broad.mit.edu	37	X	85211373	85211373	+	Silent	SNP	C	C	T			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chrX:85211373C>T	ENST00000357749.2	-	8	980	c.951G>A	c.(949-951)gaG>gaA	p.E317E	CHM_ENST00000467744.2_Intron|CHM_ENST00000537751.1_Silent_p.E169E	NM_000390.2	NP_000381.1	P24386	RAE1_HUMAN	choroideremia (Rab escort protein 1)	317					blood vessel development (GO:0001568)|protein geranylgeranylation (GO:0018344)|protein targeting to membrane (GO:0006612)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytosol (GO:0005829)|Rab-protein geranylgeranyltransferase complex (GO:0005968)	GTPase activator activity (GO:0005096)|Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1)	20		all_lung(315;5.41e-06)				AAAATGTGATCTCTTCATATC	0.328																																						ENST00000357749.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1)	20						c.(949-951)gaG>gaA		choroideremia (Rab escort protein 1)							46.0	40.0	42.0					X																	85211373		2203	4300	6503	SO:0001819	synonymous_variant	1121				intracellular protein transport|protein geranylgeranylation|response to stimulus|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity	g.chrX:85211373C>T	X78121	CCDS14454.1, CCDS48139.1	Xq21.1-q21.3	2014-09-17			ENSG00000188419	ENSG00000188419			1940	protein-coding gene	gene with protein product		300390		TCD, DXS540		1373238	Standard	XM_006724615		Approved	REP-1	uc004eet.3	P24386	OTTHUMG00000021937	ENST00000357749.2:c.951G>A	X.37:g.85211373C>T						CHM_ENST00000537751.1_Silent_p.E169E|CHM_ENST00000467744.1_Intron	p.E317E	NM_000390.2	NP_000381.1	P24386	RAE1_HUMAN			8	980	-		all_lung(315;5.41e-06)	317					A1L4D2|O43732	Silent	SNP	ENST00000357749.2	37	c.951G>A	CCDS14454.1																																																																																				0.328	CHM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057396.3	NM_000390		6	21	0	0	0	1	0	6	21				
ZNF736	728927	broad.mit.edu	37	7	63796701	63796701	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr7:63796701C>T	ENST00000423484.2	+	2	190	c.68C>T	c.(67-69)tCt>tTt	p.S23F	ZNF736_ENST00000355095.4_Missense_Mutation_p.S23F			B4DX44	ZN736_HUMAN	zinc finger protein 736	23	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|stomach(1)|urinary_tract(1)	9						TGCCTGGACTCTGCTCAGCAG	0.423																																						ENST00000355095.4																			0				breast(1)|endometrium(6)|stomach(1)|urinary_tract(1)	9						c.(67-69)tCt>tTt		zinc finger protein 736							58.0	61.0	60.0					7																	63796701		692	1591	2283	SO:0001583	missense	728927				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:63796701C>T		CCDS55114.1	7q11.21	2013-01-08			ENSG00000234444	ENSG00000234444		"""Zinc fingers, C2H2-type"", ""-"""	32467	protein-coding gene	gene with protein product							Standard	XM_006716104		Approved		uc011kdo.2	B4DX44	OTTHUMG00000156537	ENST00000423484.2:c.68C>T	7.37:g.63796701C>T	ENSP00000400852:p.Ser23Phe					ZNF736_ENST00000423484.1_Missense_Mutation_p.S23F	p.S23F	NM_001170905.1	NP_001164376.1	B4DX44	ZN736_HUMAN			3	390	+			23			KRAB.			Missense_Mutation	SNP	ENST00000423484.2	37	c.68C>T	CCDS55114.1	.	.	.	.	.	.	.	.	.	.	C	8.973	0.973512	0.18736	.	.	ENSG00000234444	ENST00000355095;ENST00000423484	T;T	0.01902	4.57;4.57	0.602	0.602	0.17535	Krueppel-associated box (4);	.	.	.	.	T	0.08179	0.0204	M	0.69463	2.115	0.19300	N	0.999975	D	0.60160	0.987	D	0.67382	0.951	T	0.17961	-1.0352	7	.	.	.	.	.	.	.	.	23	B4DX44	ZN736_HUMAN	F	23	ENSP00000347210:S23F;ENSP00000400852:S23F	.	S	+	2	0	ZNF736	63434136	0.000000	0.05858	0.433000	0.26760	0.551000	0.35334	-0.370000	0.07523	0.561000	0.29186	0.313000	0.20887	TCT		0.423	ZNF736-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000344559.2	NM_001170905		25	14	0	0	0	1	0	25	14				
WT1-AS	51352	broad.mit.edu	37	11	32460592	32460592	+	RNA	SNP	C	C	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr11:32460592C>A	ENST00000395900.1	+	0	1470				WT1-AS_ENST00000478367.1_RNA|WT1-AS_ENST00000459866.1_RNA|WT1-AS_ENST00000426618.2_RNA|WT1-AS_ENST00000442957.1_RNA|WT1-AS_ENST00000494911.1_RNA|WT1-AS_ENST00000525436.1_RNA	NR_023920.1		Q06250	WIT1_HUMAN	WT1 antisense RNA											endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	6						CACCCCGGCGCTGTCCACTGC	0.612																																						ENST00000395900.1																			0				endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	6															37.0	35.0	36.0					11																	32460592		2202	4299	6501			0							g.chr11:32460592C>A	BC002734		11p13	2012-10-19	2012-08-15	2012-01-25	ENSG00000183242	ENSG00000183242		"""Long non-coding RNAs"", ""-"""	18135	non-coding RNA	RNA, long non-coding	"""Wilms tumor associated protein"""	607899	"""Wilms tumor upstream neighbor 1"", ""WT1 antisense RNA (non-protein coding)"""	WIT1		2173145, 8406502, 17210670	Standard	NR_120546		Approved	WIT-1, WT1AS, WT1-AS1	uc010red.2	Q06250	OTTHUMG00000039557		11.37:g.32460592C>A						WT1-AS_ENST00000426618.2_RNA|WT1-AS_ENST00000442957.1_RNA|WT1-AS_ENST00000525436.1_RNA		NR_023920.1						0	1470	+								Q4KMY0|Q96A27	RNA	SNP	ENST00000395900.1	37																																																																																						0.612	WT1-AS-001	KNOWN	basic	antisense	antisense	OTTHUMT00000095437.1	NR_023920		13	24	1	0	2.48551e-13	1	2.97507e-13	13	24				
CFAP46	54777	broad.mit.edu	37	10	134671120	134671120	+	Missense_Mutation	SNP	C	C	A	rs560273448	byFrequency	TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr10:134671120C>A	ENST00000368586.5	-	39	5648	c.5548G>T	c.(5548-5550)Gtc>Ttc	p.V1850F	TTC40_ENST00000263170.5_Missense_Mutation_p.V11F	NM_001200049.2	NP_001186978.2														breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						AGGCCCTGGACGCTGTGAAGC	0.572																																						ENST00000368586.5																			0				breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						c.(5548-5550)Gtc>Ttc		tetratricopeptide repeat domain 40																																				SO:0001583	missense	54777							g.chr10:134671120C>A																												ENST00000368586.5:c.5548G>T	10.37:g.134671120C>A	ENSP00000357575:p.Val1850Phe					TTC40_ENST00000263170.5_Missense_Mutation_p.V11F	p.V1850F	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN			39	5648	-			11						Missense_Mutation	SNP	ENST00000368586.5	37	c.5548G>T	CCDS58101.1	.	.	.	.	.	.	.	.	.	.	C	12.97	2.098545	0.37048	.	.	ENSG00000171811	ENST00000368586;ENST00000263170	T;T	0.18810	2.49;2.19	2.78	-1.48	0.08745	.	.	.	.	.	T	0.23330	0.0564	L	0.38175	1.15	0.09310	N	1	D	0.59767	0.986	P	0.54590	0.756	T	0.16837	-1.0389	9	0.66056	D	0.02	.	6.4057	0.21662	0.0:0.4815:0.0:0.5185	.	11	Q8IYW2	CJ092_HUMAN	F	1850;11	ENSP00000357575:V1850F;ENSP00000263170:V11F	ENSP00000263170:V11F	V	-	1	0	C10orf93	134521110	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.649000	0.01993	-0.333000	0.08476	-0.384000	0.06662	GTC		0.572	TTC40-001	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000051095.3			13	10	1	0	2.62699e-14	1	3.21755e-14	13	10				
CNPY2	10330	broad.mit.edu	37	12	56705098	56705098	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr12:56705098C>T	ENST00000273308.4	-	4	845	c.305G>A	c.(304-306)cGc>cAc	p.R102H	RP11-977G19.12_ENST00000546789.1_RNA|RP11-977G19.11_ENST00000549565.1_RNA|RP11-977G19.11_ENST00000549860.1_RNA|CNPY2_ENST00000551720.1_5'Flank|RP11-977G19.10_ENST00000549318.1_Missense_Mutation_p.R102H	NM_014255.5	NP_055070.1	Q9Y2B0	CNPY2_HUMAN	canopy FGF signaling regulator 2	102	Saposin B-type. {ECO:0000255|PROSITE- ProRule:PRU00415}.				negative regulation of gene expression (GO:0010629)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|regulation of low-density lipoprotein particle clearance (GO:0010988)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)				large_intestine(2)|lung(2)	4						GTAGTTCTTGCGATGGGTGGA	0.532																																						ENST00000273308.4																			0				large_intestine(2)|lung(2)	4						c.(304-306)cGc>cAc		canopy FGF signaling regulator 2							222.0	202.0	209.0					12																	56705098		2203	4300	6503	SO:0001583	missense	10330					endoplasmic reticulum|integral to plasma membrane	protein binding	g.chr12:56705098C>T	AB015631	CCDS8914.1	12q15	2013-07-23	2013-07-23	2007-10-22		ENSG00000257727			13529	protein-coding gene	gene with protein product		605861	"""transmembrane protein 4"", ""canopy 2 homolog (zebrafish)"""	TMEM4		10072769, 15905959	Standard	NM_001190991		Approved	HP10390, ZSIG9, Cnpy2	uc001sku.2	Q9Y2B0	OTTHUMG00000170330	ENST00000273308.4:c.305G>A	12.37:g.56705098C>T	ENSP00000273308:p.Arg102His					RP11-977G19.11_ENST00000549860.1_RNA|RP11-977G19.11_ENST00000549565.1_RNA|RP11-977G19.10_ENST00000549318.1_Missense_Mutation_p.R102H	p.R102H	NM_014255.5	NP_055070.1	Q9Y2B0	CNPY2_HUMAN			4	845	-			102			Saposin B-type.		B2R7B9|Q9UHE9	Missense_Mutation	SNP	ENST00000273308.4	37	c.305G>A	CCDS8914.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.785469	0.90282	.	.	ENSG00000144785;ENSG00000257727;ENSG00000257727;ENSG00000257727	ENST00000549318;ENST00000273308;ENST00000551475;ENST00000551286	T;T;T;T	0.38077	1.16;1.16;1.16;1.16	5.56	4.67	0.58626	Saposin B (1);	0.000000	0.85682	D	0.000000	T	0.57695	0.2071	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.72075	0.976	T	0.61173	-0.7116	10	0.56958	D	0.05	-24.5889	13.4557	0.61197	0.0:0.9233:0.0:0.0767	.	102	Q9Y2B0	CNPY2_HUMAN	H	102;102;102;50	ENSP00000446743:R102H;ENSP00000273308:R102H;ENSP00000448809:R102H;ENSP00000446784:R50H	ENSP00000273308:R102H	R	-	2	0	RP11-977G19.10;CNPY2	54991365	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.667000	0.83888	1.503000	0.48686	0.561000	0.74099	CGC		0.532	CNPY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408546.1	NM_014255		115	111	0	0	0	1	0	115	111				
COL19A1	1310	broad.mit.edu	37	6	70646733	70646733	+	Silent	SNP	C	C	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr6:70646733C>A	ENST00000322773.4	+	8	906	c.804C>A	c.(802-804)gcC>gcA	p.A268A		NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	268					cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						CTGCTCATGCCAGTAAAATGT	0.418																																						ENST00000322773.4																			0				breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						c.(802-804)gcC>gcA		collagen, type XIX, alpha 1							170.0	160.0	164.0					6																	70646733		2203	4300	6503	SO:0001819	synonymous_variant	1310				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr6:70646733C>A		CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"""Collagens"""	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.804C>A	6.37:g.70646733C>A							p.A268A	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN			8	906	+			268					Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Silent	SNP	ENST00000322773.4	37	c.804C>A	CCDS4970.1																																																																																				0.418	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1			6	83	1	0	3.59834e-05	1	3.94817e-05	6	83				
TACC3	10460	broad.mit.edu	37	4	1729792	1729792	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr4:1729792G>C	ENST00000313288.4	+	4	769	c.663G>C	c.(661-663)gaG>gaC	p.E221D		NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3	221					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|cytoplasmic sequestering of transcription factor (GO:0042994)|hemopoiesis (GO:0030097)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of cell cycle (GO:0051726)|regulation of microtubule-based process (GO:0032886)|response to hypoxia (GO:0001666)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			ACGGAGCCGAGGAAGAATGCA	0.617																																					Ovarian(120;482 2294 11894 35824)	ENST00000313288.4																			0				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						c.(661-663)gaG>gaC		transforming, acidic coiled-coil containing protein 3							20.0	23.0	22.0					4																	1729792		2201	4297	6498	SO:0001583	missense	10460					centrosome		g.chr4:1729792G>C	AF093543	CCDS3352.1	4p16.3	2008-07-29			ENSG00000013810	ENSG00000013810			11524	protein-coding gene	gene with protein product		605303				17675670	Standard	NM_006342		Approved	ERIC1	uc003gdo.3	Q9Y6A5	OTTHUMG00000089535	ENST00000313288.4:c.663G>C	4.37:g.1729792G>C	ENSP00000326550:p.Glu221Asp						p.E221D	NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)		4	769	+		Breast(71;0.212)|all_epithelial(65;0.241)	221					Q2NKK4|Q3KQS5|Q9UMQ1	Missense_Mutation	SNP	ENST00000313288.4	37	c.663G>C	CCDS3352.1	.	.	.	.	.	.	.	.	.	.	G	8.720	0.914022	0.17907	.	.	ENSG00000013810	ENST00000313288;ENST00000493975;ENST00000458173	T;T;T	0.48201	2.91;0.9;0.82	4.45	-7.66	0.01277	.	1.893040	0.03062	N	0.156031	T	0.25606	0.0623	N	0.25647	0.755	0.09310	N	1	B;B	0.19817	0.039;0.009	B;B	0.18561	0.022;0.01	T	0.13098	-1.0522	10	0.13853	T	0.58	.	2.4401	0.04492	0.2786:0.3301:0.2881:0.1031	.	221;221	B4DYJ1;Q9Y6A5	.;TACC3_HUMAN	D	221	ENSP00000326550:E221D;ENSP00000418095:E221D;ENSP00000415914:E221D	ENSP00000326550:E221D	E	+	3	2	TACC3	1699590	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.982000	0.03762	-1.665000	0.01477	0.563000	0.77884	GAG		0.617	TACC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000203730.2			16	123	0	0	0	1	0	16	123				
DCST1	149095	broad.mit.edu	37	1	155013892	155013892	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr1:155013892G>A	ENST00000295542.1	+	7	647	c.551G>A	c.(550-552)aGa>aAa	p.R184K	DCST1_ENST00000392480.1_Missense_Mutation_p.R184K|DCST1_ENST00000368419.2_Missense_Mutation_p.R184K|DCST1_ENST00000423025.2_Missense_Mutation_p.R159K	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	184						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			GAATTGCTGAGAGCAGAGACT	0.577																																						ENST00000295542.1																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27						c.(550-552)aGa>aAa		DC-STAMP domain containing 1							39.0	39.0	39.0					1																	155013892		2203	4299	6502	SO:0001583	missense	149095					integral to membrane	zinc ion binding	g.chr1:155013892G>A	AK057347	CCDS1083.1, CCDS44235.1	1q22	2008-02-05			ENSG00000163357	ENSG00000163357			26539	protein-coding gene	gene with protein product							Standard	NM_152494		Approved	FLJ32785	uc001fgn.2	Q5T197	OTTHUMG00000041314	ENST00000295542.1:c.551G>A	1.37:g.155013892G>A	ENSP00000295542:p.Arg184Lys					DCST1_ENST00000368419.2_Missense_Mutation_p.R184K|DCST1_ENST00000423025.2_Missense_Mutation_p.R159K|DCST1_ENST00000392480.1_Missense_Mutation_p.R184K	p.R184K	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.000434)		7	647	+	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		184					B4DXA0|E9PHV3|Q5T198|Q6P1W6|Q71S70|Q96M70	Missense_Mutation	SNP	ENST00000295542.1	37	c.551G>A	CCDS1083.1	.	.	.	.	.	.	.	.	.	.	G	5.144	0.212253	0.09757	.	.	ENSG00000163357	ENST00000295542;ENST00000392480;ENST00000423025;ENST00000368419	T;T;T;T	0.55930	0.49;0.49;0.49;0.49	4.29	-2.7	0.06004	.	2.035180	0.02455	N	0.085946	T	0.04003	0.0112	N	0.00237	-1.79	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.32719	-0.9896	10	0.02654	T	1	-0.0997	9.8783	0.41218	0.5049:0.0:0.4951:0.0	.	159;209;184	E9PHV3;E9PJX3;Q5T197	.;.;DCST1_HUMAN	K	184;184;159;184	ENSP00000295542:R184K;ENSP00000376271:R184K;ENSP00000387369:R159K;ENSP00000357404:R184K	ENSP00000295542:R184K	R	+	2	0	DCST1	153280516	0.000000	0.05858	0.026000	0.17262	0.569000	0.35902	-0.122000	0.10627	-0.613000	0.05694	0.313000	0.20887	AGA		0.577	DCST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099006.1	NM_152494		5	50	0	0	0	1	0	5	50				
CUBN	8029	broad.mit.edu	37	10	16882348	16882348	+	Missense_Mutation	SNP	T	T	G			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr10:16882348T>G	ENST00000377833.4	-	62	10078	c.10013A>C	c.(10012-10014)cAg>cCg	p.Q3338P		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3338	CUB 25. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GTCCTGAAGCTGTAAGTAATT	0.448																																						ENST00000377833.4																			0				breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241						c.(10012-10014)cAg>cCg		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						111.0	95.0	100.0					10																	16882348		2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16882348T>G	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.10013A>C	10.37:g.16882348T>G	ENSP00000367064:p.Gln3338Pro						p.Q3338P	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN			62	10078	-			3338			CUB 25.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.10013A>C	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	T	13.16	2.152763	0.38021	.	.	ENSG00000107611	ENST00000377833;ENST00000545090	T	0.18657	2.2	4.74	3.56	0.40772	CUB (5);	0.495836	0.14869	N	0.293644	T	0.22781	0.0550	L	0.27053	0.805	0.80722	D	1	P	0.43633	0.813	P	0.49332	0.607	T	0.01452	-1.1351	10	0.59425	D	0.04	.	10.4344	0.44426	0.1463:0.0:0.0:0.8537	.	3338	O60494	CUBN_HUMAN	P	3338;179	ENSP00000367064:Q3338P	ENSP00000367064:Q3338P	Q	-	2	0	CUBN	16922354	1.000000	0.71417	0.992000	0.48379	0.342000	0.28953	3.705000	0.54823	0.622000	0.30249	0.459000	0.35465	CAG		0.448	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		21	38	0	0	0	1	0	21	38				
MAMLD1	10046	broad.mit.edu	37	X	149639635	149639635	+	Missense_Mutation	SNP	A	A	T			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chrX:149639635A>T	ENST00000370401.2	+	4	2100	c.1790A>T	c.(1789-1791)cAg>cTg	p.Q597L	MAMLD1_ENST00000432680.2_Missense_Mutation_p.Q572L|MAMLD1_ENST00000262858.5_Missense_Mutation_p.Q597L|MAMLD1_ENST00000426613.2_Missense_Mutation_p.Q572L|MAMLD1_ENST00000455522.2_Missense_Mutation_p.Q78L			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	597	Poly-Gln.				male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					TTgcagctgcagcagcagcag	0.607																																						ENST00000370401.2																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37						c.(1789-1791)cAg>cTg		mastermind-like domain containing 1							67.0	59.0	62.0					X																	149639635		2203	4300	6503	SO:0001583	missense	10046				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:149639635A>T	U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619			2568	protein-coding gene	gene with protein product		300120	"""chromosome X open reading frame 6"""	CXorf6		9169146, 17086185, 18162467	Standard	NM_001177465		Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.1790A>T	X.37:g.149639635A>T	ENSP00000359428:p.Gln597Leu					MAMLD1_ENST00000455522.2_Missense_Mutation_p.Q78L|MAMLD1_ENST00000262858.5_Missense_Mutation_p.Q597L|MAMLD1_ENST00000426613.2_Missense_Mutation_p.Q572L|MAMLD1_ENST00000432680.2_Missense_Mutation_p.Q572L	p.Q597L			Q13495	MAMD1_HUMAN			4	2100	+	Acute lymphoblastic leukemia(192;6.56e-05)		597			Poly-Gln.		B2RCQ4|B4DG93|B9EGA5	Missense_Mutation	SNP	ENST00000370401.2	37	c.1790A>T	CCDS14693.2	.	.	.	.	.	.	.	.	.	.	A	11.70	1.717048	0.30413	.	.	ENSG00000013619	ENST00000445612;ENST00000370401;ENST00000432680;ENST00000262858;ENST00000426613;ENST00000455522	T;T;T;T;T	0.68181	0.18;-0.31;0.18;0.17;0.83	3.95	-2.22	0.06952	.	0.914301	0.09376	N	0.810639	T	0.65565	0.2703	L	0.44542	1.39	0.26213	N	0.979273	P;P;P;P	0.51351	0.835;0.835;0.944;0.835	P;P;P;P	0.49999	0.529;0.529;0.628;0.529	T	0.63198	-0.6691	10	0.66056	D	0.02	-0.2357	12.9577	0.58441	0.4497:0.5503:0.0:0.0	.	469;572;572;597	F6WVG1;Q13495-4;Q13495-3;Q13495	.;.;.;MAMD1_HUMAN	L	469;597;572;597;572;78	ENSP00000359428:Q597L;ENSP00000414517:Q572L;ENSP00000262858:Q597L;ENSP00000397438:Q572L;ENSP00000389106:Q78L	ENSP00000262858:Q597L	Q	+	2	0	MAMLD1	149390293	0.130000	0.22417	0.006000	0.13384	0.394000	0.30568	0.878000	0.28126	-0.614000	0.05687	-0.496000	0.04628	CAG		0.607	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060844.2	NM_005491		5	102	0	0	0	1	0	5	102				
SFPQ	6421	broad.mit.edu	37	1	35652661	35652661	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr1:35652661C>T	ENST00000357214.5	-	9	2025	c.1927G>A	c.(1927-1929)Gaa>Aaa	p.E643K		NM_005066.2	NP_005057.1	P23246	SFPQ_HUMAN	splicing factor proline/glutamine-rich	643					alternative mRNA splicing, via spliceosome (GO:0000380)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H3 deacetylation (GO:0070932)|mRNA processing (GO:0006397)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902177)|regulation of circadian rhythm (GO:0042752)|rhythmic process (GO:0048511)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|histone deacetylase binding (GO:0042826)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)		SFPQ/TFE3(6)	NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				GGATTAGCTTCATAACCTATG	0.463			T	TFE3	papillary renal cell																																	ENST00000357214.5				Dom	yes		1	1p34.3	6421	T	splicing factor proline/glutamine rich(polypyrimidine tract binding protein associated)			E	TFE3		papillary renal cell	SFPQ/TFE3(6)	0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						c.(1927-1929)Gaa>Aaa		splicing factor proline/glutamine-rich							111.0	104.0	106.0					1																	35652661		2203	4300	6503	SO:0001583	missense	6421				alternative nuclear mRNA splicing, via spliceosome|DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|nucleotide binding|protein binding|RNA binding	g.chr1:35652661C>T	X70944	CCDS388.1	1p34.3	2014-06-13	2010-05-04		ENSG00000116560	ENSG00000116560		"""RNA binding motif (RRM) containing"""	10774	protein-coding gene	gene with protein product	"""polypyrimidine tract binding protein associated"", ""protein phosphatase 1, regulatory subunit 140"""	605199	"""splicing factor proline/glutamine rich (polypyrimidine tract-binding protein-associated)"""			8449401	Standard	NM_005066		Approved	PSF, PPP1R140	uc001bys.3	P23246	OTTHUMG00000004157	ENST00000357214.5:c.1927G>A	1.37:g.35652661C>T	ENSP00000349748:p.Glu643Lys						p.E643K	NM_005066.2	NP_005057.1	P23246	SFPQ_HUMAN			9	2025	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)	643					P30808|Q5SZ71	Missense_Mutation	SNP	ENST00000357214.5	37	c.1927G>A	CCDS388.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.957567	0.92726	.	.	ENSG00000116560	ENST00000357214	T	0.25085	1.82	5.92	5.92	0.95590	.	0.168198	0.56097	D	0.000023	T	0.45418	0.1341	L	0.43152	1.355	0.80722	D	1	D	0.69078	0.997	D	0.73380	0.98	T	0.04333	-1.0959	10	0.32370	T	0.25	-21.2531	20.3081	0.98638	0.0:1.0:0.0:0.0	.	643	P23246	SFPQ_HUMAN	K	643	ENSP00000349748:E643K	ENSP00000349748:E643K	E	-	1	0	SFPQ	35425248	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.419000	0.59835	2.795000	0.96236	0.655000	0.94253	GAA		0.463	SFPQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011984.4	NM_005066		17	86	0	0	0	1	0	17	86				
DHX9	1660	broad.mit.edu	37	1	182850453	182850453	+	Silent	SNP	C	C	T			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr1:182850453C>T	ENST00000367549.3	+	23	2789	c.2679C>T	c.(2677-2679)ttC>ttT	p.F893F	DHX9_ENST00000485081.1_3'UTR	NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	893					ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|circadian rhythm (GO:0007623)|CRD-mediated mRNA stabilization (GO:0070934)|DNA duplex unwinding (GO:0032508)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|positive regulation of type I interferon production (GO:0032481)|RNA splicing (GO:0008380)	centrosome (GO:0005813)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|RNA polymerase II transcription factor binding (GO:0001085)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						CAGAGCCTTTCATCAATGAAG	0.438																																					Colon(69;210 1162 3697 13559 39565)	ENST00000367549.3																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						c.(2677-2679)ttC>ttT		DEAH (Asp-Glu-Ala-His) box helicase 9							138.0	135.0	136.0					1																	182850453		1948	4136	6084	SO:0001819	synonymous_variant	1660				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding	g.chr1:182850453C>T	L13848	CCDS41444.1	1q25	2013-05-13	2013-05-13	2003-06-20	ENSG00000135829	ENSG00000135829		"""DEAH-boxes"""	2750	protein-coding gene	gene with protein product	"""NDH II"", ""RNA helicase A"""	603115	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 9 (RNA helicase A, nuclear DNA helicase II; leukophysin)"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 9"""	LKP, DDX9		8344961, 9111062	Standard	NM_001357		Approved	RHA	uc001gpr.3	Q08211	OTTHUMG00000035337	ENST00000367549.3:c.2679C>T	1.37:g.182850453C>T						DHX9_ENST00000485081.1_3'UTR	p.F893F	NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN			23	2789	+			893					B2RNV4|Q05CI5|Q12803|Q32Q22|Q5VY62|Q6PD69|Q99556	Silent	SNP	ENST00000367549.3	37	c.2679C>T	CCDS41444.1																																																																																				0.438	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085522.2	NM_030588		54	47	0	0	0	1	0	54	47				
EXTL3	2137	broad.mit.edu	37	8	28574908	28574908	+	Silent	SNP	C	C	T			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr8:28574908C>T	ENST00000220562.4	+	3	2234	c.1332C>T	c.(1330-1332)tcC>tcT	p.S444S	EXTL3_ENST00000519886.1_Intron|EXTL3_ENST00000523149.1_Silent_p.S60S	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	444					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|positive regulation of cell growth (GO:0030307)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0001888)|metal ion binding (GO:0046872)			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		TGGTTATTTCCTCTGGGTGTG	0.617																																						ENST00000220562.4																			0				biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36						c.(1330-1332)tcC>tcT		exostosin-like glycosyltransferase 3							57.0	58.0	58.0					8																	28574908		2203	4300	6503	SO:0001819	synonymous_variant	2137					integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding	g.chr8:28574908C>T	U76188	CCDS6070.1	8p22-p12	2013-03-01	2013-03-01		ENSG00000012232	ENSG00000012232	2.4.1.223	"""Exostosin glycosyltransferase family"""	3518	protein-coding gene	gene with protein product	"""REG receptor"", ""glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase"""	605744	"""exostoses (multiple)-like 3"""			9479495, 9450183, 11257457	Standard	NM_001440		Approved	botv, REGR	uc003xgz.2	O43909	OTTHUMG00000102146	ENST00000220562.4:c.1332C>T	8.37:g.28574908C>T						EXTL3_ENST00000519886.1_Intron|EXTL3_ENST00000523149.1_Silent_p.S60S	p.S444S	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)	3	2234	+		Ovarian(32;0.069)	444					D3DST8|O00225|Q53XT3	Silent	SNP	ENST00000220562.4	37	c.1332C>T	CCDS6070.1																																																																																				0.617	EXTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219987.3	NM_001440		4	62	0	0	0	1	0	4	62				
SLC4A5	57835	broad.mit.edu	37	2	74491273	74491273	+	Splice_Site	SNP	C	C	T			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr2:74491273C>T	ENST00000451608.2	-	15	1879		c.e15+1		SLC4A5_ENST00000357822.5_Splice_Site|SLC4A5_ENST00000359484.4_Splice_Site|SLC4A5_ENST00000377632.1_Splice_Site|SLC4A5_ENST00000423644.1_Splice_Site|SLC4A5_ENST00000394019.2_Splice_Site|SLC4A5_ENST00000346834.4_Splice_Site|SLC4A5_ENST00000358683.4_Splice_Site|SLC4A5_ENST00000483195.1_Splice_Site|SLC4A5_ENST00000377634.4_Splice_Site																							GCCTGACTCACTTGTGGTGGA	0.592																																						ENST00000394019.2																			0				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.e10+1		solute carrier family 4 (sodium bicarbonate cotransporter), member 5							158.0	131.0	141.0					2																	74491273		2203	4300	6503	SO:0001630	splice_region_variant	57835					apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity	g.chr2:74491273C>T																												ENST00000451608.2:c.573+1G>A	2.37:g.74491273C>T						SLC4A5_ENST00000483195.1_Splice_Site|RP11-287D1.3_ENST00000451608.2_Splice_Site|SLC4A5_ENST00000423644.1_Splice_Site|SLC4A5_ENST00000377634.4_Splice_Site|SLC4A5_ENST00000377632.1_Splice_Site|SLC4A5_ENST00000359484.4_Splice_Site|SLC4A5_ENST00000358683.4_Splice_Site|SLC4A5_ENST00000357822.5_Splice_Site|SLC4A5_ENST00000346834.4_Splice_Site		NM_133478.2	NP_597812.1	Q9BY07	S4A5_HUMAN			10	1113	-									Splice_Site	SNP	ENST00000451608.2	37			.	.	.	.	.	.	.	.	.	.	C	18.05	3.537635	0.65085	.	.	ENSG00000188687	ENST00000394019;ENST00000451608;ENST00000346834;ENST00000359484;ENST00000423644;ENST00000358683;ENST00000357822;ENST00000377632;ENST00000377634;ENST00000425249	.	.	.	4.69	4.69	0.59074	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4929	0.75624	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC4A5	74344781	1.000000	0.71417	0.984000	0.44739	0.591000	0.36615	7.626000	0.83164	2.557000	0.86248	0.655000	0.94253	.		0.592	RP11-287D1.3-002	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	protein_coding	OTTHUMT00000445907.1		Intron	17	48	0	0	0	1	0	17	48				
ZNF683	257101	broad.mit.edu	37	1	26691433	26691433	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr1:26691433G>T	ENST00000436292.1	-	4	724	c.604C>A	c.(604-606)Cca>Aca	p.P202T	ZNF683_ENST00000374204.1_Missense_Mutation_p.P202T|ZNF683_ENST00000349618.3_Missense_Mutation_p.P202T|ZNF683_ENST00000403843.1_Missense_Mutation_p.P202T			Q8IZ20	ZN683_HUMAN	zinc finger protein 683	202					natural killer cell differentiation (GO:0001779)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		AGGTGGGGTGGAGGCAGGAGA	0.602																																						ENST00000436292.1																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15						c.(604-606)Cca>Aca		zinc finger protein 683							75.0	74.0	74.0					1																	26691433		2203	4300	6503	SO:0001583	missense	257101				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:26691433G>T	BC029505	CCDS279.2	1p36.11	2013-01-08			ENSG00000176083	ENSG00000176083		"""Zinc fingers, C2H2-type"""	28495	protein-coding gene	gene with protein product	"""hypothetical protein MGC33414"""					12477932	Standard	NM_173574		Approved	MGC33414	uc009vsj.1	Q8IZ20	OTTHUMG00000003521	ENST00000436292.1:c.604C>A	1.37:g.26691433G>T	ENSP00000388792:p.Pro202Thr					ZNF683_ENST00000403843.1_Missense_Mutation_p.P202T|ZNF683_ENST00000374204.1_Missense_Mutation_p.P202T|ZNF683_ENST00000349618.3_Missense_Mutation_p.P202T	p.P202T			Q8IZ20	ZN683_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)	4	724	-		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	202					Q5T141|Q5T146|Q5T147|Q5T149|Q8NEN4	Missense_Mutation	SNP	ENST00000436292.1	37	c.604C>A		.	.	.	.	.	.	.	.	.	.	G	14.89	2.671731	0.47781	.	.	ENSG00000176083	ENST00000403843;ENST00000436292;ENST00000374204;ENST00000349618;ENST00000455900;ENST00000451801;ENST00000454975	T;T;T;T;T;T;T	0.34859	2.91;2.91;2.83;2.83;2.12;2.12;1.34	4.5	1.32	0.21799	.	0.337381	0.21806	N	0.068842	T	0.14356	0.0347	N	0.19112	0.55	0.09310	N	1	P;P	0.40731	0.617;0.728	B;B	0.33960	0.173;0.084	T	0.13229	-1.0517	10	0.12430	T	0.62	-0.837	3.6851	0.08326	0.2358:0.2088:0.5554:0.0	.	202;202	Q8IZ20-2;Q8IZ20	.;ZN683_HUMAN	T	202;202;202;202;210;202;152	ENSP00000384782:P202T;ENSP00000388792:P202T;ENSP00000363320:P202T;ENSP00000344095:P202T;ENSP00000411289:P210T;ENSP00000411290:P202T;ENSP00000412881:P152T	ENSP00000344095:P202T	P	-	1	0	ZNF683	26564020	0.134000	0.22483	0.252000	0.24328	0.751000	0.42716	0.814000	0.27239	0.525000	0.28522	0.561000	0.74099	CCA		0.602	ZNF683-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000009794.2	NM_173574		14	37	1	0	1.49906e-05	1	1.6798e-05	14	37				
CYP4Z2P	163720	broad.mit.edu	37	1	47325231	47325231	+	RNA	SNP	C	C	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr1:47325231C>A	ENST00000505841.1	-	0	1204					NR_002788.2		Q8N1L4	CP4Z2_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 2, pseudogene							integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)										TCCACAGAGTCTAAGGATAAA	0.388																																						ENST00000505841.1																			0																																																			0							g.chr1:47325231C>A	AY262057		1p33	2013-07-25	2013-05-03		ENSG00000154198	ENSG00000154198		"""Cytochrome P450s"""	24426	pseudogene	pseudogene						15059886	Standard	NR_002788		Approved	FLJ40054	uc031pmm.1	Q8N1L4	OTTHUMG00000008024		1.37:g.47325231C>A								NR_002788.2						0	1204	-								Q66ZJ5	RNA	SNP	ENST00000505841.1	37																																																																																						0.388	CYP4Z2P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000361094.1	NR_002788		3	12	1	0	6.4e-05	1	6.97379e-05	3	12				
NPC1L1	29881	broad.mit.edu	37	7	44574199	44574199	+	Silent	SNP	G	G	T			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr7:44574199G>T	ENST00000289547.4	-	6	2068	c.2013C>A	c.(2011-2013)ggC>ggA	p.G671G	NPC1L1_ENST00000423141.1_Silent_p.G671G|NPC1L1_ENST00000381160.3_Silent_p.G671G|NPC1L1_ENST00000546276.1_Silent_p.G671G	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	671	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intestinal cholesterol absorption (GO:0030299)|lipoprotein metabolic process (GO:0042157)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)	brush border membrane (GO:0031526)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hedgehog receptor activity (GO:0008158)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	CGGCCACCCCGCCGAGGCCCA	0.622											OREG0018038	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000289547.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57						c.(2011-2013)ggC>ggA		NPC1-like 1	Ezetimibe(DB00973)						60.0	58.0	59.0					7																	44574199		2203	4300	6503	SO:0001819	synonymous_variant	29881				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding	g.chr7:44574199G>T		CCDS5491.1, CCDS43575.1, CCDS75587.1	7p13	2012-11-15	2012-11-15		ENSG00000015520	ENSG00000015520			7898	protein-coding gene	gene with protein product		608010	"""NPC1 (Niemann-Pick disease, type C1, gene)-like 1"""			10783261	Standard	NM_013389		Approved		uc003tlb.3	Q9UHC9	OTTHUMG00000023691	ENST00000289547.4:c.2013C>A	7.37:g.44574199G>T			OREG0018038	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	925	NPC1L1_ENST00000546276.1_Silent_p.G671G|NPC1L1_ENST00000423141.1_Silent_p.G671G|NPC1L1_ENST00000381160.3_Silent_p.G671G	p.G671G	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN			6	2068	-			671			SSD.		A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Silent	SNP	ENST00000289547.4	37	c.2013C>A	CCDS5491.1																																																																																				0.622	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251256.1	NM_013389		17	60	1	0	6.49762e-13	1	7.71898e-13	17	60				
TRIM56	81844	broad.mit.edu	37	7	100730756	100730756	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr7:100730756C>T	ENST00000306085.6	+	3	460	c.163C>T	c.(163-165)Cgc>Tgc	p.R55C		NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN	tripartite motif containing 56	55					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|interferon-beta production (GO:0032608)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of type I interferon production (GO:0032481)|protein K63-linked ubiquitination (GO:0070534)|regulation of type I interferon production (GO:0032479)|response to type I interferon (GO:0034340)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					CGGCCGCGTCCGCTGCCCCGA	0.647																																					Ovarian(89;1092 1379 22756 38989 39611)	ENST00000306085.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(163-165)Cgc>Tgc		tripartite motif containing 56							35.0	46.0	42.0					7																	100730756		2129	4230	6359	SO:0001583	missense	81844				defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding	g.chr7:100730756C>T	BK000511	CCDS43625.1	7q11.2	2013-01-09	2011-01-25		ENSG00000169871	ENSG00000169871		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19028	protein-coding gene	gene with protein product			"""tripartite motif-containing 56"""				Standard	NM_030961		Approved	RNF109	uc003uxq.3	Q9BRZ2	OTTHUMG00000157032	ENST00000306085.6:c.163C>T	7.37:g.100730756C>T	ENSP00000305161:p.Arg55Cys						p.R55C	NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN			3	460	+	Lung NSC(181;0.136)|all_lung(186;0.182)		55					Q6PJS5|Q86VT6|Q8N2H8|Q8NAC0|Q9H031	Missense_Mutation	SNP	ENST00000306085.6	37	c.163C>T	CCDS43625.1	.	.	.	.	.	.	.	.	.	.	C	11.89	1.774070	0.31411	.	.	ENSG00000169871	ENST00000306085;ENST00000412507	D;D	0.86164	-2.08;-2.08	3.56	3.56	0.40772	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.38111	N	0.001815	T	0.81823	0.4904	L	0.48877	1.53	0.44402	D	0.997312	B;B	0.19073	0.033;0.004	B;B	0.13407	0.009;0.002	T	0.79981	-0.1574	10	0.52906	T	0.07	.	10.9314	0.47220	0.0:1.0:0.0:0.0	.	55;55	C9JI91;Q9BRZ2	.;TRI56_HUMAN	C	55	ENSP00000305161:R55C;ENSP00000404186:R55C	ENSP00000305161:R55C	R	+	1	0	TRIM56	100517476	0.762000	0.28451	0.931000	0.37212	0.149000	0.21700	1.218000	0.32467	2.280000	0.76307	0.655000	0.94253	CGC		0.647	TRIM56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347185.1	NM_030961		27	72	0	0	0	1	0	27	72				
SLC17A5	26503	broad.mit.edu	37	6	74363526	74363526	+	Silent	SNP	C	C	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr6:74363526C>A	ENST00000355773.5	-	1	352	c.84G>T	c.(82-84)cgG>cgT	p.R28R	SLC17A5_ENST00000393019.3_Silent_p.R28R	NM_012434.4	NP_036566.1	Q9NRA2	S17A5_HUMAN	solute carrier family 17 (acidic sugar transporter), member 5	28					amino acid transport (GO:0006865)|anion transport (GO:0006820)|ion transport (GO:0006811)|proton transport (GO:0015992)|sialic acid transport (GO:0015739)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|synapse (GO:0045202)	sialic acid transmembrane transporter activity (GO:0015136)|sugar:proton symporter activity (GO:0005351)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CGGCTTCGGCCCGTGGGGCGC	0.726																																						ENST00000355773.5																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(82-84)cgG>cgT		solute carrier family 17 (acidic sugar transporter), member 5							8.0	10.0	10.0					6																	74363526		2114	4187	6301	SO:0001819	synonymous_variant	26503				anion transport	integral to plasma membrane|lysosomal membrane|membrane fraction	sialic acid:hydrogen symporter activity	g.chr6:74363526C>A	AJ387747	CCDS4981.1	6q13	2013-07-18	2013-07-18		ENSG00000119899	ENSG00000119899		"""Solute carriers"""	10933	protein-coding gene	gene with protein product		604322	"""sialic acid storage disease"", ""solute carrier family 17 (anion/sugar transporter), member 5"""	SIASD		10581036, 8198127	Standard	NM_012434		Approved	AST, SD, ISSD, NSD, SIALIN, SLD	uc003phn.4	Q9NRA2	OTTHUMG00000015039	ENST00000355773.5:c.84G>T	6.37:g.74363526C>A						SLC17A5_ENST00000393019.3_Silent_p.R28R	p.R28R	NM_012434.4	NP_036566.1	Q9NRA2	S17A5_HUMAN			1	352	-			28					Q5SZ76|Q8NBR5|Q9UGH0	Silent	SNP	ENST00000355773.5	37	c.84G>T	CCDS4981.1																																																																																				0.726	SLC17A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041228.1			3	6	1	0	0.115264	1	0.115264	3	6				
MCAM	4162	broad.mit.edu	37	11	119182524	119182524	+	Missense_Mutation	SNP	T	T	G			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr11:119182524T>G	ENST00000264036.4	-	10	1293	c.1279A>C	c.(1279-1281)Att>Ctt	p.I427L	MCAM_ENST00000392814.1_Missense_Mutation_p.I376L	NM_006500.2	NP_006491.2	P43121	MUC18_HUMAN	melanoma cell adhesion molecule	427					anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|glomerular filtration (GO:0003094)|vascular wound healing (GO:0061042)	external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1)	22		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		TCACCAAAAATGGCCACGTTG	0.602																																						ENST00000392814.1																			0				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1)	22						c.(1126-1128)Att>Ctt		melanoma cell adhesion molecule							61.0	66.0	65.0					11																	119182524		2199	4295	6494	SO:0001583	missense	4162				anatomical structure morphogenesis|cell adhesion	integral to membrane|plasma membrane		g.chr11:119182524T>G	X68264	CCDS31690.1	11q23.3	2013-01-29				ENSG00000076706		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6934	protein-coding gene	gene with protein product	"""Gicerin"""	155735				2602381, 10702685	Standard	XM_005271552		Approved	MUC18, CD146	uc001pwf.3	P43121		ENST00000264036.4:c.1279A>C	11.37:g.119182524T>G	ENSP00000264036:p.Ile427Leu					MCAM_ENST00000264036.4_Missense_Mutation_p.I427L	p.I376L			P43121	MUC18_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)	5	1855	-		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	427			Ig-like C2-type 2.		O95812|Q59E86|Q6PHR3|Q6ZTR2	Missense_Mutation	SNP	ENST00000264036.4	37	c.1126A>C	CCDS31690.1	.	.	.	.	.	.	.	.	.	.	T	15.03	2.711323	0.48517	.	.	ENSG00000076706	ENST00000264036;ENST00000392814	T;T	0.63096	0.62;-0.02	4.86	-3.13	0.05266	.	.	.	.	.	T	0.51007	0.1649	L	0.42245	1.32	0.23876	N	0.996596	B	0.19331	0.035	B	0.17433	0.018	T	0.43909	-0.9362	9	0.59425	D	0.04	-1.0639	11.1484	0.48444	0.0:0.6019:0.0:0.3981	.	427	P43121	MUC18_HUMAN	L	427;376	ENSP00000264036:I427L;ENSP00000376561:I376L	ENSP00000264036:I427L	I	-	1	0	MCAM	118687734	0.001000	0.12720	0.657000	0.29651	0.904000	0.53231	-0.659000	0.05323	-0.830000	0.04262	-0.372000	0.07161	ATT		0.602	MCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388332.2			70	5	0	0	0	1	0	70	5				
TIAM1	7074	broad.mit.edu	37	21	32513671	32513671	+	Silent	SNP	C	C	T	rs367873088		TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr21:32513671C>T	ENST00000286827.3	-	22	4098	c.3627G>A	c.(3625-3627)gcG>gcA	p.A1209A	TIAM1_ENST00000541036.1_Silent_p.A1149A	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1209	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.A1209A(2)		autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CCTCGCTCTCCGCATCGGTCA	0.597																																						ENST00000286827.3																			2	Substitution - coding silent(2)	p.A1209A(2)	lung(2)	autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						c.(3625-3627)gcG>gcA		T-cell lymphoma invasion and metastasis 1		C		1,4405	2.1+/-5.4	0,1,2202	111.0	99.0	103.0		3627	-11.1	0.0	21		103	0,8600		0,0,4300	no	coding-synonymous	TIAM1	NM_003253.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		1209/1592	32513671	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7074				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr21:32513671C>T		CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.3627G>A	21.37:g.32513671C>T						TIAM1_ENST00000541036.1_Silent_p.A1149A	p.A1209A	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN			22	4098	-			1209			DH.		B7ZLR6|F5GZ53|Q17RT7	Silent	SNP	ENST00000286827.3	37	c.3627G>A	CCDS13609.1	.	.	.	.	.	.	.	.	.	.	C	0.170	-1.072346	0.01918	2.27E-4	0.0	ENSG00000156299	ENST00000399841	.	.	.	5.54	-11.1	0.00147	.	.	.	.	.	T	0.46814	0.1412	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62704	-0.6798	5	0.87932	D	0	.	1.2185	0.01919	0.2539:0.2312:0.2994:0.2155	.	.	.	.	R	1049	.	ENSP00000382735:G1049R	G	-	1	0	TIAM1	31435542	0.000000	0.05858	0.008000	0.14137	0.060000	0.15804	-9.102000	0.00014	-3.099000	0.00245	-3.037000	0.00071	GGA		0.597	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253		35	98	0	0	0	1	0	35	98				
OR56B4	196335	broad.mit.edu	37	11	6129437	6129437	+	Silent	SNP	T	T	G			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr11:6129437T>G	ENST00000316529.3	+	1	524	c.429T>G	c.(427-429)acT>acG	p.T143T	RP11-290F24.3_ENST00000529961.1_RNA	NM_001005181.1	NP_001005181.1	Q8NH76	O56B4_HUMAN	olfactory receptor, family 56, subfamily B, member 4	143						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCATAGTCACTAAAGCTTTTG	0.498																																						ENST00000316529.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2)	21						c.(427-429)acT>acG		olfactory receptor, family 56, subfamily B, member 4							124.0	110.0	115.0					11																	6129437		2201	4296	6497	SO:0001819	synonymous_variant	196335				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6129437T>G	AB065513	CCDS31406.1	11p15.4	2012-08-09			ENSG00000180919	ENSG00000180919		"""GPCR / Class A : Olfactory receptors"""	15248	protein-coding gene	gene with protein product							Standard	NM_001005181		Approved		uc010qzx.2	Q8NH76	OTTHUMG00000165531	ENST00000316529.3:c.429T>G	11.37:g.6129437T>G						RP11-290F24.3_ENST00000529961.1_RNA	p.T143T	NM_001005181.1	NP_001005181.1	Q8NH76	O56B4_HUMAN		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	524	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	143					Q6IFD7	Silent	SNP	ENST00000316529.3	37	c.429T>G	CCDS31406.1																																																																																				0.498	OR56B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384668.1	NM_001005181		26	58	0	0	0	1	0	26	58				
TBC1D9	23158	broad.mit.edu	37	4	141578966	141578966	+	Splice_Site	SNP	C	C	T			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr4:141578966C>T	ENST00000442267.2	-	12	1996	c.1922G>A	c.(1921-1923)gGt>gAt	p.G641D		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	641	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				CACCAGTGCACCTGTGGCAGC	0.502																																						ENST00000442267.2																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31						c.e12-1		TBC1 domain family, member 9 (with GRAM domain)							166.0	162.0	164.0					4																	141578966		2122	4241	6363	SO:0001630	splice_region_variant	23158					intracellular	calcium ion binding|Rab GTPase activator activity	g.chr4:141578966C>T	AB020689	CCDS47136.1	4q31.1	2013-01-10	2006-07-12		ENSG00000109436	ENSG00000109436		"""EF-hand domain containing"""	21710	protein-coding gene	gene with protein product			"""TBC1 domain family, member 9"""			12970790	Standard	NM_015130		Approved	KIAA0882, MDR1	uc010ioj.3	Q6ZT07	OTTHUMG00000161405	ENST00000442267.2:c.1922-1G>A	4.37:g.141578966C>T							p.G641_splice	NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN			12	1996	-	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)	641			Rab-GAP TBC.		A6H8U8|D3DNZ1|O94958	Splice_Site	SNP	ENST00000442267.2	37	c.1921_splice	CCDS47136.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.689663	0.88735	.	.	ENSG00000109436	ENST00000442267	T	0.13657	2.57	5.63	5.63	0.86233	Rab-GAP/TBC domain (5);	0.000000	0.85682	D	0.000000	T	0.48502	0.1503	M	0.90145	3.09	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.57283	-0.7838	10	0.87932	D	0	.	19.6978	0.96034	0.0:1.0:0.0:0.0	.	641	Q6ZT07	TBCD9_HUMAN	D	641	ENSP00000411197:G641D	ENSP00000411197:G641D	G	-	2	0	TBC1D9	141798416	1.000000	0.71417	1.000000	0.80357	0.711000	0.40976	7.770000	0.85390	2.649000	0.89929	0.650000	0.86243	GGT		0.502	TBC1D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364806.1	NM_015130	Missense_Mutation	41	78	0	0	0	1	0	41	78				
CLPTM1L	81037	broad.mit.edu	37	5	1318557	1318557	+	Missense_Mutation	SNP	A	A	C			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr5:1318557A>C	ENST00000320895.5	-	17	1801	c.1544T>G	c.(1543-1545)gTg>gGg	p.V515G	CLPTM1L_ENST00000506641.1_5'UTR|CLPTM1L_ENST00000320927.6_Missense_Mutation_p.V479G|CLPTM1L_ENST00000507807.1_Missense_Mutation_p.V346G	NM_030782.3	NP_110409.2	Q96KA5	CLP1L_HUMAN	CLPTM1-like	515					apoptotic process (GO:0006915)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)		Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)		GCGTTTATCCACAGGATAAAG	0.562																																						ENST00000320895.5																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						c.(1543-1545)gTg>gGg		CLPTM1-like							54.0	54.0	54.0					5																	1318557		2203	4300	6503	SO:0001583	missense	81037				apoptosis	integral to membrane		g.chr5:1318557A>C	AK027306	CCDS3862.1	5p15.33	2008-02-05			ENSG00000049656	ENSG00000049656			24308	protein-coding gene	gene with protein product	"""cisplatin resistance related protein"""	612585				11162647	Standard	NM_030782		Approved	FLJ14400, CRR9	uc003jch.3	Q96KA5	OTTHUMG00000131015	ENST00000320895.5:c.1544T>G	5.37:g.1318557A>C	ENSP00000313854:p.Val515Gly					CLPTM1L_ENST00000507807.1_Missense_Mutation_p.V346G|CLPTM1L_ENST00000506641.1_5'UTR|CLPTM1L_ENST00000320927.6_Missense_Mutation_p.V479G	p.V515G	NM_030782.3	NP_110409.2	Q96KA5	CLP1L_HUMAN	Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)	17	1801	-	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)		515					D3DTC1|Q658W6|Q7LG29|Q96AZ0|Q9H3N4	Missense_Mutation	SNP	ENST00000320895.5	37	c.1544T>G	CCDS3862.1	.	.	.	.	.	.	.	.	.	.	A	22.4	4.286301	0.80803	.	.	ENSG00000049656	ENST00000320895;ENST00000507807;ENST00000320927	T;T;T	0.56941	0.43;0.58;0.55	5.49	5.49	0.81192	.	0.184362	0.46442	D	0.000288	T	0.77356	0.4118	M	0.90814	3.15	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.82653	-0.0351	10	0.87932	D	0	-27.3208	14.5515	0.68070	1.0:0.0:0.0:0.0	.	515;346	Q96KA5;G5E9Z2	CLP1L_HUMAN;.	G	515;346;479	ENSP00000313854:V515G;ENSP00000423321:V346G;ENSP00000315196:V479G	ENSP00000313854:V515G	V	-	2	0	CLPTM1L	1371557	1.000000	0.71417	0.998000	0.56505	0.934000	0.57294	7.455000	0.80726	2.076000	0.62316	0.459000	0.35465	GTG		0.562	CLPTM1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253649.2	NM_030782		7	63	0	0	0	1	0	7	63				
ASH2L	9070	broad.mit.edu	37	8	37985968	37985968	+	Missense_Mutation	SNP	A	A	T			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr8:37985968A>T	ENST00000343823.6	+	11	1634	c.1325A>T	c.(1324-1326)cAg>cTg	p.Q442L	ASH2L_ENST00000428278.2_Missense_Mutation_p.Q348L|ASH2L_ENST00000250635.7_Missense_Mutation_p.Q348L|ASH2L_ENST00000521652.1_Missense_Mutation_p.Q348L|ASH2L_ENST00000545394.1_Missense_Mutation_p.Q303L	NM_004674.4	NP_004665.2	Q9UBL3	ASH2L_HUMAN	ash2 (absent, small, or homeotic)-like (Drosophila)	442	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				cellular response to DNA damage stimulus (GO:0006974)|hemopoiesis (GO:0030097)|histone H3-K4 methylation (GO:0051568)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)	19	Colorectal(12;0.000501)	Lung NSC(58;0.0295)|all_lung(54;0.0413)				GGTTGGTCCCAGCCCCTAGGT	0.527																																						ENST00000343823.6																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)	19						c.(1324-1326)cAg>cTg		ash2 (absent, small, or homeotic)-like (Drosophila)							65.0	63.0	64.0					8																	37985968		2203	4300	6503	SO:0001583	missense	9070				hemopoiesis|histone H3-K4 methylation|positive regulation of cell proliferation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription from RNA polymerase II promoter	Set1C/COMPASS complex	metal ion binding|protein binding|transcription regulatory region DNA binding	g.chr8:37985968A>T	AF056717	CCDS6101.1, CCDS47840.1, CCDS59100.1, CCDS64872.1	8p11.2	2013-01-28	2001-11-28		ENSG00000129691	ENSG00000129691		"""Zinc fingers, PHD-type"""	744	protein-coding gene	gene with protein product		604782	"""ash2 (absent, small, or homeotic, Drosophila, homolog)-like"""	ASH2L1		10393421	Standard	NM_004674		Approved	ASH2L2, ASH2, Bre2	uc003xkt.5	Q9UBL3	OTTHUMG00000164016	ENST00000343823.6:c.1325A>T	8.37:g.37985968A>T	ENSP00000340896:p.Gln442Leu					ASH2L_ENST00000521652.1_Missense_Mutation_p.Q348L|ASH2L_ENST00000428278.2_Missense_Mutation_p.Q348L|ASH2L_ENST00000250635.7_Missense_Mutation_p.Q348L|ASH2L_ENST00000545394.1_Missense_Mutation_p.Q303L	p.Q442L	NM_004674.4	NP_004665.2	Q9UBL3	ASH2L_HUMAN			11	1634	+	Colorectal(12;0.000501)	Lung NSC(58;0.0295)|all_lung(54;0.0413)	442			B30.2/SPRY.		A8K7C3|D3DSW9|O60659|O60660|Q96B62	Missense_Mutation	SNP	ENST00000343823.6	37	c.1325A>T	CCDS6101.1	.	.	.	.	.	.	.	.	.	.	A	27.1	4.797879	0.90538	.	.	ENSG00000129691	ENST00000343823;ENST00000250635;ENST00000545394;ENST00000428278;ENST00000521652	T;T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31;-0.31	5.79	4.61	0.57282	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.85682	D	0.000000	T	0.77883	0.4197	L	0.58969	1.84	0.80722	D	1	P;D	0.59357	0.933;0.985	P;D	0.74023	0.771;0.982	T	0.79063	-0.1957	10	0.72032	D	0.01	.	13.0825	0.59121	0.8659:0.1341:0.0:0.0	.	348;442	Q9UBL3-2;Q9UBL3	.;ASH2L_HUMAN	L	442;348;303;348;348	ENSP00000340896:Q442L;ENSP00000250635:Q348L;ENSP00000443606:Q303L;ENSP00000395310:Q348L;ENSP00000430259:Q348L	ENSP00000250635:Q348L	Q	+	2	0	ASH2L	38105125	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.236000	0.95360	1.005000	0.39183	0.454000	0.30748	CAG		0.527	ASH2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376749.4	NM_004674		36	25	0	0	0	1	0	36	25				
ZBTB38	253461	broad.mit.edu	37	3	141163673	141163673	+	Missense_Mutation	SNP	A	A	G			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr3:141163673A>G	ENST00000514251.1	+	4	2722	c.2443A>G	c.(2443-2445)Att>Gtt	p.I815V	ZBTB38_ENST00000321464.5_Missense_Mutation_p.I816V|ZBTB38_ENST00000441582.2_Missense_Mutation_p.I815V					zinc finger and BTB domain containing 38											breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						AACCAGCAAAATTGAAACCTA	0.433																																						ENST00000514251.1																			0				breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						c.(2443-2445)Att>Gtt		zinc finger and BTB domain containing 38							57.0	55.0	56.0					3																	141163673		1852	4096	5948	SO:0001583	missense	253461				positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:141163673A>G	BC015444	CCDS43157.1	3q23	2014-06-13			ENSG00000177311	ENSG00000177311		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	26636	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 171"""	612218				12477932	Standard	NM_001080412		Approved	FLJ35036, CIBZ, ZNF921, PPP1R171	uc003etw.3	Q8NAP3	OTTHUMG00000160128	ENST00000514251.1:c.2443A>G	3.37:g.141163673A>G	ENSP00000426387:p.Ile815Val					ZBTB38_ENST00000321464.5_Missense_Mutation_p.I816V|ZBTB38_ENST00000441582.2_Missense_Mutation_p.I815V	p.I815V			Q8NAP3	ZBT38_HUMAN			4	2722	+			815						Missense_Mutation	SNP	ENST00000514251.1	37	c.2443A>G	CCDS43157.1	.	.	.	.	.	.	.	.	.	.	A	14.11	2.438711	0.43326	.	.	ENSG00000177311	ENST00000514251;ENST00000441582;ENST00000321464	T;T;T	0.08896	3.04;3.04;3.04	5.48	5.48	0.80851	.	0.061033	0.64402	D	0.000009	T	0.09379	0.0231	L	0.44542	1.39	0.33904	D	0.638815	B;B	0.26195	0.144;0.144	B;B	0.21546	0.035;0.035	T	0.13388	-1.0511	9	.	.	.	-18.6765	15.5602	0.76237	1.0:0.0:0.0:0.0	.	816;815	B4DYR8;Q8NAP3	.;ZBT38_HUMAN	V	815;815;816	ENSP00000426387:I815V;ENSP00000406955:I815V;ENSP00000372635:I816V	.	I	+	1	0	ZBTB38	142646363	1.000000	0.71417	0.989000	0.46669	0.967000	0.64934	7.927000	0.87577	2.080000	0.62538	0.491000	0.48974	ATT		0.433	ZBTB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359329.2			6	75	0	0	0	1	0	6	75				
TP53	7157	broad.mit.edu	37	17	7577559	7577559	+	Missense_Mutation	SNP	G	G	T	rs397516437|rs28934573		TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr17:7577559G>T	ENST00000269305.4	-	7	911	c.722C>A	c.(721-723)tCc>tAc	p.S241Y	TP53_ENST00000420246.2_Missense_Mutation_p.S241Y|TP53_ENST00000359597.4_Missense_Mutation_p.S241Y|TP53_ENST00000455263.2_Missense_Mutation_p.S241Y|TP53_ENST00000413465.2_Missense_Mutation_p.S241Y|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.S241Y	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	241	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		S -> A (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.|S -> C (in sporadic cancers; somatic mutation).|S -> F (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934573). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228}.|S -> P (in sporadic cancers; somatic mutation).|S -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).|S -> Y (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.S241F(85)|p.S241C(26)|p.0?(8)|p.S241Y(8)|p.C242fs*5(6)|p.?(5)|p.S241del(5)|p.S148F(4)|p.N239_C242delNSSC(3)|p.N239_C242>S(1)|p.C238fs*21(1)|p.S241fs*22(1)|p.N239_C242del(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.S148C(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCCCATGCAGGAACTGTTACA	0.572		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		160	Substitution - Missense(124)|Deletion - In frame(13)|Deletion - Frameshift(9)|Whole gene deletion(8)|Unknown(5)|Complex - deletion inframe(1)	p.S241F(85)|p.S241C(26)|p.0?(8)|p.S241Y(8)|p.C242fs*5(6)|p.?(5)|p.S241del(5)|p.S148F(4)|p.N239_C242delNSSC(3)|p.N239_C242>S(1)|p.C238fs*21(1)|p.S241fs*22(1)|p.N239_C242del(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.S148C(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1)	urinary_tract(19)|large_intestine(18)|breast(17)|endometrium(15)|ovary(15)|lung(12)|skin(9)|biliary_tract(8)|central_nervous_system(8)|haematopoietic_and_lymphoid_tissue(7)|upper_aerodigestive_tract(6)|stomach(6)|oesophagus(5)|bone(5)|liver(3)|pancreas(3)|eye(2)|thyroid(1)|kidney(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM920673	TP53	M	rs28934573	c.(721-723)tCc>tAc	Other conserved DNA damage response genes	tumor protein p53							139.0	108.0	118.0					17																	7577559		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577559G>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.722C>A	17.37:g.7577559G>T	ENSP00000269305:p.Ser241Tyr	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000445888.2_Missense_Mutation_p.S241Y|TP53_ENST00000413465.2_Missense_Mutation_p.S241Y|TP53_ENST00000455263.2_Missense_Mutation_p.S241Y|TP53_ENST00000269305.4_Missense_Mutation_p.S241Y|TP53_ENST00000359597.4_Missense_Mutation_p.S241Y	p.S241Y	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	854	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	241		S -> A (in sporadic cancers; somatic mutation).|S -> C (in sporadic cancers; somatic mutation).|S -> F (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934573).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).|S -> Y (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.722C>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.25	3.341685	0.61073	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99857	-7.22;-7.22;-7.22;-7.22;-7.22;-7.22;-7.22;-7.22	4.62	3.64	0.41730	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.120078	0.56097	D	0.000022	D	0.99871	0.9939	M	0.92784	3.345	0.52501	D	0.999952	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.96551	0.9408	10	0.87932	D	0	-35.4617	12.8645	0.57932	0.0:0.1651:0.8349:0.0	.	241;241;148;241;241;241	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	Y	241;241;241;241;241;241;230;148;109;148	ENSP00000410739:S241Y;ENSP00000352610:S241Y;ENSP00000269305:S241Y;ENSP00000398846:S241Y;ENSP00000391127:S241Y;ENSP00000391478:S241Y;ENSP00000425104:S109Y;ENSP00000423862:S148Y	ENSP00000269305:S241Y	S	-	2	0	TP53	7518284	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.346000	0.44027	1.295000	0.44724	0.462000	0.41574	TCC		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		37	4	1	0	0.000228196	1	0.000241979	37	4				
PRDM9	56979	broad.mit.edu	37	5	23526781	23526781	+	Silent	SNP	G	G	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr5:23526781G>A	ENST00000296682.3	+	11	1766	c.1584G>A	c.(1582-1584)gaG>gaA	p.E528E		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	528					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AGTATGGAGAGTGTGGACAAG	0.458										HNSCC(3;0.000094)																												ENST00000296682.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						c.(1582-1584)gaG>gaA		PR domain containing 9							104.0	107.0	106.0					5																	23526781		2104	4260	6364	SO:0001819	synonymous_variant	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23526781G>A	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.1584G>A	5.37:g.23526781G>A		HNSCC(3;0.000094)					p.E528E	NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN			11	1766	+			528					B4DX22|Q27Q50	Silent	SNP	ENST00000296682.3	37	c.1584G>A	CCDS43307.1																																																																																				0.458	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		49	55	0	0	0	1	0	49	55				
ENPP2	5168	broad.mit.edu	37	8	120599309	120599309	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr8:120599309G>C	ENST00000075322.6	-	14	1272	c.1214C>G	c.(1213-1215)cCc>cGc	p.P405R	ENPP2_ENST00000259486.6_Missense_Mutation_p.P457R|ENPP2_ENST00000522167.1_Missense_Mutation_p.P44R|ENPP2_ENST00000522826.1_Missense_Mutation_p.P405R|ENPP2_ENST00000427067.2_Missense_Mutation_p.P401R	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	405					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylcholine catabolic process (GO:0034638)|phospholipid catabolic process (GO:0009395)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alkylglycerophosphoethanolamine phosphodiesterase activity (GO:0047391)|calcium ion binding (GO:0005509)|hydrolase activity (GO:0016787)|lysophospholipase activity (GO:0004622)|nucleic acid binding (GO:0003676)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			AATGGCTTTGGGGTCATCTGT	0.478																																					Melanoma(20;305 879 2501 4818 31020)	ENST00000427067.2																			0				breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69						c.(1201-1203)cCc>cGc		ectonucleotide pyrophosphatase/phosphodiesterase 2							94.0	90.0	92.0					8																	120599309		2203	4300	6503	SO:0001583	missense	0				cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding	g.chr8:120599309G>C	D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	"""autotaxin"""	601060		PDNP2		8586446	Standard	NM_001040092		Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000075322.6:c.1214C>G	8.37:g.120599309G>C	ENSP00000075322:p.Pro405Arg					ENPP2_ENST00000075322.6_Missense_Mutation_p.P405R|ENPP2_ENST00000522826.1_Missense_Mutation_p.P405R|ENPP2_ENST00000522167.1_Missense_Mutation_p.P44R|ENPP2_ENST00000259486.6_Missense_Mutation_p.P457R	p.P401R			Q13822	ENPP2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		14	1382	-	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		405					A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Missense_Mutation	SNP	ENST00000075322.6	37	c.1202C>G	CCDS34936.1	.	.	.	.	.	.	.	.	.	.	G	17.95	3.514255	0.64522	.	.	ENSG00000136960	ENST00000259486;ENST00000427067;ENST00000522167;ENST00000522826;ENST00000075322	T;T;T;T;T	0.70749	-0.51;-0.51;-0.51;-0.51;-0.51	5.56	5.56	0.83823	Alkaline-phosphatase-like, core domain (1);	0.061442	0.64402	D	0.000003	D	0.83041	0.5168	M	0.61703	1.905	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.998;1.0	D;D;D;D	0.78314	0.988;0.984;0.979;0.991	T	0.82912	-0.0222	10	0.52906	T	0.07	.	19.4959	0.95072	0.0:0.0:1.0:0.0	.	405;405;457;44	E9PHP7;Q13822;Q13822-2;E5RIA2	.;ENPP2_HUMAN;.;.	R	457;401;44;405;405	ENSP00000259486:P457R;ENSP00000403315:P401R;ENSP00000429476:P44R;ENSP00000428291:P405R;ENSP00000075322:P405R	ENSP00000075322:P405R	P	-	2	0	ENPP2	120668490	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	7.738000	0.84966	2.618000	0.88619	0.491000	0.48974	CCC		0.478	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000381390.1			5	13	0	0	0	1	0	5	13				
PRAMEF11	440560	broad.mit.edu	37	1	12887606	12887606	+	Missense_Mutation	SNP	C	C	G	rs58074988	byFrequency	TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr1:12887606C>G	ENST00000535591.1	-	3	446	c.251G>C	c.(250-252)tGc>tCc	p.C84S		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	84					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.C84S(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						ATTGAGGAAGCACCCATGGGC	0.483																																						ENST00000535591.1																			1	Substitution - Missense(1)	p.C84S(1)	endometrium(1)	NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						c.(250-252)tGc>tCc		PRAME family member 11																																				SO:0001583	missense	440560							g.chr1:12887606C>G	AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"""-"""	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.251G>C	1.37:g.12887606C>G	ENSP00000439551:p.Cys84Ser						p.C84S	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN			3	446	-			84						Missense_Mutation	SNP	ENST00000535591.1	37	c.251G>C	CCDS53268.1	.	.	.	.	.	.	.	.	.	.	.	8.676	0.903882	0.17760	.	.	ENSG00000204513	ENST00000535591;ENST00000331684;ENST00000437584	T;T	0.18016	2.24;2.24	1.48	-0.635	0.11512	.	1.371720	0.04624	N	0.402516	T	0.15825	0.0381	L	0.54908	1.71	0.09310	N	1	P	0.44816	0.844	B	0.41764	0.366	T	0.23904	-1.0175	10	0.16896	T	0.51	.	3.692	0.08350	0.2835:0.4381:0.2784:0.0	rs58074988	84	O60813	PRA11_HUMAN	S	84;125;84	ENSP00000439551:C84S;ENSP00000391839:C84S	ENSP00000328783:C125S	C	-	2	0	PRAMEF11	12810193	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.358000	0.07641	-0.176000	0.10707	-1.934000	0.00508	TGC		0.483	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_496341		4	86	0	0	0	1	0	4	86				
WDR45	11152	broad.mit.edu	37	X	48933595	48933595	+	Missense_Mutation	SNP	T	T	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chrX:48933595T>A	ENST00000376372.3	-	7	627	c.446A>T	c.(445-447)gAc>gTc	p.D149V	WDR45_ENST00000396681.4_Missense_Mutation_p.D149V|AF196779.12_ENST00000376358.3_Missense_Mutation_p.D47V|WDR45_ENST00000465431.1_5'Flank|WDR45_ENST00000485908.1_Missense_Mutation_p.D114V|WDR45_ENST00000473974.1_Missense_Mutation_p.D149V|WDR45_ENST00000356463.3_Missense_Mutation_p.D150V|PRAF2_ENST00000376390.4_5'Flank|WDR45_ENST00000322995.8_Missense_Mutation_p.D160V|PRAF2_ENST00000491199.1_5'Flank|WDR45_ENST00000376368.2_Missense_Mutation_p.D150V|WDR45_ENST00000553851.1_Missense_Mutation_p.D47V|PRAF2_ENST00000376386.3_5'Flank	NM_001029896.1	NP_001025067.1	Q9Y484	WIPI4_HUMAN	WD repeat domain 45	149					autophagy (GO:0006914)|cell death (GO:0008219)					NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	19						GGGGCAGAGGTCACAGAGCCC	0.597																																						ENST00000356463.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	19						c.(448-450)gAc>gTc		WD repeat domain 45							50.0	40.0	44.0					X																	48933595		2203	4300	6503	SO:0001583	missense	11152				autophagy|response to starvation	organelle membrane	phosphatidylinositol-3,5-bisphosphate binding	g.chrX:48933595T>A	BC003037	CCDS14318.1, CCDS35250.1	Xp11.23	2013-06-06	2004-09-02	2004-09-03	ENSG00000196998	ENSG00000196998		"""WD repeat domain containing"""	28912	protein-coding gene	gene with protein product	"""neurodegeneration with brain iron accumulation 5"""	300526	"""WD repeat domain, X-linked 1"""	WDRX1		12477932	Standard	NM_007075		Approved	JM5, WIPI4, NBIA5	uc004dmk.1	Q9Y484	OTTHUMG00000034500	ENST00000376372.3:c.446A>T	X.37:g.48933595T>A	ENSP00000365551:p.Asp149Val					WDR45_ENST00000376358.3_Missense_Mutation_p.D47V|WDR45_ENST00000376372.3_Missense_Mutation_p.D149V|WDR45_ENST00000396681.4_Missense_Mutation_p.D149V|WDR45_ENST00000473974.1_Missense_Mutation_p.D149V|WDR45_ENST00000485908.1_Missense_Mutation_p.D114V|WDR45_ENST00000322995.8_Missense_Mutation_p.D160V|WDR45_ENST00000553851.1_Missense_Mutation_p.D47V|WDR45_ENST00000376368.2_Missense_Mutation_p.D150V|WDR45_ENST00000470270.1_5'UTR	p.D150V	NM_007075.3	NP_009006.2	Q9Y484	WIPI4_HUMAN			8	887	-			149					A6NGH5|B7WPI2|Q5MNZ5|Q6IBS7|Q6NT94|Q96H03	Missense_Mutation	SNP	ENST00000376372.3	37	c.449A>T	CCDS35250.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	9.546|9.546	1.114573|1.114573	0.20795|0.20795	.|.	.|.	ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000250232|ENSG00000196998	ENST00000553851;ENST00000376372;ENST00000322995;ENST00000356463;ENST00000485908;ENST00000473974;ENST00000376368;ENST00000396681;ENST00000471338;ENST00000475880;ENST00000474053;ENST00000419567;ENST00000476728;ENST00000376358|ENST00000367375	T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.53857|.	2.27;0.6;0.6;0.6;0.6;0.6;0.6;0.6;0.6;0.6;0.6;0.6;0.6;2.27|.	3.92|3.92	3.92|3.92	0.45320|0.45320	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.51024|.	0.1650|.	L|L	0.28556|0.28556	0.865|0.865	0.80722|0.80722	D|D	1|1	P;B;B;P;B;B|.	0.45531|.	0.86;0.087;0.057;0.459;0.017;0.09|.	B;B;B;B;B;B|.	0.42959|.	0.221;0.04;0.054;0.403;0.026;0.008|.	T|.	0.44605|.	-0.9317|.	10|.	0.11182|.	T|.	0.66|.	-16.5073|-16.5073	11.5779|11.5779	0.50875|0.50875	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	47;149;160;114;150;149|.	A6NM71;C9J471;Q9Y484-2;C9JYH8;Q9Y484-3;Q9Y484|.	.;.;.;.;.;WIPI4_HUMAN|.	V|C	47;149;160;150;114;149;150;149;82;115;174;167;125;47|105	ENSP00000451962:D47V;ENSP00000365551:D149V;ENSP00000365543:D160V;ENSP00000348848:D150V;ENSP00000419897:D114V;ENSP00000417211:D149V;ENSP00000365546:D150V;ENSP00000379913:D149V;ENSP00000418466:D82V;ENSP00000418919:D115V;ENSP00000420728:D174V;ENSP00000393640:D167V;ENSP00000419324:D125V;ENSP00000365536:D47V|.	ENSP00000365536:D47V|.	D|X	-|-	2|3	0|0	AF196779.12;WDR45|WDR45	48820539|48820539	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	7.530000|7.530000	0.81962|0.81962	1.525000|1.525000	0.49052|0.49052	0.432000|0.432000	0.28606|0.28606	GAC|TGA		0.597	WDR45-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083418.2	NM_007075		8	25	0	0	0	1	0	8	25				
RP1-274L7.1	0	broad.mit.edu	37	X	129630083	129630083	+	lincRNA	SNP	A	A	C			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chrX:129630083A>C	ENST00000458525.1	-	0	1015				FAM45B_ENST00000592932.1_RNA																							CGTTTTCAGAAGTTTCGGCTG	0.413																																						ENST00000458525.1																			0																				61.0	66.0	64.0					X																	129630083		2203	4297	6500			0							g.chrX:129630083A>C																													X.37:g.129630083A>C						FAM45B_ENST00000592932.1_RNA								0	1015	-									RNA	SNP	ENST00000458525.1	37																																																																																						0.413	RP1-274L7.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000058271.1			19	54	0	0	0	1	0	19	54				
MAP4K2	5871	broad.mit.edu	37	11	64563758	64563758	+	Missense_Mutation	SNP	G	G	A	rs148240107		TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr11:64563758G>A	ENST00000294066.2	-	24	1829	c.1738C>T	c.(1738-1740)Cgc>Tgc	p.R580C	MAP4K2_ENST00000377350.3_Missense_Mutation_p.R572C	NM_004579.3	NP_004570.2	Q12851	M4K2_HUMAN	mitogen-activated protein kinase kinase kinase kinase 2	580	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				activation of JUN kinase activity (GO:0007257)|immune response (GO:0006955)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|positive regulation of JNK cascade (GO:0046330)|protein phosphorylation (GO:0006468)|vesicle targeting (GO:0006903)	Golgi membrane (GO:0000139)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2)	8						GGGATGATGCGCTGGGTGAGG	0.647																																						ENST00000294066.2																			0				cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2)	8						c.(1738-1740)Cgc>Tgc		mitogen-activated protein kinase kinase kinase kinase 2		G	CYS/ARG	0,4402		0,0,2201	77.0	76.0	76.0		1738	4.3	1.0	11	dbSNP_134	76	2,8592	2.2+/-6.3	0,2,4295	yes	missense	MAP4K2	NM_004579.3	180	0,2,6496	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	580/821	64563758	2,12994	2201	4297	6498	SO:0001583	missense	5871				activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting	basolateral plasma membrane|Golgi membrane|soluble fraction	ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr11:64563758G>A	BC047865	CCDS8082.1	11q13.1	2011-06-09			ENSG00000168067	ENSG00000168067		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6864	protein-coding gene	gene with protein product		603166		RAB8IP		7515885	Standard	NM_004579		Approved	GCK, BL44	uc001obh.3	Q12851	OTTHUMG00000045328	ENST00000294066.2:c.1738C>T	11.37:g.64563758G>A	ENSP00000294066:p.Arg580Cys					MAP4K2_ENST00000377350.3_Missense_Mutation_p.R572C	p.R580C	NM_004579.3	NP_004570.2	Q12851	M4K2_HUMAN			24	1829	-			580			CNH.		Q86VU3	Missense_Mutation	SNP	ENST00000294066.2	37	c.1738C>T	CCDS8082.1	.	.	.	.	.	.	.	.	.	.	G	19.41	3.821360	0.71028	0.0	2.33E-4	ENSG00000168067	ENST00000294066;ENST00000377350	T;T	0.72505	-0.66;-0.66	4.34	4.34	0.51931	Citron-like (3);	0.277264	0.31847	N	0.006968	T	0.80204	0.4580	L	0.58510	1.815	0.49483	D	0.99979	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.81988	-0.0680	10	0.87932	D	0	.	12.2627	0.54660	0.0:0.0:1.0:0.0	.	572;580	Q86VU3;Q12851	.;M4K2_HUMAN	C	580;572	ENSP00000294066:R580C;ENSP00000366567:R572C	ENSP00000294066:R580C	R	-	1	0	MAP4K2	64320334	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.673000	0.46858	2.261000	0.74972	0.456000	0.33151	CGC		0.647	MAP4K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105239.1	NM_004579		19	75	0	0	0	1	0	19	75				
CDH9	1007	broad.mit.edu	37	5	26881282	26881282	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr5:26881282G>A	ENST00000231021.4	-	12	2505	c.2333C>T	c.(2332-2334)gCc>gTc	p.A778V		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	778					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						ATACATATCGGCAAGTTTTTT	0.413																																					Melanoma(8;187 585 15745 40864 52829)	ENST00000231021.4																			0				breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						c.(2332-2334)gCc>gTc		cadherin 9, type 2 (T1-cadherin)							138.0	133.0	135.0					5																	26881282		2203	4299	6502	SO:0001583	missense	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26881282G>A	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.2333C>T	5.37:g.26881282G>A	ENSP00000231021:p.Ala778Val						p.A778V	NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN			12	2505	-			778					Q3B7I5	Missense_Mutation	SNP	ENST00000231021.4	37	c.2333C>T	CCDS3893.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.473890	0.84640	.	.	ENSG00000113100	ENST00000231021	D	0.87491	-2.26	5.26	5.26	0.73747	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	D	0.95414	0.8511	H	0.94964	3.605	0.58432	D	0.999998	D;D	0.76494	0.999;0.999	D;D	0.77557	0.99;0.99	D	0.96611	0.9452	9	.	.	.	.	17.4441	0.87574	0.0:0.0:1.0:0.0	.	371;778	B4DFP0;Q9ULB4	.;CADH9_HUMAN	V	778	ENSP00000231021:A778V	.	A	-	2	0	CDH9	26917039	1.000000	0.71417	0.731000	0.30826	0.938000	0.57974	9.835000	0.99442	2.456000	0.83038	0.557000	0.71058	GCC		0.413	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		129	67	0	0	0	1	0	129	67				
ALDH4A1	8659	broad.mit.edu	37	1	19200974	19200974	+	Missense_Mutation	SNP	C	C	A	rs200711248		TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr1:19200974C>A	ENST00000375341.3	-	14	1819	c.1562G>T	c.(1561-1563)gGg>gTg	p.G521V	ALDH4A1_ENST00000538309.1_Missense_Mutation_p.G461V|ALDH4A1_ENST00000290597.5_Missense_Mutation_p.G521V|ALDH4A1_ENST00000538839.1_Missense_Mutation_p.G470V|RP13-279N23.2_ENST00000494072.3_3'UTR	NM_003748.3	NP_003739.2	P30038	AL4A1_HUMAN	aldehyde dehydrogenase 4 family, member A1	521					4-hydroxyproline catabolic process (GO:0019470)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|proline biosynthetic process (GO:0006561)|proline catabolic process (GO:0006562)|proline catabolic process to glutamate (GO:0010133)|proline metabolic process (GO:0006560)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	1-pyrroline-5-carboxylate dehydrogenase activity (GO:0003842)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|electron carrier activity (GO:0009055)|identical protein binding (GO:0042802)			cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TCGGGCCCCCCCAAAGGGCTG	0.607																																						ENST00000375341.3																			0				cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15						c.(1561-1563)gGg>gTg		aldehyde dehydrogenase 4 family, member A1	NADH(DB00157)						73.0	71.0	72.0					1																	19200974		2203	4300	6503	SO:0001583	missense	8659				proline biosynthetic process|proline catabolic process	mitochondrial matrix	1-pyrroline-5-carboxylate dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|electron carrier activity	g.chr1:19200974C>A	U24266	CCDS188.1, CCDS53272.1	1p36	2008-02-05			ENSG00000159423	ENSG00000159423	1.5.1.12	"""Aldehyde dehydrogenases"""	406	protein-coding gene	gene with protein product		606811		ALDH4		8621661	Standard	NM_003748		Approved	P5CDh	uc001bbc.3	P30038	OTTHUMG00000002443	ENST00000375341.3:c.1562G>T	1.37:g.19200974C>A	ENSP00000364490:p.Gly521Val					RP13-279N23.2_ENST00000494072.3_3'UTR|ALDH4A1_ENST00000290597.5_Missense_Mutation_p.G521V|ALDH4A1_ENST00000538839.1_Missense_Mutation_p.G470V|ALDH4A1_ENST00000538309.1_Missense_Mutation_p.G461V	p.G521V	NM_003748.3	NP_003739.2	P30038	AL4A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	14	1819	-		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	521					A8K1Q7|B4DGE4|D2D4A3|Q16882|Q53HU4|Q5JNV6|Q8IZ38|Q96IF0|Q9UDI6	Missense_Mutation	SNP	ENST00000375341.3	37	c.1562G>T	CCDS188.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.776010	0.90195	.	.	ENSG00000159423	ENST00000290597;ENST00000375341;ENST00000538839;ENST00000538309	T;T;T;T	0.53206	0.63;0.63;0.63;0.63	5.42	5.42	0.78866	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	T	0.77471	0.4135	H	0.94658	3.565	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.83996	0.0340	10	0.87932	D	0	-38.9277	15.9436	0.79776	0.0:1.0:0.0:0.0	.	521	P30038	AL4A1_HUMAN	V	521;521;470;461	ENSP00000290597:G521V;ENSP00000364490:G521V;ENSP00000446071:G470V;ENSP00000442988:G461V	ENSP00000290597:G521V	G	-	2	0	ALDH4A1	19073561	1.000000	0.71417	0.994000	0.49952	0.945000	0.59286	7.491000	0.81471	2.539000	0.85634	0.561000	0.74099	GGG		0.607	ALDH4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006954.1			7	91	1	0	2.7689e-08	1	3.19333e-08	7	91				
AP1S2	8905	broad.mit.edu	37	X	15864064	15864064	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chrX:15864064G>T	ENST00000329235.2	-	3	493	c.250C>A	c.(250-252)Cat>Aat	p.H84N	AP1S2_ENST00000421527.2_Missense_Mutation_p.H126N|AP1S2_ENST00000545766.1_Missense_Mutation_p.H126N|AP1S2_ENST00000380291.1_Missense_Mutation_p.H84N|AP1S2_ENST00000479184.1_5'Flank	NM_001272071.1|NM_003916.3	NP_001259000.1|NP_003907.3	P56377	AP1S2_HUMAN	adaptor-related protein complex 1, sigma 2 subunit	84					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	AP-type membrane coat adaptor complex (GO:0030119)|coated pit (GO:0005905)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)	protein transporter activity (GO:0008565)			large_intestine(1)	1	Hepatocellular(33;0.183)					ACATAACGATGAATTATTTCC	0.318																																						ENST00000380291.1																			0				large_intestine(1)	1						c.(250-252)Cat>Aat		adaptor-related protein complex 1, sigma 2 subunit							86.0	87.0	87.0					X																	15864064		2203	4295	6498	SO:0001583	missense	8905				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	AP-type membrane coat adaptor complex|coated pit|cytoplasmic vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein transporter activity	g.chrX:15864064G>T	AB015320	CCDS14173.1, CCDS75958.1	Xp22	2014-01-31			ENSG00000182287	ENSG00000182287			560	protein-coding gene	gene with protein product		300629	"""mental retardation, X-linked 59"", ""mental retardation, X-linked, syndromic 5"", ""Pettigrew X-linked mental retardation syndrome"""	MRX59, MRXS5, PGS		9733768, 17186471, 23756445	Standard	NM_003916		Approved	SIGMA1B	uc010nex.4	P56377	OTTHUMG00000021186	ENST00000329235.2:c.250C>A	X.37:g.15864064G>T	ENSP00000328789:p.His84Asn					AP1S2_ENST00000421527.2_Missense_Mutation_p.H126N|AP1S2_ENST00000329235.2_Missense_Mutation_p.H84N|AP1S2_ENST00000545766.1_Missense_Mutation_p.H126N	p.H84N			P56377	AP1S2_HUMAN			3	366	-	Hepatocellular(33;0.183)		84					B4DSU4|O95326|Q9H2N6	Missense_Mutation	SNP	ENST00000329235.2	37	c.250C>A	CCDS14173.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	g|g|g	28.6|28.6|28.6	4.933560|4.933560|4.933560	0.92458|0.92458|0.92458	.|.|.	.|.|.	ENSG00000182287|ENSG00000182287|ENSG00000182287	ENST00000450644|ENST00000329235;ENST00000380291;ENST00000545766;ENST00000421527;ENST00000340245|ENST00000452376	.|.|.	.|.|.	.|.|.	5.87|5.87|5.87	5.87|5.87|5.87	0.94306|0.94306|0.94306	.|Longin-like (1);AP complex, mu/sigma subunit (1);|.	.|0.000000|.	.|0.85682|.	.|D|.	.|0.000000|.	D|D|.	0.91389|0.91389|.	0.7283|0.7283|.	H|H|H	0.99058|0.99058|0.99058	4.415|4.415|4.415	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|D;D;D;D;D;D|.	.|0.89917|.	.|1.0;0.999;1.0;0.999;0.999;1.0|.	.|D;D;D;D;D;D|.	.|0.97110|.	.|1.0;0.99;1.0;0.996;0.996;0.997|.	D|D|.	0.94685|0.94685|.	0.7869|0.7869|.	5|9|.	.|0.87932|.	.|D|.	.|0|.	-20.7465|-20.7465|-20.7465	19.1328|19.1328|19.1328	0.93414|0.93414|0.93414	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	.|84;126;126;84;84;81|.	.|B7Z853;B4DSU4;B7Z3M9;Q549M9;P56377;E9PE78|.	.|.;.;.;.;AP1S2_HUMAN;.|.	L|N|X	76|84;84;126;126;81|80	.|.|.	.|ENSP00000328789:H84N|.	F|H|S	-|-|-	3|1|2	2|0|0	AP1S2|AP1S2|AP1S2	15773985|15773985|15773985	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.998000|0.998000|0.998000	0.95712|0.95712|0.95712	9.358000|9.358000|9.358000	0.97109|0.97109|0.97109	2.468000|2.468000|2.468000	0.83385|0.83385|0.83385	0.597000|0.597000|0.597000	0.82753|0.82753|0.82753	TTC|CAT|TCA		0.318	AP1S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055893.1	NM_003916		37	65	1	0	4.32679e-17	1	5.34088e-17	37	65				
PDZD2	23037	broad.mit.edu	37	5	32074556	32074556	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr5:32074556G>A	ENST00000438447.1	+	18	3732	c.3344G>A	c.(3343-3345)gGc>gAc	p.G1115D	PDZD2_ENST00000282493.3_Missense_Mutation_p.G1115D			O15018	PDZD2_HUMAN	PDZ domain containing 2	1115					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GAAGGCCTGGGCTCCAGGCAC	0.597																																						ENST00000438447.1																			0				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						c.(3343-3345)gGc>gAc		PDZ domain containing 2							58.0	63.0	61.0					5																	32074556		2203	4300	6503	SO:0001583	missense	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32074556G>A	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.3344G>A	5.37:g.32074556G>A	ENSP00000402033:p.Gly1115Asp					PDZD2_ENST00000282493.3_Missense_Mutation_p.G1115D	p.G1115D			O15018	PDZD2_HUMAN			18	3732	+			1115					Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	37	c.3344G>A	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	G	11.77	1.738265	0.30774	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.07021	3.23;3.23	5.8	-2.53	0.06326	.	0.638340	0.14064	N	0.343833	T	0.05410	0.0143	L	0.47716	1.5	0.09310	N	1	B;P	0.34462	0.03;0.454	B;B	0.32864	0.046;0.154	T	0.40979	-0.9534	10	0.14252	T	0.57	.	4.1192	0.10098	0.072:0.2048:0.2564:0.4667	.	941;1115	B4E3P2;O15018	.;PDZD2_HUMAN	D	1115;917;1115	ENSP00000402033:G1115D;ENSP00000282493:G1115D	ENSP00000282493:G1115D	G	+	2	0	PDZD2	32110313	0.187000	0.23238	0.003000	0.11579	0.000000	0.00434	0.327000	0.19663	-0.490000	0.06707	-1.943000	0.00494	GGC		0.597	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			5	213	0	0	0	1	0	5	213				
GMCL1	64395	broad.mit.edu	37	2	70096956	70096956	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr2:70096956G>A	ENST00000282570.3	+	12	1575	c.1324G>A	c.(1324-1326)Gga>Aga	p.G442R		NM_178439.3	NP_848526.1	Q96IK5	GMCL1_HUMAN	germ cell-less, spermatogenesis associated 1	442					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)	nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	15						GCCATGTAGCGGATCTGTCAG	0.433																																						ENST00000282570.3																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	15						c.(1324-1326)Gga>Aga		germ cell-less, spermatogenesis associated 1							151.0	129.0	136.0					2																	70096956		2203	4300	6503	SO:0001583	missense	64395				cell differentiation|multicellular organismal development|spermatogenesis	nuclear matrix		g.chr2:70096956G>A	AK023119	CCDS1895.1	2p13.3	2013-01-09	2012-08-20		ENSG00000087338	ENSG00000087338		"""BTB/POZ domain containing"""	23843	protein-coding gene	gene with protein product	"""spermatogenesis associated 29"""		"""germ cell-less homolog 1 (Drosophila)"""				Standard	NM_178439		Approved	FLJ13057, BTBD13, GCL1, SPATA29	uc002sfu.3	Q96IK5	OTTHUMG00000129643	ENST00000282570.3:c.1324G>A	2.37:g.70096956G>A	ENSP00000282570:p.Gly442Arg						p.G442R	NM_178439.3	NP_848526.1	Q96IK5	GMCL1_HUMAN			12	1575	+			442					Q9H826|Q9H8V7|Q9H927	Missense_Mutation	SNP	ENST00000282570.3	37	c.1324G>A	CCDS1895.1	.	.	.	.	.	.	.	.	.	.	G	16.42	3.117860	0.56505	.	.	ENSG00000087338	ENST00000282570	T	0.54479	0.57	5.22	5.22	0.72569	.	0.106321	0.64402	D	0.000005	T	0.40015	0.1100	L	0.34521	1.04	0.54753	D	0.999987	B	0.16396	0.017	B	0.15052	0.012	T	0.18808	-1.0325	10	0.23891	T	0.37	-13.6507	11.6927	0.51525	0.0:0.0:0.8232:0.1768	.	442	Q96IK5	GMCL1_HUMAN	R	442	ENSP00000282570:G442R	ENSP00000282570:G442R	G	+	1	0	GMCL1	69950460	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.102000	0.71486	2.585000	0.87301	0.655000	0.94253	GGA		0.433	GMCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251841.2	NM_178439		13	35	0	0	0	1	0	13	35				
ALDH4A1	8659	broad.mit.edu	37	1	19200975	19200975	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr1:19200975C>A	ENST00000375341.3	-	14	1818	c.1561G>T	c.(1561-1563)Ggg>Tgg	p.G521W	ALDH4A1_ENST00000538309.1_Missense_Mutation_p.G461W|ALDH4A1_ENST00000290597.5_Missense_Mutation_p.G521W|ALDH4A1_ENST00000538839.1_Missense_Mutation_p.G470W|RP13-279N23.2_ENST00000494072.3_3'UTR	NM_003748.3	NP_003739.2	P30038	AL4A1_HUMAN	aldehyde dehydrogenase 4 family, member A1	521					4-hydroxyproline catabolic process (GO:0019470)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|proline biosynthetic process (GO:0006561)|proline catabolic process (GO:0006562)|proline catabolic process to glutamate (GO:0010133)|proline metabolic process (GO:0006560)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	1-pyrroline-5-carboxylate dehydrogenase activity (GO:0003842)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|electron carrier activity (GO:0009055)|identical protein binding (GO:0042802)			cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CGGGCCCCCCCAAAGGGCTGC	0.612																																						ENST00000375341.3																			0				cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15	GRCh37	CI983029	ALDH4A1	I		c.(1561-1563)Ggg>Tgg		aldehyde dehydrogenase 4 family, member A1	NADH(DB00157)						73.0	71.0	72.0					1																	19200975		2203	4300	6503	SO:0001583	missense	8659				proline biosynthetic process|proline catabolic process	mitochondrial matrix	1-pyrroline-5-carboxylate dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|electron carrier activity	g.chr1:19200975C>A	U24266	CCDS188.1, CCDS53272.1	1p36	2008-02-05			ENSG00000159423	ENSG00000159423	1.5.1.12	"""Aldehyde dehydrogenases"""	406	protein-coding gene	gene with protein product		606811		ALDH4		8621661	Standard	NM_003748		Approved	P5CDh	uc001bbc.3	P30038	OTTHUMG00000002443	ENST00000375341.3:c.1561G>T	1.37:g.19200975C>A	ENSP00000364490:p.Gly521Trp					RP13-279N23.2_ENST00000494072.3_3'UTR|ALDH4A1_ENST00000290597.5_Missense_Mutation_p.G521W|ALDH4A1_ENST00000538839.1_Missense_Mutation_p.G470W|ALDH4A1_ENST00000538309.1_Missense_Mutation_p.G461W	p.G521W	NM_003748.3	NP_003739.2	P30038	AL4A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	14	1818	-		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	521					A8K1Q7|B4DGE4|D2D4A3|Q16882|Q53HU4|Q5JNV6|Q8IZ38|Q96IF0|Q9UDI6	Missense_Mutation	SNP	ENST00000375341.3	37	c.1561G>T	CCDS188.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.676403	0.88445	.	.	ENSG00000159423	ENST00000290597;ENST00000375341;ENST00000538839;ENST00000538309	T;T;T;T	0.53423	0.62;0.62;0.62;0.62	5.42	5.42	0.78866	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	T	0.81635	0.4864	H	0.98918	4.37	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88965	0.3396	10	0.87932	D	0	-38.9277	15.9436	0.79776	0.0:1.0:0.0:0.0	.	521	P30038	AL4A1_HUMAN	W	521;521;470;461	ENSP00000290597:G521W;ENSP00000364490:G521W;ENSP00000446071:G470W;ENSP00000442988:G461W	ENSP00000290597:G521W	G	-	1	0	ALDH4A1	19073562	1.000000	0.71417	0.958000	0.39756	0.943000	0.58893	7.491000	0.81471	2.539000	0.85634	0.561000	0.74099	GGG		0.612	ALDH4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006954.1			8	92	1	0	1.06961e-07	1	1.22463e-07	8	92				
LYPLA2	11313	broad.mit.edu	37	1	24121215	24121218	+	Frame_Shift_Del	DEL	CTGT	CTGT	-			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr1:24121215_24121218delCTGT	ENST00000374514.3	+	10	996_999	c.689_692delCTGT	c.(688-693)cctgtcfs	p.PV230fs	LYPLA2_ENST00000374501.1_Frame_Shift_Del_p.PV163fs|LYPLA2_ENST00000374503.3_3'UTR|LYPLA2_ENST00000374502.3_3'UTR|LYPLA2_ENST00000400061.1_3'UTR|LYPLA2_ENST00000495365.1_3'UTR|LYPLA2_ENST00000374505.2_3'UTR	NM_007260.2	NP_009191.1	O95372	LYPA2_HUMAN	lysophospholipase II	230					fatty acid metabolic process (GO:0006631)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	hydrolase activity (GO:0016787)			endometrium(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;1.79e-24)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;4.22e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)		CTGCTGCCTCCTGTCTAACTAGTC	0.593																																						ENST00000374514.3																			0				endometrium(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8						c.(688-693)ccfs		lysophospholipase II																																				SO:0001589	frameshift_variant	11313				fatty acid metabolic process	cytoplasm	hydrolase activity	g.chr1:24121215_24121218delCTGT	AF098668	CCDS241.1	1p36.11	2008-08-08			ENSG00000011009	ENSG00000011009	3.1.1.5		6738	protein-coding gene	gene with protein product							Standard	NM_007260		Approved	APT-2	uc001bht.3	O95372	OTTHUMG00000002961	ENST00000374514.3:c.689_692delCTGT	1.37:g.24121215_24121218delCTGT	ENSP00000363638:p.Pro230fs					LYPLA2_ENST00000374505.2_3'UTR|LYPLA2_ENST00000374503.3_3'UTR|LYPLA2_ENST00000495365.1_3'UTR|LYPLA2_ENST00000374501.1_Frame_Shift_Del_p.PV163fs|LYPLA2_ENST00000400061.1_3'UTR|LYPLA2_ENST00000374502.3_3'UTR	p.PV230fs	NM_007260.2	NP_009191.1	O95372	LYPA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;1.79e-24)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;4.22e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)	10	996_999	+		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	230					Q7Z4Z2	Frame_Shift_Del	DEL	ENST00000374514.3	37	c.689_692delCTGT	CCDS241.1																																																																																				0.593	LYPLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008245.1			8	24						8	24	---	---	---	---
SDHAP1	255812	broad.mit.edu	37	3	195713385	195713386	+	RNA	INS	-	-	T	rs199843390		TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr3:195713385_195713386insT	ENST00000427841.1	-	0	176					NR_003264.2				succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1																		AAAGCATGAACTTACGGAATCT	0.401																																					Ovarian(67;1158 1227 12109 20189 43170)	ENST00000427841.1																			0																																																			0							g.chr3:195713385_195713386insT	BC071730		3q29	2009-12-02	2006-11-21	2009-12-02	ENSG00000185485	ENSG00000185485			32455	pseudogene	pseudogene			"""succinate dehydrogenase complex, subunit A, flavoprotein-like 1"""	SDHAL1, SDHALP1			Standard	NR_003264		Approved		uc003fvy.3		OTTHUMG00000155716		3.37:g.195713387_195713387dupT								NR_003264.2						0	176	-									RNA	INS	ENST00000427841.1	37																																																																																						0.401	SDHAP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341367.1			7	9						7	9	---	---	---	---
DSP	1832	broad.mit.edu	37	6	7581043	7581043	+	Frame_Shift_Del	DEL	C	C	-			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr6:7581043delC	ENST00000379802.3	+	23	4961	c.4620delC	c.(4618-4620)atcfs	p.I1540fs	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1540	Central fibrous rod domain.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GCCTGAGGATCGACTATGAAA	0.502																																						ENST00000379802.3																			0				biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101						c.(4618-4620)atfs		desmoplakin							115.0	117.0	116.0					6																	7581043		2203	4300	6503	SO:0001589	frameshift_variant	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7581043delC	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.4620delC	6.37:g.7581043delC	ENSP00000369129:p.Ile1540fs					DSP_ENST00000418664.2_Intron	p.I1540fs	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	23	4961	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	1540			Central fibrous rod domain.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Frame_Shift_Del	DEL	ENST00000379802.3	37	c.4620delC	CCDS4501.1																																																																																				0.502	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		66	177						66	177	---	---	---	---
C6orf223	221416	broad.mit.edu	37	6	43970504	43970509	+	In_Frame_Del	DEL	GCGGCG	GCGGCG	-	rs571541469		TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr6:43970504_43970509delGCGGCG	ENST00000336600.5	+	4	390_395	c.370_375delGCGGCG	c.(370-375)gcggcgdel	p.AA130del	C6orf223_ENST00000439969.2_3'UTR|C6orf223_ENST00000448947.2_3'UTR|C6orf223_ENST00000442114.2_In_Frame_Del_p.AA110del|RP5-1120P11.1_ENST00000607590.1_RNA|RP5-1120P11.1_ENST00000422059.1_RNA	NM_001171992.1|NM_153246.4	NP_001165463.1|NP_694978.2	Q8N319	CF223_HUMAN	chromosome 6 open reading frame 223	130	Ala-rich.									central_nervous_system(1)|lung(2)|pancreas(1)|prostate(1)|urinary_tract(1)	6	all_cancers(18;2.28e-07)|all_epithelial(2;1.62e-08)|Lung NSC(15;0.000172)|all_lung(25;0.000533)|Hepatocellular(11;0.00309)|Ovarian(13;0.0437)		all cancers(41;0.00141)|Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.217)			GGTAGAGCGCgcggcggcggcggcgg	0.772																																						ENST00000336600.5																			0				central_nervous_system(1)|lung(2)|pancreas(1)|prostate(1)|urinary_tract(1)	6						c.(370-375)del		chromosome 6 open reading frame 223																																				SO:0001651	inframe_deletion	221416							g.chr6:43970504_43970509delGCGGCG	BC032706	CCDS34459.1, CCDS55016.1	6p21.1	2012-09-05			ENSG00000181577	ENSG00000181577			28692	protein-coding gene	gene with protein product						12477932	Standard	NM_153246		Approved	MGC45491	uc003own.3	Q8N319	OTTHUMG00000014753	ENST00000336600.5:c.370_375delGCGGCG	6.37:g.43970510_43970515delGCGGCG	ENSP00000426159:p.Ala130_Ala131del					RP5-1120P11.1_ENST00000422059.1_RNA|RP5-1120P11.1_ENST00000607590.1_RNA|C6orf223_ENST00000448947.2_3'UTR|C6orf223_ENST00000439969.2_3'UTR	p.AA130del	NM_001171992.1|NM_153246.4	NP_001165463.1|NP_694978.2	Q8N319	CF223_HUMAN	all cancers(41;0.00141)|Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.217)		4	390_395	+	all_cancers(18;2.28e-07)|all_epithelial(2;1.62e-08)|Lung NSC(15;0.000172)|all_lung(25;0.000533)|Hepatocellular(11;0.00309)|Ovarian(13;0.0437)		130			Ala-rich.		E9PB59|Q8N575	In_Frame_Del	DEL	ENST00000336600.5	37	c.370_375delGCGGCG	CCDS34459.1																																																																																				0.772	C6orf223-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040702.3	NM_153246		13	15						13	15	---	---	---	---
SMAP1	60682	broad.mit.edu	37	6	71508370	71508370	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr6:71508370delA	ENST00000370455.3	+	6	754	c.506delA	c.(505-507)gaafs	p.E169fs	SMAP1_ENST00000316999.5_Frame_Shift_Del_p.E142fs|SMAP1_ENST00000370452.3_Frame_Shift_Del_p.E142fs	NM_001044305.1|NM_001281440.1	NP_001037770.1|NP_001268369.1	Q8IYB5	SMAP1_HUMAN	small ArfGAP 1	169					positive regulation of erythrocyte differentiation (GO:0045648)|regulation of ARF GTPase activity (GO:0032312)|regulation of clathrin-mediated endocytosis (GO:2000369)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.K145fs*48(1)		breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1)	15						aaagaaaaggaaaaaaaaaag	0.289																																						ENST00000370455.3																			1	Deletion - Frameshift(1)	p.K145fs*48(1)	prostate(1)	breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1)	15						c.(505-507)gafs		small ArfGAP 1							23.0	28.0	26.0					6																	71508370		2184	4254	6438	SO:0001589	frameshift_variant	60682				regulation of ARF GTPase activity	plasma membrane	ARF GTPase activator activity|zinc ion binding	g.chr6:71508370delA	AK023221	CCDS4973.1, CCDS43478.1, CCDS64459.1, CCDS75478.1	6q12-q13	2009-11-30	2008-09-05		ENSG00000112305	ENSG00000112305		"""ADP-ribosylation factor GTPase activating proteins"""	19651	protein-coding gene	gene with protein product		611372	"""stromal membrane-associated protein 1"", ""stromal membrane-associated GTPase-activating protein 1"""			9644265, 12119110	Standard	NM_001044305		Approved	FLJ13159, SMAP-1	uc003pfr.3	Q8IYB5	OTTHUMG00000014996	ENST00000370455.3:c.506delA	6.37:g.71508370delA	ENSP00000359484:p.Glu169fs					SMAP1_ENST00000370452.3_Frame_Shift_Del_p.E142fs|SMAP1_ENST00000316999.5_Frame_Shift_Del_p.E142fs	p.E169fs	NM_001044305.1	NP_001037770.1	Q8IYB5	SMAP1_HUMAN			6	754	+			169					Q53H70|Q5SYQ2|Q6PK24|Q8NDH4|Q96L38|Q96L39|Q9H8X4	Frame_Shift_Del	DEL	ENST00000370455.3	37	c.506delA	CCDS43478.1																																																																																				0.289	SMAP1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041149.1	NM_001044305		2	4						2	4	---	---	---	---
RP11-764K9.1	0	broad.mit.edu	37	9	68398095	68398095	+	lincRNA	DEL	C	C	-	rs74487823		TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr9:68398095delC	ENST00000417843.2	-	0	2660																											CCATGCTTAGCTTGGGTTTCT	0.353																																						ENST00000417843.2																			0																																																			0							g.chr9:68398095delC																													9.37:g.68398095delC														0	2660	-									RNA	DEL	ENST00000417843.2	37																																																																																						0.353	RP11-764K9.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000129817.2			3	6						3	6	---	---	---	---
ZNF219	51222	broad.mit.edu	37	14	21560753	21560758	+	In_Frame_Del	DEL	GAGGCT	GAGGCT	-	rs71794845|rs11278664|rs3841049	byFrequency	TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr14:21560753_21560758delGAGGCT	ENST00000360947.3	-	3	1109_1114	c.698_703delAGCCTC	c.(697-705)cagcctcca>cca	p.QP233del	RP11-998D10.7_ENST00000554733.2_lincRNA|ZNF219_ENST00000451119.2_In_Frame_Del_p.QP233del|ZNF219_ENST00000556101.1_5'Flank|ZNF219_ENST00000421093.2_In_Frame_Del_p.QP233del	NM_016423.2	NP_057507.2	Q9P2Y4	ZN219_HUMAN	zinc finger protein 219	233				Missing (in Ref. 4; AAH00694). {ECO:0000305}.	negative regulation of transcription, DNA-templated (GO:0045892)|regulation of neurotransmitter levels (GO:0001505)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histamine receptor activity (GO:0004969)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q233_P234delQP(3)		breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(2)	8	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;9.86e-11)|Epithelial(56;1.27e-08)|all cancers(55;6.06e-08)	GBM - Glioblastoma multiforme(265;0.0191)		ggctggggtggaggctgaggctgagg	0.743											OREG0022565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		1230	0.245607	0.2549	0.3775	5008	,	,		14407	0.125		0.1879	False		,,,				2504	0.3231					ENST00000360947.3																			3	Deletion - In frame(3)	p.Q233_P234delQP(3)	large_intestine(1)|prostate(1)|breast(1)	breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(2)	8						c.(697-705)cca>c		zinc finger protein 219			,,	821,2789		238,345,1222					,,	2.7	1.0		dbSNP_107	4	1173,6075		279,615,2730	no	coding,coding,coding	ZNF219	NM_016423.2,NM_001102454.1,NM_001101672.1	,,	517,960,3952	A1A1,A1R,RR		16.1838,22.7424,18.3643	,,	,,		1994,8864				SO:0001651	inframe_deletion	0				negative regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|histamine receptor activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:21560753_21560758delGAGGCT	AB015427	CCDS9568.1	14q11	2013-01-08			ENSG00000165804	ENSG00000165804		"""Zinc fingers, C2H2-type"""	13011	protein-coding gene	gene with protein product		605036				10819330	Standard	NM_016423		Approved		uc001vzs.2	Q9P2Y4	OTTHUMG00000029647	ENST00000360947.3:c.698_703delAGCCTC	14.37:g.21560759_21560764delGAGGCT	ENSP00000354206:p.Gln233_Pro234del		OREG0022565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	749	ZNF219_ENST00000451119.2_In_Frame_Del_p.QPP233del|ZNF219_ENST00000421093.2_In_Frame_Del_p.QPP233del	p.QPP233del	NM_016423.2	NP_057507.2	Q9P2Y4	ZN219_HUMAN	OV - Ovarian serous cystadenocarcinoma(11;9.86e-11)|Epithelial(56;1.27e-08)|all cancers(55;6.06e-08)	GBM - Glioblastoma multiforme(265;0.0191)	3	1109_1114	-	all_cancers(95;0.00185)		233	Missing (in Ref. 3; AAH00694).				D3DS16|Q53Y57|Q8IYC1|Q9BW28	In_Frame_Del	DEL	ENST00000360947.3	37	c.698_703delAGCCTC	CCDS9568.1																																																																																				0.743	ZNF219-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073931.2			3	5						3	5	---	---	---	---
CSPG4P5	114817	broad.mit.edu	37	15	84958415	84958426	+	RNA	DEL	CGAGGACATTGG	CGAGGACATTGG	-	rs535146949|rs548644616|rs373234755	byFrequency	TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr15:84958415_84958426delCGAGGACATTGG	ENST00000558801.1	-	0	6303_6314									DNM1 pseudogene 51																		TCGGGCACCACGAGGACATTGGTGAGGACAGG	0.557														177	0.0353435	0.0015	0.0403	5008	,	,		20334	0.0198		0.0905	False		,,,				2504	0.0368					ENST00000558801.1																			0																																																			0							g.chr15:84958415_84958426delCGAGGACATTGG			15q25.2	2013-05-16			ENSG00000259297	ENSG00000235370			48500	pseudogene	pseudogene							Standard			Approved				OTTHUMG00000172438		15.37:g.84958415_84958426delCGAGGACATTGG														0	6303_6314	-									RNA	DEL	ENST00000558801.1	37																																																																																						0.557	DNM1P51-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000471721.1			6	0						6	0	---	---	---	---
IQGAP1	8826	broad.mit.edu	37	15	91019925	91019925	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr15:91019925delA	ENST00000268182.5	+	24	2939	c.2815delA	c.(2815-2817)aaafs	p.K940fs	IQGAP1_ENST00000560738.1_Frame_Shift_Del_p.K368fs	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	940					cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			AAAACTTACCAAAAAAAATAA	0.363																																						ENST00000268182.5																			0				breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(2815-2817)aafs		IQ motif containing GTPase activating protein 1							105.0	121.0	116.0					15																	91019925		2198	4298	6496	SO:0001589	frameshift_variant	8826				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity	g.chr15:91019925delA	D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"""RasGAP-like with IQ motifs"""	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.2815delA	15.37:g.91019925delA	ENSP00000268182:p.Lys940fs					IQGAP1_ENST00000560738.1_Frame_Shift_Del_p.K368fs	p.K940fs	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)		24	2939	+	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		940					A7MBM3	Frame_Shift_Del	DEL	ENST00000268182.5	37	c.2815delA	CCDS10362.1																																																																																				0.363	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313493.1	NM_003870		8	162						8	162	---	---	---	---
KRTAP4-1	85285	broad.mit.edu	37	17	39340796	39340852	+	In_Frame_Del	DEL	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	-	rs483929|rs543483191|rs79048996|rs1985673|rs2320229|rs483893|rs572749|rs543006020|rs71155126|rs554407371|rs2320230	byFrequency	TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr17:39340796_39340852delCGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	ENST00000398472.1	-	1	742_798	c.255_311delCCCACTCTGCTGTCAGACCACCTGCCACCCCAGCTGTGGTATGTCCAGCTGCTGCCG	c.(253-312)cgcccactctgctgtcagaccacctgccaccccagctgtggtatgtccagctgctgccgt>cgt	p.85_104RPLCCQTTCHPSCGMSSCCR>R				Q9BYQ7	KRA41_HUMAN	keratin associated protein 4-1	85	18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL].		Missing (in allele KAP4.10). {ECO:0000269|PubMed:15955084}.			keratin filament (GO:0045095)		p.H90_C108delHPSCGMSSCCRPLCCQTTC(2)|p.H94_C112delHPSCGMSSCCRPLCCQTTC(2)		kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			ACAGAGTGGACGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGGCGGCAGCAGC	0.646																																						ENST00000398472.1																			4	Deletion - In frame(4)	p.H90_C108delHPSCGMSSCCRPLCCQTTC(2)|p.H94_C112delHPSCGMSSCCRPLCCQTTC(2)	upper_aerodigestive_tract(2)|prostate(2)	kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5						c.(253-312)cgt>cg		keratin associated protein 4-1																																				SO:0001651	inframe_deletion	85285					keratin filament		g.chr17:39340796_39340852delCGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	AC006070		17q21.2	2013-06-25			ENSG00000198443	ENSG00000198443		"""Keratin associated proteins"""	18907	protein-coding gene	gene with protein product			"""keratin associated protein 4-10"""	KRTAP4-10		11279113	Standard	NM_033060		Approved	KAP4.1, KAP4.10	uc002hwe.4	Q9BYQ7	OTTHUMG00000132081	ENST00000398472.1:c.255_311delCCCACTCTGCTGTCAGACCACCTGCCACCCCAGCTGTGGTATGTCCAGCTGCTGCCG	17.37:g.39340796_39340852delCGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	ENSP00000381489:p.Arg85_Cys103del						p.RPLCCQTTCHPSCGMSSCCR85del			Q9BYQ7	KRA41_HUMAN	STAD - Stomach adenocarcinoma(17;0.000449)		1	742_798	-		Breast(137;0.000496)	85		Missing (in allele KAP4.10).	18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL].		A8MWS7|Q3SYF2	In_Frame_Del	DEL	ENST00000398472.1	37	c.255_311delCCCACTCTGCTGTCAGACCACCTGCCACCCCAGCTGTGGTATGTCCAGCTGCTGCCG																																																																																					0.646	KRTAP4-1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255108.1	NM_033060		9	381						9	381	---	---	---	---
ZFP36	7538	broad.mit.edu	37	19	39898948	39898950	+	In_Frame_Del	DEL	CAC	CAC	-			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr19:39898948_39898950delCAC	ENST00000248673.3	+	2	648_650	c.590_592delCAC	c.(589-594)tcacca>tca	p.P201del	ZFP36_ENST00000597629.1_In_Frame_Del_p.P207del|MIR4530_ENST00000581459.1_RNA	NM_003407.3	NP_003398.2	P26651	TTP_HUMAN	ZFP36 ring finger protein	201					3'-UTR-mediated mRNA stabilization (GO:0070935)|gene expression (GO:0010467)|intracellular signal transduction (GO:0035556)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|negative regulation of inflammatory response (GO:0050728)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of tumor necrosis factor production (GO:0032680)|response to starvation (GO:0042594)|RNA destabilization (GO:0050779)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|AU-rich element binding (GO:0017091)|C-C chemokine binding (GO:0019957)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|single-stranded RNA binding (GO:0003727)			large_intestine(1)|lung(5)|pancreas(1)	7	all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CGCCGGACCTCACCACCACCACC	0.685																																					NSCLC(67;1164 1324 12056 21056 30097)	ENST00000597629.1																			0				large_intestine(1)|lung(5)|pancreas(1)	7						c.(607-612)tca>t		ZFP36 ring finger protein				17,4235		5,7,2114						3.3	0.1			74	14,8216		2,10,4103	no	coding	ZFP36	NM_003407.2		7,17,6217	A1A1,A1R,RR		0.1701,0.3998,0.2484				31,12451				SO:0001651	inframe_deletion	7538				positive regulation of nuclear-transcribed mRNA poly(A) tail shortening	cytosol|nucleus	AU-rich element binding|DNA binding|mRNA binding|protein binding|single-stranded RNA binding|zinc ion binding	g.chr19:39898948_39898950delCAC	M63625	CCDS12534.1, CCDS12534.2	19q13.1	2012-11-27	2012-11-27			ENSG00000128016		"""RING-type (C3HC4) zinc fingers"""	12862	protein-coding gene	gene with protein product		190700	"""zinc finger protein 36, C3H type, homolog (mouse)"""			1699942	Standard	NM_003407		Approved	RNF162A, TIS11, G0S24, TTP, NUP475, tristetraprolin	uc002olh.2	P26651		ENST00000248673.3:c.590_592delCAC	19.37:g.39898957_39898959delCAC	ENSP00000248673:p.Pro201del					ZFP36_ENST00000248673.3_In_Frame_Del_p.SP197del	p.SP203del			P26651	TTP_HUMAN	Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)		2	682_684	+	all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512)		197					B2RA54	In_Frame_Del	DEL	ENST00000248673.3	37	c.608_610delCAC																																																																																					0.685	ZFP36-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding				10	1302						10	1302	---	---	---	---
CCDC155	147872	broad.mit.edu	37	19	49920659	49920659	+	Frame_Shift_Del	DEL	C	C	-			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr19:49920659delC	ENST00000447857.3	+	20	1786	c.1581delC	c.(1579-1581)gtcfs	p.V527fs		NM_144688.4	NP_653289.3	Q8N6L0	KASH5_HUMAN	coiled-coil domain containing 155	527						chromosome, telomeric region (GO:0000781)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	22						CAGCTCCTGTCCTGGGCctgc	0.652																																						ENST00000447857.3																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	22						c.(1579-1581)gtfs		coiled-coil domain containing 155							47.0	54.0	52.0					19																	49920659		2125	4218	6343	SO:0001589	frameshift_variant	147872					integral to membrane	calcium ion binding	g.chr19:49920659delC		CCDS46140.1	19q13.33	2014-01-21			ENSG00000161609	ENSG00000161609			26520	protein-coding gene	gene with protein product							Standard	NM_144688		Approved	FLJ32658, KASH5	uc002pnm.2	Q8N6L0	OTTHUMG00000183170	ENST00000447857.3:c.1581delC	19.37:g.49920659delC	ENSP00000404220:p.Val527fs						p.V527fs	NM_144688.4	NP_653289.3	Q8N6L0	CC155_HUMAN			20	1786	+			527					Q96MC3	Frame_Shift_Del	DEL	ENST00000447857.3	37	c.1581delC	CCDS46140.1																																																																																				0.652	CCDC155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465436.2	NM_144688		2	4						2	4	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11068846	11068846	+	RNA	DEL	G	G	-	rs140512265		TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr21:11068846delG	ENST00000470054.1	-	0	324							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		gaatgatgctggaactgccaa	0.289																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11068846delG	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11068846delG												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	324	-								A8K925|Q08ER0	RNA	DEL	ENST00000470054.1	37																																																																																						0.289	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		2	4						2	4	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11082601	11082603	+	RNA	DEL	CTC	CTC	-	rs200329845|rs58561925		TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr21:11082601_11082603delCTC	ENST00000470054.1	-	0	324							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AAGTTGTCTTCTCCTTCTGACAC	0.32																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11082601_11082603delCTC	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11082601_11082603delCTC												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	324	-								A8K925|Q08ER0	RNA	DEL	ENST00000470054.1	37																																																																																						0.320	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		2	4						2	4	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11088890	11088891	+	RNA	INS	-	-	A	rs76043060|rs112810513		TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr21:11088890_11088891insA	ENST00000470054.1	-	0	324							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GAAAAATATACAAAAAAAGTTT	0.292																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11088890_11088891insA	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11088897_11088897dupA												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	324	-								A8K925|Q08ER0	RNA	INS	ENST00000470054.1	37																																																																																						0.292	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		4	6						4	6	---	---	---	---
