#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
CEP170P1	645455	broad.mit.edu	37	4	119473413	119473413	+	RNA	SNP	A	A	G			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr4:119473413A>G	ENST00000412784.2	+	0	644					NR_003135.2		Q96L14	C170L_HUMAN	centrosomal protein 170kDa pseudogene 1								identical protein binding (GO:0042802)										TCTATCTTACAGGAACTGAAA	0.318																																						ENST00000412784.2																			0																																																			0							g.chr4:119473413A>G	BC014590		4q26	2010-10-11	2010-10-11	2010-10-11	ENSG00000154608	ENSG00000154608			28364	pseudogene	pseudogene			"""KIAA0470-like"", ""centrosomal protein 170kDa-like"""	KIAA0470L, CEP170L			Standard	NR_003135		Approved	MGC26143, FAM68B	uc003icb.3	Q96L14	OTTHUMG00000132958		4.37:g.119473413A>G								NR_003135.2						0	644	+									RNA	SNP	ENST00000412784.2	37																																																																																						0.318	CEP170P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000364033.2	NR_003135.2		6	10	0	0	0	1	0	6	10				
BTN2A3P	54718	broad.mit.edu	37	6	26422353	26422353	+	RNA	SNP	C	C	T	rs571530750	byFrequency	TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr6:26422353C>T	ENST00000466808.2	+	0	7							Q96KV6	BT2A3_HUMAN	butyrophilin, subfamily 2, member A3, pseudogene							integral component of membrane (GO:0016021)		p.P3S(2)									GCTCATGGAACCAGCTGCTGC	0.622													C|||	7	0.00139776	0.0023	0.0	5008	,	,		16376	0.001		0.0	False		,,,				2504	0.0031					ENST00000466808.2																			2	Substitution - Missense(2)	p.P3S(2)	endometrium(1)|kidney(1)																																																0							g.chr6:26422353C>T	AL021917		6p22.1	2014-01-14	2011-09-06	2011-09-06	ENSG00000124549	ENSG00000124549		"""Butyrophilins"""	13229	pseudogene	pseudogene		613592	"""butyrophilin, subfamily 2, member A3"""	BTN2A3			Standard	NR_027795		Approved	BTN2.3	uc011dkl.1	Q96KV6	OTTHUMG00000014453		6.37:g.26422353C>T														0	7	+								A6NEF4	RNA	SNP	ENST00000466808.2	37																																																																																						0.622	BTN2A3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000040118.4	NR_027795		6	270	0	0	0	1	0	6	270				
DNAH17	8632	broad.mit.edu	37	17	76570856	76570856	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr17:76570856C>T	ENST00000585328.1	-	2	408	c.284G>A	c.(283-285)cGg>cAg	p.R95Q	DNAH17_ENST00000389840.5_Missense_Mutation_p.R95Q	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	95	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GTAAAGGAGCCGGGCCCTGTA	0.597																																						ENST00000389840.5																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(283-285)cGg>cAg		dynein, axonemal, heavy chain 17							145.0	153.0	151.0					17																	76570856		2063	4203	6266	SO:0001583	missense	8632							g.chr17:76570856C>T	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.284G>A	17.37:g.76570856C>T	ENSP00000465516:p.Arg95Gln					DNAH17_ENST00000585328.1_Missense_Mutation_p.R95Q	p.R95Q					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		2	408	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37	c.284G>A		.	.	.	.	.	.	.	.	.	.	C	0.701	-0.790901	0.02884	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.21932	1.98	4.81	-8.46	0.00942	.	.	.	.	.	T	0.06690	0.0171	N	0.11927	0.2	0.09310	N	1	.	.	.	.	.	.	T	0.33879	-0.9851	7	0.11794	T	0.64	.	3.6043	0.08037	0.0864:0.2919:0.1709:0.4509	.	.	.	.	Q	95	ENSP00000374490:R95Q	ENSP00000300671:R95Q	R	-	2	0	DNAH17	74082451	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-6.008000	0.00086	-1.170000	0.02769	-0.244000	0.11960	CGG		0.597	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		5	161	0	0	0	1	0	5	161				
FAM86B3P	286042	broad.mit.edu	37	8	8096026	8096026	+	RNA	SNP	T	T	G	rs200485466		TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr8:8096026T>G	ENST00000310542.3	+	0	0				ALG1L13P_ENST00000523017.1_RNA					family with sequence similarity 86, member B3, pseudogene																		TGACCCCTGATGCATAGCCCT	0.667																																						ENST00000523017.1																			0																																																			0							g.chr8:8096026T>G			8p23.1	2013-06-10			ENSG00000173295	ENSG00000173295			44371	pseudogene	pseudogene							Standard	NR_024361		Approved		uc011kwt.2		OTTHUMG00000163669		8.37:g.8096026T>G														0	608	-									RNA	SNP	ENST00000310542.3	37																																																																																						0.667	FAM86B3P-005	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000448496.1			4	16	0	0	0	1	0	4	16				
PTPRT	11122	broad.mit.edu	37	20	40730876	40730876	+	Missense_Mutation	SNP	C	C	T	rs372862828		TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr20:40730876C>T	ENST00000373187.1	-	26	3601	c.3602G>A	c.(3601-3603)cGg>cAg	p.R1201Q	PTPRT_ENST00000373184.1_Missense_Mutation_p.R1211Q|PTPRT_ENST00000373193.3_Missense_Mutation_p.R1204Q|PTPRT_ENST00000356100.2_Missense_Mutation_p.R1210Q|PTPRT_ENST00000373190.1_Missense_Mutation_p.R1200Q|PTPRT_ENST00000373201.1_Missense_Mutation_p.R1191Q|PTPRT_ENST00000373198.4_Missense_Mutation_p.R1220Q			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1201	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				ATCATGGTTCCGGGGCAGGAG	0.557													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18488	0.0		0.0	False		,,,				2504	0.0					ENST00000373198.3																			0				NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176						c.(3667-3669)cGg>cAg		protein tyrosine phosphatase, receptor type, T		C	GLN/ARG,GLN/ARG	1,4255		0,1,2127	73.0	77.0	76.0		3602,3659	5.5	1.0	20		76	0,8508		0,0,4254	no	missense,missense	PTPRT	NM_007050.5,NM_133170.3	43,43	0,1,6381	TT,TC,CC		0.0,0.0235,0.0078	probably-damaging,probably-damaging	1201/1442,1220/1461	40730876	1,12763	2128	4254	6382	SO:0001583	missense	11122				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	g.chr20:40730876C>T	AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.3602G>A	20.37:g.40730876C>T	ENSP00000362283:p.Arg1201Gln					PTPRT_ENST00000373193.3_Missense_Mutation_p.R1204Q|PTPRT_ENST00000373201.1_Missense_Mutation_p.R1191Q|PTPRT_ENST00000373187.1_Missense_Mutation_p.R1201Q|PTPRT_ENST00000356100.2_Missense_Mutation_p.R1210Q|PTPRT_ENST00000373184.1_Missense_Mutation_p.R1211Q|PTPRT_ENST00000373190.1_Missense_Mutation_p.R1200Q	p.R1223Q	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN			27	3903	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	1201			Tyrosine-protein phosphatase 2.		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	ENST00000373187.1	37	c.3668G>A	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	C	35	5.567831	0.96540	2.35E-4	0.0	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.13538	2.58;2.58;2.58;2.58;2.58;2.58;2.58	5.48	5.48	0.80851	Protein-tyrosine phosphatase, receptor/non-receptor type (2);	0.000000	0.85682	D	0.000000	T	0.30978	0.0782	L	0.37697	1.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.995	T	0.01596	-1.1316	10	0.66056	D	0.02	.	19.354	0.94404	0.0:1.0:0.0:0.0	.	1223;1201	O14522-1;O14522	.;PTPRT_HUMAN	Q	1200;1201;1204;1210;1223;1211;1191	ENSP00000362286:R1200Q;ENSP00000362283:R1201Q;ENSP00000362289:R1204Q;ENSP00000348408:R1210Q;ENSP00000362294:R1223Q;ENSP00000362280:R1211Q;ENSP00000362297:R1191Q	ENSP00000348408:R1210Q	R	-	2	0	PTPRT	40164290	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.818000	0.86416	2.588000	0.87417	0.650000	0.86243	CGG		0.557	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1			37	81	0	0	0	1	0	37	81				
SRP19	6728	broad.mit.edu	37	5	112198213	112198213	+	Missense_Mutation	SNP	G	G	T	rs77541650		TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr5:112198213G>T	ENST00000505459.1	+	2	205	c.50G>T	c.(49-51)tGt>tTt	p.C17F	CTC-554D6.1_ENST00000520401.1_Missense_Mutation_p.L88F|SRP19_ENST00000282999.3_Missense_Mutation_p.C17F|CTC-487M23.8_ENST00000506997.1_Missense_Mutation_p.C17F|SRP19_ENST00000515463.1_Intron|CTC-487M23.8_ENST00000512790.1_3'UTR	NM_001204193.1|NM_003135.2	NP_001191122.1|NP_003126.1	P09132	SRP19_HUMAN	signal recognition particle 19kDa	17					cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|large_intestine(1)	3		all_cancers(142;0.00328)|all_epithelial(76;6.39e-05)|Prostate(80;0.00174)|Colorectal(10;0.00372)|Ovarian(225;0.156)		Epithelial(69;1.7e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.17e-08)|all cancers(49;3.96e-07)|Colorectal(14;0.0056)|COAD - Colon adenocarcinoma(37;0.0104)		AGGTTTATTTGTATCTATCCT	0.458																																						ENST00000505459.1																			0				breast(1)|cervix(1)|large_intestine(1)	3						c.(49-51)tGt>tTt		signal recognition particle 19kDa							55.0	56.0	56.0					5																	112198213		2202	4300	6502	SO:0001583	missense	6728				response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|mitochondrion|nucleolus|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding	g.chr5:112198213G>T		CCDS4108.1, CCDS56375.1, CCDS56376.1, CCDS75286.1	5q21-q22	2008-07-18	2002-08-29		ENSG00000153037	ENSG00000153037			11300	protein-coding gene	gene with protein product		182175	"""signal recognition particle 19kD"""			2460823	Standard	NM_003135		Approved		uc011cvu.2	P09132	OTTHUMG00000128805	ENST00000505459.1:c.50G>T	5.37:g.112198213G>T	ENSP00000424870:p.Cys17Phe					SRP19_ENST00000515463.1_Intron|SRP19_ENST00000512790.1_3'UTR|SRP19_ENST00000282999.3_Missense_Mutation_p.C17F|CTC-554D6.1_ENST00000520401.1_Missense_Mutation_p.L88F	p.C17F	NM_001204193.1|NM_003135.2	NP_001191122.1|NP_003126.1	P09132	SRP19_HUMAN		Epithelial(69;1.7e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.17e-08)|all cancers(49;3.96e-07)|Colorectal(14;0.0056)|COAD - Colon adenocarcinoma(37;0.0104)	2	205	+		all_cancers(142;0.00328)|all_epithelial(76;6.39e-05)|Prostate(80;0.00174)|Colorectal(10;0.00372)|Ovarian(225;0.156)	17					B2R4E9|D6RCQ5|Q05D77|Q96FG6	Missense_Mutation	SNP	ENST00000505459.1	37	c.50G>T	CCDS4108.1	.	.	.	.	.	.	.	.	.	.	G	18.41	3.617389	0.66672	.	.	ENSG00000153037	ENST00000505459;ENST00000282999	T;T	0.47528	0.84;0.84	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.54935	0.1889	M	0.86343	2.81	0.80722	D	1	P;B	0.37061	0.58;0.085	B;B	0.33690	0.168;0.063	T	0.64728	-0.6339	10	0.66056	D	0.02	-4.5168	16.395	0.83601	0.0:0.0:1.0:0.0	.	17;17	P09132;Q05D77	SRP19_HUMAN;.	F	17	ENSP00000424870:C17F;ENSP00000282999:C17F	ENSP00000282999:C17F	C	+	2	0	SRP19	112226112	1.000000	0.71417	0.997000	0.53966	0.975000	0.68041	7.803000	0.85983	2.680000	0.91292	0.655000	0.94253	TGT		0.458	SRP19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250737.3	NM_003135		4	35	1	0	0.00116845	1	0.00122356	4	35				
NCOR2	9612	broad.mit.edu	37	12	124887093	124887093	+	Silent	SNP	C	C	T			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr12:124887093C>T	ENST00000405201.1	-	14	1497	c.1497G>A	c.(1495-1497)caG>caA	p.Q499Q	NCOR2_ENST00000397355.1_Silent_p.Q499Q|NCOR2_ENST00000404621.1_Silent_p.Q498Q|NCOR2_ENST00000429285.2_Silent_p.Q498Q|NCOR2_ENST00000356219.3_Silent_p.Q499Q|NCOR2_ENST00000404121.2_Silent_p.Q69Q			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	499	Poly-Gln.				cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)	p.Q499Q(9)		breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		gctgctgctgctgttgttgct	0.617																																						ENST00000356219.3																			9	Substitution - coding silent(9)	p.Q499Q(9)	endometrium(4)|large_intestine(3)|kidney(2)	breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(1495-1497)caG>caA		nuclear receptor corepressor 2							9.0	10.0	10.0					12																	124887093		2051	4183	6234	SO:0001819	synonymous_variant	9612				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	g.chr12:124887093C>T	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.1497G>A	12.37:g.124887093C>T						NCOR2_ENST00000405201.1_Silent_p.Q499Q|NCOR2_ENST00000404121.2_Silent_p.Q69Q|NCOR2_ENST00000404621.1_Silent_p.Q498Q|NCOR2_ENST00000429285.2_Silent_p.Q498Q|NCOR2_ENST00000397355.1_Silent_p.Q499Q	p.Q499Q	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN		Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)	15	1652	-	all_neural(191;0.0804)|Medulloblastoma(191;0.163)		499			Poly-Gln.		O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Silent	SNP	ENST00000405201.1	37	c.1497G>A	CCDS41858.2																																																																																				0.617	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312		3	30	0	0	0	1	0	3	30				
DLC1	10395	broad.mit.edu	37	8	12957624	12957624	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr8:12957624C>G	ENST00000276297.4	-	9	2631	c.2222G>C	c.(2221-2223)aGc>aCc	p.S741T	DLC1_ENST00000512044.2_Missense_Mutation_p.S338T|DLC1_ENST00000358919.2_Missense_Mutation_p.S304T|DLC1_ENST00000520226.1_Missense_Mutation_p.S230T	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	741	Focal adhesion-targeting (FAT).|Poly-Ser.				actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						GCTGCTGCTGCTGGTCTGCGT	0.627																																						ENST00000276297.4																			0				NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						c.(2221-2223)aGc>aCc		deleted in liver cancer 1							56.0	47.0	50.0					8																	12957624		2203	4300	6503	SO:0001583	missense	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:12957624C>G	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.2222G>C	8.37:g.12957624C>G	ENSP00000276297:p.Ser741Thr					DLC1_ENST00000358919.2_Missense_Mutation_p.S304T|DLC1_ENST00000512044.2_Missense_Mutation_p.S338T|DLC1_ENST00000520226.1_Missense_Mutation_p.S230T	p.S741T	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN			9	2631	-			741			Poly-Ser.		B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	ENST00000276297.4	37	c.2222G>C	CCDS5989.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.320479	0.81469	.	.	ENSG00000164741	ENST00000276297;ENST00000358919;ENST00000512044;ENST00000520226	T;T;T;T	0.07688	3.42;3.19;3.19;3.17	4.57	4.57	0.56435	.	0.000000	0.85682	D	0.000000	T	0.31979	0.0814	M	0.80422	2.495	0.80722	D	1	D;B;D	0.65815	0.995;0.103;0.99	P;B;D	0.72982	0.795;0.132;0.979	T	0.09975	-1.0650	10	0.66056	D	0.02	.	17.9274	0.88987	0.0:1.0:0.0:0.0	.	741;338;304	Q96QB1;E9PDZ8;Q96QB1-1	RHG07_HUMAN;.;.	T	741;304;338;230	ENSP00000276297:S741T;ENSP00000351797:S304T;ENSP00000422595:S338T;ENSP00000428028:S230T	ENSP00000276297:S741T	S	-	2	0	DLC1	13001995	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.462000	0.80851	2.527000	0.85204	0.561000	0.74099	AGC		0.627	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		5	96	0	0	0	1	0	5	96				
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418																																						ENST00000430580.2																			0											c.e6+1		neuroblastoma breakpoint family, member 1																																				SO:0001630	splice_region_variant	55672					cytoplasm		g.chr1:16918653C>T	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.34+1G>A	1.37:g.16918653C>T								NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	6	853	-								Q8N4E8|Q9C0H0	Splice_Site	SNP	ENST00000430580.2	37																																																																																						0.418	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940	Intron	5	97	0	0	0	1	0	5	97				
KRTAP19-6	337973	broad.mit.edu	37	21	31914007	31914007	+	Missense_Mutation	SNP	C	C	T	rs146590456	byFrequency	TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr21:31914007C>T	ENST00000334046.5	-	1	176	c.146G>A	c.(145-147)cGt>cAt	p.R49H		NM_181612.2	NP_853643.1	Q3LI70	KR196_HUMAN	keratin associated protein 19-6	49						intermediate filament (GO:0005882)		p.R49H(1)		breast(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	9						ATATCCTTCACGGCATGATGG	0.493																																						ENST00000334046.5																			1	Substitution - Missense(1)	p.R49H(1)	lung(1)	breast(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	9						c.(145-147)cGt>cAt		keratin associated protein 19-6		T	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	108.0	119.0	115.0		146	-1.2	0.0	21	dbSNP_134	115	0,8600		0,0,4300	no	missense	KRTAP19-6	NM_181612.2	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	49/59	31914007	1,13005	2203	4300	6503	SO:0001583	missense	337973					intermediate filament		g.chr21:31914007C>T	AP001708	CCDS13598.1	21q22.1	2010-09-30			ENSG00000186925	ENSG00000186925		"""Keratin associated proteins"""	18941	protein-coding gene	gene with protein product						12359730	Standard	NM_181612		Approved	KAP19.6	uc002yok.1	Q3LI70	OTTHUMG00000057779	ENST00000334046.5:c.146G>A	21.37:g.31914007C>T	ENSP00000375107:p.Arg49His						p.R49H	NM_181612.2	NP_853643.1	Q3LI70	KR196_HUMAN			1	176	-			49					Q3LI71	Missense_Mutation	SNP	ENST00000334046.5	37	c.146G>A	CCDS13598.1	.	.	.	.	.	.	.	.	.	.	c	8.758	0.922817	0.18056	2.27E-4	0.0	ENSG00000186925	ENST00000334046;ENST00000437381	T	0.09163	3.01	4.39	-1.21	0.09524	.	1.153980	0.07023	N	0.827077	T	0.07908	0.0198	.	.	.	0.09310	N	1	B	0.19200	0.034	B	0.08055	0.003	T	0.41305	-0.9516	9	0.87932	D	0	3.6947	5.0821	0.14663	0.0:0.4052:0.1729:0.4219	.	49	Q3LI70	KR196_HUMAN	H	49	ENSP00000375107:R49H	ENSP00000375107:R49H	R	-	2	0	KRTAP19-6	30835878	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.711000	0.00386	-0.097000	0.12307	-0.334000	0.08254	CGT		0.493	KRTAP19-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128231.4			133	161	0	0	0	1	0	133	161				
ARID5B	84159	broad.mit.edu	37	10	63852608	63852608	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr10:63852608G>C	ENST00000279873.7	+	10	3796	c.3386G>C	c.(3385-3387)gGa>gCa	p.G1129A	ARID5B_ENST00000309334.5_Missense_Mutation_p.G886A	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	1129					adipose tissue development (GO:0060612)|adrenal gland development (GO:0030325)|cell development (GO:0048468)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|fat pad development (GO:0060613)|female gonad development (GO:0008585)|fibroblast migration (GO:0010761)|kidney development (GO:0001822)|liver development (GO:0001889)|male gonad development (GO:0008584)|multicellular organism growth (GO:0035264)|muscle organ morphogenesis (GO:0048644)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					ATGCAAAGAGGAATTTTTACA	0.478																																						ENST00000279873.7																			0				NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44						c.(3385-3387)gGa>gCa		AT rich interactive domain 5B (MRF1-like)							114.0	117.0	116.0					10																	63852608		2203	4300	6503	SO:0001583	missense	84159				liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding	g.chr10:63852608G>C	M73837	CCDS31208.1, CCDS58082.1	10q11.22	2013-02-07			ENSG00000150347	ENSG00000150347		"""-"""	17362	protein-coding gene	gene with protein product		608538				11483573, 11478881	Standard	NM_032199		Approved	FLJ21150, MRF2	uc001jlt.2	Q14865	OTTHUMG00000018298	ENST00000279873.7:c.3386G>C	10.37:g.63852608G>C	ENSP00000279873:p.Gly1129Ala					ARID5B_ENST00000309334.5_Missense_Mutation_p.G886A	p.G1129A	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN			10	3796	+	Prostate(12;0.016)|all_hematologic(501;0.215)		1129					B4DLB3|Q05DG6|Q32Q59|Q5VST4|Q6NZ42|Q7Z3M4|Q8N421|Q9H786	Missense_Mutation	SNP	ENST00000279873.7	37	c.3386G>C	CCDS31208.1	.	.	.	.	.	.	.	.	.	.	G	13.83	2.353437	0.41700	.	.	ENSG00000150347	ENST00000279873;ENST00000309334	T;T	0.45668	0.91;0.89	5.72	5.72	0.89469	.	0.208557	0.49916	D	0.000129	T	0.33323	0.0859	L	0.51422	1.61	0.38091	D	0.936979	P	0.46395	0.877	B	0.38106	0.265	T	0.36016	-0.9765	10	0.51188	T	0.08	-15.4297	7.48	0.27400	0.1973:0.0:0.8027:0.0	.	1129	Q14865	ARI5B_HUMAN	A	1129;886	ENSP00000279873:G1129A;ENSP00000308862:G886A	ENSP00000279873:G1129A	G	+	2	0	ARID5B	63522614	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.236000	0.78154	2.702000	0.92279	0.655000	0.94253	GGA		0.478	ARID5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048233.1	XM_084482		6	143	0	0	0	1	0	6	143				
PDGFRB	5159	broad.mit.edu	37	5	149500558	149500558	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr5:149500558G>C	ENST00000261799.4	-	18	2948	c.2479C>G	c.(2479-2481)Ctg>Gtg	p.L827V		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	827	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adrenal gland development (GO:0030325)|aorta morphogenesis (GO:0035909)|cardiac myofibril assembly (GO:0055003)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in coronary angiogenesis (GO:0060981)|cell migration involved in vasculogenesis (GO:0035441)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glycosaminoglycan biosynthetic process (GO:0006024)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerular capillary formation (GO:0072277)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|metanephric mesenchymal cell migration (GO:0035789)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of chemotaxis (GO:0050921)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to estradiol (GO:0032355)|response to fluid shear stress (GO:0034405)|response to hydrogen peroxide (GO:0042542)|response to hyperoxia (GO:0055093)|response to retinoic acid (GO:0032526)|response to toxic substance (GO:0009636)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|smooth muscle cell chemotaxis (GO:0071670)|smooth muscle tissue development (GO:0048745)|tissue homeostasis (GO:0001894)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|platelet-derived growth factor-activated receptor activity (GO:0005017)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|vascular endothelial growth factor binding (GO:0038085)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTAGCCGCCAGGTCTCTGTGG	0.542			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""																																	ENST00000261799.4				Dom	yes		5	5q31-q32	5159	T	"""platelet-derived growth factor receptor, beta polypeptide"""			L	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""		"""MPD, AML, CMML, CML"""		0				breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75						c.(2479-2481)Ctg>Gtg		platelet-derived growth factor receptor, beta polypeptide	Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)						130.0	115.0	120.0					5																	149500558		2203	4300	6503	SO:0001583	missense	5159				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity	g.chr5:149500558G>C	M21616	CCDS4303.1	5q33.1	2013-01-29			ENSG00000113721	ENSG00000113721		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8804	protein-coding gene	gene with protein product		173410		PDGFR			Standard	XM_005268464		Approved	JTK12, CD140b, PDGFR1	uc003lro.3	P09619	OTTHUMG00000130053	ENST00000261799.4:c.2479C>G	5.37:g.149500558G>C	ENSP00000261799:p.Leu827Val						p.L827V	NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		18	2948	-		all_hematologic(541;0.224)	827			Protein kinase.		B5A957|Q8N5L4	Missense_Mutation	SNP	ENST00000261799.4	37	c.2479C>G	CCDS4303.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.408823	0.83340	.	.	ENSG00000113721	ENST00000261799;ENST00000544453	D	0.93712	-3.27	5.03	4.14	0.48551	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.400623	0.17842	N	0.160148	D	0.93167	0.7824	L	0.32530	0.975	0.53688	D	0.99997	D;D	0.69078	0.997;0.973	D;P	0.65140	0.932;0.728	D	0.91401	0.5143	10	0.41790	T	0.15	.	10.4316	0.44411	0.1528:0.0:0.8472:0.0	.	827;827	A8KAM8;P09619	.;PGFRB_HUMAN	V	827;497	ENSP00000261799:L827V	ENSP00000261799:L827V	L	-	1	2	PDGFRB	149480751	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.068000	0.50018	1.224000	0.43551	0.655000	0.94253	CTG		0.542	PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252332.1	NM_002609		35	46	0	0	0	1	0	35	46				
FDX1	2230	broad.mit.edu	37	11	110327746	110327746	+	Missense_Mutation	SNP	G	G	A	rs368983211		TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr11:110327746G>A	ENST00000260270.2	+	3	653	c.415G>A	c.(415-417)Gat>Aat	p.D139N		NM_004109.4	NP_004100.1	P10109	ADX_HUMAN	ferredoxin 1	139	2Fe-2S ferredoxin-type. {ECO:0000255|PROSITE-ProRule:PRU00465}.				cholesterol metabolic process (GO:0008203)|hormone biosynthetic process (GO:0042446)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|iron ion binding (GO:0005506)			lung(2)	2		all_cancers(61;1.59e-12)|all_epithelial(67;8.38e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;5.27e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0384)|Colorectal(284;0.228)	Mitotane(DB00648)	TGACATGCTCGATCTGGCATA	0.383																																						ENST00000260270.2																			0				lung(2)	2						c.(415-417)Gat>Aat		ferredoxin 1	Mitotane(DB00648)						209.0	186.0	194.0					11																	110327746		2201	4298	6499	SO:0001583	missense	2230				electron transport chain|transport	mitochondrial matrix	2 iron, 2 sulfur cluster binding|electron carrier activity|iron ion binding	g.chr11:110327746G>A	M23668	CCDS8344.1	11q22.3	2008-02-01			ENSG00000137714	ENSG00000137714			3638	protein-coding gene	gene with protein product	"""adrenodoxin"""	103260		FDX		2969697	Standard	NM_004109		Approved	ADX	uc001pkx.3	P10109	OTTHUMG00000166589	ENST00000260270.2:c.415G>A	11.37:g.110327746G>A	ENSP00000260270:p.Asp139Asn						p.D139N	NM_004109.4	NP_004100.1	P10109	ADX_HUMAN		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;5.27e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0384)|Colorectal(284;0.228)	3	653	+		all_cancers(61;1.59e-12)|all_epithelial(67;8.38e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)	139			2Fe-2S ferredoxin-type.		B0YJ14|Q53YD6	Missense_Mutation	SNP	ENST00000260270.2	37	c.415G>A	CCDS8344.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.446310	0.84101	.	.	ENSG00000137714	ENST00000260270	.	.	.	5.46	5.46	0.80206	Beta-grasp fold, ferredoxin-type (1);Ferredoxin (3);	0.000000	0.85682	D	0.000000	D	0.86644	0.5982	M	0.92970	3.365	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.89616	0.3845	9	0.87932	D	0	-25.3722	18.9153	0.92503	0.0:0.0:1.0:0.0	.	139	P10109	ADX_HUMAN	N	139	.	ENSP00000260270:D139N	D	+	1	0	FDX1	109832956	1.000000	0.71417	0.999000	0.59377	0.398000	0.30690	9.473000	0.97714	2.567000	0.86603	0.561000	0.74099	GAT		0.383	FDX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390590.1	NM_004109		10	80	0	0	0	1	0	10	80				
TRA2B	6434	broad.mit.edu	37	3	185643403	185643403	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr3:185643403C>G	ENST00000453386.2	-	3	457	c.182G>C	c.(181-183)aGa>aCa	p.R61T	TRA2B_ENST00000382191.4_5'UTR|TRA2B_ENST00000471134.1_5'Flank	NM_004593.2	NP_004584.1	P62995	TRA2B_HUMAN	transformer 2 beta homolog (Drosophila)	61	Arg/Ser-rich (RS1 domain).				mRNA splicing, via spliceosome (GO:0000398)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing, via transesterification reactions (GO:0000375)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	18						GGAGCTTCTTCTGGATCTAGA	0.458																																						ENST00000453386.2																			0				breast(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	18						c.(181-183)aGa>aCa		transformer 2 beta homolog (Drosophila)							90.0	89.0	89.0					3																	185643403		2203	4300	6503	SO:0001583	missense	6434				nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|protein binding|RNA binding	g.chr3:185643403C>G	AF057159	CCDS33905.1, CCDS58872.1	3q26.2-q27	2014-06-13	2009-02-27	2009-02-27	ENSG00000136527	ENSG00000136527		"""RNA binding motif (RRM) containing"""	10781	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 156"""	602719	"""splicing factor, arginine/serine-rich 10 (transformer 2 homolog, Drosophila)"""	SFRS10		9790768	Standard	NM_004593		Approved	Htra2-beta, PPP1R156	uc003fpv.3	P62995	OTTHUMG00000156641	ENST00000453386.2:c.182G>C	3.37:g.185643403C>G	ENSP00000416959:p.Arg61Thr					TRA2B_ENST00000382191.4_5'UTR	p.R61T	NM_004593.2	NP_004584.1	P62995	TRA2B_HUMAN			3	457	-			61			Arg/Ser-rich (RS1 domain).		B4DVK2|D3DNU3|O15449|Q15815|Q64283	Missense_Mutation	SNP	ENST00000453386.2	37	c.182G>C	CCDS33905.1	.	.	.	.	.	.	.	.	.	.	C	17.39	3.377079	0.61735	.	.	ENSG00000136527	ENST00000453386	T	0.26957	1.7	6.17	6.17	0.99709	.	0.097070	0.64402	D	0.000001	T	0.26955	0.0660	L	0.49778	1.585	0.80722	D	1	B;B	0.31655	0.334;0.334	B;B	0.32289	0.143;0.143	T	0.04593	-1.0940	10	0.10636	T	0.68	-7.0252	19.6509	0.95805	0.0:1.0:0.0:0.0	.	61;61	B2RDQ3;P62995	.;TRA2B_HUMAN	T	61	ENSP00000416959:R61T	ENSP00000416959:R61T	R	-	2	0	TRA2B	187126097	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.538000	0.60650	2.941000	0.99782	0.655000	0.94253	AGA		0.458	TRA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344984.1	NM_004593		11	67	0	0	0	1	0	11	67				
TIE1	7075	broad.mit.edu	37	1	43772665	43772665	+	Splice_Site	SNP	G	G	T	rs34084603	byFrequency	TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr1:43772665G>T	ENST00000372476.3	+	4	718	c.639G>T	c.(637-639)cgG>cgT	p.R213R	TIE1_ENST00000441333.2_Splice_Site_p.R213R|TIE1_ENST00000433781.2_5'Flank|TIE1_ENST00000538015.1_Splice_Site_p.R213R	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	213					angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TCATCGTGCGGGGTCAGAGGC	0.637																																						ENST00000372476.3																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70						c.e4+1		tyrosine kinase with immunoglobulin-like and EGF-like domains 1							40.0	46.0	44.0					1																	43772665		2203	4300	6503	SO:0001630	splice_region_variant	7075				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:43772665G>T	BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11809	protein-coding gene	gene with protein product		600222	"""tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"""	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.640+1G>T	1.37:g.43772665G>T						TIE1_ENST00000538015.1_Splice_Site_p.R213_splice|TIE1_ENST00000441333.2_Splice_Site_p.R213_splice	p.R213_splice	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN			4	718	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	213					B5A949|B5A950	Splice_Site	SNP	ENST00000372476.3	37	c.640_splice	CCDS482.1																																																																																				0.637	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019011.1	NM_005424	Silent	5	142	1	0	0.00116845	1	0.00122356	5	142				
TBC1D17	79735	broad.mit.edu	37	19	50384528	50384528	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr19:50384528C>G	ENST00000221543.5	+	5	622	c.323C>G	c.(322-324)gCa>gGa	p.A108G	TBC1D17_ENST00000535102.2_Missense_Mutation_p.A75G|AKT1S1_ENST00000482622.1_5'Flank|TBC1D17_ENST00000598789.1_Intron	NM_024682.2	NP_078958	Q9HA65	TBC17_HUMAN	TBC1 domain family, member 17	108					autophagy (GO:0006914)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	Rab GTPase activator activity (GO:0005097)			NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		TCCCTAGGTGCAGAGCCCAGC	0.632																																						ENST00000221543.5																			0				NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15						c.(322-324)gCa>gGa		TBC1 domain family, member 17							24.0	26.0	26.0					19																	50384528		2203	4299	6502	SO:0001583	missense	79735					intracellular	Rab GTPase activator activity	g.chr19:50384528C>G	AK090606	CCDS12785.1, CCDS54294.1	19q13.33	2013-07-09				ENSG00000104946			25699	protein-coding gene	gene with protein product						22854040	Standard	NM_024682		Approved	FLJ12168	uc002pqo.3	Q9HA65		ENST00000221543.5:c.323C>G	19.37:g.50384528C>G	ENSP00000221543:p.Ala108Gly					TBC1D17_ENST00000598789.1_Intron|TBC1D17_ENST00000535102.2_Missense_Mutation_p.A75G	p.A108G	NM_024682.2	NP_078958.2	Q9HA65	TBC17_HUMAN		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)	5	622	+		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)	108					B4DT12|B9A6L8|F5H1W7	Missense_Mutation	SNP	ENST00000221543.5	37	c.323C>G	CCDS12785.1	.	.	.	.	.	.	.	.	.	.	C	8.540	0.872982	0.17322	.	.	ENSG00000104946	ENST00000221543;ENST00000535102	T;T	0.33438	1.41;1.41	5.56	3.39	0.38822	Domain of unknown function DUF3548 (1);	0.678397	0.13713	N	0.367969	T	0.22781	0.0550	L	0.40543	1.245	0.30475	N	0.772914	B;B	0.06786	0.001;0.0	B;B	0.10450	0.003;0.005	T	0.20940	-1.0260	10	0.23302	T	0.38	-0.6742	7.1371	0.25535	0.169:0.7437:0.0:0.0873	.	75;108	F5H1W7;Q9HA65	.;TBC17_HUMAN	G	108;75	ENSP00000221543:A108G;ENSP00000446323:A75G	ENSP00000221543:A108G	A	+	2	0	TBC1D17	55076340	0.992000	0.36948	0.978000	0.43139	0.389000	0.30415	2.042000	0.41222	0.681000	0.31386	0.561000	0.74099	GCA		0.632	TBC1D17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466404.1	NM_024682		3	25	0	0	0	1	0	3	25				
VPS28	51160	broad.mit.edu	37	8	145649436	145649436	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr8:145649436G>A	ENST00000526054.1	-	8	573	c.536C>T	c.(535-537)aCg>aTg	p.T179M	VPS28_ENST00000292510.4_Missense_Mutation_p.T179M|VPS28_ENST00000526734.1_5'Flank|VPS28_ENST00000529182.1_Missense_Mutation_p.T179M|VPS28_ENST00000377348.2_Missense_Mutation_p.T179M			Q9UK41	VPS28_HUMAN	vacuolar protein sorting 28 homolog (S. cerevisiae)	179	VPS28 C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00642}.				endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|membrane organization (GO:0061024)|negative regulation of protein ubiquitination (GO:0031397)|protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			CTGGCTGACCGTCTGGCGGCC	0.692																																						ENST00000377348.2																			0				kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7						c.(535-537)aCg>aTg		vacuolar protein sorting 28 homolog (S. cerevisiae)							50.0	59.0	56.0					8																	145649436		2203	4299	6502	SO:0001583	missense	51160				cellular membrane organization|endosome transport|negative regulation of protein ubiquitination|protein transport	cytosol|late endosome membrane|plasma membrane	protein binding	g.chr8:145649436G>A	AF316887	CCDS6425.1, CCDS34967.1	8q24.3	2014-08-12	2006-04-04		ENSG00000160948	ENSG00000160948			18178	protein-coding gene	gene with protein product		611952	"""vacuolar protein sorting 28 (yeast)"""				Standard	NM_183057		Approved		uc003zct.1	Q9UK41	OTTHUMG00000165209	ENST00000526054.1:c.536C>T	8.37:g.145649436G>A	ENSP00000434064:p.Thr179Met					VPS28_ENST00000526054.1_Missense_Mutation_p.T179M|VPS28_ENST00000529182.1_Missense_Mutation_p.T179M|VPS28_ENST00000292510.4_Missense_Mutation_p.T179M	p.T179M	NM_183057.1	NP_898880.1	Q9UK41	VPS28_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)		9	625	-	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		179			VPS28 C-terminal.		Q86VK0	Missense_Mutation	SNP	ENST00000526054.1	37	c.536C>T	CCDS6425.1	.	.	.	.	.	.	.	.	.	.	g	17.17	3.321919	0.60634	.	.	ENSG00000160948	ENST00000529182;ENST00000526054;ENST00000292510;ENST00000377348;ENST00000533806	.	.	.	5.11	4.17	0.49024	Vacuolar protein sorting-associated, VPS28, C-terminal (1);	0.153629	0.56097	D	0.000031	T	0.50939	0.1645	L	0.34521	1.04	0.39841	D	0.973114	D;P	0.63880	0.993;0.794	P;B	0.53549	0.729;0.271	T	0.55560	-0.8122	9	0.87932	D	0	.	10.1217	0.42625	0.0:0.0:0.7082:0.2918	.	179;179	Q9UK41-2;Q9UK41	.;VPS28_HUMAN	M	179;179;179;179;162	.	ENSP00000292510:T179M	T	-	2	0	VPS28	145620244	1.000000	0.71417	0.760000	0.31359	0.802000	0.45316	5.766000	0.68843	2.661000	0.90470	0.609000	0.83330	ACG		0.692	VPS28-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382694.1			10	291	0	0	0	1	0	10	291				
CPSF3L	54973	broad.mit.edu	37	1	1248278	1248278	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr1:1248278C>T	ENST00000435064.1	-	12	1265	c.1183G>A	c.(1183-1185)Gcc>Acc	p.A395T	CPSF3L_ENST00000450926.2_Missense_Mutation_p.A373T|CPSF3L_ENST00000545578.1_Missense_Mutation_p.A366T|CPSF3L_ENST00000462432.1_5'UTR|CPSF3L_ENST00000411962.1_Missense_Mutation_p.A297T|CPSF3L_ENST00000540437.1_Missense_Mutation_p.A401T|CPSF3L_ENST00000419704.1_Missense_Mutation_p.A294T|CPSF3L_ENST00000421495.2_Missense_Mutation_p.A137T	NM_001256460.1|NM_017871.5	NP_001243389.1|NP_060341.2	Q5TA45	INT11_HUMAN	cleavage and polyadenylation specific factor 3-like	395					snRNA processing (GO:0016180)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|integrator complex (GO:0032039)	hydrolase activity (GO:0016787)			endometrium(4)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(3)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201)		ATGCCCTTGGCGTCCGCGTGT	0.617																																						ENST00000540437.1																			0				endometrium(4)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(3)	13						c.(1201-1203)Gcc>Acc		cleavage and polyadenylation specific factor 3-like							51.0	48.0	49.0					1																	1248278		2200	4297	6497	SO:0001583	missense	54973					Golgi apparatus|nucleus	hydrolase activity	g.chr1:1248278C>T	AL136813	CCDS21.1, CCDS57959.1, CCDS57960.1, CCDS57961.1, CCDS72678.1	1p36.33	2008-02-05			ENSG00000127054	ENSG00000127054			26052	protein-coding gene	gene with protein product	"""integrator complex subunit 11"""	611354				15684398, 16239144	Standard	NM_001256456		Approved	FLJ20542, RC-68, CPSF73L, INT11, INTS11	uc001aee.2	Q5TA45	OTTHUMG00000003330	ENST00000435064.1:c.1183G>A	1.37:g.1248278C>T	ENSP00000413493:p.Ala395Thr					CPSF3L_ENST00000411962.1_Missense_Mutation_p.A297T|CPSF3L_ENST00000462432.1_5'UTR|CPSF3L_ENST00000450926.2_Missense_Mutation_p.A373T|CPSF3L_ENST00000435064.1_Missense_Mutation_p.A395T|CPSF3L_ENST00000419704.1_Missense_Mutation_p.A294T|CPSF3L_ENST00000545578.1_Missense_Mutation_p.A366T|CPSF3L_ENST00000421495.2_Missense_Mutation_p.A137T	p.A401T	NM_001256456.1	NP_001243385.1	Q5TA45	INT11_HUMAN		Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201)	14	1656	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	395					A8K5S2|B3KPR3|B4DM87|G3V1S5|Q5TA46|Q5TA48|Q5TA52|Q5TA53|Q5TA54|Q7L3D7|Q96HY1|Q9BW36|Q9H0F9|Q9H8R5|Q9HAA6|Q9NWX9	Missense_Mutation	SNP	ENST00000435064.1	37	c.1201G>A	CCDS21.1	.	.	.	.	.	.	.	.	.	.	C	32	5.118542	0.94385	.	.	ENSG00000127054	ENST00000435064;ENST00000411962;ENST00000294579;ENST00000419704;ENST00000540437;ENST00000450926;ENST00000545578	T;T;T;T;T	0.46063	0.95;0.95;0.95;0.95;0.88	5.4	5.4	0.78164	RNA-metabolising metallo-beta-lactamase (1);	0.000000	0.85682	D	0.000000	T	0.69378	0.3104	M	0.89030	3	0.80722	D	1	D;D;D;D;D;D	0.71674	0.985;0.996;0.998;0.997;0.985;0.988	P;P;P;P;P;P	0.62491	0.743;0.889;0.903;0.897;0.743;0.833	T	0.75825	-0.3181	10	0.66056	D	0.02	-41.7598	19.1408	0.93445	0.0:1.0:0.0:0.0	.	373;366;297;294;401;395	Q5TA45-3;B4DM87;C9IYS7;Q5TA45-2;G3V1S5;Q5TA45	.;.;.;.;.;INT11_HUMAN	T	395;297;288;294;401;373;366	ENSP00000413493:A395T;ENSP00000404886:A294T;ENSP00000445001:A401T;ENSP00000392848:A373T;ENSP00000444672:A366T	ENSP00000294579:A288T	A	-	1	0	CPSF3L	1238141	1.000000	0.71417	0.983000	0.44433	0.564000	0.35744	5.294000	0.65687	2.529000	0.85273	0.563000	0.77884	GCC		0.617	CPSF3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009360.2	NM_017871		50	51	0	0	0	1	0	50	51				
MUC21	394263	broad.mit.edu	37	6	30954710	30954710	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr6:30954710G>A	ENST00000376296.3	+	2	999	c.758G>A	c.(757-759)gGc>gAc	p.G253D	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	253	28 X 15 AA approximate tandem repeats.|Ser-rich.		G -> S (in dbSNP:rs41288655). {ECO:0000269|PubMed:12975309, ECO:0000269|PubMed:14574404}.		cellular protein metabolic process (GO:0044267)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-substrate adhesion (GO:0010812)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G253D(1)		NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						AGTGGGGCCGGCACAGCCACC	0.637																																						ENST00000376296.3																			1	Substitution - Missense(1)	p.G253D(1)	large_intestine(1)	NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						c.(757-759)gGc>gAc		mucin 21, cell surface associated							136.0	139.0	138.0					6																	30954710		2203	4300	6503	SO:0001583	missense	394263					integral to membrane|plasma membrane		g.chr6:30954710G>A	AK056612	CCDS34388.1	6p21.33	2008-05-14	2008-05-14	2008-05-14	ENSG00000204544	ENSG00000204544		"""Mucins"""	21661	protein-coding gene	gene with protein product	"""epiglycanin"""		"""chromosome 6 open reading frame 205"""	C6orf205		17977904	Standard	NM_001010909		Approved	bCX31G15.2	uc003nsh.2	Q5SSG8	OTTHUMG00000031216	ENST00000376296.3:c.758G>A	6.37:g.30954710G>A	ENSP00000365473:p.Gly253Asp					MUC21_ENST00000486149.2_5'UTR	p.G253D	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN			2	999	+			253		G -> S (in dbSNP:rs41288655).	28 X 15 AA approximate tandem repeats.|Ser-rich.		B0UZT7|B4DQ55|C9JMK2|D9N007|Q0VGF1|Q3B7T2|Q5SS94|Q6UXC5	Missense_Mutation	SNP	ENST00000376296.3	37	c.758G>A	CCDS34388.1	.	.	.	.	.	.	.	.	.	.	G	10.83	1.462611	0.26248	.	.	ENSG00000204544	ENST00000376296	T	0.01767	4.65	4.3	0.0583	0.14327	.	.	.	.	.	T	0.00300	0.0009	N	0.08118	0	0.09310	N	1	B	0.26708	0.157	B	0.21917	0.037	T	0.38499	-0.9658	8	.	.	.	.	2.1953	0.03909	0.0974:0.2655:0.3359:0.3012	.	253	Q5SSG8	MUC21_HUMAN	D	253	ENSP00000365473:G253D	.	G	+	2	0	MUC21	31062689	0.000000	0.05858	0.001000	0.08648	0.075000	0.17131	-0.909000	0.04058	0.174000	0.19809	0.491000	0.48974	GGC		0.637	MUC21-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000128579.3	NM_001010909		9	1505	0	0	0	1	0	9	1505				
TP53	7157	broad.mit.edu	37	17	7577550	7577550	+	Missense_Mutation	SNP	C	C	T	rs397516437		TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr17:7577550C>T	ENST00000269305.4	-	7	920	c.731G>A	c.(730-732)gGc>gAc	p.G244D	TP53_ENST00000455263.2_Missense_Mutation_p.G244D|TP53_ENST00000420246.2_Missense_Mutation_p.G244D|TP53_ENST00000359597.4_Missense_Mutation_p.G244D|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Missense_Mutation_p.G244D|TP53_ENST00000445888.2_Missense_Mutation_p.G244D	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	244	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934572).|G -> E (in a sporadic cancer; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in sporadic cancers; somatic mutation).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).|MG -> IC (in a sporadic cancer; somatic mutation).|MG -> IS (in a sporadic cancer; 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.G244D(47)|p.G244V(14)|p.G244A(9)|p.0?(8)|p.?(5)|p.G151D(4)|p.G244fs*4(3)|p.G244_M246>V(3)|p.G244fs*19(1)|p.G151_M153>V(1)|p.G244fs*17(1)|p.M243fs*18(1)|p.G244E(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.C242_M246>L(1)|p.G244del(1)|p.G151fs*4(1)|p.C238_M246delCNSSCMGGM(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)	GTTCATGCCGCCCATGCAGGA	0.577		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"""		104	Substitution - Missense(75)|Whole gene deletion(8)|Complex - deletion inframe(5)|Unknown(5)|Insertion - Frameshift(4)|Deletion - Frameshift(4)|Deletion - In frame(3)	p.G244D(47)|p.G244V(14)|p.G244A(9)|p.0?(8)|p.?(5)|p.G151D(4)|p.G244fs*4(3)|p.G244_M246>V(3)|p.G244fs*19(1)|p.G151_M153>V(1)|p.G244fs*17(1)|p.M243fs*18(1)|p.G244E(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.C242_M246>L(1)|p.G244del(1)|p.G151fs*4(1)|p.C238_M246delCNSSCMGGM(1)	large_intestine(21)|liver(16)|haematopoietic_and_lymphoid_tissue(9)|ovary(9)|stomach(7)|breast(7)|lung(7)|biliary_tract(6)|upper_aerodigestive_tract(4)|urinary_tract(4)|bone(4)|central_nervous_system(3)|oesophagus(2)|cervix(1)|vulva(1)|endometrium(1)|salivary_gland(1)|prostate(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	CM056069|CM070298	TP53	M	rs28934572	c.(730-732)gGc>gAc	Other conserved DNA damage response genes	tumor protein p53							148.0	111.0	124.0					17																	7577550		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.chr17:7577550C>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.731G>A	17.37:g.7577550C>T	ENSP00000269305:p.Gly244Asp	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_ENST00000269305.4_Missense_Mutation_p.G244D|TP53_ENST00000413465.2_Missense_Mutation_p.G244D|TP53_ENST00000455263.2_Missense_Mutation_p.G244D|TP53_ENST00000445888.2_Missense_Mutation_p.G244D|TP53_ENST00000359597.4_Missense_Mutation_p.G244D	p.G244D	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	863	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	244		G -> A (in sporadic cancers; somatic mutation).|G -> C (in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934572).|G -> E (in a sporadic cancer; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in sporadic cancers; somatic mutation).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).|MG -> IC (in a sporadic cancer; somatic mutation).|MG -> IS (in a sporadic cancer; 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.731G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.842901	0.91197	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99900	-7.62;-7.62;-7.62;-7.62;-7.62;-7.62;-7.62;-7.62	4.62	4.62	0.57501	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99894	0.9949	M	0.90759	3.145	0.80722	D	1	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;0.997;1.0;1.0;1.0;1.0	D	0.96044	0.9026	10	0.87932	D	0	-29.0146	15.3618	0.74483	0.0:1.0:0.0:0.0	rs28934572	244;244;151;244;244;244	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	D	244;244;244;244;244;244;233;151;112;151	ENSP00000410739:G244D;ENSP00000352610:G244D;ENSP00000269305:G244D;ENSP00000398846:G244D;ENSP00000391127:G244D;ENSP00000391478:G244D;ENSP00000425104:G112D;ENSP00000423862:G151D	ENSP00000269305:G244D	G	-	2	0	TP53	7518275	1.000000	0.71417	0.965000	0.40720	0.979000	0.70002	7.609000	0.82925	2.564000	0.86499	0.462000	0.41574	GGC		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		54	2	0	0	0	1	0	54	2				
USH2A	7399	broad.mit.edu	37	1	215823955	215823955	+	Missense_Mutation	SNP	G	G	C	rs147037435	byFrequency	TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr1:215823955G>C	ENST00000307340.3	-	65	14708	c.14322C>G	c.(14320-14322)agC>agG	p.S4774R	USH2A_ENST00000366943.2_Missense_Mutation_p.S4774R	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4774	Fibronectin type-III 33. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CCCCATGGGCGCTGCTGGAGA	0.483										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(14320-14322)agC>agG		Usher syndrome 2A (autosomal recessive, mild)							74.0	74.0	74.0					1																	215823955		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215823955G>C	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.14322C>G	1.37:g.215823955G>C	ENSP00000305941:p.Ser4774Arg	HNSCC(13;0.011)				USH2A_ENST00000307340.3_Missense_Mutation_p.S4774R	p.S4774R			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	65	14708	-			4774			Fibronectin type-III 33.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.14322C>G	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	8.430	0.848431	0.17034	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.53206	0.63;0.63	5.27	0.151	0.14888	Fibronectin, type III (3);Immunoglobulin-like fold (1);	2.140360	0.02731	U	0.115089	T	0.35307	0.0927	N	0.26042	0.785	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.15665	-1.0429	10	0.17369	T	0.5	.	9.3675	0.38234	0.5308:0.0:0.4692:0.0	.	4774	O75445	USH2A_HUMAN	R	4774	ENSP00000305941:S4774R;ENSP00000355910:S4774R	ENSP00000305941:S4774R	S	-	3	2	USH2A	213890578	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	0.265000	0.18515	-0.005000	0.14395	-0.126000	0.14955	AGC		0.483	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		5	155	0	0	0	1	0	5	155				
KRT72	140807	broad.mit.edu	37	12	52985408	52985408	+	Missense_Mutation	SNP	A	A	C			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr12:52985408A>C	ENST00000537672.2	-	5	813	c.803T>G	c.(802-804)aTc>aGc	p.I268S	KRT72_ENST00000398066.3_Missense_Mutation_p.I80S|KRT72_ENST00000293745.2_Missense_Mutation_p.I268S|KRT72_ENST00000354310.4_Missense_Mutation_p.I268S	NM_001146225.1	NP_001139697.1	Q14CN4	K2C72_HUMAN	keratin 72	268	Coil 1B.|Rod.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		GATCTGAGTGATCTCCTGGGG	0.577																																						ENST00000293745.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36						c.(802-804)aTc>aGc		keratin 72							128.0	112.0	117.0					12																	52985408		2203	4300	6503	SO:0001583	missense	140807					keratin filament	structural molecule activity	g.chr12:52985408A>C	AY033495	CCDS8833.1, CCDS53795.1	12q13.13	2013-06-25			ENSG00000170486	ENSG00000170486		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28932	protein-coding gene	gene with protein product		608246				12648212, 11703281, 16831889	Standard	NM_080747		Approved	K6IRS2, KRT6IRS2, KRT6, K6irs	uc001saq.2	Q14CN4	OTTHUMG00000169744	ENST00000537672.2:c.803T>G	12.37:g.52985408A>C	ENSP00000441160:p.Ile268Ser					KRT72_ENST00000354310.4_Missense_Mutation_p.I268S|KRT72_ENST00000398066.3_Missense_Mutation_p.I80S|KRT72_ENST00000537672.2_Missense_Mutation_p.I268S	p.I268S	NM_080747.2	NP_542785.1	Q14CN4	K2C72_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.195)	5	888	-			268			Coil 1B.|Rod.		B4DEI8|H9KV51|Q8NA87|Q8WWY9|Q8WWZ0	Missense_Mutation	SNP	ENST00000537672.2	37	c.803T>G	CCDS8833.1	.	.	.	.	.	.	.	.	.	.	A	14.93	2.681601	0.47991	.	.	ENSG00000170486	ENST00000537672;ENST00000293745;ENST00000354310;ENST00000398066	D;D;D;D	0.90900	-2.75;-2.75;-2.75;-2.75	4.33	4.33	0.51752	Filament (1);	0.000000	0.53938	D	0.000060	D	0.93455	0.7912	M	0.90705	3.14	0.46542	D	0.999097	B;B	0.27068	0.167;0.167	B;B	0.38327	0.271;0.271	D	0.93979	0.7256	10	0.87932	D	0	.	14.5624	0.68151	1.0:0.0:0.0:0.0	.	268;268	B4DEI8;Q14CN4	.;K2C72_HUMAN	S	268;268;268;80	ENSP00000441160:I268S;ENSP00000293745:I268S;ENSP00000346269:I268S;ENSP00000446151:I80S	ENSP00000293745:I268S	I	-	2	0	KRT72	51271675	1.000000	0.71417	0.942000	0.38095	0.470000	0.32858	8.905000	0.92613	2.192000	0.70111	0.533000	0.62120	ATC		0.577	KRT72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405693.1	NM_080747		14	88	0	0	0	1	0	14	88				
ABCA13	154664	broad.mit.edu	37	7	48494835	48494835	+	Missense_Mutation	SNP	T	T	G			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr7:48494835T>G	ENST00000435803.1	+	43	12791	c.12767T>G	c.(12766-12768)cTc>cGc	p.L4256R	ABCA13_ENST00000544596.1_Missense_Mutation_p.L16R	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4256					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TACCCTCCCCTCAGACTCACA	0.542																																						ENST00000435803.1																			0				breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(12766-12768)cTc>cGc		ATP-binding cassette, sub-family A (ABC1), member 13							23.0	27.0	26.0					7																	48494835		2016	4155	6171	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48494835T>G	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.12767T>G	7.37:g.48494835T>G	ENSP00000411096:p.Leu4256Arg					ABCA13_ENST00000544596.1_Missense_Mutation_p.L16R	p.L4256R	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			43	12791	+			4256					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.12767T>G	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	T	14.80	2.643956	0.47258	.	.	ENSG00000179869	ENST00000435803;ENST00000411975;ENST00000544596	D;D;D	0.94376	-3.41;-3.41;-3.27	5.19	5.19	0.71726	.	0.000000	0.43747	D	0.000537	D	0.96688	0.8919	M	0.86420	2.815	0.45899	D	0.998744	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.994;0.997;0.998	D	0.97122	0.9812	10	0.87932	D	0	.	11.7593	0.51892	0.0:0.0:0.0:1.0	.	16;1958;4256	F5H7B7;Q86UQ4-3;Q86UQ4	.;.;ABCAD_HUMAN	R	4256;59;16	ENSP00000411096:L4256R;ENSP00000391042:L59R;ENSP00000442634:L16R	ENSP00000391042:L59R	L	+	2	0	ABCA13	48465381	0.996000	0.38824	0.934000	0.37439	0.209000	0.24338	4.818000	0.62657	2.090000	0.63153	0.459000	0.35465	CTC		0.542	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		4	35	0	0	0	1	0	4	35				
MT-ND2	4536	broad.mit.edu	37	M	2339	2339	+	5'Flank	SNP	G	G	A			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chrM:2339G>A	ENST00000361453.3	+	0	0				MT-TQ_ENST00000387372.1_RNA|MT-TL1_ENST00000386347.1_RNA|MT-TM_ENST00000387377.1_RNA|MT-RNR1_ENST00000389680.2_RNA|MT-TI_ENST00000387365.1_RNA|MT-ND1_ENST00000361390.2_5'Flank|MT-RNR2_ENST00000387347.2_RNA|MT-TF_ENST00000387314.1_RNA|MT-TV_ENST00000387342.1_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						TCCTCCGCATAAGCCTGCGTC	0.393																																						ENST00000387347.2																			0																																																	SO:0001631	upstream_gene_variant	0							g.chrM:2339G>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.2339G>A	Exception_encountered							NR_039705.1						0	669	+								Q34769|Q9TGI0|Q9TGI1|Q9TGI2|Q9TGI3|Q9TGI4	RNA	SNP	ENST00000361453.3	37																																																																																						0.393	MT-ND2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024027		194	148	0	0	0	1	0	194	148				
PCDHGA10	56106	broad.mit.edu	37	5	140793312	140793312	+	Silent	SNP	C	C	T			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr5:140793312C>T	ENST00000398610.2	+	1	570	c.570C>T	c.(568-570)gcC>gcT	p.A190A	PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10	190	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAGCCGTGCCAATGGCGTCA	0.597																																						ENST00000398610.2																			0				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(568-570)gcC>gcT									39.0	41.0	40.0					5																	140793312		1989	4158	6147	SO:0001819	synonymous_variant	0							g.chr5:140793312C>T		CCDS47292.1, CCDS75343.1	5q31	2010-01-26			ENSG00000253846	ENSG00000253846		"""Cadherins / Protocadherins : Clustered"""	8697	other	protocadherin		606297				10380929	Standard	NM_018913		Approved	PCDH-GAMMA-A10		Q9Y5H3	OTTHUMG00000163688	ENST00000398610.2:c.570C>T	5.37:g.140793312C>T						PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA8_ENST00000398604.2_Intron	p.A190A	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	570	+								Q9Y5E0	Silent	SNP	ENST00000398610.2	37	c.570C>T	CCDS47292.1																																																																																				0.597	PCDHGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374747.1	NM_018913		19	35	0	0	0	1	0	19	35				
OGDHL	55753	broad.mit.edu	37	10	50959892	50959892	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr10:50959892G>A	ENST00000374103.4	-	6	815	c.730C>T	c.(730-732)Cgg>Tgg	p.R244W	OGDHL_ENST00000419399.1_Missense_Mutation_p.R187W|OGDHL_ENST00000432695.1_Missense_Mutation_p.R35W	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	244					glycolytic process (GO:0006096)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)	p.R244R(1)		central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						CGCACTAGCCGGGCCAGCAGG	0.612																																						ENST00000374103.4																			1	Substitution - coding silent(1)	p.R244R(1)	lung(1)	central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						c.(730-732)Cgg>Tgg		oxoglutarate dehydrogenase-like							90.0	92.0	91.0					10																	50959892		2203	4300	6503	SO:0001583	missense	55753				glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:50959892G>A	AK001713	CCDS7234.1, CCDS44390.1, CCDS44391.1	10q11.23	2013-09-20			ENSG00000197444	ENSG00000197444			25590	protein-coding gene	gene with protein product						10574462	Standard	NM_018245		Approved	FLJ10851	uc001jie.3	Q9ULD0	OTTHUMG00000018200	ENST00000374103.4:c.730C>T	10.37:g.50959892G>A	ENSP00000363216:p.Arg244Trp					OGDHL_ENST00000432695.1_Missense_Mutation_p.R35W|OGDHL_ENST00000419399.1_Missense_Mutation_p.R187W	p.R244W	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN			6	815	-			244					A8K2G1|B4DKG2|B4E193|Q8TAN9|Q9NVA0	Missense_Mutation	SNP	ENST00000374103.4	37	c.730C>T	CCDS7234.1	.	.	.	.	.	.	.	.	.	.	G	18.54	3.645684	0.67358	.	.	ENSG00000197444	ENST00000374103;ENST00000419399;ENST00000432695	D;D;D	0.96265	-3.96;-3.96;-3.96	5.57	4.65	0.58169	Dehydrogenase, E1 component (1);	0.000000	0.85682	D	0.000000	D	0.98779	0.9589	H	0.97611	4.04	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	D	0.99243	1.0885	10	0.87932	D	0	.	13.9519	0.64123	0.0:0.0:0.545:0.455	.	187;35;244	Q9ULD0-2;Q9ULD0-3;Q9ULD0	.;.;OGDHL_HUMAN	W	244;187;35	ENSP00000363216:R244W;ENSP00000401356:R187W;ENSP00000390240:R35W	ENSP00000363216:R244W	R	-	1	2	OGDHL	50629898	0.994000	0.37717	0.999000	0.59377	0.986000	0.74619	1.581000	0.36558	1.296000	0.44742	0.655000	0.94253	CGG		0.612	OGDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048007.1	NM_018245		95	91	0	0	0	1	0	95	91				
ADRA1A	148	broad.mit.edu	37	8	26627888	26627888	+	Silent	SNP	G	G	A	rs143947423		TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr8:26627888G>A	ENST00000519229.1	-	2	1185	c.1179C>T	c.(1177-1179)ggC>ggT	p.G393G	ADRA1A_ENST00000276393.4_Silent_p.G393G|ADRA1A_ENST00000380581.2_Intron|ADRA1A_ENST00000380587.1_Intron|ADRA1A_ENST00000380586.1_Silent_p.G393G|ADRA1A_ENST00000380582.3_Silent_p.G393G|ADRA1A_ENST00000354550.4_Silent_p.G393G|ADRA1A_ENST00000380573.3_Silent_p.G393G			P25100	ADA1D_HUMAN	adrenoceptor alpha 1A	351					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|DNA metabolic process (GO:0006259)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of the force of heart contraction involved in baroreceptor response to increased systemic arterial blood pressure (GO:0001986)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|positive regulation of cell proliferation (GO:0008284)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha1-adrenergic receptor activity (GO:0004937)			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Dapiprazole(DB00298)|Desipramine(DB01151)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Oxymetazoline(DB00935)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Xylometazoline(DB06694)	ATTCACAAACGCCATCCGTCT	0.552																																						ENST00000380573.3																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36						c.(1177-1179)ggC>ggT		adrenoceptor alpha 1A	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)						120.0	117.0	118.0					8																	26627888		2203	4300	6503	SO:0001819	synonymous_variant	148				activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity	g.chr8:26627888G>A	L31774	CCDS6052.1, CCDS6053.1, CCDS6054.1, CCDS34869.1	8p21.2	2012-08-08	2012-05-09		ENSG00000120907	ENSG00000120907		"""GPCR / Class A : Adrenoceptors : alpha"""	277	protein-coding gene	gene with protein product		104221	"""adrenergic, alpha-1A-, receptor"""	ADRA1C			Standard	NM_033303		Approved	ADRA1L1	uc003xfh.1	P35348	OTTHUMG00000099459	ENST00000519229.1:c.1179C>T	8.37:g.26627888G>A						ADRA1A_ENST00000380587.1_Intron|ADRA1A_ENST00000519229.1_Silent_p.G393G|ADRA1A_ENST00000380581.2_Intron|ADRA1A_ENST00000380582.3_Silent_p.G393G|ADRA1A_ENST00000354550.4_Silent_p.G393G|ADRA1A_ENST00000276393.4_Silent_p.G393G|ADRA1A_ENST00000380586.1_Silent_p.G393G	p.G393G			P35348	ADA1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	3	2202	-		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)	393					Q9NPY0	Silent	SNP	ENST00000519229.1	37	c.1179C>T																																																																																					0.552	ADRA1A-009	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000376207.1	NM_033303		104	102	0	0	0	1	0	104	102				
ITGAE	3682	broad.mit.edu	37	17	3638132	3638132	+	Silent	SNP	C	C	T	rs369021824		TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr17:3638132C>T	ENST00000263087.4	-	21	2732	c.2634G>A	c.(2632-2634)ctG>ctA	p.L878L	ITGAE_ENST00000571185.1_5'UTR	NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	878					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	external side of plasma membrane (GO:0009897)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		TCTTCAACTGCAGGTTTCTGG	0.542																																					NSCLC(182;635 2928 8995 38788)	ENST00000263087.4																			0				NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(2632-2634)ctG>ctA		integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)							257.0	239.0	245.0					17																	3638132		2203	4300	6503	SO:0001819	synonymous_variant	3682				cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr17:3638132C>T	L25851	CCDS32531.1	17p13	2010-03-23				ENSG00000083457		"""CD molecules"", ""Integrins"""	6147	protein-coding gene	gene with protein product		604682				8119947	Standard	NM_002208		Approved	CD103, HUMINAE	uc002fwo.4	P38570		ENST00000263087.4:c.2634G>A	17.37:g.3638132C>T						ITGAE_ENST00000571185.1_5'UTR	p.L878L	NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)	21	2732	-			878					Q17RS6|Q9NZU9	Silent	SNP	ENST00000263087.4	37	c.2634G>A	CCDS32531.1																																																																																				0.542	ITGAE-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438169.1	NM_002208		114	17	0	0	0	1	0	114	17				
MUC2	4583	broad.mit.edu	37	11	1093292	1093292	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr11:1093292C>T	ENST00000441003.2	+	30	5138	c.5111C>T	c.(5110-5112)aCc>aTc	p.T1704I	MUC2_ENST00000333592.6_5'Flank|MUC2_ENST00000361558.6_Intron|MUC2_ENST00000359061.5_Missense_Mutation_p.T1671I	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	0	Approximate repeats.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	atcaccaccaccactacggtg	0.637																																						ENST00000441003.2																			0				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102						c.(5110-5112)aCc>aTc		mucin 2, oligomeric mucus/gel-forming	Pranlukast(DB01411)						107.0	156.0	138.0					11																	1093292		1878	3453	5331	SO:0001583	missense	4583					inner mucus layer|outer mucus layer	protein binding	g.chr11:1093292C>T	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.5111C>T	11.37:g.1093292C>T	ENSP00000415183:p.Thr1704Ile					MUC2_ENST00000361558.6_Intron|MUC2_ENST00000359061.5_Missense_Mutation_p.T1671I	p.T1704I	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	30	5138	+		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)	1695			Approximate repeats.		Q14878	Missense_Mutation	SNP	ENST00000441003.2	37	c.5111C>T		.	.	.	.	.	.	.	.	.	.	C	2.150	-0.394632	0.04899	.	.	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.11063	2.81;2.84	1.6	-2.66	0.06077	.	2.760050	0.04005	U	0.297091	T	0.06416	0.0165	.	.	.	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.36286	-0.9754	9	0.36615	T	0.2	.	2.477	0.04578	0.4942:0.3128:0.0:0.1931	.	1704	E7EUV1	.	I	1704;1671	ENSP00000415183:T1704I;ENSP00000351956:T1671I	ENSP00000351956:T1671I	T	+	2	0	MUC2	1083292	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.330000	0.19715	-0.514000	0.06488	0.184000	0.17185	ACC		0.637	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		4	20	0	0	0	1	0	4	20				
FRMPD2	143162	broad.mit.edu	37	10	49395266	49395266	+	Silent	SNP	G	G	A			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr10:49395266G>A	ENST00000374201.3	-	17	2537	c.2235C>T	c.(2233-2235)ctC>ctT	p.L745L	FRMPD2_ENST00000305531.3_Silent_p.L720L|FRMPD2_ENST00000407470.4_Silent_p.L713L	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	745					tight junction assembly (GO:0070830)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)	1-phosphatidylinositol binding (GO:0005545)			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		GTGGTCCAGAGAGAGAGTCCC	0.562																																						ENST00000374201.3																			0				NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66						c.(2233-2235)ctC>ctT		FERM and PDZ domain containing 2							80.0	70.0	73.0					10																	49395266		2203	4300	6503	SO:0001819	synonymous_variant	143162				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding	g.chr10:49395266G>A	AK123038	CCDS31195.1	10q11	2010-10-13			ENSG00000170324	ENSG00000170324			28572	protein-coding gene	gene with protein product		613323	"""PDZ domain containing 5C"""	PDZD5C, PDZK5C			Standard	NM_001018071		Approved	MGC35285	uc001jdv.3	Q68DX3	OTTHUMG00000018171	ENST00000374201.3:c.2235C>T	10.37:g.49395266G>A						FRMPD2_ENST00000407470.4_Silent_p.L713L|FRMPD2_ENST00000305531.3_Silent_p.L720L	p.L745L	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN		Kidney(211;0.201)	17	2537	-			745					B7WNW0|B7ZML5|Q2VY07|Q6GMQ9|Q6ZN38|Q6ZWI2|Q8N5T9	Silent	SNP	ENST00000374201.3	37	c.2235C>T	CCDS31195.1																																																																																				0.562	FRMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047923.3	NM_152428		14	35	0	0	0	1	0	14	35				
MT-ND2	4536	broad.mit.edu	37	M	2174	2174	+	5'Flank	SNP	G	G	A			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chrM:2174G>A	ENST00000361453.3	+	0	0				MT-TQ_ENST00000387372.1_RNA|MT-TL1_ENST00000386347.1_RNA|MT-TM_ENST00000387377.1_RNA|MT-RNR1_ENST00000389680.2_RNA|MT-TI_ENST00000387365.1_RNA|MT-ND1_ENST00000361390.2_5'Flank|MT-RNR2_ENST00000387347.2_RNA|MT-TF_ENST00000387314.1_RNA|MT-TV_ENST00000387342.1_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						CACCCATAGTAGGCCTAAAAG	0.393																																						ENST00000387347.2																			0																																																	SO:0001631	upstream_gene_variant	0							g.chrM:2174G>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.2174G>A	Exception_encountered							NR_039705.1						0	504	+								Q34769|Q9TGI0|Q9TGI1|Q9TGI2|Q9TGI3|Q9TGI4	RNA	SNP	ENST00000361453.3	37																																																																																						0.393	MT-ND2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024027		74	217	0	0	0	1	0	74	217				
TSSC1	7260	broad.mit.edu	37	2	3341870	3341870	+	Silent	SNP	G	G	T	rs375044108		TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr2:3341870G>T	ENST00000382125.4	-	3	369	c.177C>A	c.(175-177)gtC>gtA	p.V59V	TSSC1_ENST00000443925.2_Silent_p.V59V|TSSC1_ENST00000398659.4_Silent_p.V59V	NM_003310.2	NP_003301.1	Q53HC9	TSSC1_HUMAN	tumor suppressing subtransferable candidate 1	59										breast(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	18	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.212)		OV - Ovarian serous cystadenocarcinoma(76;0.00877)|Epithelial(75;0.0283)|all cancers(51;0.0464)		GATGGAGGAGGACATTTTTAT	0.413																																					Colon(140;1261 1762 4183 34270 49743)	ENST00000398659.4																			0				breast(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	18						c.(175-177)gtC>gtA		tumor suppressing subtransferable candidate 1							120.0	108.0	112.0					2																	3341870		2203	4300	6503	SO:0001819	synonymous_variant	7260						protein binding	g.chr2:3341870G>T	AF019952	CCDS1651.1	2p25.3	2013-01-10			ENSG00000032389	ENSG00000032389		"""WD repeat domain containing"""	12383	protein-coding gene	gene with protein product		608998				9403053, 9925925	Standard	NM_003310		Approved		uc002qxj.2	Q53HC9	OTTHUMG00000090329	ENST00000382125.4:c.177C>A	2.37:g.3341870G>T						TSSC1_ENST00000382125.4_Silent_p.V59V|TSSC1_ENST00000443925.2_Silent_p.V59V	p.V59V			Q53HC9	TSSC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.00877)|Epithelial(75;0.0283)|all cancers(51;0.0464)	3	317	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.212)	59					D6W4Y1|O43179|Q53S19|Q53SG2	Silent	SNP	ENST00000382125.4	37	c.177C>A	CCDS1651.1																																																																																				0.413	TSSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206694.2	NM_003310		38	1	1	0	3.93418e-24	1	4.502e-24	38	1				
PRSS3P2	154754	broad.mit.edu	37	7	142482229	142482229	+	RNA	SNP	T	T	A			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr7:142482229T>A	ENST00000603901.1	+	0	609					NR_001296.3		Q8NHM4	TRY6_HUMAN	protease, serine, 3 pseudogene 2						endothelial cell migration (GO:0043542)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)	p.P203P(1)									CTGGTGGCCCTGTGGTCTGCA	0.493																																						ENST00000603901.1																			1	Substitution - coding silent(1)	p.P203P(1)	prostate(1)																																																0							g.chr7:142482229T>A			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"""trypsinogen C"""						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142482229T>A								NR_001296.3						0	609	+									RNA	SNP	ENST00000603901.1	37																																																																																						0.493	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296		3	33	0	0	0	1	0	3	33				
GSG2	83903	broad.mit.edu	37	17	3627230	3627230	+	Start_Codon_SNP	SNP	A	A	G			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr17:3627230A>G	ENST00000325418.4	+	1	20	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	ITGAE_ENST00000263087.4_Intron|CTD-3195I5.3_ENST00000571741.1_RNA|ITGAE_ENST00000571185.1_5'Flank	NM_031965.2	NP_114171.2	Q8TF76	HASP_HUMAN	germ cell associated 2 (haspin)	1					histone H3-T3 phosphorylation involved in chromosome passenger complex localization to kinetochore (GO:2000751)|intracellular signal transduction (GO:0035556)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|protein localization to chromosome, centromeric region (GO:0071459)|protein phosphorylation (GO:0006468)|regulation of spindle checkpoint (GO:0090231)	centrosome (GO:0005813)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|histone kinase activity (H3-T3 specific) (GO:0072354)|protein kinase activity (GO:0004672)										GGTGCCGGCCATGGCGGCTTC	0.731																																						ENST00000325418.4																			0											c.(1-3)Atg>Gtg		germ cell associated 2 (haspin)							14.0	17.0	16.0					17																	3627230		1841	3677	5518	SO:0001582	initiator_codon_variant	83903				cell cycle|chromatin modification|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr17:3627230A>G	AB039834	CCDS11036.1	17p13	2005-01-19			ENSG00000177602	ENSG00000177602			19682	protein-coding gene	gene with protein product		609240					Standard	NM_031965		Approved	haspin	uc002fwp.3	Q8TF76	OTTHUMG00000090703	ENST00000325418.4:c.1A>G	17.37:g.3627230A>G	ENSP00000325290:p.Met1Val					ITGAE_ENST00000263087.4_Intron	p.M1V	NM_031965.2	NP_114171.2	Q8TF76	HASP_HUMAN			1	20	+			1					Q5U5K3|Q96MN1|Q9BXS7	Translation_Start_Site	SNP	ENST00000325418.4	37	c.1A>G	CCDS11036.1	.	.	.	.	.	.	.	.	.	.	A	13.50	2.254644	0.39896	.	.	ENSG00000177602	ENST00000325418	T	0.08546	3.08	4.53	4.53	0.55603	.	0.000000	0.56097	D	0.000031	T	0.26085	0.0636	.	.	.	0.80722	D	1	P	0.52842	0.956	D	0.65010	0.931	T	0.01099	-1.1452	9	0.87932	D	0	-17.2981	12.4348	0.55593	1.0:0.0:0.0:0.0	.	1	Q8TF76	HASP_HUMAN	V	1	ENSP00000325290:M1V	ENSP00000325290:M1V	M	+	1	0	GSG2	3573979	0.799000	0.28903	0.892000	0.35008	0.114000	0.19823	1.299000	0.33424	1.983000	0.57843	0.383000	0.25322	ATG		0.731	GSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207391.1	NM_031965	Missense_Mutation	35	4	0	0	0	1	0	35	4				
C1RL	51279	broad.mit.edu	37	12	7249404	7249404	+	Silent	SNP	G	G	A			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr12:7249404G>A	ENST00000266542.4	-	6	1139	c.1047C>T	c.(1045-1047)atC>atT	p.I349I	C1RL_ENST00000504702.2_Intron|C1RL_ENST00000545280.1_Intron|C1RL_ENST00000544702.1_3'UTR	NM_016546.2	NP_057630.2	Q9NZP8	C1RL_HUMAN	complement component 1, r subcomponent-like	349	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.			I -> M (in Ref. 3; BAD96522). {ECO:0000305}.	complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GGCCCAGGGGGATGCTGTGCT	0.612																																						ENST00000266542.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(1045-1047)atC>atT		complement component 1, r subcomponent-like							93.0	77.0	82.0					12																	7249404		2203	4300	6503	SO:0001819	synonymous_variant	51279				complement activation, classical pathway|innate immune response|proteolysis		serine-type endopeptidase activity	g.chr12:7249404G>A	AF178985	CCDS8573.1, CCDS73431.1	12p13.31	2008-02-05				ENSG00000139178			21265	protein-coding gene	gene with protein product		608974				12838346	Standard	XM_005253385		Approved	C1r-LP, C1RL1	uc001qsn.3	Q9NZP8		ENST00000266542.4:c.1047C>T	12.37:g.7249404G>A						C1RL_ENST00000545280.1_Intron|C1RL_ENST00000544702.1_3'UTR|C1RL_ENST00000504702.2_Intron	p.I349I	NM_016546.2	NP_057630.2	Q9NZP8	C1RL_HUMAN			6	1139	-			349	I -> M (in Ref. 3; BAD96522).		Peptidase S1.		Q53GX9	Silent	SNP	ENST00000266542.4	37	c.1047C>T	CCDS8573.1	.	.	.	.	.	.	.	.	.	.	G	0.111	-1.138366	0.01742	.	.	ENSG00000139178	ENST00000534950	.	.	.	4.98	-4.11	0.03928	.	.	.	.	.	T	0.51702	0.1690	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51060	-0.8753	4	.	.	.	.	9.0553	0.36401	0.1351:0.6123:0.1588:0.0938	.	.	.	.	S	182	.	.	P	-	1	0	C1RL	7140546	0.000000	0.05858	0.001000	0.08648	0.122000	0.20287	-2.267000	0.01170	-0.651000	0.05415	-0.416000	0.06073	CCC		0.612	C1RL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398367.1	NM_016546		5	71	0	0	0	1	0	5	71				
ZFP36L2	678	broad.mit.edu	37	2	43452192	43452192	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr2:43452192G>A	ENST00000282388.3	-	2	1044	c.751C>T	c.(751-753)Cgg>Tgg	p.R251W	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	251					cell proliferation (GO:0008283)|definitive hemopoiesis (GO:0060216)|hemopoiesis (GO:0030097)|mRNA catabolic process (GO:0006402)|negative regulation of stem cell differentiation (GO:2000737)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				AACTTGGGCCGCGGCTCCCGC	0.761																																						ENST00000282388.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15						c.(751-753)Cgg>Tgg		ZFP36 ring finger protein-like 2							9.0	17.0	14.0					2																	43452192		2114	4206	6320	SO:0001583	missense	678				cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:43452192G>A	X78992	CCDS1811.1	2p22.3-p21	2012-11-27	2012-11-27	2001-11-23	ENSG00000152518	ENSG00000152518		"""RING-type (C3HC4) zinc fingers"""	1108	protein-coding gene	gene with protein product		612053	"""zinc finger protein 36, C3H type-like 1"", ""zinc finger protein 36, C3H type-like 2"""	BRF2		7835719, 8545129, 14981510, 17172869	Standard	NM_006887		Approved	ERF2, RNF162C, TIS11D	uc002rsv.4	P47974	OTTHUMG00000128642	ENST00000282388.3:c.751C>T	2.37:g.43452192G>A	ENSP00000282388:p.Arg251Trp					THADA_ENST00000330266.7_Intron	p.R251W	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN			2	1044	-		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)	251					Q53TB4|Q9BSJ3	Missense_Mutation	SNP	ENST00000282388.3	37	c.751C>T	CCDS1811.1	.	.	.	.	.	.	.	.	.	.	G	13.74	2.327693	0.41197	.	.	ENSG00000152518	ENST00000282388	T	0.53206	0.63	4.37	0.945	0.19543	.	0.425560	0.21316	N	0.076550	T	0.46983	0.1421	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	P	0.61800	0.894	T	0.43637	-0.9379	10	0.87932	D	0	-13.3234	5.1348	0.14928	0.0937:0.1173:0.6001:0.1889	.	251	P47974	TISD_HUMAN	W	251	ENSP00000282388:R251W	ENSP00000282388:R251W	R	-	1	2	ZFP36L2	43305696	0.995000	0.38212	0.927000	0.36925	0.163000	0.22366	0.966000	0.29331	0.280000	0.22209	-0.258000	0.10820	CGG		0.761	ZFP36L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250513.2	NM_006887		29	22	0	0	0	1	0	29	22				
LCT	3938	broad.mit.edu	37	2	136575373	136575373	+	Silent	SNP	C	C	T			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr2:136575373C>T	ENST00000264162.2	-	6	1255	c.1245G>A	c.(1243-1245)agG>agA	p.R415R	AC011893.3_ENST00000437007.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	415	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	TGTTCAGGGGCCTGCGTGGAT	0.652																																						ENST00000264162.2																			0				breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124						c.(1243-1245)agG>agA		lactase							69.0	68.0	68.0					2																	136575373		2203	4300	6503	SO:0001819	synonymous_variant	3938				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	g.chr2:136575373C>T	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.1245G>A	2.37:g.136575373C>T							p.R415R	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	6	1255	-			415			4 X approximate repeats.		Q4ZG58	Silent	SNP	ENST00000264162.2	37	c.1245G>A	CCDS2178.1																																																																																				0.652	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		61	94	0	0	0	1	0	61	94				
MAN2C1	4123	broad.mit.edu	37	15	75654730	75654730	+	Missense_Mutation	SNP	G	G	A	rs199696370		TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr15:75654730G>A	ENST00000267978.5	-	8	1008	c.962C>T	c.(961-963)gCg>gTg	p.A321V	MAN2C1_ENST00000569482.1_Missense_Mutation_p.A321V|MAN2C1_ENST00000563539.1_5'Flank|MAN2C1_ENST00000565683.1_Missense_Mutation_p.A321V|MAN2C1_ENST00000563622.1_Missense_Mutation_p.A222V	NM_006715.3	NP_006706.2	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	321					mannose metabolic process (GO:0006013)		alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						CCCACGGCACGCAAACTCCTG	0.612																																						ENST00000565683.1																			0				central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						c.(961-963)gCg>gTg		mannosidase, alpha, class 2C, member 1							50.0	45.0	47.0					15																	75654730		2197	4293	6490	SO:0001583	missense	4123				mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding	g.chr15:75654730G>A	AF044414	CCDS32298.1, CCDS58389.1, CCDS58390.1, CCDS58391.1	15q24.2	2013-09-19			ENSG00000140400	ENSG00000140400	3.2.1.24		6827	protein-coding gene	gene with protein product		154580		MANA1, MANA		1757461, 752528	Standard	NM_006715		Approved		uc002bah.4	Q9NTJ4	OTTHUMG00000172698	ENST00000267978.5:c.962C>T	15.37:g.75654730G>A	ENSP00000267978:p.Ala321Val					MAN2C1_ENST00000563622.1_Missense_Mutation_p.A222V|MAN2C1_ENST00000267978.5_Missense_Mutation_p.A321V|MAN2C1_ENST00000569482.1_Missense_Mutation_p.A321V	p.A321V	NM_001256494.1	NP_001243423.1	Q9NTJ4	MA2C1_HUMAN			8	973	-			321					H3BMX2|H3BQY8|H3BUT6|Q13358|Q68EM8|Q9UL64	Missense_Mutation	SNP	ENST00000267978.5	37	c.962C>T	CCDS32298.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	3.778	-0.046156	0.07407	.	.	ENSG00000140400	ENST00000267978	T	0.63255	-0.03	5.45	3.34	0.38264	Glycoside hydrolase/deacetylase, beta/alpha-barrel (1);Glycoside hydrolase, family 38, core (2);	0.189941	0.45361	D	0.000371	T	0.21509	0.0518	N	0.00583	-1.355	0.34698	D	0.726402	B;B;B	0.26318	0.146;0.064;0.124	B;B;B	0.31495	0.131;0.037;0.038	T	0.40572	-0.9556	10	0.02654	T	1	-13.6192	4.2116	0.10514	0.4468:0.0:0.5532:0.0	.	103;321;321	B4DVP6;Q68EM8;Q9NTJ4	.;.;MA2C1_HUMAN	V	321	ENSP00000267978:A321V	ENSP00000267978:A321V	A	-	2	0	MAN2C1	73441783	0.896000	0.30565	0.970000	0.41538	0.315000	0.28087	2.006000	0.40874	1.299000	0.44798	0.561000	0.74099	GCG		0.612	MAN2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419965.1			4	31	0	0	0	1	0	4	31				
PI4KA	5297	broad.mit.edu	37	22	21084273	21084273	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr22:21084273C>A	ENST00000572273.1	-	37	4371	c.4141G>T	c.(4141-4143)Gac>Tac	p.D1381Y	PI4KA_ENST00000255882.6_Missense_Mutation_p.D1439Y|PI4KA_ENST00000414196.3_Missense_Mutation_p.D191Y			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	1381					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			ACAGTTATGTCCAGGTTGCTC	0.493																																					GBM(136;1332 1831 3115 23601 50806)	ENST00000255882.6																			0				breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79						c.(4315-4317)Gac>Tac		phosphatidylinositol 4-kinase, catalytic, alpha							105.0	78.0	87.0					22																	21084273		2203	4300	6503	SO:0001583	missense	5297				phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	g.chr22:21084273C>A	L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.4141G>T	22.37:g.21084273C>A	ENSP00000458238:p.Asp1381Tyr					PI4KA_ENST00000572273.1_Missense_Mutation_p.D1381Y|PI4KA_ENST00000414196.3_Missense_Mutation_p.D191Y	p.D1439Y	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		37	4401	-	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	1381					Q7Z625|Q9UPG2	Missense_Mutation	SNP	ENST00000572273.1	37	c.4315G>T		.	.	.	.	.	.	.	.	.	.	C	29.3	4.991609	0.93106	.	.	ENSG00000241973	ENST00000255882;ENST00000414196	T	0.77877	-1.13	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.79293	0.4421	L	0.51422	1.61	0.80722	D	1	D	0.63880	0.993	P	0.49332	0.607	T	0.76556	-0.2916	10	0.27785	T	0.31	-29.1856	19.29	0.94095	0.0:1.0:0.0:0.0	.	1381	P42356	PI4KA_HUMAN	Y	1381;191	ENSP00000402981:D191Y	ENSP00000255882:D1381Y	D	-	1	0	PI4KA	19414273	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.706000	0.84615	2.569000	0.86673	0.563000	0.77884	GAC		0.493	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_058004		28	33	1	0	1.42536e-11	1	1.59813e-11	28	33				
FCRL3	115352	broad.mit.edu	37	1	157660318	157660318	+	Missense_Mutation	SNP	C	C	G	rs143813895		TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr1:157660318C>G	ENST00000368184.3	-	9	1708	c.1417G>C	c.(1417-1419)Gtg>Ctg	p.V473L	FCRL3_ENST00000473231.1_5'UTR|FCRL3_ENST00000368186.5_Missense_Mutation_p.V473L|RP11-367J7.3_ENST00000453692.1_RNA	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	473						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					GGGCGAGACACCGGAACTGAG	0.537																																						ENST00000368184.3																			0				autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69						c.(1417-1419)Gtg>Ctg		Fc receptor-like 3							36.0	40.0	38.0					1																	157660318		2202	4297	6499	SO:0001583	missense	115352					integral to membrane|plasma membrane	receptor activity	g.chr1:157660318C>G	AF459027	CCDS1167.1	1q21-q22	2013-01-11			ENSG00000160856	ENSG00000160856		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18506	protein-coding gene	gene with protein product		606510				11493702, 12014205	Standard	XR_241065		Approved	FCRH3, IRTA3, IFGP3, SPAP2a, SPAP2, SPAP2b, SPAP2c, SPAP2d, SPAP2e, CD307c	uc001frb.3	Q96P31	OTTHUMG00000019400	ENST00000368184.3:c.1417G>C	1.37:g.157660318C>G	ENSP00000357167:p.Val473Leu					FCRL3_ENST00000368186.5_Missense_Mutation_p.V473L|FCRL3_ENST00000473231.1_5'UTR	p.V473L	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN			9	1708	-	all_hematologic(112;0.0378)		473					A0N0M4|A8MTH7|D3DVD2|Q5VXZ8|Q8N6S2|Q96LA4|Q96P27|Q96P28|Q96P29|Q96P30	Missense_Mutation	SNP	ENST00000368184.3	37	c.1417G>C	CCDS1167.1	.	.	.	.	.	.	.	.	.	.	.	11.25	1.583767	0.28268	.	.	ENSG00000160856	ENST00000368186;ENST00000368184;ENST00000292392	T;T	0.02763	4.17;4.17	4.47	4.47	0.54385	.	0.481363	0.15576	N	0.255186	T	0.03608	0.0103	M	0.80508	2.5	0.23449	N	0.99766	P;P;P	0.41710	0.551;0.76;0.746	B;B;B	0.43754	0.248;0.269;0.43	T	0.08597	-1.0714	10	0.72032	D	0.01	.	12.5274	0.56093	0.0:1.0:0.0:0.0	.	473;378;473	Q96P31;D3DVD1;Q96P31-6	FCRL3_HUMAN;.;.	L	473	ENSP00000357169:V473L;ENSP00000357167:V473L	ENSP00000292392:V473L	V	-	1	0	FCRL3	155926942	1.000000	0.71417	0.992000	0.48379	0.015000	0.08874	3.387000	0.52501	2.323000	0.78572	0.655000	0.94253	GTG		0.537	FCRL3-006	NOVEL	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051419.2	NM_052939		10	113	0	0	0	1	0	10	113				
SMC1A	8243	broad.mit.edu	37	X	53432009	53432009	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chrX:53432009G>A	ENST00000322213.4	-	13	2258	c.2131C>T	c.(2131-2133)Cgg>Tgg	p.R711W	SMC1A_ENST00000375340.6_Missense_Mutation_p.R477W	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	711			R -> Q (in CDLS2). {ECO:0000269|PubMed:20358602}.|R -> W (in CDLS2). {ECO:0000269|PubMed:17273969, ECO:0000269|PubMed:19701948}.		DNA repair (GO:0006281)|gene expression (GO:0010467)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid cohesion (GO:0007064)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA endoreduplication (GO:0032876)|response to radiation (GO:0009314)|RNA splicing (GO:0008380)|signal transduction in response to DNA damage (GO:0042770)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin core heterodimer (GO:0008280)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|meiotic cohesin complex (GO:0030893)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)	p.R711W(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						TACTTGAGCCGCATCTGCAGT	0.562																																						ENST00000322213.4																			1	Substitution - Missense(1)	p.R711W(1)	endometrium(1)	NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49	GRCh37	CM071102	SMC1A	M		c.(2131-2133)Cgg>Tgg		structural maintenance of chromosomes 1A							107.0	65.0	80.0					X																	53432009		2202	4299	6501	SO:0001583	missense	8243				cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity	g.chrX:53432009G>A	S78271	CCDS14352.1, CCDS75985.1	Xp11.22-p11.21	2014-09-17	2006-07-06	2006-07-06	ENSG00000072501	ENSG00000072501		"""Structural maintenance of chromosomes proteins"""	11111	protein-coding gene	gene with protein product		300040	"""SMC1 (structural maintenance of chromosomes 1, yeast)-like 1"", ""SMC1 structural maintenance of chromosomes 1-like 1 (yeast)"""	SMC1L1		7757074	Standard	NM_006306		Approved	DXS423E, KIAA0178, SB1.8, Smcb	uc004dsg.3	Q14683	OTTHUMG00000021614	ENST00000322213.4:c.2131C>T	X.37:g.53432009G>A	ENSP00000323421:p.Arg711Trp					SMC1A_ENST00000375340.6_Missense_Mutation_p.R477W	p.R711W	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN			13	2258	-			711		R -> Q (in CDLS2).|R -> W (in CDLS2).			O14995|Q16351|Q2M228	Missense_Mutation	SNP	ENST00000322213.4	37	c.2131C>T	CCDS14352.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.081408	0.76528	.	.	ENSG00000072501	ENST00000322213;ENST00000375340	T;D	0.86097	-1.25;-2.07	5.01	4.01	0.46588	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	D	0.92665	0.7669	M	0.92026	3.265	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.973;0.999;1.0	D	0.93094	0.6502	10	0.87932	D	0	.	9.3093	0.37893	0.0:0.0:0.5604:0.4396	.	477;689;711	B7Z709;Q6MZR8;Q14683	.;.;SMC1A_HUMAN	W	711;477	ENSP00000323421:R711W;ENSP00000364489:R477W	ENSP00000323421:R711W	R	-	1	2	SMC1A	53448734	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.114000	0.50383	2.235000	0.73313	0.600000	0.82982	CGG		0.562	SMC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056756.2	NM_006306		21	4	0	0	0	1	0	21	4				
SORCS2	57537	broad.mit.edu	37	4	7725547	7725547	+	Missense_Mutation	SNP	G	G	A	rs370469470	byFrequency	TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr4:7725547G>A	ENST00000507866.2	+	19	2657	c.2548G>A	c.(2548-2550)Gtg>Atg	p.V850M	SORCS2_ENST00000329016.9_Missense_Mutation_p.V678M	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	850	PKD. {ECO:0000255|PROSITE- ProRule:PRU00151}.				neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						CATCTACCGCGTGTCCGTCAG	0.602													G|||	6	0.00119808	0.0008	0.0	5008	,	,		18267	0.0		0.0	False		,,,				2504	0.0051					ENST00000507866.2																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(2548-2550)Gtg>Atg		sortilin-related VPS10 domain containing receptor 2		G	MET/VAL	1,4105		0,1,2052	76.0	78.0	77.0		2548	2.0	0.9	4		77	0,8372		0,0,4186	no	missense	SORCS2	NM_020777.2	21	0,1,6238	AA,AG,GG		0.0,0.0244,0.0080	probably-damaging	850/1160	7725547	1,12477	2053	4186	6239	SO:0001583	missense	57537					integral to membrane	neuropeptide receptor activity	g.chr4:7725547G>A	AB037750	CCDS47008.1	4p16.1	2008-02-05			ENSG00000184985	ENSG00000184985			16698	protein-coding gene	gene with protein product		606284				11499680	Standard	NM_020777		Approved	KIAA1329	uc003gkb.4	Q96PQ0	OTTHUMG00000159981	ENST00000507866.2:c.2548G>A	4.37:g.7725547G>A	ENSP00000422185:p.Val850Met					SORCS2_ENST00000329016.9_Missense_Mutation_p.V678M	p.V850M	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN			19	2657	+			850			PKD.		Q9P2L7	Missense_Mutation	SNP	ENST00000507866.2	37	c.2548G>A	CCDS47008.1	.	.	.	.	.	.	.	.	.	.	G	12.81	2.049844	0.36181	2.44E-4	0.0	ENSG00000184985	ENST00000507866;ENST00000329016	T;T	0.75821	-0.97;-0.97	2.82	1.97	0.26223	PKD/Chitinase domain (1);PKD domain (4);	0.000000	0.64402	U	0.000011	D	0.82618	0.5076	M	0.75777	2.31	0.53005	D	0.999965	D;D	0.89917	0.999;1.0	D;D	0.70716	0.922;0.97	T	0.81913	-0.0715	10	0.87932	D	0	.	9.4847	0.38922	0.1081:0.0:0.8919:0.0	.	678;850	B5MED8;Q96PQ0	.;SORC2_HUMAN	M	850;678	ENSP00000422185:V850M;ENSP00000329124:V678M	ENSP00000329124:V678M	V	+	1	0	SORCS2	7776447	1.000000	0.71417	0.925000	0.36789	0.019000	0.09904	8.741000	0.91583	0.399000	0.25367	-0.373000	0.07131	GTG		0.602	SORCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358685.4	NM_020777		81	73	0	0	0	1	0	81	73				
L3MBTL1	26013	broad.mit.edu	37	20	42164751	42164751	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr20:42164751C>T	ENST00000427442.2	+	18	2033	c.1874C>T	c.(1873-1875)cCt>cTt	p.P625L	L3MBTL1_ENST00000373134.1_Missense_Mutation_p.P562L|L3MBTL1_ENST00000444063.1_Missense_Mutation_p.P557L|L3MBTL1_ENST00000418998.1_Missense_Mutation_p.P625L|L3MBTL1_ENST00000373135.3_Missense_Mutation_p.P557L			Q9Y468	LMBL1_HUMAN	l(3)mbt-like 1 (Drosophila)	557					chromatin modification (GO:0016568)|hemopoiesis (GO:0030097)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of megakaryocyte differentiation (GO:0045652)|regulation of mitosis (GO:0007088)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|identical protein binding (GO:0042802)|methylated histone binding (GO:0035064)|nucleosomal histone binding (GO:0031493)|nucleosome binding (GO:0031491)|SAM domain binding (GO:0032093)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						TGCCCCACTCCTGGTTGCGAC	0.597																																						ENST00000444063.1																			0				breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						c.(1669-1671)cCt>cTt		l(3)mbt-like 1 (Drosophila)							35.0	30.0	31.0					20																	42164751		2203	4300	6503	SO:0001583	missense	26013				chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:42164751C>T	U89358	CCDS13319.1, CCDS46602.1, CCDS46602.2	20q13.12	2013-01-10	2010-09-03	2010-09-03	ENSG00000185513	ENSG00000185513		"""Zinc fingers, C2HC-type containing"", ""Sterile alpha motif (SAM) domain containing"""	15905	protein-coding gene	gene with protein product	"""lethal (3) malignant brain tumor l(3)"""	608802	"""l(3)mbt (Drosophila)-like"", ""l(3)mbt-like (Drosophila)"""	L3MBTL		10445843, 17540172	Standard	NM_032107		Approved	ZC2HC3, dJ138B7.3, DKFZp586P1522, KIAA0681	uc010zwh.2	Q9Y468	OTTHUMG00000032503	ENST00000427442.2:c.1874C>T	20.37:g.42164751C>T	ENSP00000402107:p.Pro625Leu					L3MBTL1_ENST00000427442.2_Missense_Mutation_p.P625L|L3MBTL1_ENST00000373134.1_Missense_Mutation_p.P562L|L3MBTL1_ENST00000373135.3_Missense_Mutation_p.P557L|L3MBTL1_ENST00000418998.1_Missense_Mutation_p.P625L	p.P557L			Q9Y468	LMBL1_HUMAN			15	1802	+			557					B4DRC9|E1P5W7|Q5H8Y8|Q5H8Y9|Q8IUV7|Q9H1E6|Q9H1G5|Q9UG06|Q9UJB9|Q9Y4C9	Missense_Mutation	SNP	ENST00000427442.2	37	c.1670C>T	CCDS46602.2	.	.	.	.	.	.	.	.	.	.	C	28.1	4.892416	0.91889	.	.	ENSG00000185513	ENST00000427442;ENST00000418998;ENST00000373135;ENST00000444063;ENST00000373134;ENST00000422861;ENST00000373133	T;T;T;T;T;T	0.39997	1.05;1.05;1.05;1.05;1.67;1.05	5.58	5.58	0.84498	.	0.107611	0.64402	D	0.000005	T	0.63165	0.2488	M	0.69463	2.115	0.80722	D	1	P;P;D;P	0.69078	0.746;0.503;0.997;0.729	P;B;D;B	0.65874	0.535;0.384;0.939;0.413	T	0.62134	-0.6918	10	0.52906	T	0.07	.	18.7754	0.91910	0.0:1.0:0.0:0.0	.	625;209;557;557	Q9Y468-5;Q9Y468-3;Q9Y468-2;Q9Y468-1	.;.;.;.	L	625;625;557;557;562;343;209	ENSP00000402107:P625L;ENSP00000398516:P625L;ENSP00000362227:P557L;ENSP00000403316:P557L;ENSP00000362226:P562L;ENSP00000410139:P343L	ENSP00000362225:P209L	P	+	2	0	L3MBTL1	41598165	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	7.529000	0.81952	2.800000	0.96347	0.650000	0.86243	CCT		0.597	L3MBTL1-007	KNOWN	upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079300.3	NM_032107		5	63	0	0	0	1	0	5	63				
RAB25	57111	broad.mit.edu	37	1	156039516	156039516	+	Missense_Mutation	SNP	A	A	G			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr1:156039516A>G	ENST00000361084.5	+	4	729	c.488A>G	c.(487-489)gAg>gGg	p.E163G	RAB25_ENST00000487325.1_3'UTR	NM_020387.2	NP_065120.2	P57735	RAB25_HUMAN	RAB25, member RAS oncogene family	163					positive regulation of cell proliferation (GO:0008284)|protein transport (GO:0015031)|pseudopodium organization (GO:0031268)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	GTP binding (GO:0005525)|myosin V binding (GO:0031489)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5	Hepatocellular(266;0.158)|all_neural(408;0.195)					ACCAATGTTGAGCTAGCCTTT	0.498																																						ENST00000361084.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5						c.(487-489)gAg>gGg		RAB25, member RAS oncogene family							261.0	253.0	256.0					1																	156039516		1975	4150	6125	SO:0001583	missense	57111				positive regulation of cell proliferation|protein transport|pseudopodium organization|small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle|pseudopodium membrane	GTP binding|identical protein binding	g.chr1:156039516A>G	AF083124	CCDS41413.1	1q22	2008-07-03			ENSG00000132698	ENSG00000132698		"""RAB, member RAS oncogene"""	18238	protein-coding gene	gene with protein product		612942				11697911	Standard	NM_020387		Approved	CATX-8	uc001fnc.3	P57735	OTTHUMG00000017457	ENST00000361084.5:c.488A>G	1.37:g.156039516A>G	ENSP00000354376:p.Glu163Gly					RAB25_ENST00000487325.1_3'UTR	p.E163G	NM_020387.2	NP_065120.2	P57735	RAB25_HUMAN			4	729	+	Hepatocellular(266;0.158)|all_neural(408;0.195)		163					Q5VYA2|Q8NG24|Q96GB1|Q9BT12	Missense_Mutation	SNP	ENST00000361084.5	37	c.488A>G	CCDS41413.1	.	.	.	.	.	.	.	.	.	.	A	25.7	4.661677	0.88154	.	.	ENSG00000132698	ENST00000361084	T	0.79141	-1.24	5.05	5.05	0.67936	Small GTP-binding protein domain (1);	0.051559	0.85682	D	0.000000	D	0.83691	0.5309	M	0.72624	2.21	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.86178	0.1604	10	0.87932	D	0	.	12.7895	0.57526	1.0:0.0:0.0:0.0	.	163	P57735	RAB25_HUMAN	G	163	ENSP00000354376:E163G	ENSP00000354376:E163G	E	+	2	0	RAB25	154306140	1.000000	0.71417	0.989000	0.46669	0.959000	0.62525	9.007000	0.93597	2.117000	0.64856	0.402000	0.26972	GAG		0.498	RAB25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046185.1			11	470	0	0	0	1	0	11	470				
ARAP3	64411	broad.mit.edu	37	5	141044588	141044588	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr5:141044588C>T	ENST00000239440.4	-	19	2766	c.2701G>A	c.(2701-2703)Gcg>Acg	p.A901T	ARAP3_ENST00000512390.1_5'UTR|ARAP3_ENST00000508305.1_Missense_Mutation_p.A803T|ARAP3_ENST00000513878.1_Missense_Mutation_p.A563T	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	901					cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						CCACCAGCCGCGCCCCCAATG	0.637											OREG0016871	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000239440.4																			0				NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						c.(2701-2703)Gcg>Acg		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3							22.0	26.0	24.0					5																	141044588		2203	4298	6501	SO:0001583	missense	64411				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding	g.chr5:141044588C>T	AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	24097	protein-coding gene	gene with protein product		606647	"""centaurin, delta 3"""	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.2701G>A	5.37:g.141044588C>T	ENSP00000239440:p.Ala901Thr		OREG0016871	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1661	ARAP3_ENST00000508305.1_Missense_Mutation_p.A803T|ARAP3_ENST00000513878.1_Missense_Mutation_p.A563T|ARAP3_ENST00000512390.1_5'UTR	p.A901T	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN			19	2766	-			901					B4DIT1|D3DQE3	Missense_Mutation	SNP	ENST00000239440.4	37	c.2701G>A	CCDS4266.1	.	.	.	.	.	.	.	.	.	.	C	19.34	3.808387	0.70797	.	.	ENSG00000120318	ENST00000508305;ENST00000239440;ENST00000513878	T;T;T	0.38240	1.15;1.15;1.15	4.83	4.83	0.62350	Pleckstrin homology domain (1);	0.062579	0.64402	D	0.000008	T	0.53530	0.1802	L	0.57536	1.79	0.51482	D	0.999926	D;D;D	0.89917	1.0;0.997;0.998	D;P;P	0.70487	0.969;0.803;0.67	T	0.53114	-0.8484	10	0.54805	T	0.06	.	12.7435	0.57266	0.2048:0.7952:0.0:0.0	.	563;803;901	B4DIT1;G5E9Y3;Q8WWN8	.;.;ARAP3_HUMAN	T	803;901;563	ENSP00000421826:A803T;ENSP00000239440:A901T;ENSP00000421468:A563T	ENSP00000239440:A901T	A	-	1	0	ARAP3	141024772	0.989000	0.36119	0.107000	0.21349	0.299000	0.27559	2.852000	0.48310	2.518000	0.84900	0.650000	0.86243	GCG		0.637	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	NM_022481		24	22	0	0	0	1	0	24	22				
LRP1	4035	broad.mit.edu	37	12	57589461	57589461	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr12:57589461G>A	ENST00000243077.3	+	53	8924	c.8458G>A	c.(8458-8460)Gac>Aac	p.D2820N	MIR1228_ENST00000408438.1_RNA	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2820	LDL-receptor class A 18. {ECO:0000255|PROSITE-ProRule:PRU00124}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CACTTGTGACGACCGTGAGTT	0.602																																						ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(8458-8460)Gac>Aac		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						124.0	109.0	114.0					12																	57589461		2203	4300	6503	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57589461G>A	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.8458G>A	12.37:g.57589461G>A	ENSP00000243077:p.Asp2820Asn						p.D2820N	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	53	8924	+			2820			LDL-receptor class A 18.		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.8458G>A	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	G	11.49	1.655328	0.29425	.	.	ENSG00000123384	ENST00000243077	D	0.95205	-3.64	4.95	4.95	0.65309	.	0.439678	0.21658	N	0.071070	D	0.88930	0.6571	L	0.31752	0.955	0.80722	D	1	P	0.38048	0.616	B	0.28849	0.095	D	0.87786	0.2615	10	0.21540	T	0.41	.	17.1132	0.86681	0.0:0.0:1.0:0.0	.	2820	Q07954	LRP1_HUMAN	N	2820	ENSP00000243077:D2820N	ENSP00000243077:D2820N	D	+	1	0	LRP1	55875728	0.737000	0.28175	0.331000	0.25455	0.278000	0.26855	3.210000	0.51129	2.562000	0.86427	0.561000	0.74099	GAC		0.602	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		38	40	0	0	0	1	0	38	40				
BCAS1	8537	broad.mit.edu	37	20	52612494	52612494	+	Silent	SNP	G	G	A	rs146823292		TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr20:52612494G>A	ENST00000395961.3	-	5	985	c.819C>T	c.(817-819)gaC>gaT	p.D273D	BCAS1_ENST00000371435.2_Silent_p.D273D|BCAS1_ENST00000434986.2_De_novo_Start_OutOfFrame|BCAS1_ENST00000371440.3_Silent_p.D273D	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	273						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			CCTGGGAATCGTCCTTTGCAG	0.463																																						ENST00000434986.2																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37								breast carcinoma amplified sequence 1		G		1,4405	2.1+/-5.4	0,1,2202	127.0	112.0	117.0		819	-8.6	0.0	20	dbSNP_134	117	0,8600		0,0,4300	no	coding-synonymous	BCAS1	NM_003657.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		273/585	52612494	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8537					cytoplasm	protein binding	g.chr20:52612494G>A	AF041260	CCDS13444.1	20q13.2	2006-11-10			ENSG00000064787	ENSG00000064787			974	protein-coding gene	gene with protein product		602968				9671742	Standard	NM_003657		Approved	NABC1, AIBC1	uc002xws.2	O75363	OTTHUMG00000032772	ENST00000395961.3:c.819C>T	20.37:g.52612494G>A						BCAS1_ENST00000395961.3_Silent_p.D273D|BCAS1_ENST00000371440.3_Silent_p.D273D|BCAS1_ENST00000371435.2_Silent_p.D273D				O75363	BCAS1_HUMAN	STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)		0	242	-	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)							A0AVG5|Q68CZ3	Translation_Start_Site	SNP	ENST00000395961.3	37		CCDS13444.1																																																																																				0.463	BCAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079766.2	NM_003657		39	80	0	0	0	1	0	39	80				
HCN1	348980	broad.mit.edu	37	5	45262055	45262055	+	Missense_Mutation	SNP	C	C	A	rs56377228		TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr5:45262055C>A	ENST00000303230.4	-	8	2698	c.2641G>T	c.(2641-2643)Gca>Tca	p.A881S		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	881					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						GGCTTTTCTGCGTCTGGGTCT	0.473																																						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	GRCh37	CM080409	HCN1	M	rs56377228	c.(2641-2643)Gca>Tca		hyperpolarization activated cyclic nucleotide-gated potassium channel 1							92.0	107.0	102.0					5																	45262055		2203	4300	6503	SO:0001583	missense	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45262055C>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.2641G>T	5.37:g.45262055C>A	ENSP00000307342:p.Ala881Ser						p.A881S	NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN			8	2698	-			881						Missense_Mutation	SNP	ENST00000303230.4	37	c.2641G>T	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	C	3.074	-0.190501	0.06299	.	.	ENSG00000164588	ENST00000303230	D	0.97232	-4.3	5.01	2.17	0.27698	.	0.568318	0.16459	N	0.213510	D	0.88314	0.6403	N	0.08118	0	0.23620	N	0.997275	B	0.06786	0.001	B	0.04013	0.001	T	0.76921	-0.2780	10	0.05959	T	0.93	.	5.3395	0.15976	0.1412:0.6378:0.0:0.221	.	881	O60741	HCN1_HUMAN	S	881	ENSP00000307342:A881S	ENSP00000307342:A881S	A	-	1	0	HCN1	45297812	0.337000	0.24766	0.901000	0.35422	0.980000	0.70556	1.114000	0.31196	0.216000	0.20781	0.651000	0.88453	GCA		0.473	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		11	164	1	0	0.000151284	1	0.000161467	11	164				
LINC01410	103352539	broad.mit.edu	37	9	66466165	66466165	+	lincRNA	SNP	T	T	C	rs199767575		TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr9:66466165T>C	ENST00000424345.1	+	0	798																											GTTTGAAGAATTGTACATGGT	0.393																																						ENST00000424345.1																			0																																																			0							g.chr9:66466165T>C																													9.37:g.66466165T>C														0	798	+									RNA	SNP	ENST00000424345.1	37																																																																																						0.393	RP11-262H14.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000128851.1			4	12	0	0	0	1	0	4	12				
GRIN2A	2903	broad.mit.edu	37	16	9934842	9934842	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr16:9934842C>A	ENST00000396573.2	-	7	1757	c.1448G>T	c.(1447-1449)gGg>gTg	p.G483V	GRIN2A_ENST00000396575.2_Missense_Mutation_p.G483V|GRIN2A_ENST00000562109.1_Missense_Mutation_p.G483V|GRIN2A_ENST00000535259.1_Missense_Mutation_p.G326V|GRIN2A_ENST00000404927.2_Missense_Mutation_p.G483V|GRIN2A_ENST00000330684.3_Missense_Mutation_p.G483V	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	483			G -> R (in FESD; unknown pathological significance). {ECO:0000269|PubMed:23933820}.		directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GCCATGCTTCCCATTGGTCAC	0.428																																						ENST00000396573.2																			0				NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198						c.(1447-1449)gGg>gTg		glutamate receptor, ionotropic, N-methyl D-aspartate 2A	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						184.0	156.0	165.0					16																	9934842		2197	4300	6497	SO:0001583	missense	0				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:9934842C>A		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.1448G>T	16.37:g.9934842C>A	ENSP00000379818:p.Gly483Val					GRIN2A_ENST00000330684.3_Missense_Mutation_p.G483V|GRIN2A_ENST00000396575.2_Missense_Mutation_p.G483V|GRIN2A_ENST00000404927.2_Missense_Mutation_p.G483V|GRIN2A_ENST00000562109.1_Missense_Mutation_p.G483V|GRIN2A_ENST00000535259.1_Missense_Mutation_p.G326V	p.G483V	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN			7	1757	-			483					O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.1448G>T	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.832715	0.91036	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.56103	0.48;0.48;0.48;0.48;0.48	5.31	5.31	0.75309	Extracellular solute-binding protein, family 3 (1);Glutamate receptor, L-glutamate/glycine-binding (1);Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	T	0.79811	0.4510	M	0.92738	3.34	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.996;0.998;1.0	D	0.84864	0.0821	9	.	.	.	.	17.9959	0.89184	0.0:1.0:0.0:0.0	.	326;483;483	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	V	483;483;326;483;483	ENSP00000379818:G483V;ENSP00000385872:G483V;ENSP00000441572:G326V;ENSP00000332549:G483V;ENSP00000379820:G483V	.	G	-	2	0	GRIN2A	9842343	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.637000	0.83313	2.481000	0.83766	0.561000	0.74099	GGG		0.428	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			37	109	1	0	5.43694e-19	1	6.15816e-19	37	109				
WASF3	10810	broad.mit.edu	37	13	27257060	27257060	+	Nonsense_Mutation	SNP	C	C	T			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr13:27257060C>T	ENST00000335327.5	+	9	1478	c.1300C>T	c.(1300-1302)Cag>Tag	p.Q434*	WASF3_ENST00000361042.4_Nonsense_Mutation_p.Q431*	NM_006646.5	NP_006637.2	Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	434					actin filament polymerization (GO:0030041)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|oligodendrocyte development (GO:0014003)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)				breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		AGAGCCTGCACAGCCACCAAT	0.612																																						ENST00000361042.4																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22						c.(1291-1293)Cag>Tag		WAS protein family, member 3							69.0	79.0	76.0					13																	27257060		2202	4294	6496	SO:0001587	stop_gained	10810				actin filament polymerization	cytoplasm|cytoskeleton	actin binding	g.chr13:27257060C>T	AB020707	CCDS9318.1	13q12	2008-06-23			ENSG00000132970	ENSG00000132970			12734	protein-coding gene	gene with protein product		605068				10381382	Standard	NM_006646		Approved	WAVE3, SCAR3, KIAA0900	uc001uqv.3	Q9UPY6	OTTHUMG00000016621	ENST00000335327.5:c.1300C>T	13.37:g.27257060C>T	ENSP00000335055:p.Gln434*					WASF3_ENST00000335327.5_Nonsense_Mutation_p.Q434*	p.Q431*			Q9UPY6	WASF3_HUMAN		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)	9	1516	+	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)	434					O94974|Q86VQ2	Nonsense_Mutation	SNP	ENST00000335327.5	37	c.1291C>T	CCDS9318.1	.	.	.	.	.	.	.	.	.	.	C	36	5.598245	0.96614	.	.	ENSG00000132970	ENST00000361042;ENST00000335327	.	.	.	5.34	5.34	0.76211	.	0.404147	0.28977	N	0.013534	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	-27.3931	19.0281	0.92941	0.0:1.0:0.0:0.0	.	.	.	.	X	431;434	.	ENSP00000335055:Q434X	Q	+	1	0	WASF3	26155060	0.999000	0.42202	0.950000	0.38849	0.200000	0.23975	4.154000	0.58125	2.480000	0.83734	0.491000	0.48974	CAG		0.612	WASF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044258.1			5	135	0	0	0	1	0	5	135				
OTUB1	55611	broad.mit.edu	37	11	63764986	63764986	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr11:63764986C>T	ENST00000538426.1	+	7	828	c.784C>T	c.(784-786)Cgg>Tgg	p.R262W	OTUB1_ENST00000422031.2_Missense_Mutation_p.R299W|OTUB1_ENST00000535715.1_Intron|OTUB1_ENST00000541478.1_Missense_Mutation_p.R161W|OTUB1_ENST00000428192.2_Missense_Mutation_p.R262W|OTUB1_ENST00000543988.1_Missense_Mutation_p.R232W|OTUB1_ENST00000543004.1_Missense_Mutation_p.R271W	NM_017670.2	NP_060140.2	Q96FW1	OTUB1_HUMAN	OTU deubiquitinase, ubiquitin aldehyde binding 1	262	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.				cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|immune system process (GO:0002376)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein K48-linked deubiquitination (GO:0071108)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	NEDD8-specific protease activity (GO:0019784)|omega peptidase activity (GO:0008242)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)	6						CCTTCTCTACCGGCCTGGACA	0.617																																						ENST00000541478.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)	6						c.(481-483)Cgg>Tgg		OTU domain, ubiquitin aldehyde binding 1							91.0	89.0	90.0					11																	63764986		2201	4297	6498	SO:0001583	missense	55611				protein K48-linked deubiquitination	cytoplasm	NEDD8-specific protease activity|omega peptidase activity|ubiquitin binding|ubiquitin-specific protease activity	g.chr11:63764986C>T	AY177200	CCDS8055.1	11q13.1	2014-02-24	2014-02-24			ENSG00000167770		"""OTU domain containing"""	23077	protein-coding gene	gene with protein product		608337	"""OTU domain, ubiquitin aldehyde binding 1"""			12704427, 19383985	Standard	NM_017670		Approved	FLJ20113, FLJ40710	uc001nyf.1	Q96FW1		ENST00000538426.1:c.784C>T	11.37:g.63764986C>T	ENSP00000444357:p.Arg262Trp					OTUB1_ENST00000428192.2_Missense_Mutation_p.R262W|OTUB1_ENST00000543988.1_Missense_Mutation_p.R232W|OTUB1_ENST00000422031.2_Missense_Mutation_p.R299W|OTUB1_ENST00000535715.1_Intron|OTUB1_ENST00000543004.1_Missense_Mutation_p.R271W|OTUB1_ENST00000538426.1_Missense_Mutation_p.R262W	p.R161W			Q96FW1	OTUB1_HUMAN			4	941	+			262			OTU.		Q32Q78|Q96II3|Q9NXQ4|Q9P0B8	Missense_Mutation	SNP	ENST00000538426.1	37	c.481C>T	CCDS8055.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.209709	0.79240	.	.	ENSG00000167770	ENST00000541478;ENST00000428192;ENST00000422031;ENST00000538426;ENST00000543004;ENST00000543988	T;T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;0.79;0.79	5.17	4.14	0.48551	Ovarian tumour, otubain (1);	0.057052	0.64402	N	0.000003	T	0.74458	0.3719	M	0.93197	3.39	0.51482	D	0.99992	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	0.80783	-0.1228	10	0.87932	D	0	.	12.5249	0.56081	0.2271:0.7729:0.0:0.0	.	299;161;306;262	B4DPD5;F5H3F0;Q96FW1-2;Q96FW1	.;.;.;OTUB1_HUMAN	W	161;262;299;262;271;232	ENSP00000439142:R161W;ENSP00000402551:R262W;ENSP00000416973:R299W;ENSP00000444357:R262W;ENSP00000437453:R271W;ENSP00000441328:R232W	ENSP00000416973:R299W	R	+	1	2	OTUB1	63521562	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.343000	0.33930	2.583000	0.87209	0.462000	0.41574	CGG		0.617	OTUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396277.1	NM_017670		58	109	0	0	0	1	0	58	109				
CCDC88B	283234	broad.mit.edu	37	11	64112227	64112227	+	Silent	SNP	G	G	A			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr11:64112227G>A	ENST00000356786.5	+	14	2258	c.2214G>A	c.(2212-2214)agG>agA	p.R738R	CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000301897.4_5'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	738						membrane (GO:0016020)				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CACAGTTGAGGAGAAAGGCTG	0.652																																						ENST00000356786.5																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(2212-2214)agG>agA		coiled-coil domain containing 88B							49.0	57.0	55.0					11																	64112227		2199	4297	6496	SO:0001819	synonymous_variant	283234				microtubule cytoskeleton organization	cytoplasm	microtubule binding	g.chr11:64112227G>A	AK090436	CCDS8072.2	11q13.1	2013-03-13	2007-05-31	2007-05-31	ENSG00000168071	ENSG00000168071			26757	protein-coding gene	gene with protein product	"""brain leucine zipper protein"", ""GRP78-interacting protein induced by ER stress"""	611205	"""coiled-coil domain containing 88"""	CCDC88		15882442, 21289099	Standard	NM_032251		Approved	FLJ37970, BRLZ, HkRP3, FLJ00354, GIPIE	uc001nzy.3	A6NC98	OTTHUMG00000045419	ENST00000356786.5:c.2214G>A	11.37:g.64112227G>A						CCDC88B_ENST00000301897.4_5'UTR|CCDC88B_ENST00000463837.1_3'UTR	p.R738R	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN			14	2258	+			738					A5D8Y5|B5MDM2|Q05BL2|Q6RUV3|Q8N1Q6|Q8NF44|Q9H0H1	Silent	SNP	ENST00000356786.5	37	c.2214G>A	CCDS8072.2																																																																																				0.652	CCDC88B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104845.1	NM_032251		4	37	0	0	0	1	0	4	37				
MT-ND4	4538	broad.mit.edu	37	M	11274	11274	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chrM:11274G>A	ENST00000361381.2	+	1	515	c.515G>A	c.(514-516)gGc>gAc	p.G172D	MT-TS2_ENST00000387449.1_RNA|MT-TH_ENST00000387441.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-TK_ENST00000387421.1_RNA|MT-ND5_ENST00000361567.2_5'Flank|MT-TG_ENST00000387429.1_RNA|MT-TR_ENST00000387439.1_RNA			P03905	NU4M_HUMAN	mitochondrially encoded NADH dehydrogenase 4	172					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|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)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|prostate(1)	13						CAACACCCTAGGCTCACTAAA	0.448																																						ENST00000361381.2																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|prostate(1)	13						c.(514-516)gGc>gAc		mitochondrially encoded NADH dehydrogenase 4																																				SO:0001583	missense	4538							g.chrM:11274G>A			mitochondria	2014-02-03	2005-02-15	2005-02-16	ENSG00000198886	ENSG00000198886	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7459	protein-coding gene	gene with protein product	"""complex I ND4 subunit"", ""NADH-ubiquinone oxidoreductase chain 4"""	516003	"""NADH dehydrogenase 4"", ""Leber optic neuropathy"""	MTND4, LHON		8103501	Standard			Approved	ND4, NAD4		P03905		ENST00000361381.2:c.515G>A	M.37:g.11274G>A	ENSP00000354961:p.Gly172Asp						p.172_172insD							1	515	+								Q6RL39|Q6RQN9|Q8HNR8	Missense_Mutation	SNP	ENST00000361381.2	37	c.515G>A																																																																																					0.448	MT-ND4-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024035		404	8	0	0	0	1	0	404	8				
NOC4L	79050	broad.mit.edu	37	12	132633385	132633385	+	Silent	SNP	G	G	A	rs144597773		TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr12:132633385G>A	ENST00000330579.1	+	9	887	c.846G>A	c.(844-846)ccG>ccA	p.P282P	NOC4L_ENST00000538784.1_5'Flank|NOC4L_ENST00000535343.1_3'UTR	NM_024078.1	NP_076983.1	Q9BVI4	NOC4L_HUMAN	nucleolar complex associated 4 homolog (S. cerevisiae)	282					rRNA processing (GO:0006364)	integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|skin(2)	14	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.2e-08)|Epithelial(86;3.34e-07)|all cancers(50;1.97e-05)		CCATCCTGCCGCAGCTGGCGC	0.701																																						ENST00000330579.1																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|skin(2)	14						c.(844-846)ccG>ccA		nucleolar complex associated 4 homolog (S. cerevisiae)				2,4374		0,2,2186	29.0	25.0	26.0		846	-10.9	0.2	12	dbSNP_134	26	0,8580		0,0,4290	no	coding-synonymous	NOC4L	NM_024078.1		0,2,6476	AA,AG,GG		0.0,0.0457,0.0154		282/517	132633385	2,12954	2188	4290	6478	SO:0001819	synonymous_variant	79050				rRNA processing	integral to membrane|nuclear membrane|nucleolus	protein binding	g.chr12:132633385G>A		CCDS9277.1	12q24.33	2011-08-12			ENSG00000184967	ENSG00000184967			28461	protein-coding gene	gene with protein product		612819				12446671	Standard	NM_024078		Approved	MGC3162, NET49, UTP19	uc001ujz.1	Q9BVI4	OTTHUMG00000168260	ENST00000330579.1:c.846G>A	12.37:g.132633385G>A						NOC4L_ENST00000535343.1_3'UTR	p.P282P	NM_024078.1	NP_076983.1	Q9BVI4	NOC4L_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.2e-08)|Epithelial(86;3.34e-07)|all cancers(50;1.97e-05)	9	887	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		282					Q8N2S5|Q96I14	Silent	SNP	ENST00000330579.1	37	c.846G>A	CCDS9277.1																																																																																				0.701	NOC4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398999.1	NM_024078		19	17	0	0	0	1	0	19	17				
AHNAK2	113146	broad.mit.edu	37	14	105418191	105418191	+	Silent	SNP	G	G	A			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr14:105418191G>A	ENST00000333244.5	-	7	3716	c.3597C>T	c.(3595-3597)ctC>ctT	p.L1199L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1199						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GCATGGAGGGGAGACTCACGT	0.632																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(3595-3597)ctC>ctT		AHNAK nucleoprotein 2							128.0	113.0	118.0					14																	105418191		1954	4108	6062	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105418191G>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.3597C>T	14.37:g.105418191G>A						AHNAK2_ENST00000557457.1_Intron	p.L1199L	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	3716	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	1199					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.3597C>T	CCDS45177.1																																																																																				0.632	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		6	484	0	0	0	1	0	6	484				
LYZL4	131375	broad.mit.edu	37	3	42448441	42448441	+	Silent	SNP	G	G	A	rs571590107		TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr3:42448441G>A	ENST00000287748.3	-	3	464	c.189C>T	c.(187-189)taC>taT	p.Y63Y	LYZL4_ENST00000470991.1_5'UTR|LYZL4_ENST00000441172.1_Silent_p.Y63Y	NM_144634.2	NP_653235.1	Q96KX0	LYZL4_HUMAN	lysozyme-like 4	63					cell wall macromolecule catabolic process (GO:0016998)	extracellular region (GO:0005576)|nucleus (GO:0005634)	lysozyme activity (GO:0003796)			central_nervous_system(1)|endometrium(1)|lung(1)	3				KIRC - Kidney renal clear cell carcinoma(284;0.222)		GTGTGTTCTCGTAGATGGCCA	0.552													G|||	1	0.000199681	0.0	0.0	5008	,	,		21929	0.001		0.0	False		,,,				2504	0.0					ENST00000287748.3																			0				central_nervous_system(1)|endometrium(1)|lung(1)	3						c.(187-189)taC>taT		lysozyme-like 4							102.0	84.0	90.0					3																	42448441		2203	4300	6503	SO:0001819	synonymous_variant	131375				cell wall macromolecule catabolic process	extracellular region	lysozyme activity	g.chr3:42448441G>A	BC016747, AF326749	CCDS2697.1	3p21.33	2006-04-12			ENSG00000157093	ENSG00000157093			28387	protein-coding gene	gene with protein product		612750				12477932	Standard	NM_144634		Approved	MGC26768, LYC4	uc003cle.3	Q96KX0	OTTHUMG00000131793	ENST00000287748.3:c.189C>T	3.37:g.42448441G>A						LYZL4_ENST00000441172.1_Silent_p.Y63Y|LYZL4_ENST00000470991.1_5'UTR	p.Y63Y	NM_144634.2	NP_653235.1	Q96KX0	LYZL4_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.222)	3	464	-			63						Silent	SNP	ENST00000287748.3	37	c.189C>T	CCDS2697.1																																																																																				0.552	LYZL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254729.2	NM_144634		34	56	0	0	0	1	0	34	56				
LRIT1	26103	broad.mit.edu	37	10	86001097	86001097	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr10:86001097G>C	ENST00000372105.3	-	1	120	c.99C>G	c.(97-99)atC>atG	p.I33M		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	33	LRRNT.					integral component of endoplasmic reticulum membrane (GO:0030176)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						CATCACCCATGATATGGAGGC	0.642																																						ENST00000372105.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						c.(97-99)atC>atG		leucine-rich repeat, immunoglobulin-like and transmembrane domains 1							33.0	34.0	34.0					10																	86001097		2203	4298	6501	SO:0001583	missense	26103					integral to endoplasmic reticulum membrane		g.chr10:86001097G>C	AB031547	CCDS7373.1	10q23	2013-02-11	2007-06-19	2007-06-19	ENSG00000148602	ENSG00000148602		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	23404	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 9"""		"""leucine rich repeat containing 21"""	LRRC21		10777785	Standard	NM_015613		Approved	PAL, DKFZP434K091, FIGLER9	uc001kcz.1	Q9P2V4	OTTHUMG00000018632	ENST00000372105.3:c.99C>G	10.37:g.86001097G>C	ENSP00000361177:p.Ile33Met						p.I33M	NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN			1	120	-			33			LRRNT.		Q0QD41|Q9Y4N7	Missense_Mutation	SNP	ENST00000372105.3	37	c.99C>G	CCDS7373.1	.	.	.	.	.	.	.	.	.	.	G	7.818	0.717178	0.15372	.	.	ENSG00000148602	ENST00000372105	T	0.36878	1.23	4.31	3.4	0.38934	Leucine-rich repeat-containing N-terminal (1);	0.376195	0.29233	N	0.012747	T	0.20292	0.0488	N	0.22421	0.69	0.22842	N	0.998666	B	0.16396	0.017	B	0.14578	0.011	T	0.11036	-1.0604	10	0.34782	T	0.22	.	4.3569	0.11183	0.2005:0.2391:0.5604:0.0	.	33	Q9P2V4	LRIT1_HUMAN	M	33	ENSP00000361177:I33M	ENSP00000361177:I33M	I	-	3	3	LRIT1	85991077	1.000000	0.71417	0.998000	0.56505	0.786000	0.44442	1.471000	0.35365	0.997000	0.38969	0.491000	0.48974	ATC		0.642	LRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049109.1	NM_015613		6	64	0	0	0	1	0	6	64				
OR4K1	79544	broad.mit.edu	37	14	20404416	20404416	+	Silent	SNP	T	T	C	rs373364499		TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr14:20404416T>C	ENST00000285600.4	+	1	650	c.591T>C	c.(589-591)atT>atC	p.I197I		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	197						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(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		AAATGGAAATTATGACCCTAA	0.453																																						ENST00000285600.4																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43						c.(589-591)atT>atC		olfactory receptor, family 4, subfamily K, member 1		T		1,4405		0,1,2202	158.0	161.0	160.0		591	-0.8	0.0	14		160	0,8600		0,0,4300	no	coding-synonymous	OR4K1	NM_001004063.2		0,1,6502	CC,CT,TT		0.0,0.0227,0.0077		197/312	20404416	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	79544				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20404416T>C		CCDS32025.1	14q11.2	2013-09-23			ENSG00000155249	ENSG00000155249		"""GPCR / Class A : Olfactory receptors"""	14726	protein-coding gene	gene with protein product							Standard	NM_001004063		Approved		uc001vwj.2	Q8NGD4	OTTHUMG00000170633	ENST00000285600.4:c.591T>C	14.37:g.20404416T>C							p.I197I	NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)	1	650	+	all_cancers(95;0.00108)		197					B9EKV9|Q8NGD6|Q96R73	Silent	SNP	ENST00000285600.4	37	c.591T>C	CCDS32025.1																																																																																				0.453	OR4K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409881.1			3	38	0	0	0	1	0	3	38				
ATP8B2	57198	broad.mit.edu	37	1	154318722	154318722	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr1:154318722C>T	ENST00000368489.3	+	25	2893	c.2893C>T	c.(2893-2895)Cgg>Tgg	p.R965W		NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	951					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CCCCGAGCAGCGGAGCATGGA	0.577																																						ENST00000368489.3																		IL6R/ATP8B2(2)	0				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51						c.(2893-2895)Cgg>Tgg		ATPase, aminophospholipid transporter, class I, type 8B, member 2							88.0	88.0	88.0					1																	154318722		2203	4300	6503	SO:0001583	missense	57198				ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr1:154318722C>T	AB032963	CCDS1066.1, CCDS41405.1	1q21.3	2012-03-09	2012-03-09		ENSG00000143515	ENSG00000143515		"""ATPases / P-type"""	13534	protein-coding gene	gene with protein product		605867	"""ATPase, class I, type 8B, member 2"""			10574461, 11015572	Standard	NM_020452		Approved	ATPID, KIAA1137	uc001fex.3	P98198	OTTHUMG00000035979	ENST00000368489.3:c.2893C>T	1.37:g.154318722C>T	ENSP00000357475:p.Arg965Trp						p.R965W	NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		25	2893	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		951					B4E3P4|Q6NT69|Q7Z486|Q96I43|Q96NQ7	Missense_Mutation	SNP	ENST00000368489.3	37	c.2893C>T	CCDS1066.1	.	.	.	.	.	.	.	.	.	.	C	11.83	1.756847	0.31137	.	.	ENSG00000143515	ENST00000368489	T	0.71341	-0.56	4.34	2.33	0.28932	.	0.146307	0.43260	D	0.000589	T	0.12050	0.0293	N	0.00143	-2	0.80722	D	1	B	0.09022	0.002	B	0.08055	0.003	T	0.08932	-1.0698	10	0.34782	T	0.22	.	4.9521	0.14019	0.1721:0.6474:0.0:0.1806	.	965	P98198-3	.	W	965	ENSP00000357475:R965W	ENSP00000357475:R965W	R	+	1	2	ATP8B2	152585346	0.978000	0.34361	1.000000	0.80357	0.989000	0.77384	0.363000	0.20301	0.966000	0.38159	0.561000	0.74099	CGG		0.577	ATP8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087658.2	NM_020452		101	105	0	0	0	1	0	101	105				
RNF216	54476	broad.mit.edu	37	7	5760801	5760801	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr7:5760801C>A	ENST00000425013.2	-	9	1560	c.1336G>T	c.(1336-1338)Gac>Tac	p.D446Y	RNF216_ENST00000389902.3_Missense_Mutation_p.D503Y	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216	446					apoptotic process (GO:0006915)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|regulation of defense response to virus by host (GO:0050691)|regulation of interferon-beta production (GO:0032648)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)		FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		ATTTTTATGTCACCTAGAAGA	0.458																																						ENST00000425013.2																		FBXL18/RNF216(2)	0				breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33						c.(1336-1338)Gac>Tac		ring finger protein 216							94.0	87.0	89.0					7																	5760801		2203	4300	6503	SO:0001583	missense	54476				apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding	g.chr7:5760801C>A	AY062174	CCDS34594.1, CCDS34595.1	7p22.1	2014-02-12	2007-08-20		ENSG00000011275	ENSG00000011275		"""RING-type (C3HC4) zinc fingers"""	21698	protein-coding gene	gene with protein product		609948					Standard	NM_207111		Approved	TRIAD3, UBCE7IP1, ZIN	uc003sox.2	Q9NWF9	OTTHUMG00000155500	ENST00000425013.2:c.1336G>T	7.37:g.5760801C>A	ENSP00000404602:p.Asp446Tyr					RNF216_ENST00000389902.3_Missense_Mutation_p.D503Y	p.D446Y	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)	9	1560	-		Ovarian(82;0.07)	446					Q6Y691|Q75ML7|Q7Z2H7|Q7Z7C1|Q8NHW7|Q9NYT1	Missense_Mutation	SNP	ENST00000425013.2	37	c.1336G>T	CCDS34595.1	.	.	.	.	.	.	.	.	.	.	C	18.25	3.582661	0.65992	.	.	ENSG00000011275	ENST00000425013;ENST00000389902;ENST00000458425	T;T	0.50548	0.74;0.74	5.6	2.44	0.29823	.	0.244256	0.35096	N	0.003441	T	0.42017	0.1184	N	0.14661	0.345	0.33555	D	0.596684	D;D	0.58620	0.964;0.983	P;P	0.58331	0.643;0.837	T	0.54990	-0.8210	10	0.87932	D	0	-6.2747	7.4687	0.27336	0.0:0.6156:0.0:0.3844	.	446;503	Q9NWF9;Q9NWF9-1	RN216_HUMAN;.	Y	446;503;258	ENSP00000404602:D446Y;ENSP00000374552:D503Y	ENSP00000374552:D503Y	D	-	1	0	RNF216	5727327	0.986000	0.35501	0.999000	0.59377	0.985000	0.73830	0.570000	0.23653	0.178000	0.19917	0.484000	0.47621	GAC		0.458	RNF216-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000340374.1	NM_207111		4	62	1	0	0.00909568	1	0.00926257	4	62				
TUBB8P7	197331	broad.mit.edu	37	16	90161926	90161926	+	RNA	SNP	T	T	C	rs8061283	byFrequency	TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr16:90161926T>C	ENST00000564451.1	+	0	1279				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.I221T(3)									CCCACACCCATCTATGGTGAC	0.527													.|||	3140	0.626997	0.9395	0.5	5008	,	,		11330	0.7847		0.4702	False		,,,				2504	0.2935					ENST00000567960.1																			3	Substitution - Missense(3)	p.I221T(3)	kidney(2)|prostate(1)																																																0							g.chr16:90161926T>C			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90161926T>C						TUBB8P7_ENST00000564451.1_RNA								0	662	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.527	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		4	0	0	0	0	1	0	4	0				
MT-CO2	4513	broad.mit.edu	37	M	8226	8226	+	Missense_Mutation	SNP	T	T	C			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chrM:8226T>C	ENST00000361739.1	+	1	641	c.641T>C	c.(640-642)aTt>aCt	p.I214T	MT-ND4_ENST00000361381.2_5'Flank|MT-ATP8_ENST00000361851.1_5'Flank|MT-CO3_ENST00000362079.2_5'Flank|MT-TD_ENST00000387419.1_RNA|MT-TK_ENST00000387421.1_RNA|MT-ND3_ENST00000361227.2_5'Flank|MT-TA_ENST00000387392.1_RNA|MT-ND4L_ENST00000361335.1_5'Flank|MT-ATP6_ENST00000361899.2_5'Flank|MT-TC_ENST00000387405.1_RNA|MT-TG_ENST00000387429.1_RNA|MT-TW_ENST00000387382.1_RNA|MT-TR_ENST00000387439.1_RNA|MT-TN_ENST00000387400.1_RNA|MT-TY_ENST00000387409.1_RNA|MT-TS1_ENST00000387416.2_RNA			P00403	COX2_HUMAN	mitochondrially encoded cytochrome c oxidase II	214					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, cytochrome c to oxygen (GO:0006123)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|respiratory chain complex IV (GO:0045277)	copper ion binding (GO:0005507)|cytochrome-c oxidase activity (GO:0004129)			endometrium(5)|kidney(8)|lung(2)|pancreas(3)|prostate(1)	19						CCTAGAATTAATTCCCCTAAA	0.463																																						ENST00000361739.1																			0				endometrium(5)|kidney(8)|lung(2)|pancreas(3)|prostate(1)	19						c.(640-642)aTt>aCt		mitochondrially encoded cytochrome c oxidase II																																				SO:0001583	missense	4513							g.chrM:8226T>C			mitochondria	2012-11-16	2005-02-15	2005-02-16	ENSG00000198712	ENSG00000198712		"""Mitochondrial respiratory chain complex / Complex IV"""	7421	protein-coding gene	gene with protein product		516040	"""cytochrome c oxidase II"""	MTCO2		1712754, 1989603	Standard			Approved	COX2, CO2		P00403		ENST00000361739.1:c.641T>C	M.37:g.8226T>C	ENSP00000354876:p.Ile214Thr						p.I214T							1	641	+								Q37526	Missense_Mutation	SNP	ENST00000361739.1	37	c.641T>C																																																																																					0.463	MT-CO2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024029		8	317	0	0	0	1	0	8	317				
OR6C2	341416	broad.mit.edu	37	12	55846759	55846759	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr12:55846759C>G	ENST00000322678.1	+	1	762	c.762C>G	c.(760-762)atC>atG	p.I254M	RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA	NM_054105.1	NP_473446.1	Q9NZP2	OR6C2_HUMAN	olfactory receptor, family 6, subfamily C, member 2	254					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)			kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						GAAGCTGCATCTTCATCTATA	0.423																																						ENST00000322678.1																			0				kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						c.(760-762)atC>atG		olfactory receptor, family 6, subfamily C, member 2							122.0	121.0	121.0					12																	55846759		2203	4299	6502	SO:0001583	missense	341416				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55846759C>G	AF179766	CCDS31824.1	12q13.2	2012-08-09				ENSG00000179695		"""GPCR / Class A : Olfactory receptors"""	15436	protein-coding gene	gene with protein product							Standard	NM_054105		Approved	OR6C67	uc001sgz.1	Q9NZP2	OTTHUMG00000169957	ENST00000322678.1:c.762C>G	12.37:g.55846759C>G	ENSP00000323606:p.Ile254Met					RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA	p.I254M	NM_054105.1	NP_473446.1	Q9NZP2	OR6C2_HUMAN			1	762	+			254						Missense_Mutation	SNP	ENST00000322678.1	37	c.762C>G	CCDS31824.1	.	.	.	.	.	.	.	.	.	.	C	11.89	1.774851	0.31411	.	.	ENSG00000179695	ENST00000322678	T	0.40756	1.02	5.42	3.62	0.41486	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000011	T	0.50017	0.1591	L	0.53249	1.67	0.31891	N	0.617164	D	0.61080	0.989	D	0.63283	0.913	T	0.57613	-0.7781	10	0.54805	T	0.06	.	4.7744	0.13171	0.0:0.5945:0.1573:0.2482	.	254	Q9NZP2	OR6C2_HUMAN	M	254	ENSP00000323606:I254M	ENSP00000323606:I254M	I	+	3	3	OR6C2	54133026	0.000000	0.05858	1.000000	0.80357	0.166000	0.22503	-0.264000	0.08658	0.868000	0.35678	0.609000	0.83330	ATC		0.423	OR6C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406676.1	NM_054105		26	69	0	0	0	1	0	26	69				
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766	byFrequency	TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr12:132547087G>A	ENST00000333577.4	+	48	8392	c.8283G>A	c.(8281-8283)caG>caA	p.Q2761Q	EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389562.2_Silent_p.Q2724Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2761	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2724Q(16)|p.Q2725Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacaacagc	0.562													G|||	37	0.00738818	0.0038	0.0072	5008	,	,		15585	0.002		0.0149	False		,,,				2504	0.0102					ENST00000333577.4																			17	Substitution - coding silent(17)	p.Q2724Q(16)|p.Q2725Q(1)	prostate(4)|kidney(4)|central_nervous_system(3)|lung(3)|endometrium(2)|urinary_tract(1)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8281-8283)caG>caA		E1A binding protein p400							28.0	31.0	30.0					12																	132547087		2199	4282	6481	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547087G>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8283G>A	12.37:g.132547087G>A						EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000330386.6_Silent_p.Q2644Q	p.Q2761Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8392	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2761			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8283G>A																																																																																					0.562	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		4	111	0	0	0	1	0	4	111				
KMT2C	58508	broad.mit.edu	37	7	151845550	151845550	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr7:151845550C>T	ENST00000262189.6	-	52	13680	c.13462G>A	c.(13462-13464)Gcc>Acc	p.A4488T	KMT2C_ENST00000355193.2_Missense_Mutation_p.A4545T	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	4488					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										GCTTTAATGGCGCAAGTGAAG	0.423																																						ENST00000355193.2																			0											c.(13633-13635)Gcc>Acc		lysine (K)-specific methyltransferase 2C							143.0	136.0	138.0					7																	151845550		2203	4300	6503	SO:0001583	missense	58508							g.chr7:151845550C>T	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.13462G>A	7.37:g.151845550C>T	ENSP00000262189:p.Ala4488Thr					KMT2C_ENST00000262189.6_Missense_Mutation_p.A4488T	p.A4545T							53	13851	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.13633G>A	CCDS5931.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.1|20.1	3.939808|3.939808	0.73557|0.73557	.|.	.|.	ENSG00000055609|ENSG00000055609	ENST00000262189;ENST00000355193;ENST00000424877|ENST00000360104	T;T;T|.	0.75821|.	-0.97;-0.97;-0.97|.	5.24|5.24	5.24|5.24	0.73138|0.73138	Zinc finger, RING-type (1);Zinc finger, PHD-type (1);|.	0.000000|.	0.42821|.	U|.	0.000656|.	D|D	0.87845|0.87845	0.6280|0.6280	H|H	0.95712|0.95712	3.71|3.71	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	1.0;0.998;0.998|.	D|D	0.91278|0.91278	0.5049|0.5049	10|5	0.87932|.	D|.	0|.	.|.	19.1777|19.1777	0.93609|0.93609	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	4488;3606;4545|.	Q8NEZ4;Q8NEZ4-2;Q8NEZ4-3|.	MLL3_HUMAN;.;.|.	T|H	4488;4545;1105|2048	ENSP00000262189:A4488T;ENSP00000347325:A4545T;ENSP00000410411:A1105T|.	ENSP00000262189:A4488T|.	A|R	-|-	1|2	0|0	MLL3|MLL3	151476483|151476483	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.921000|0.921000	0.55340|0.55340	7.776000|7.776000	0.85560|0.85560	2.602000|2.602000	0.87976|0.87976	0.557000|0.557000	0.71058|0.71058	GCC|CGC		0.423	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			82	88	0	0	0	1	0	82	88				
DMTN	2039	broad.mit.edu	37	8	21931326	21931326	+	Missense_Mutation	SNP	A	A	C			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr8:21931326A>C	ENST00000523266.1	+	10	1277	c.815A>C	c.(814-816)gAc>gCc	p.D272A	DMTN_ENST00000432128.1_Missense_Mutation_p.D272A|DMTN_ENST00000443491.2_Missense_Mutation_p.D247A|DMTN_ENST00000517600.1_Missense_Mutation_p.D232A|DMTN_ENST00000519907.1_Missense_Mutation_p.D272A|DMTN_ENST00000523782.2_Missense_Mutation_p.D247A|DMTN_ENST00000415253.1_Missense_Mutation_p.D272A|DMTN_ENST00000358242.3_Missense_Mutation_p.D272A|DMTN_ENST00000381470.3_Missense_Mutation_p.D272A|DMTN_ENST00000265800.5_Missense_Mutation_p.D272A	NM_001978.2	NP_001969.2	Q08495	DEMA_HUMAN	dematin actin binding protein	272	Interaction with RASGRF2.				actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|actin filament capping (GO:0051693)|actin filament reorganization (GO:0090527)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cellular response to calcium ion (GO:0071277)|cellular response to cAMP (GO:0071320)|cytoskeleton organization (GO:0007010)|erythrocyte development (GO:0048821)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of blood coagulation (GO:0030194)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of platelet aggregation (GO:1901731)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of wound healing (GO:0090303)|protein complex assembly (GO:0006461)|protein secretion by platelet (GO:0070560)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)|regulation of lamellipodium assembly (GO:0010591)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell projection membrane (GO:0031253)|cortical cytoskeleton (GO:0030863)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|protein self-association (GO:0043621)|receptor binding (GO:0005102)|spectrin binding (GO:0030507)										TCTCTGCCTGACCGGACACCC	0.522																																						ENST00000358242.3																			0											c.(814-816)gAc>gCc		dematin actin binding protein							104.0	90.0	95.0					8																	21931326		2203	4300	6503	SO:0001583	missense	2039							g.chr8:21931326A>C	U28389	CCDS6020.1, CCDS47820.1, CCDS47821.1	8p21.1	2013-05-03	2013-05-03	2013-05-03	ENSG00000158856	ENSG00000158856			3382	protein-coding gene	gene with protein product		125305	"""erythrocyte membrane protein band 4.9 (dematin)"""	EPB49		8341682, 12011427	Standard	NM_001978		Approved	DMT		Q08495	OTTHUMG00000097087	ENST00000523266.1:c.815A>C	8.37:g.21931326A>C	ENSP00000427866:p.Asp272Ala					DMTN_ENST00000265800.5_Missense_Mutation_p.D272A|DMTN_ENST00000517600.1_Missense_Mutation_p.D232A|DMTN_ENST00000381470.3_Missense_Mutation_p.D272A|DMTN_ENST00000523782.2_Missense_Mutation_p.D247A|DMTN_ENST00000443491.2_Missense_Mutation_p.D247A|DMTN_ENST00000415253.1_Missense_Mutation_p.D272A|DMTN_ENST00000523266.1_Missense_Mutation_p.D272A|DMTN_ENST00000432128.1_Missense_Mutation_p.D272A|DMTN_ENST00000519907.1_Missense_Mutation_p.D272A	p.D272A							10	1308	+								A8K0T5|B3KP70|B3KRH3|E9PEJ0|Q13215|Q9BRE3	Missense_Mutation	SNP	ENST00000523266.1	37	c.815A>C	CCDS6020.1	.	.	.	.	.	.	.	.	.	.	A	13.34	2.208227	0.39003	.	.	ENSG00000158856	ENST00000381470;ENST00000432128;ENST00000443491;ENST00000517600;ENST00000541895;ENST00000265800;ENST00000381455;ENST00000358242;ENST00000415253;ENST00000523266;ENST00000519907	T;T;T;T;T;T;T;T;T	0.31769	1.48;1.48;1.48;1.48;1.48;1.48;1.48;1.48;1.48	4.39	4.39	0.52855	.	0.122369	0.52532	D	0.000063	T	0.44414	0.1292	L	0.46614	1.455	0.54753	D	0.999982	D;D;D;D;D;D	0.89917	0.997;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.87578	0.986;0.996;0.996;0.996;0.996;0.998	T	0.22765	-1.0207	10	0.33141	T	0.24	.	10.0161	0.42016	1.0:0.0:0.0:0.0	.	211;232;272;247;247;272	E9PD40;B4DI75;Q08495;B3KRH3;E9PEJ0;Q08495-2	.;.;DEMA_HUMAN;.;.;.	A	272;272;247;232;232;272;211;272;272;272;272	ENSP00000370879:D272A;ENSP00000416111:D272A;ENSP00000397904:D247A;ENSP00000430618:D232A;ENSP00000265800:D272A;ENSP00000350977:D272A;ENSP00000401291:D272A;ENSP00000427866:D272A;ENSP00000429377:D272A	ENSP00000265800:D272A	D	+	2	0	EPB49	21987272	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	5.671000	0.68095	1.627000	0.50400	0.379000	0.24179	GAC		0.522	DMTN-009	PUTATIVE	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000375178.1	NM_001978		28	67	0	0	0	1	0	28	67				
CSPP1	79848	broad.mit.edu	37	8	68084769	68084769	+	Missense_Mutation	SNP	T	T	G			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr8:68084769T>G	ENST00000262210.5	+	23	2963	c.2932T>G	c.(2932-2934)Ttt>Gtt	p.F978V	CSPP1_ENST00000412460.1_Missense_Mutation_p.F633V|CSPP1_ENST00000521168.1_3'UTR	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	1013					positive regulation of cell division (GO:0051781)|positive regulation of cytokinesis (GO:0032467)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|spindle (GO:0005819)|spindle pole (GO:0000922)				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			TGTTCATGATTTTAATGAGCT	0.388																																						ENST00000262210.5																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49						c.(2932-2934)Ttt>Gtt		centrosome and spindle pole associated protein 1							50.0	51.0	51.0					8																	68084769		1839	4092	5931	SO:0001583	missense	79848					centrosome|microtubule|spindle		g.chr8:68084769T>G	AJ583433	CCDS43744.1	8q13.2	2014-02-24			ENSG00000104218	ENSG00000104218			26193	protein-coding gene	gene with protein product		611654				15580290, 24360807	Standard	NM_024790		Approved	FLJ22490, CSPP, JBTS21	uc003xxj.3	Q1MSJ5	OTTHUMG00000164564	ENST00000262210.5:c.2932T>G	8.37:g.68084769T>G	ENSP00000262210:p.Phe978Val					CSPP1_ENST00000412460.1_Missense_Mutation_p.F633V|CSPP1_ENST00000521168.1_3'UTR	p.F978V	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)		23	2963	+	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	1013					A6ND63|Q70F00|Q8TBC1	Missense_Mutation	SNP	ENST00000262210.5	37	c.2932T>G	CCDS43744.1	.	.	.	.	.	.	.	.	.	.	T	26.1	4.704104	0.88924	.	.	ENSG00000104218	ENST00000262210;ENST00000389042;ENST00000412460;ENST00000519668	T;T;T	0.60672	0.17;0.19;0.19	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.75243	0.3823	M	0.72894	2.215	0.44417	D	0.997335	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.996;0.998;0.997;0.997	T	0.78147	-0.2317	10	0.72032	D	0.01	-16.6361	15.5002	0.75691	0.0:0.0:0.0:1.0	.	136;633;978;1013	Q9H688;Q1MSJ5-2;Q1MSJ5-1;Q1MSJ5	.;.;.;CSPP1_HUMAN	V	978;1013;633;633	ENSP00000262210:F978V;ENSP00000415782:F633V;ENSP00000430092:F633V	ENSP00000262210:F978V	F	+	1	0	CSPP1	68247323	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.501000	0.66950	2.129000	0.65627	0.533000	0.62120	TTT		0.388	CSPP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379254.1	NM_024790		12	27	0	0	0	1	0	12	27				
MT-CYB	4519	broad.mit.edu	37	M	14760	14760	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chrM:14760G>A	ENST00000361789.2	+	1	14	c.14G>A	c.(13-15)cGc>cAc	p.R5H	MT-TP_ENST00000387461.2_RNA|MT-TS2_ENST00000387449.1_RNA|MT-TH_ENST00000387441.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-TE_ENST00000387459.1_RNA|MT-TT_ENST00000387460.2_RNA|MT-ND6_ENST00000361681.2_5'Flank			P00156	CYB_HUMAN	mitochondrially encoded cytochrome b	5					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|ubiquinol-cytochrome-c reductase activity (GO:0008121)			breast(6)|endometrium(25)|kidney(33)|prostate(1)	65						GACCCCAATACGCAAAATTAA	0.423																																						ENST00000361789.2																			0				breast(6)|endometrium(25)|kidney(33)|prostate(1)	65						c.(13-15)cGc>cAc		mitochondrially encoded cytochrome b																																				SO:0001583	missense	4519							g.chrM:14760G>A			mitochondria	2012-11-16	2005-02-15	2005-02-16	ENSG00000198727	ENSG00000198727		"""Cytochrome b genes"", ""Mitochondrial respiratory chain complex / Complex III"""	7427	protein-coding gene	gene with protein product		516020	"""cytochrome b"""	MTCYB			Standard			Approved	COB, CYTB, UQCR3		P00156		ENST00000361789.2:c.14G>A	M.37:g.14760G>A	ENSP00000354554:p.Arg5His						p.5_5insH							1	14	+								Q34786|Q8HBR6|Q8HNQ0|Q8HNQ1|Q8HNQ9|Q8HNR4|Q8HNR7|Q8W7V8|Q8WCV9|Q8WCY2|Q8WCY7|Q8WCY8|Q9B1A6|Q9B1B6|Q9B1B8|Q9B1D4|Q9B1X6|Q9B2V0|Q9B2V8|Q9B2W0|Q9B2W3|Q9B2W8|Q9B2X1|Q9B2X7|Q9B2X9|Q9B2Y3|Q9B2Z0|Q9B2Z4|Q9T6H6|Q9T9Y0|Q9TEH4	Missense_Mutation	SNP	ENST00000361789.2	37	c.14G>A																																																																																					0.423	MT-CYB-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024038		213	153	0	0	0	1	0	213	153				
LPA	4018	broad.mit.edu	37	6	160999636	160999636	+	Nonsense_Mutation	SNP	G	G	A			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr6:160999636G>A	ENST00000316300.5	-	27	4434	c.4390C>T	c.(4390-4392)Cga>Tga	p.R1464*	LPA_ENST00000447678.1_Nonsense_Mutation_p.R1464*			P08519	APOA_HUMAN	lipoprotein, Lp(a)	3972	Kringle 13. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	ACTGGACATCGTGTCAGGTTG	0.527																																						ENST00000447678.1																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107						c.(4390-4392)Cga>Tga		lipoprotein, Lp(a)	Aminocaproic Acid(DB00513)						147.0	156.0	153.0					6																	160999636		2164	4290	6454	SO:0001587	stop_gained	4018				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	g.chr6:160999636G>A	X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.4390C>T	6.37:g.160999636G>A	ENSP00000321334:p.Arg1464*					LPA_ENST00000316300.5_Nonsense_Mutation_p.R1464*	p.R1464*	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	28	4510	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)	3972			Kringle 13.		Q5VTD7|Q9UD88	Nonsense_Mutation	SNP	ENST00000316300.5	37	c.4390C>T	CCDS43523.1	.	.	.	.	.	.	.	.	.	.	g	40	8.432078	0.98808	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	.	.	.	2.37	-4.07	0.03975	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	.	9.0646	0.36455	0.0:0.0:0.5818:0.4182	.	.	.	.	X	1464	.	ENSP00000321334:R1464X	R	-	1	2	LPA	160919626	0.001000	0.12720	0.000000	0.03702	0.350000	0.29205	0.929000	0.28844	-0.794000	0.04468	0.174000	0.16983	CGA		0.527	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577		78	86	0	0	0	1	0	78	86				
SNHG14	104472715	broad.mit.edu	37	15	25304703	25304703	+	RNA	SNP	C	C	G	rs576130317		TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr15:25304703C>G	ENST00000549804.2	+	0	98				SNORD116-5_ENST00000384462.1_RNA|SNORD116-3_ENST00000384287.1_RNA|SNHG14_ENST00000384733.1_RNA|SNHG14_ENST00000547292.1_RNA					small nucleolar RNA host gene 14 (non-protein coding)																		GATGAGTCCCCCCAAAAAAAC	0.512													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20998	0.0		0.0	False		,,,				2504	0.0					ENST00000549804.2																			0																				188.0	176.0	179.0					15																	25304703		876	1991	2867			0							g.chr15:25304703C>G			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25304703C>G						SNHG14_ENST00000384733.1_RNA								0	98	+									RNA	SNP	ENST00000549804.2	37																																																																																						0.512	SNHG14-012	KNOWN	non_canonical_other|basic	antisense	processed_transcript	OTTHUMT00000408278.2			93	29	0	0	0	1	0	93	29				
ZNF345	25850	broad.mit.edu	37	19	37367691	37367691	+	De_novo_Start_OutOfFrame	SNP	T	T	G			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr19:37367691T>G	ENST00000529555.1	+	0	747				ZNF345_ENST00000526123.1_De_novo_Start_OutOfFrame|ZNF345_ENST00000589046.1_De_novo_Start_OutOfFrame|ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000420450.1_De_novo_Start_OutOfFrame			Q14585	ZN345_HUMAN	zinc finger protein 345						negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTTCAGACTATGAATCAAAGT	0.303																																						ENST00000529555.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24								zinc finger protein 345							36.0	38.0	37.0					19																	37367691		2197	4297	6494			25850				negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleus	DNA binding|zinc ion binding	g.chr19:37367691T>G	X78933	CCDS12497.1	19q13.12	2013-01-08			ENSG00000251247	ENSG00000251247		"""Zinc fingers, C2H2-type"""	16367	protein-coding gene	gene with protein product						7865130	Standard	NM_003419		Approved	HZF10	uc002oey.4	Q14585	OTTHUMG00000048162	ENST00000529555.1:c.-42T>G	19.37:g.37367691T>G						ZNF345_ENST00000526123.1_De_novo_Start_OutOfFrame|ZNF345_ENST00000589046.1_De_novo_Start_OutOfFrame|ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000420450.1_De_novo_Start_OutOfFrame				Q14585	ZN345_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		0	747	+	Esophageal squamous(110;0.183)								Translation_Start_Site	SNP	ENST00000529555.1	37		CCDS12497.1																																																																																				0.303	ZNF345-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388258.1			21	37	0	0	0	1	0	21	37				
PCDHB18	54660	broad.mit.edu	37	5	140615827	140615827	+	RNA	SNP	C	C	T			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr5:140615827C>T	ENST00000526308.1	+	0	1890					NR_001281.1		Q96TA0	PCDBI_HUMAN	protocadherin beta 18 pseudogene						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						CGCTGCAGAACGGCTCGGCGC	0.711																																						ENST00000526308.1																			0				endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18																																														0							g.chr5:140615827C>T	AF152528		5q31.3	2014-03-20			ENSG00000146001	ENSG00000146001		"""Cadherins / Protocadherins : Clustered"""	14548	pseudogene	pseudogene						10380929	Standard	NR_001281		Approved	PCDH-psi2	uc003ljc.1	Q96TA0	OTTHUMG00000167484		5.37:g.140615827C>T								NR_001281.1						0	1890	+								B3KTF8	RNA	SNP	ENST00000526308.1	37																																																																																						0.711	PCDHB18-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000394776.1			88	108	0	0	0	1	0	88	108				
FASTKD5	60493	broad.mit.edu	37	20	3128656	3128656	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr20:3128656C>A	ENST00000380266.3	-	2	1382	c.1061G>T	c.(1060-1062)cGc>cTc	p.R354L	UBOX5_ENST00000217173.2_Intron|UBOX5_ENST00000348031.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	354					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						CACTAAGGAGCGACTACTCAG	0.403																																						ENST00000380266.3																			0				breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						c.(1060-1062)cGc>cTc		FAST kinase domains 5							93.0	90.0	91.0					20																	3128656		2203	4300	6503	SO:0001583	missense	60493				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	g.chr20:3128656C>A	BC007413	CCDS13048.1	20p13	2006-07-07			ENSG00000215251	ENSG00000215251			25790	protein-coding gene	gene with protein product		614272				11347906	Standard	NM_021826		Approved	FLJ13149	uc002whz.4	Q7L8L6	OTTHUMG00000031727	ENST00000380266.3:c.1061G>T	20.37:g.3128656C>A	ENSP00000369618:p.Arg354Leu					UBOX5_ENST00000348031.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000217173.2_Intron	p.R354L	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN			2	1382	-			354					Q96JN3|Q9H5D1|Q9H8Y3	Missense_Mutation	SNP	ENST00000380266.3	37	c.1061G>T	CCDS13048.1	.	.	.	.	.	.	.	.	.	.	T	5.247	0.231003	0.09969	.	.	ENSG00000215251	ENST00000380266	T	0.14022	2.54	5.61	4.48	0.54585	.	0.111433	0.38605	N	0.001623	T	0.06096	0.0158	N	0.08118	0	0.19300	N	0.999971	B	0.02656	0.0	B	0.01281	0.0	T	0.43540	-0.9385	10	0.10636	T	0.68	.	8.4628	0.32938	0.0:0.068:0.1316:0.8004	.	354	Q7L8L6	FAKD5_HUMAN	L	354	ENSP00000369618:R354L	ENSP00000369618:R354L	R	-	2	0	FASTKD5	3076656	0.988000	0.35896	0.611000	0.29010	0.167000	0.22549	2.294000	0.43567	0.395000	0.25257	-0.516000	0.04426	CGC		0.403	FASTKD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077701.2	NM_021826		10	103	1	0	2.80697e-09	1	3.11574e-09	10	103				
RNF216	54476	broad.mit.edu	37	7	5752492	5752492	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr7:5752492C>A	ENST00000425013.2	-	12	1889	c.1665G>T	c.(1663-1665)ttG>ttT	p.L555F	RNF216_ENST00000389902.3_Missense_Mutation_p.L612F	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216	555					apoptotic process (GO:0006915)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|regulation of defense response to virus by host (GO:0050691)|regulation of interferon-beta production (GO:0032648)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)		FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		AGCTGAGCTCCAACTAGAAAA	0.423																																						ENST00000425013.2																		FBXL18/RNF216(2)	0				breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33						c.(1663-1665)ttG>ttT		ring finger protein 216							32.0	31.0	32.0					7																	5752492		2203	4300	6503	SO:0001583	missense	54476				apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding	g.chr7:5752492C>A	AY062174	CCDS34594.1, CCDS34595.1	7p22.1	2014-02-12	2007-08-20		ENSG00000011275	ENSG00000011275		"""RING-type (C3HC4) zinc fingers"""	21698	protein-coding gene	gene with protein product		609948					Standard	NM_207111		Approved	TRIAD3, UBCE7IP1, ZIN	uc003sox.2	Q9NWF9	OTTHUMG00000155500	ENST00000425013.2:c.1665G>T	7.37:g.5752492C>A	ENSP00000404602:p.Leu555Phe					RNF216_ENST00000389902.3_Missense_Mutation_p.L612F	p.L555F	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)	12	1889	-		Ovarian(82;0.07)	555					Q6Y691|Q75ML7|Q7Z2H7|Q7Z7C1|Q8NHW7|Q9NYT1	Missense_Mutation	SNP	ENST00000425013.2	37	c.1665G>T	CCDS34595.1	.	.	.	.	.	.	.	.	.	.	C	8.670	0.902562	0.17760	.	.	ENSG00000011275	ENST00000425013;ENST00000389902;ENST00000458425	T;T	0.29917	1.55;1.55	5.72	-3.26	0.05064	.	0.234798	0.36932	N	0.002321	T	0.08714	0.0216	N	0.04090	-0.28	0.20873	N	0.999836	B;B	0.28378	0.001;0.209	B;B	0.32393	0.008;0.145	T	0.26883	-1.0090	10	0.10377	T	0.69	-4.8522	1.5001	0.02474	0.2157:0.1411:0.3785:0.2646	.	555;612	Q9NWF9;Q9NWF9-1	RN216_HUMAN;.	F	555;612;367	ENSP00000404602:L555F;ENSP00000374552:L612F	ENSP00000374552:L612F	L	-	3	2	RNF216	5719018	0.997000	0.39634	0.990000	0.47175	0.921000	0.55340	0.369000	0.20416	-0.444000	0.07170	-0.312000	0.09012	TTG		0.423	RNF216-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000340374.1	NM_207111		6	54	1	0	0.217242	1	0.217242	6	54				
SCN2A	6326	broad.mit.edu	37	2	166165867	166165867	+	Missense_Mutation	SNP	T	T	A			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr2:166165867T>A	ENST00000375437.2	+	6	901	c.611T>A	c.(610-612)gTg>gAg	p.V204E	SCN2A_ENST00000283256.6_Missense_Mutation_p.V204E|SCN2A_ENST00000357398.3_Intron|SCN2A_ENST00000375427.2_Intron	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	204					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TACAGATATGTGACAGAGTTT	0.428																																						ENST00000375437.2																			0				NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(610-612)gTg>gAg		sodium channel, voltage-gated, type II, alpha subunit	Lamotrigine(DB00555)						84.0	78.0	80.0					2																	166165867		2203	4299	6502	SO:0001583	missense	6326				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166165867T>A	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.611T>A	2.37:g.166165867T>A	ENSP00000364586:p.Val204Glu					SCN2A_ENST00000357398.3_Intron|SCN2A_ENST00000283256.6_Missense_Mutation_p.V204E|SCN2A_ENST00000375427.2_Intron	p.V204E	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN			6	901	+			204					A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	ENST00000375437.2	37	c.611T>A	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	T	18.67	3.674228	0.67928	.	.	ENSG00000136531	ENST00000424833;ENST00000375437;ENST00000283256	D;D;D	0.98876	-5.2;-5.2;-5.2	5.48	5.48	0.80851	Ion transport (1);	.	.	.	.	D	0.99372	0.9779	H	0.95745	3.715	0.80722	D	1	D	0.64830	0.994	D	0.68483	0.958	D	0.98597	1.0657	9	0.87932	D	0	.	15.8549	0.78968	0.0:0.0:0.0:1.0	.	204	Q99250	SCN2A_HUMAN	E	204	ENSP00000406454:V204E;ENSP00000364586:V204E;ENSP00000283256:V204E	ENSP00000283256:V204E	V	+	2	0	SCN2A	165874113	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.206000	0.71126	0.533000	0.62120	GTG		0.428	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		35	22	0	0	0	1	0	35	22				
ARSB	411	broad.mit.edu	37	5	78280984	78280984	+	Silent	SNP	G	G	A			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr5:78280984G>A	ENST00000264914.4	-	1	624	c.88C>T	c.(88-90)Ctg>Ttg	p.L30L	ARSB_ENST00000565165.1_Silent_p.L30L|ARSB_ENST00000396151.3_Silent_p.L30L	NM_000046.3	NP_000037.2	P15848	ARSB_HUMAN	arylsulfatase B	30					autophagy (GO:0006914)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|central nervous system development (GO:0007417)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|lysosomal transport (GO:0007041)|lysosome organization (GO:0007040)|post-translational protein modification (GO:0043687)|response to estrogen (GO:0043627)|response to methylmercury (GO:0051597)|response to nutrient (GO:0007584)|response to pH (GO:0009268)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|rough endoplasmic reticulum (GO:0005791)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)|N-acetylgalactosamine-4-sulfatase activity (GO:0003943)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)		gccAACAACAGCAGCAGCAGC	0.751																																					Melanoma(169;563 1968 25780 26156 52266)	ENST00000264914.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(88-90)Ctg>Ttg		arylsulfatase B							3.0	4.0	3.0					5																	78280984		1372	3025	4397	SO:0001819	synonymous_variant	411				lysosomal transport|lysosome organization	lysosome	arylsulfatase activity|metal ion binding|N-acetylgalactosamine-4-sulfatase activity	g.chr5:78280984G>A	M32373	CCDS4043.1, CCDS43334.1	5q14.1	2013-02-14			ENSG00000113273	ENSG00000113273	3.1.6.1	"""Arylsulfatase family"""	714	protein-coding gene	gene with protein product		611542				2303452	Standard	NM_000046		Approved		uc003kfq.3	P15848	OTTHUMG00000108129	ENST00000264914.4:c.88C>T	5.37:g.78280984G>A						ARSB_ENST00000565165.1_Silent_p.L30L|ARSB_ENST00000396151.3_Silent_p.L30L	p.L30L	NM_000046.3	NP_000037.2	P15848	ARSB_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)	1	624	-		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)	30					B2RC20|Q8N322|Q9UDI9	Silent	SNP	ENST00000264914.4	37	c.88C>T	CCDS4043.1																																																																																				0.751	ARSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226932.2	NM_000046		4	22	0	0	0	1	0	4	22				
SGMS2	166929	broad.mit.edu	37	4	108816771	108816771	+	Missense_Mutation	SNP	C	C	A	rs17038204	byFrequency	TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr4:108816771C>A	ENST00000394684.4	+	3	619	c.62C>A	c.(61-63)aCg>aAg	p.T21K	SGMS2_ENST00000394686.3_Missense_Mutation_p.T21K|RP11-286E11.1_ENST00000499098.1_RNA|RP11-286E11.1_ENST00000513071.1_RNA|SGMS2_ENST00000359079.4_Missense_Mutation_p.T21K	NM_001136258.1	NP_001129730.1	Q8NHU3	SMS2_HUMAN	sphingomyelin synthase 2	21			T -> M (in dbSNP:rs17038204).		small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)	Golgi apparatus (GO:0005794)|integral component of cell outer membrane (GO:0045203)|integral component of Golgi membrane (GO:0030173)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ceramide cholinephosphotransferase activity (GO:0047493)|kinase activity (GO:0016301)|sphingomyelin synthase activity (GO:0033188)			central_nervous_system(1)|endometrium(2)|large_intestine(8)|liver(2)|lung(6)|prostate(1)	20				OV - Ovarian serous cystadenocarcinoma(123;2.95e-05)		AGTGATCCTACGAACACTTAT	0.423																																						ENST00000394684.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(8)|liver(2)|lung(6)|prostate(1)	20						c.(61-63)aCg>aAg		sphingomyelin synthase 2	Choline(DB00122)						122.0	116.0	118.0					4																	108816771		2203	4300	6503	SO:0001583	missense	166929				sphingomyelin biosynthetic process	integral to Golgi membrane|integral to plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity	g.chr4:108816771C>A	BC041369	CCDS3677.1	4q25	2008-02-05			ENSG00000164023	ENSG00000164023	2.7.8.27		28395	protein-coding gene	gene with protein product		611574				14685263	Standard	NM_152621		Approved	MGC26963, SMS2	uc003hyl.4	Q8NHU3	OTTHUMG00000131811	ENST00000394684.4:c.62C>A	4.37:g.108816771C>A	ENSP00000378176:p.Thr21Lys					RP11-286E11.1_ENST00000499098.1_RNA|SGMS2_ENST00000394686.3_Missense_Mutation_p.T21K|SGMS2_ENST00000359079.4_Missense_Mutation_p.T21K|RP11-286E11.1_ENST00000513071.1_RNA	p.T21K	NM_001136258.1	NP_001129730.1	Q8NHU3	SMS2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.95e-05)	3	619	+			21		T -> M (in dbSNP:rs17038204).			A8K2S9|B2RA61	Missense_Mutation	SNP	ENST00000394684.4	37	c.62C>A	CCDS3677.1	.	.	.	.	.	.	.	.	.	.	C	6.223	0.409350	0.11812	.	.	ENSG00000164023	ENST00000394684;ENST00000359079;ENST00000506993;ENST00000394686;ENST00000503385	T;T;T;T;T	0.51817	0.95;0.95;0.69;0.95;0.76	5.97	5.97	0.96955	.	0.703523	0.14126	N	0.339718	T	0.28699	0.0711	N	0.08118	0	0.09310	N	1	B	0.12630	0.006	B	0.08055	0.003	T	0.09530	-1.0670	9	.	.	.	-9.1965	13.6104	0.62074	0.0:0.9296:0.0:0.0704	.	21	Q8NHU3	SMS2_HUMAN	K	21	ENSP00000378176:T21K;ENSP00000351981:T21K;ENSP00000428294:T21K;ENSP00000378178:T21K;ENSP00000430172:T21K	.	T	+	2	0	SGMS2	109036220	0.007000	0.16637	0.008000	0.14137	0.001000	0.01503	2.228000	0.42981	2.836000	0.97738	0.655000	0.94253	ACG		0.423	SGMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254752.1	NM_152621		11	125	1	0	3.07112e-06	1	3.3421e-06	11	125				
IFI16	3428	broad.mit.edu	37	1	159002348	159002348	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr1:159002348C>T	ENST00000295809.7	+	7	1451	c.1196C>T	c.(1195-1197)cCc>cTc	p.P399L	IFI16_ENST00000368131.4_Missense_Mutation_p.P399L|IFI16_ENST00000368132.3_Missense_Mutation_p.P399L|IFI16_ENST00000430894.2_Missense_Mutation_p.P347L|IFI16_ENST00000448393.2_Missense_Mutation_p.P399L|IFI16_ENST00000359709.3_Missense_Mutation_p.P343L|IFI16_ENST00000340979.6_Missense_Mutation_p.P399L			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	399					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of innate immune response (GO:0002218)|autophagy (GO:0006914)|cell proliferation (GO:0008283)|cellular response to glucose starvation (GO:0042149)|cellular response to ionizing radiation (GO:0071479)|defense response to virus (GO:0051607)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|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)|monocyte differentiation (GO:0030224)|myeloid cell differentiation (GO:0030099)|negative regulation of cysteine-type endopeptidase activity (GO:2000117)|negative regulation of DNA binding (GO:0043392)|negative regulation of innate immune response (GO:0045824)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|positive regulation of cytokine production (GO:0001819)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of autophagy (GO:0010506)|regulation of gene expression, epigenetic (GO:0040029)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					AACAATGACCCCAAGAGCATG	0.428																																						ENST00000295809.7																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1195-1197)cCc>cTc		interferon, gamma-inducible protein 16							97.0	90.0	92.0					1																	159002348		2203	4300	6503	SO:0001583	missense	3428				cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding	g.chr1:159002348C>T	M63838	CCDS1180.3, CCDS58039.1	1q22	2008-02-05			ENSG00000163565	ENSG00000163565			5395	protein-coding gene	gene with protein product		147586				1526658, 7959953	Standard	NM_005531		Approved	IFNGIP1, PYHIN2	uc010pis.2	Q16666	OTTHUMG00000037108	ENST00000295809.7:c.1196C>T	1.37:g.159002348C>T	ENSP00000295809:p.Pro399Leu					IFI16_ENST00000430894.2_Missense_Mutation_p.P347L|IFI16_ENST00000448393.2_Missense_Mutation_p.P399L|IFI16_ENST00000368131.4_Missense_Mutation_p.P399L|IFI16_ENST00000340979.6_Missense_Mutation_p.P399L|IFI16_ENST00000368132.3_Missense_Mutation_p.P399L|IFI16_ENST00000359709.3_Missense_Mutation_p.P343L	p.P399L			Q16666	IF16_HUMAN			7	1451	+	all_hematologic(112;0.0429)		399					B4DJT8|H3BLV7|Q59GX0|Q5T3W7|Q5T3W8|Q5T3X0|Q5T3X1|Q5T3X2|Q8N9E5|Q8NEQ7|Q96AJ5|Q9UH78	Missense_Mutation	SNP	ENST00000295809.7	37	c.1196C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.31|11.31	1.602404|1.602404	0.28534|0.28534	.|.	.|.	ENSG00000163565|ENSG00000163565	ENST00000295809;ENST00000340979;ENST00000368131;ENST00000368132;ENST00000430894|ENST00000448393	T;T;T;T;T|.	0.04406|.	3.67;3.72;3.63;3.63;3.7|.	2.15|2.15	-1.57|-1.57	0.08506|0.08506	.|.	.|.	.|.	.|.	.|.	T|T	0.05823|0.05823	0.0152|0.0152	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	1|1	B;P|.	0.45827|.	0.032;0.867|.	B;B|.	0.41202|.	0.022;0.35|.	T|T	0.36841|0.36841	-0.9731|-0.9731	9|6	0.56958|0.12766	D|T	0.05|0.61	.|.	0.8732|0.8732	0.01218|0.01218	0.2333:0.3772:0.23:0.1595|0.2333:0.3772:0.23:0.1595	.|.	347;399|.	E7EPR3;Q16666-2|.	.;.|.	L|S	399;399;399;399;347|220	ENSP00000295809:P399L;ENSP00000342741:P399L;ENSP00000357113:P399L;ENSP00000357114:P399L;ENSP00000394935:P347L|.	ENSP00000295809:P399L|ENSP00000404325:P220S	P|P	+|+	2|1	0|0	IFI16|IFI16	157268972|157268972	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	-0.513000|-0.513000	0.06305|0.06305	-0.384000|-0.384000	0.07845|0.07845	0.462000|0.462000	0.41574|0.41574	CCC|CCA		0.428	IFI16-013	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000421720.1	NM_005531		31	40	0	0	0	1	0	31	40				
GLYCTK	132158	broad.mit.edu	37	3	52324395	52324395	+	Nonsense_Mutation	SNP	C	C	T			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr3:52324395C>T	ENST00000436784.2	+	2	97	c.37C>T	c.(37-39)Cga>Tga	p.R13*	GLYCTK_ENST00000461183.1_Intron|GLYCTK_ENST00000471180.1_Intron|GLYCTK_ENST00000305690.8_Nonsense_Mutation_p.R13*|GLYCTK_ENST00000473032.1_Nonsense_Mutation_p.R13*|GLYCTK_ENST00000477382.1_Nonsense_Mutation_p.R13*|GLYCTK_ENST00000354773.4_Nonsense_Mutation_p.R13*|GLYCTK-AS1_ENST00000493616.1_RNA			Q8IVS8	GLCTK_HUMAN	glycerate kinase	13					protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|glycerate kinase activity (GO:0008887)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	9				BRCA - Breast invasive adenocarcinoma(193;3.56e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)|OV - Ovarian serous cystadenocarcinoma(275;0.235)		CCGCTTGGCCCGAGCCCCCTT	0.657																																						ENST00000354773.4																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	9						c.(37-39)Cga>Tga		glycerate kinase							14.0	17.0	16.0					3																	52324395		2159	4223	6382	SO:0001587	stop_gained	132158				protein phosphorylation	Golgi apparatus|mitochondrion	ATP binding|glycerate kinase activity|protein binding	g.chr3:52324395C>T		CCDS2852.1, CCDS46841.1	3p21.1	2008-01-22			ENSG00000168237	ENSG00000168237	2.7.1.31		24247	protein-coding gene	gene with protein product		610516				16753811	Standard	NM_145262		Approved	HBEBP4, HBEBP2	uc003ddo.3	Q8IVS8	OTTHUMG00000158380	ENST00000436784.2:c.37C>T	3.37:g.52324395C>T	ENSP00000389175:p.Arg13*					GLYCTK_ENST00000477382.1_Nonsense_Mutation_p.R13*|GLYCTK_ENST00000461183.1_Intron|GLYCTK_ENST00000436784.2_Nonsense_Mutation_p.R13*|GLYCTK_ENST00000473032.1_Nonsense_Mutation_p.R13*|GLYCTK_ENST00000305690.8_Nonsense_Mutation_p.R13*|GLYCTK_ENST00000471180.1_Intron|GLYCTK-AS1_ENST00000493616.1_RNA	p.R13*	NM_001144951.1	NP_001138423.1	Q8IVS8	GLCTK_HUMAN		BRCA - Breast invasive adenocarcinoma(193;3.56e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)|OV - Ovarian serous cystadenocarcinoma(275;0.235)	2	133	+			13					Q0P630|Q2EZ43|Q6Y2K6|Q7Z6G5|Q86YR8|Q8TED2|Q8WTY2	Nonsense_Mutation	SNP	ENST00000436784.2	37	c.37C>T	CCDS2852.1	.	.	.	.	.	.	.	.	.	.	C	32	5.158634	0.94686	.	.	ENSG00000168237	ENST00000473032;ENST00000305690;ENST00000354773;ENST00000436784;ENST00000477382;ENST00000411757	.	.	.	5.59	2.72	0.32119	.	0.167775	0.41500	D	0.000879	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.0239	7.3434	0.26650	0.55:0.369:0.0:0.081	.	.	.	.	X	13	.	ENSP00000301965:R13X	R	+	1	2	GLYCTK	52299435	0.001000	0.12720	0.978000	0.43139	0.991000	0.79684	-0.063000	0.11655	0.654000	0.30846	0.655000	0.94253	CGA		0.657	GLYCTK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350835.1	NM_145262		28	4	0	0	0	1	0	28	4				
KCNAB2	8514	broad.mit.edu	37	1	6149094	6149094	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr1:6149094delG	ENST00000164247.1	+	9	962	c.398delG	c.(397-399)aggfs	p.R133fs	KCNAB2_ENST00000378092.1_Frame_Shift_Del_p.R119fs|KCNAB2_ENST00000378111.1_Intron|KCNAB2_ENST00000352527.1_Frame_Shift_Del_p.R119fs|KCNAB2_ENST00000378087.3_Intron|KCNAB2_ENST00000341524.1_Frame_Shift_Del_p.R133fs|KCNAB2_ENST00000378097.1_Frame_Shift_Del_p.R133fs|KCNAB2_ENST00000378083.3_Frame_Shift_Del_p.R166fs|KCNAB2_ENST00000602612.1_Frame_Shift_Del_p.R133fs|KCNAB2_ENST00000458166.2_Frame_Shift_Del_p.R66fs	NM_001199860.1	NP_001186789.1	Q13303	KCAB2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 2	133					hematopoietic progenitor cell differentiation (GO:0002244)|protein heterooligomerization (GO:0051291)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|plasma membrane (GO:0005886)	potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity (GO:0005249)			large_intestine(1)|lung(4)|skin(3)	8	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;4.88e-22)|all_lung(118;4.21e-08)|Lung NSC(185;9.77e-07)|all_hematologic(16;2.78e-06)|all_neural(13;3.18e-06)|Acute lymphoblastic leukemia(12;0.000272)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00106)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)		Epithelial(90;6.9e-37)|GBM - Glioblastoma multiforme(13;8.8e-31)|OV - Ovarian serous cystadenocarcinoma(86;1.45e-19)|Colorectal(212;2.46e-07)|COAD - Colon adenocarcinoma(227;2.07e-05)|Kidney(185;7.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00131)|BRCA - Breast invasive adenocarcinoma(365;0.00133)|STAD - Stomach adenocarcinoma(132;0.00391)|READ - Rectum adenocarcinoma(331;0.0649)		GGCCTGTCCAGGAAGCACATA	0.632																																						ENST00000164247.1																			0				large_intestine(1)|lung(4)|skin(3)	8						c.(397-399)agfs		potassium voltage-gated channel, shaker-related subfamily, beta member 2							52.0	48.0	49.0					1																	6149094		1977	3858	5835	SO:0001589	frameshift_variant	8514					cytoplasm|integral to membrane|juxtaparanode region of axon	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity	g.chr1:6149094delG	U33429	CCDS55.1, CCDS56.1, CCDS55570.1, CCDS55571.1	1p36.3	2008-02-05			ENSG00000069424	ENSG00000069424		"""Potassium channels"", ""Aldo-keto reductases"""	6229	protein-coding gene	gene with protein product		601142				8838324	Standard	NM_003636		Approved	AKR6A5, KCNA2B, HKvbeta2.1, HKvbeta2.2	uc001aly.2	Q13303	OTTHUMG00000000795	ENST00000164247.1:c.398delG	1.37:g.6149094delG	ENSP00000164247:p.Arg133fs					KCNAB2_ENST00000378111.1_Intron|KCNAB2_ENST00000378092.1_Frame_Shift_Del_p.R119fs|KCNAB2_ENST00000458166.2_Frame_Shift_Del_p.R66fs|KCNAB2_ENST00000378083.3_Frame_Shift_Del_p.R166fs|KCNAB2_ENST00000378087.3_Intron|KCNAB2_ENST00000378097.1_Frame_Shift_Del_p.R133fs|KCNAB2_ENST00000352527.1_Frame_Shift_Del_p.R119fs|KCNAB2_ENST00000341524.1_Frame_Shift_Del_p.R133fs|KCNAB2_ENST00000602612.1_Frame_Shift_Del_p.R133fs	p.R133fs	NM_001199860.1	NP_001186789.1	Q13303	KCAB2_HUMAN		Epithelial(90;6.9e-37)|GBM - Glioblastoma multiforme(13;8.8e-31)|OV - Ovarian serous cystadenocarcinoma(86;1.45e-19)|Colorectal(212;2.46e-07)|COAD - Colon adenocarcinoma(227;2.07e-05)|Kidney(185;7.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00131)|BRCA - Breast invasive adenocarcinoma(365;0.00133)|STAD - Stomach adenocarcinoma(132;0.00391)|READ - Rectum adenocarcinoma(331;0.0649)	9	962	+	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;4.88e-22)|all_lung(118;4.21e-08)|Lung NSC(185;9.77e-07)|all_hematologic(16;2.78e-06)|all_neural(13;3.18e-06)|Acute lymphoblastic leukemia(12;0.000272)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00106)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)	133					A0AVM9|A8K1A4|B0AZR7|O43659|Q5TG82|Q5TG83|Q6ZNE4|Q99411	Frame_Shift_Del	DEL	ENST00000164247.1	37	c.398delG	CCDS55.1																																																																																				0.632	KCNAB2-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000002114.3	NM_172130		2	4						2	4	---	---	---	---
SPEN	23013	broad.mit.edu	37	1	16202965	16202978	+	Frame_Shift_Del	DEL	ACCCGGGAGGTACG	ACCCGGGAGGTACG	-	rs146447271|rs550385254|rs139125517		TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr1:16202965_16202978delACCCGGGAGGTACG	ENST00000375759.3	+	3	877_890	c.673_686delACCCGGGAGGTACG	c.(673-687)acccgggaggtacgafs	p.TREVR225fs	SPEN_ENST00000471538.1_3'UTR	NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	225	Arg-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GGATGATATTACCCGGGAGGTACGAGGCAGAAGG	0.528																																						ENST00000375759.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149						c.(673-687)afs		spen family transcriptional repressor																																				SO:0001589	frameshift_variant	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16202965_16202978delACCCGGGAGGTACG		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.673_686delACCCGGGAGGTACG	1.37:g.16202965_16202978delACCCGGGAGGTACG	ENSP00000364912:p.Thr225fs					SPEN_ENST00000471538.1_3'UTR	p.TREVR225fs	NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	3	877_890	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	225			Arg-rich.		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Frame_Shift_Del	DEL	ENST00000375759.3	37	c.673_686delACCCGGGAGGTACG	CCDS164.1																																																																																				0.528	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		46	105						46	105	---	---	---	---
LOC101928460	101928460	broad.mit.edu	37	1	29673168	29673168	+	lincRNA	DEL	C	C	-			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr1:29673168delC	ENST00000417651.1	-	0	432																											GGGGTGCGGGCCCCTTCCCTT	0.577																																						ENST00000417651.1																			0																																																			0							g.chr1:29673168delC																													1.37:g.29673168delC														0	432	-									RNA	DEL	ENST00000417651.1	37																																																																																						0.577	RP3-437I16.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000011215.1			2	4						2	4	---	---	---	---
RP11-776H12.1	0	broad.mit.edu	37	1	61088114	61088115	+	lincRNA	DEL	AC	AC	-	rs150426572		TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr1:61088114_61088115delAC	ENST00000439156.2	-	0	336																											cttcttatagacacacacacac	0.426																																						ENST00000439156.2																			0																																																			0							g.chr1:61088114_61088115delAC																													1.37:g.61088124_61088125delAC														0	336	-									RNA	DEL	ENST00000439156.2	37																																																																																						0.426	RP11-776H12.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000027657.2			3	3						3	3	---	---	---	---
LINC01221	104266961	broad.mit.edu	37	1	199000355	199000355	+	lincRNA	DEL	A	A	-			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr1:199000355delA	ENST00000432488.1	+	0	333																											atgcaagtccaaaaatccagt	0.433																																						ENST00000432488.1																			0																																																			0							g.chr1:199000355delA																													1.37:g.199000355delA														0	333	+									RNA	DEL	ENST00000432488.1	37																																																																																						0.433	RP11-16L9.4-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000087442.1			2	4						2	4	---	---	---	---
AC016995.3	0	broad.mit.edu	37	2	38710019	38710019	+	lincRNA	DEL	T	T	-	rs2005502|rs57303101|rs538061888|rs200292719	byFrequency	TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr2:38710019delT	ENST00000417039.1	-	0	696																											CTTtaaaaaataaataaataa	0.244																																						ENST00000417039.1																			0																																																			0							g.chr2:38710019delT																													2.37:g.38710019delT														0	696	-									RNA	DEL	ENST00000417039.1	37																																																																																						0.244	AC016995.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000331173.1			3	4						3	4	---	---	---	---
RP11-444A22.1	0	broad.mit.edu	37	2	60002943	60002944	+	lincRNA	INS	-	-	C	rs386355011|rs386390279|rs367970608|rs34827118	byFrequency	TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr2:60002943_60002944insC	ENST00000606382.1	-	0	236																											cttcttTGCAGCCCCCATTCAC	0.515													CCCCC|CCCCC|CCCCCC|insertion	904	0.180511	0.2201	0.2161	5008	,	,		16596	0.1161		0.174	False		,,,				2504	0.1748					ENST00000606382.1																			0																																																			0							g.chr2:60002943_60002944insC																													2.37:g.60002948_60002948dupC														0	236	-									RNA	INS	ENST00000606382.1	37																																																																																						0.515	RP11-444A22.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000470681.1			4	2						4	2	---	---	---	---
CACNA1D	776	broad.mit.edu	37	3	53529193	53529195	+	Start_Codon_Del	DEL	GAT	GAT	-			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr3:53529193_53529195delGAT	ENST00000350061.5	+	0	511_513				CACNA1D_ENST00000288139.4_Start_Codon_Del|CACNA1D_ENST00000422281.2_Start_Codon_Del	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit						adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	aatgttcgtGgatgatgatgatg	0.581																																						ENST00000288139.3																			0				breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90								calcium channel, voltage-dependent, L type, alpha 1D subunit	Verapamil(DB00661)																																			SO:0001582	initiator_codon_variant	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53529193_53529195delGAT	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278		3.37:g.53529202_53529204delGAT						CACNA1D_ENST00000350061.5_Start_Codon_Del|CACNA1D_ENST00000422281.2_Start_Codon_Del		NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	0	118_120	+								B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Translation_Start_Site	DEL	ENST00000350061.5	37		CCDS46848.1																																																																																				0.581	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		10	117						10	117	---	---	---	---
IGFBP7-AS1	255130	broad.mit.edu	37	4	58030362	58030362	+	RNA	DEL	G	G	-			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr4:58030362delG	ENST00000499667.2	+	0	209				IGFBP7-AS1_ENST00000508328.1_RNA	NR_034081.1				IGFBP7 antisense RNA 1																		AGAGGGCACCGTCGTCACACA	0.697											OREG0009156|OREG0016209	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)|type=TRANSCRIPTION FACTOR BINDING SITE|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip); Conservation found by scanning with a motif model																										ENST00000499667.2																			0																																																			0							g.chr4:58030362delG			4q12	2013-09-17			ENSG00000245067	ENSG00000245067		"""Long non-coding RNAs"""	40296	non-coding RNA	RNA, long non-coding							Standard	NR_034081		Approved				OTTHUMG00000161143		4.37:g.58030362delG			OREG0009156|OREG0016209	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)|type=TRANSCRIPTION FACTOR BINDING SITE|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip); Conservation found by scanning with a motif model	1027	RP11-12A1.1_ENST00000508328.1_RNA		NR_034081.1						0	209	+									RNA	DEL	ENST00000499667.2	37																																																																																						0.697	IGFBP7-AS1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000363941.3			2	4						2	4	---	---	---	---
LOC101926941	101926941	broad.mit.edu	37	5	141755516	141755516	+	RNA	DEL	T	T	-			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr5:141755516delT	ENST00000510311.1	+	0	506				AC005592.2_ENST00000514303.1_RNA																							GCAACTGGGATTTTGCAGCCT	0.453																																						ENST00000510311.1																			0																																																			0							g.chr5:141755516delT																													5.37:g.141755516delT														0	506	+									RNA	DEL	ENST00000510311.1	37																																																																																						0.453	AC005592.2-004	KNOWN	basic	antisense	antisense	OTTHUMT00000370676.1			2	4						2	4	---	---	---	---
CTB-12O2.1	101927115	broad.mit.edu	37	5	151396111	151396114	+	lincRNA	DEL	GGTG	GGTG	-	rs70976042	byFrequency	TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr5:151396111_151396114delGGTG	ENST00000524295.1	+	0	199																											gaggtttcttggtgggtgtgggtg	0.407														1907	0.380791	0.3646	0.4294	5008	,	,		19319	0.4802		0.3588	False		,,,				2504	0.2883					ENST00000524295.1																			0																																																			0							g.chr5:151396111_151396114delGGTG																													5.37:g.151396115_151396118delGGTG														0	199	+									RNA	DEL	ENST00000524295.1	37																																																																																						0.407	CTB-12O2.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000373979.1			5	1						5	1	---	---	---	---
UBE2R2	54926	broad.mit.edu	37	9	33816937	33816937	+	5'Flank	DEL	G	G	-			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr9:33816937delG	ENST00000263228.3	+	0	0				RP11-133O22.6_ENST00000454429.2_RNA	NM_017811.3	NP_060281.2	Q712K3	UB2R2_HUMAN	ubiquitin-conjugating enzyme E2R 2						protein K48-linked ubiquitination (GO:0070936)|protein monoubiquitination (GO:0006513)		acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8			LUSC - Lung squamous cell carcinoma(29;0.0176)	GBM - Glioblastoma multiforme(74;0.188)		CTTTATGGGCGGGGGACACGC	0.682																																						ENST00000454429.2																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr9:33816937delG	AK000426	CCDS6546.1	9p11.2	2008-02-05			ENSG00000107341	ENSG00000107341		"""Ubiquitin-conjugating enzymes E2"""	19907	protein-coding gene	gene with protein product		612506				12037680	Standard	XM_005251496		Approved	UBC3B, CDC34B, FLJ20419, MGC10481	uc003ztm.3	Q712K3	OTTHUMG00000019797		9.37:g.33816937delG	Exception_encountered													0	169	-								D3DRL5|Q9NX64	RNA	DEL	ENST00000263228.3	37		CCDS6546.1																																																																																				0.682	UBE2R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052118.1	NM_017811		2	4						2	4	---	---	---	---
LINC00842	643650	broad.mit.edu	37	10	47123114	47123115	+	lincRNA	DEL	TA	TA	-			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr10:47123114_47123115delTA	ENST00000422732.2	-	0	435					NR_033957.2				long intergenic non-protein coding RNA 842																		caaataaggttatagtcacagg	0.361																																						ENST00000422732.2																			0																																																			0							g.chr10:47123114_47123115delTA			10q11.22	2013-01-04			ENSG00000223477	ENSG00000274909		"""Long non-coding RNAs"""	44989	non-coding RNA	RNA, long non-coding							Standard	NR_033957		Approved		uc001jef.3		OTTHUMG00000018109		10.37:g.47123116_47123117delTA								NR_033957.1						0	435	-									RNA	DEL	ENST00000422732.2	37																																																																																						0.361	LINC00842-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000047838.2	NR_033957		2	4						2	4	---	---	---	---
OR5L2	26338	broad.mit.edu	37	11	55595238	55595238	+	Frame_Shift_Del	DEL	C	C	-			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr11:55595238delC	ENST00000378397.1	+	1	544	c.544delC	c.(544-546)cccfs	p.P183fs		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	183						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				CTGTGATCTACCCCCTCTCCT	0.453										HNSCC(27;0.073)																												ENST00000378397.1																			0				breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59						c.(544-546)ccfs		olfactory receptor, family 5, subfamily L, member 2							244.0	220.0	228.0					11																	55595238		2200	4296	6496	SO:0001589	frameshift_variant	26338				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55595238delC	AB065782	CCDS31511.1	11q11	2012-08-09			ENSG00000205030	ENSG00000205030		"""GPCR / Class A : Olfactory receptors"""	8351	protein-coding gene	gene with protein product						1370859	Standard	NM_001004739		Approved	HTPCRX16, HSHTPCRX16	uc001nhy.1	Q8NGL0	OTTHUMG00000166812	ENST00000378397.1:c.544delC	11.37:g.55595238delC	ENSP00000367650:p.Pro183fs	HNSCC(27;0.073)					p.P183fs	NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN			1	544	+		all_epithelial(135;0.208)	183					Q6IF66|Q96RB2	Frame_Shift_Del	DEL	ENST00000378397.1	37	c.544delC	CCDS31511.1																																																																																				0.453	OR5L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391516.1	NM_001004739		119	187						119	187	---	---	---	---
RP11-415I12.3	0	broad.mit.edu	37	12	64090772	64090772	+	RNA	DEL	C	C	-			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr12:64090772delC	ENST00000509615.2	-	0	238				RP11-415I12.2_ENST00000541353.1_RNA																							atggtctataccccctcagga	0.478																																						ENST00000509615.2																			0																																																			0							g.chr12:64090772delC																													12.37:g.64090772delC						RP11-415I12.2_ENST00000541353.1_RNA								0	238	-									RNA	DEL	ENST00000509615.2	37																																																																																						0.478	RP11-415I12.3-001	KNOWN	basic	antisense	antisense	OTTHUMT00000400798.1			2	4						2	4	---	---	---	---
IFNG-AS1	100885789	broad.mit.edu	37	12	68543691	68543692	+	RNA	DEL	AT	AT	-			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr12:68543691_68543692delAT	ENST00000536914.1	+	0	336									IFNG antisense RNA 1																		gatggggtgaatatatatgtgt	0.441																																						ENST00000536914.1																			0																																																			0							g.chr12:68543691_68543692delAT	AK124066, BF510189		12q15	2013-10-07	2012-08-15		ENSG00000255733	ENSG00000255733		"""Long non-coding RNAs"", ""-"""	43910	non-coding RNA	RNA, long non-coding	"""Theiler's murine encephalomyelitis virus persistence candidate gene 1"""		"""IFNG antisense RNA 1 (non-protein coding)"""			11735227, 24056746	Standard	NR_104124		Approved	Tmevpg1, LincR-Ifng-3'AS			OTTHUMG00000169108		12.37:g.68543697_68543698delAT														0	336	+									RNA	DEL	ENST00000536914.1	37																																																																																						0.441	IFNG-AS1-003	KNOWN	basic	antisense	antisense	OTTHUMT00000402296.1			2	4						2	4	---	---	---	---
CSPG4P5	114817	broad.mit.edu	37	15	84957480	84957499	+	RNA	DEL	GGCCCCACATCCATTGAGAA	GGCCCCACATCCATTGAGAA	-	rs554759799|rs529134831|rs548880213	byFrequency	TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr15:84957480_84957499delGGCCCCACATCCATTGAGAA	ENST00000558801.1	-	0	7230_7249									DNM1 pseudogene 51																		TGTGTGCACTGGCCCCACATCCATTGAGAAGGCCCCACAT	0.586														762	0.152157	0.146	0.3256	5008	,	,		24353	0.1339		0.1481	False		,,,				2504	0.0603					ENST00000558801.1																			0																																																			0							g.chr15:84957480_84957499delGGCCCCACATCCATTGAGAA			15q25.2	2013-05-16			ENSG00000259297	ENSG00000235370			48500	pseudogene	pseudogene							Standard			Approved				OTTHUMG00000172438		15.37:g.84957480_84957499delGGCCCCACATCCATTGAGAA														0	7230_7249	-									RNA	DEL	ENST00000558801.1	37																																																																																						0.586	DNM1P51-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000471721.1			9	31						9	31	---	---	---	---
TMEM220-AS1	101101775	broad.mit.edu	37	17	10642874	10642875	+	RNA	DEL	CA	CA	-	rs112666143	byFrequency	TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr17:10642874_10642875delCA	ENST00000583343.1	+	0	144				CTC-297N7.5_ENST00000580899.1_RNA|CTC-297N7.5_ENST00000584714.1_RNA|CTC-297N7.5_ENST00000583115.1_RNA|CTC-297N7.5_ENST00000581366.1_RNA|CTC-297N7.5_ENST00000583012.1_RNA|CTC-297N7.5_ENST00000579114.1_RNA|CTC-297N7.9_ENST00000579529.2_lincRNA																							ACTTCACGTGcacacacacaca	0.559																																						ENST00000583343.1																			0																																																			0							g.chr17:10642874_10642875delCA																													17.37:g.10642884_10642885delCA						CTC-297N7.5_ENST00000584714.1_RNA|CTC-297N7.5_ENST00000583012.1_RNA|CTC-297N7.5_ENST00000579114.1_RNA|CTC-297N7.5_ENST00000581366.1_RNA|TMEM220-AS1_ENST00000580899.1_RNA								0	144	+									RNA	DEL	ENST00000583343.1	37																																																																																						0.559	CTC-297N7.5-004	KNOWN	basic	antisense	antisense	OTTHUMT00000441072.1			2	4						2	4	---	---	---	---
MAST1	22983	broad.mit.edu	37	19	12975741	12975743	+	In_Frame_Del	DEL	CCG	CCG	-	rs146244031	byFrequency	TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr19:12975741_12975743delCCG	ENST00000251472.4	+	13	1524_1526	c.1485_1487delCCG	c.(1483-1488)caccgc>cac	p.R496del		NM_014975.2	NP_055790.1			microtubule associated serine/threonine kinase 1											NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						GCATCGTGCACCGCGACCTCAAG	0.567																																						ENST00000251472.4																			0				NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						c.(1483-1488)cac>ca		microtubule associated serine/threonine kinase 1																																				SO:0001651	inframe_deletion	22983				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:12975741_12975743delCCG	AB023190	CCDS32921.1	19p13.2	2008-02-05				ENSG00000105613			19034	protein-coding gene	gene with protein product		612256					Standard	NM_014975		Approved	SAST, KIAA0973	uc002mvm.3	Q9Y2H9		ENST00000251472.4:c.1485_1487delCCG	19.37:g.12975741_12975743delCCG	ENSP00000251472:p.Arg496del						p.HR495del	NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN			13	1524_1526	+			495			Protein kinase.			In_Frame_Del	DEL	ENST00000251472.4	37	c.1485_1487delCCG	CCDS32921.1																																																																																				0.567	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451733.2	NM_014975		66	12						66	12	---	---	---	---
HPN-AS1	100128675	broad.mit.edu	37	19	35596297	35596299	+	5'Flank	DEL	CAC	CAC	-	rs573034809	byFrequency	TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr19:35596297_35596299delCAC	ENST00000313865.6	+	0	0				HPN-AS1_ENST00000392227.2_RNA																							ccaccagcctcaccaccaccacc	0.507																																						ENST00000392227.2																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr19:35596297_35596299delCAC																													19.37:g.35596306_35596308delCAC	Exception_encountered							NR_024562.1						0	76	-									RNA	DEL	ENST00000313865.6	37																																																																																						0.507	AC020907.1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				2	4						2	4	---	---	---	---
ZNF230	7773	broad.mit.edu	37	19	44515243	44515243	+	Frame_Shift_Del	DEL	T	T	-			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr19:44515243delT	ENST00000429154.2	+	5	1280	c.1052delT	c.(1051-1053)cttfs	p.L352fs		NM_006300.3	NP_006291.2	Q9UIE0	ZN230_HUMAN	zinc finger protein 230	352					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(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22		Prostate(69;0.0352)				TCCTCATATCTTTTGATCCAT	0.428																																					GBM(175;914 2069 22996 47111 52600)	ENST00000429154.2																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22						c.(1051-1053)ctfs		zinc finger protein 230							131.0	122.0	125.0					19																	44515243		2203	4300	6503	SO:0001589	frameshift_variant	7773				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44515243delT	U95044	CCDS33044.1	19q13.31	2013-01-08				ENSG00000159882		"""Zinc fingers, C2H2-type"", ""-"""	13024	protein-coding gene	gene with protein product							Standard	NM_006300		Approved	FDZF2	uc002oyb.1	Q9UIE0		ENST00000429154.2:c.1052delT	19.37:g.44515243delT	ENSP00000409318:p.Leu352fs						p.L352fs	NM_006300.3	NP_006291.2	Q9UIE0	ZN230_HUMAN			5	1280	+		Prostate(69;0.0352)	352					O15322|Q504X7|Q86W84|Q9P1U6	Frame_Shift_Del	DEL	ENST00000429154.2	37	c.1052delT	CCDS33044.1																																																																																				0.428	ZNF230-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460456.1			82	196						82	196	---	---	---	---
CLASRP	11129	broad.mit.edu	37	19	45572472	45572472	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr19:45572472delG	ENST00000221455.3	+	18	1938	c.1840delG	c.(1840-1842)gagfs	p.E614fs	CLASRP_ENST00000544944.2_Frame_Shift_Del_p.E595fs|CLASRP_ENST00000391953.4_Frame_Shift_Del_p.E552fs	NM_007056.2	NP_008987	Q8N2M8	CLASR_HUMAN	CLK4-associating serine/arginine rich protein	614	Arg-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						GCGGGAAGACGAGCTTCGAGC	0.652																																						ENST00000544944.2																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						c.(1783-1785)agfs		CLK4-associating serine/arginine rich protein							115.0	110.0	112.0					19																	45572472		2203	4300	6503	SO:0001589	frameshift_variant	11129				mRNA processing|RNA splicing	nucleus		g.chr19:45572472delG	AF042800	CCDS12652.2, CCDS62710.1	19q13.3	2010-09-21	2010-09-21	2010-09-21	ENSG00000104859	ENSG00000104859			17731	protein-coding gene	gene with protein product	"""Clk4 associating SR-related protein"""		"""splicing factor, arginine/serine-rich 16"""	SFRS16		12169693	Standard	NM_007056		Approved	SWAP2, CLASP	uc002pak.3	Q8N2M8	OTTHUMG00000150189	ENST00000221455.3:c.1840delG	19.37:g.45572472delG	ENSP00000221455:p.Glu614fs					CLASRP_ENST00000391953.4_Frame_Shift_Del_p.E552fs|CLASRP_ENST00000221455.3_Frame_Shift_Del_p.E614fs	p.E595fs			Q8N2M8	CLASR_HUMAN			16	2475	+			614			Arg-rich.		B4DDT8|F8WAG9|O96026|Q6UW71|Q96DX2	Frame_Shift_Del	DEL	ENST00000221455.3	37	c.1783delG	CCDS12652.2																																																																																				0.652	CLASRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316749.1	NM_007056		10	392						10	392	---	---	---	---
FLJ33581	400839	broad.mit.edu	37	20	24188842	24188843	+	lincRNA	INS	-	-	TG	rs148470851|rs369848379	byFrequency	TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr20:24188842_24188843insTG	ENST00000457274.1	+	0	68					NR_040102.1																						gtgcaatcgcctgtgtgtgtgc	0.525														2044	0.408147	0.4107	0.4496	5008	,	,		25108	0.3135		0.4354	False		,,,				2504	0.4448					ENST00000457274.1																			0																																																			0							g.chr20:24188842_24188843insTG																													20.37:g.24188851_24188852dupTG								NR_040102.1						0	68	+									RNA	INS	ENST00000457274.1	37																																																																																						0.525	RP5-1100I6.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000078370.1			4	3						4	3	---	---	---	---
LINC01598	105379478	broad.mit.edu	37	20	29580865	29580866	+	RNA	DEL	AC	AC	-	rs147442218		TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr20:29580865_29580866delAC	ENST00000432067.1	-	0	288																											TTTTCCCCAAACACAGAGAAAG	0.406																																						ENST00000432067.1																			0																																																			0							g.chr20:29580865_29580866delAC																													20.37:g.29580867_29580868delAC														0	288	-									RNA	DEL	ENST00000432067.1	37																																																																																						0.406	RP4-610C12.1-002	KNOWN	basic	antisense	antisense	OTTHUMT00000078489.3			2	4						2	4	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11040447	11040447	+	RNA	DEL	A	A	-	rs145874834		TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr21:11040447delA	ENST00000470054.1	-	0	774							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)		AGGTAAGGATAAAAGAAAACT	0.343																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11040447delA	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.11040447delA												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	774	-								A8K925|Q08ER0	RNA	DEL	ENST00000470054.1	37																																																																																						0.343	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		3	4						3	4	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11059001	11059003	+	RNA	DEL	AAG	AAG	-	rs138904502		TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr21:11059001_11059003delAAG	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)		GTGAACACATAAGAAGTCAGAAG	0.384																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11059001_11059003delAAG	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.11059004_11059006delAAG												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																																																																																						0.384	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		3	5						3	5	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11064287	11064288	+	RNA	INS	-	-	A	rs55767427|rs148820757	byFrequency	TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr21:11064287_11064288insA	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)		GCTTCCACAGCAATCTTTCTAA	0.416													aa|AA|AAA|insertion	2322	0.463658	0.441	0.4611	5008	,	,		86822	0.4802		0.4911	False		,,,				2504	0.4509					ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11064287_11064288insA	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.11064289_11064289dupA												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																																																																																						0.416	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		10	6						10	6	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11072388	11072389	+	RNA	INS	-	-	T	rs139874484|rs140345115		TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr21:11072388_11072389insT	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)		tggttcacgccgtgattccagc	0.505																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11072388_11072389insT	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.11072388_11072389insT												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																																																																																						0.505	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		4	8						4	8	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11076406	11076407	+	RNA	DEL	TT	TT	-	rs60050461|rs55723577|rs61428159		TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr21:11076406_11076407delTT	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)		taatttactattttttttttct	0.287																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11076406_11076407delTT	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.11076414_11076415delTT												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																																																																																						0.287	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		4	3						4	3	---	---	---	---
FAM120C	54954	broad.mit.edu	37	X	54209302	54209303	+	In_Frame_Ins	INS	-	-	GGCGGC			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chrX:54209302_54209303insGGCGGC	ENST00000375180.2	-	1	385_386	c.329_330insGCCGCC	c.(328-330)ccc>ccGCCGCCc	p.110_110P>PPP	FAM120C_ENST00000328235.4_In_Frame_Ins_p.110_110P>PPP|FAM120C_ENST00000497680.1_5'Flank|FAM120C_ENST00000477084.1_In_Frame_Ins_p.110_110P>PPP	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	110							poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GCAGCTGAGGGGGCGGCGGCGG	0.748														77	0.0203974	0.0045	0.0159	3775	,	,		9228	0.0		0.0467	False		,,,				2504	0.0133					ENST00000375180.2																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						c.(328-330)ccc>cGCCGCCcc		family with sequence similarity 120C																																				SO:0001652	inframe_insertion	54954							g.chrX:54209302_54209303insGGCGGC	AY150025	CCDS14356.1, CCDS55421.1, CCDS75987.1	Xp11.22	2011-04-13	2006-07-04	2006-07-04	ENSG00000184083	ENSG00000184083			16949	protein-coding gene	gene with protein product		300741	"""chromosome X open reading frame 17"""	CXorf17		14585507	Standard	XM_006724589		Approved	ORF34, FLJ20506	uc004dsz.4	Q9NX05	OTTHUMG00000021625	ENST00000375180.2:c.324_329dupGCCGCC	X.37:g.54209303_54209308dupGGCGGC	ENSP00000364324:p.ProPro110dup					FAM120C_ENST00000477084.1_In_Frame_Ins_p.109_110insRR|FAM120C_ENST00000328235.4_In_Frame_Ins_p.109_110insRR	p.109_110insRR	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN			1	385_386	-			109					B2RMT7	In_Frame_Ins	INS	ENST00000375180.2	37	c.329_330insGCCGCC	CCDS14356.1																																																																																				0.748	FAM120C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056795.2	NM_017848		5	5						5	5	---	---	---	---
