#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
MX1	4599	broad.mit.edu	37	21	42821112	42821112	+	Missense_Mutation	SNP	G	G	A	rs375670151		TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr21:42821112G>A	ENST00000398600.2	+	16	2347	c.1322G>A	c.(1321-1323)cGt>cAt	p.R441H	MX1_ENST00000455164.2_Missense_Mutation_p.R441H|MX1_ENST00000398598.3_Missense_Mutation_p.R441H|MX1_ENST00000288383.6_Missense_Mutation_p.R418H	NM_001144925.1	NP_001138397.1	P20591	MX1_HUMAN	MX dynamin-like GTPase 1	441	Middle domain.|Stalk.				apoptotic process (GO:0006915)|cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|response to type I interferon (GO:0034340)|response to virus (GO:0009615)|signal transduction (GO:0007165)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				AATCAGTATCGTGGTAGAGAG	0.378																																						ENST00000398600.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27						c.(1321-1323)cGt>cAt		myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse)		G	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	74.0	84.0	80.0		1322,1322,1322	3.9	0.9	21		80	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	MX1	NM_001144925.1,NM_001178046.1,NM_002462.3	29,29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	441/663,441/663,441/663	42821112	1,13005	2203	4300	6503	SO:0001583	missense	4599				induction of apoptosis|response to virus|type I interferon-mediated signaling pathway	cytosol	GTP binding|GTPase activity|protein binding	g.chr21:42821112G>A		CCDS13673.1, CCDS74796.1	21q22.3	2014-07-15	2014-07-15		ENSG00000157601	ENSG00000157601			7532	protein-coding gene	gene with protein product	"""interferon-inducible protein p78"""	147150	"""myxovirus (influenza) resistance 1, homolog of murine (interferon-inducible protein p78)"", ""myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse)"""			17570575	Standard	XM_005260979		Approved	IFI-78K, MxA	uc010goq.3	P20591	OTTHUMG00000086755	ENST00000398600.2:c.1322G>A	21.37:g.42821112G>A	ENSP00000381601:p.Arg441His					MX1_ENST00000288383.6_Missense_Mutation_p.R418H|MX1_ENST00000455164.2_Missense_Mutation_p.R441H|MX1_ENST00000398598.3_Missense_Mutation_p.R441H	p.R441H	NM_001144925.1	NP_001138397.1	P20591	MX1_HUMAN			16	2347	+		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)	441					B2RDA5|B3KU10|C9IYV7|C9J8D6|C9JN19|C9JN88|C9JUL1|C9JZS6|D3DSI8|Q86YP5|Q96CI3	Missense_Mutation	SNP	ENST00000398600.2	37	c.1322G>A	CCDS13673.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.269560	0.80469	0.0	1.16E-4	ENSG00000157601	ENST00000398600;ENST00000398598;ENST00000455164;ENST00000288383	T;T;T;T	0.74315	-0.83;-0.83;-0.83;-0.83	4.81	3.93	0.45458	Dynamin central domain (1);	0.000000	0.85682	D	0.000000	D	0.88243	0.6384	M	0.92219	3.285	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	D	0.90294	0.4325	10	0.72032	D	0.01	-7.2294	12.301	0.54874	0.0848:0.0:0.9151:0.0	.	441	P20591	MX1_HUMAN	H	441;441;441;418	ENSP00000381601:R441H;ENSP00000381599:R441H;ENSP00000410523:R441H;ENSP00000288383:R418H	ENSP00000288383:R418H	R	+	2	0	MX1	41742982	1.000000	0.71417	0.879000	0.34478	0.687000	0.40016	5.823000	0.69272	1.334000	0.45468	0.655000	0.94253	CGT		0.378	MX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195161.2			9	57	0	0	0	1	0	9	57				
NACA	4666	broad.mit.edu	37	12	57111912	57111912	+	Silent	SNP	G	G	A	rs2926744		TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr12:57111912G>A	ENST00000454682.1	-	3	3683	c.3402C>T	c.(3400-3402)ccC>ccT	p.P1134P	NACA_ENST00000546392.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000552540.1_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	1134	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						CTTTTGGGGAGGGAGGAGTTG	0.642			T	BCL6	NHL																																	ENST00000454682.1				Dom	yes		12	12q23-q24.1	4666	T	nascent-polypeptide-associated complex alpha polypeptide			L	BCL6		NHL		0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(3400-3402)ccC>ccT		nascent polypeptide-associated complex alpha subunit							61.0	59.0	60.0					12																	57111912		1261	2772	4033	SO:0001819	synonymous_variant	4666				interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding	g.chr12:57111912G>A	X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"""nascent-polypeptide-associated complex alpha polypeptide"""			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.3402C>T	12.37:g.57111912G>A						NACA_ENST00000393891.4_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000548563.1_Intron	p.P1134P	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN			3	3683	-			0						Silent	SNP	ENST00000454682.1	37	c.3402C>T																																																																																					0.642	NACA-201	KNOWN	basic	protein_coding	protein_coding		NM_005594		3	69	0	0	0	1	0	3	69				
DNM1P34	729809	broad.mit.edu	37	15	75594836	75594836	+	RNA	SNP	A	A	G			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr15:75594836A>G	ENST00000567292.1	-	0	470							Q6PK57	DMP34_HUMAN	DNM1 pseudogene 34							microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)										GAGGTGCATGATGGTCTTGGG	0.592																																						ENST00000567292.1																			0																																																			0							g.chr15:75594836A>G	AJ576251		15q24.2	2013-04-25			ENSG00000260357	ENSG00000260357			35181	pseudogene	pseudogene				DNM1DN8@			Standard	NG_009143		Approved	DNM1DN8-1, DNM1DN8-5	uc002azx.1	Q6PK57	OTTHUMG00000172673		15.37:g.75594836A>G														0	470	-									RNA	SNP	ENST00000567292.1	37																																																																																						0.592	DNM1P34-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000419799.1	NG_009143		3	49	0	0	0	1	0	3	49				
ATAD2B	54454	broad.mit.edu	37	2	24011409	24011409	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr2:24011409T>C	ENST00000238789.5	-	20	3092	c.2749A>G	c.(2749-2751)Atg>Gtg	p.M917V	ATAD2B_ENST00000474583.1_5'UTR	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	917						nucleus (GO:0005634)	ATP binding (GO:0005524)|lysine-acetylated histone binding (GO:0070577)			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGTGGAGCCATTGATGCCTGA	0.363																																						ENST00000238789.5																			0				central_nervous_system(1)	1						c.(2749-2751)Atg>Gtg		ATPase family, AAA domain containing 2B							157.0	145.0	149.0					2																	24011409		1849	4082	5931	SO:0001583	missense	54454						ATP binding|nucleoside-triphosphatase activity	g.chr2:24011409T>C	AB033066	CCDS46227.1	2p24.1-p23.3	2010-04-21		2007-02-08	ENSG00000119778	ENSG00000119778		"""ATPases / AAA-type"""	29230	protein-coding gene	gene with protein product		615347					Standard	XM_005264372		Approved	KIAA1240	uc002rek.4	Q9ULI0	OTTHUMG00000151902	ENST00000238789.5:c.2749A>G	2.37:g.24011409T>C	ENSP00000238789:p.Met917Val					ATAD2B_ENST00000474583.1_5'UTR	p.M917V	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN			20	3092	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		917					B9ZVQ5|Q6ZNA6|Q8N9E7	Missense_Mutation	SNP	ENST00000238789.5	37	c.2749A>G	CCDS46227.1	.	.	.	.	.	.	.	.	.	.	T	13.29	2.192501	0.38707	.	.	ENSG00000119778	ENST00000238789;ENST00000546030	D	0.91237	-2.81	5.55	4.39	0.52855	.	0.564534	0.17912	N	0.157810	T	0.80385	0.4613	N	0.14661	0.345	0.32516	N	0.536843	B;B	0.18610	0.017;0.029	B;B	0.20577	0.013;0.03	T	0.75551	-0.3278	10	0.27785	T	0.31	.	6.8377	0.23945	0.1338:0.071:0.0:0.7952	.	917;917	Q9ULI0;Q9ULI0-2	ATD2B_HUMAN;.	V	917;85	ENSP00000238789:M917V	ENSP00000238789:M917V	M	-	1	0	ATAD2B	23864913	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.584000	0.46102	1.053000	0.40415	0.533000	0.62120	ATG		0.363	ATAD2B-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324333.1	NM_017552		12	48	0	0	0	1	0	12	48				
TENM2	57451	broad.mit.edu	37	5	167673770	167673770	+	Silent	SNP	C	C	A			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr5:167673770C>A	ENST00000518659.1	+	27	5865	c.5826C>A	c.(5824-5826)gtC>gtA	p.V1942V	TENM2_ENST00000545108.1_Silent_p.V1941V|TENM2_ENST00000519204.1_Silent_p.V1821V|TENM2_ENST00000520394.1_Silent_p.V1703V|TENM2_ENST00000403607.2_Silent_p.V1766V	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	1942					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										AGTCCATGGTCCTCCTGCTTC	0.502																																						ENST00000519204.1																			0											c.(5461-5463)gtC>gtA		teneurin transmembrane protein 2							274.0	280.0	278.0					5																	167673770		2056	4198	6254	SO:0001819	synonymous_variant	57451							g.chr5:167673770C>A	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.5826C>A	5.37:g.167673770C>A						TENM2_ENST00000520394.1_Silent_p.V1703V|TENM2_ENST00000545108.1_Silent_p.V1941V|TENM2_ENST00000403607.2_Silent_p.V1766V|TENM2_ENST00000518659.1_Silent_p.V1942V	p.V1821V							26	5581	+								Q9ULU2	Silent	SNP	ENST00000518659.1	37	c.5463C>A																																																																																					0.502	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		95	334	1	0	2.85792e-54	1	2.91872e-54	95	334				
CEP85L	387119	broad.mit.edu	37	6	118790379	118790379	+	Missense_Mutation	SNP	G	G	A	rs201806484		TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr6:118790379G>A	ENST00000368491.3	-	12	2731	c.2110C>T	c.(2110-2112)Cgg>Tgg	p.R704W	CEP85L_ENST00000368488.5_Missense_Mutation_p.R707W	NM_001042475.2	NP_001035940.1	Q5SZL2	CE85L_HUMAN	centrosomal protein 85kDa-like	704						centrosome (GO:0005813)|cytoplasm (GO:0005737)											AATAGTGGCCGTTTGGAAAGA	0.418																																						ENST00000368491.3																			0											c.(2110-2112)Cgg>Tgg		centrosomal protein 85kDa-like		G	TRP/ARG,TRP/ARG	1,3813		0,1,1906	170.0	160.0	163.0		2110,2119	-9.9	0.0	6		163	1,8269		0,1,4134	no	missense,missense	C6orf204	NM_001042475.2,NM_001178035.1	101,101	0,2,6040	AA,AG,GG		0.0121,0.0262,0.0166	benign,benign	704/806,707/809	118790379	2,12082	1907	4135	6042	SO:0001583	missense	387119					centrosome		g.chr6:118790379G>A	AF308284	CCDS5119.2, CCDS43498.1, CCDS55052.1	6q22.31	2011-11-25	2011-11-25	2011-11-25	ENSG00000111860	ENSG00000111860			21638	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 204"""	C6orf204			Standard	NM_206921		Approved	NY-BR-15, bA57K17.2	uc003pya.2	Q5SZL2	OTTHUMG00000015465	ENST00000368491.3:c.2110C>T	6.37:g.118790379G>A	ENSP00000357477:p.Arg704Trp					CEP85L_ENST00000368488.5_Missense_Mutation_p.R707W	p.R704W	NM_001042475.2	NP_001035940.1	Q5SZL2	CF204_HUMAN			12	2731	-			704					A1A4E1|A2A3P2|A2IDE5|F8W6J2|G3V0H3|Q2TAM2|Q5T323|Q7Z5K7|Q9H289	Missense_Mutation	SNP	ENST00000368491.3	37	c.2110C>T	CCDS43498.1	.	.	.	.	.	.	.	.	.	.	G	14.58	2.576949	0.45902	2.62E-4	1.21E-4	ENSG00000111860	ENST00000368491;ENST00000368488	T;T	0.12039	2.72;2.72	5.38	-9.87	0.00470	.	1.247650	0.05663	N	0.587286	T	0.01254	0.0041	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.39860	-0.9593	10	0.56958	D	0.05	0.5445	1.5486	0.02570	0.3513:0.0813:0.1963:0.3711	.	704	Q5SZL2	CF204_HUMAN	W	704;707	ENSP00000357477:R704W;ENSP00000357474:R707W	ENSP00000357474:R707W	R	-	1	2	C6orf204	118897072	0.000000	0.05858	0.010000	0.14722	0.564000	0.35744	-1.329000	0.02677	-2.242000	0.00708	-0.122000	0.15005	CGG		0.418	CEP85L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041996.2	NM_001042475		12	170	0	0	0	1	0	12	170				
TM6SF2	53345	broad.mit.edu	37	19	19379456	19379456	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr19:19379456G>A	ENST00000389363.4	-	6	664	c.592C>T	c.(592-594)Cgc>Tgc	p.R198C	TM6SF2_ENST00000586107.1_5'Flank|AC138430.4_ENST00000586064.2_RNA	NM_001001524.2	NP_001001524.2	Q9BZW4	TM6S2_HUMAN	transmembrane 6 superfamily member 2	198						integral component of membrane (GO:0016021)				breast(2)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14			Epithelial(12;0.0151)			GCGGTGCAGCGGGTTAGCGCC	0.577																																						ENST00000389363.4																			0				breast(2)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14						c.(592-594)Cgc>Tgc		transmembrane 6 superfamily member 2							61.0	65.0	64.0					19																	19379456		1978	4162	6140	SO:0001583	missense	53345					integral to membrane		g.chr19:19379456G>A	AF255923	CCDS42528.1	19p13.3-p12	2008-02-05							11861	protein-coding gene	gene with protein product		606563				11124529	Standard	NM_001001524		Approved	Lpr4	uc002nmd.1	Q9BZW4		ENST00000389363.4:c.592C>T	19.37:g.19379456G>A	ENSP00000374014:p.Arg198Cys					AC138430.4_ENST00000586064.2_RNA	p.R198C	NM_001001524.2	NP_001001524.2	Q9BZW4	TM6S2_HUMAN	Epithelial(12;0.0151)		6	664	-			198					Q0IJ64	Missense_Mutation	SNP	ENST00000389363.4	37	c.592C>T	CCDS42528.1	.	.	.	.	.	.	.	.	.	.	G	8.911	0.958771	0.18507	.	.	ENSG00000213996	ENST00000389363;ENST00000269990	T	0.29397	1.57	4.86	-3.65	0.04502	.	0.955595	0.08598	N	0.921948	T	0.05868	0.0153	N	0.00237	-1.79	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.26950	-1.0088	10	0.49607	T	0.09	-0.7129	0.9955	0.01465	0.4173:0.1096:0.1501:0.323	.	198	Q9BZW4	TM6S2_HUMAN	C	198	ENSP00000374014:R198C	ENSP00000269990:R198C	R	-	1	0	TM6SF2	19240456	0.002000	0.14202	0.010000	0.14722	0.158000	0.22134	-0.199000	0.09491	-0.381000	0.07882	-0.373000	0.07131	CGC		0.577	TM6SF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460122.2	NM_203510		4	53	0	0	0	1	0	4	53				
MIR325	442899	broad.mit.edu	37	X	76225829	76225829	+	RNA	SNP	C	C	T			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chrX:76225829C>T	ENST00000385260.1	-	0	97					NR_029905.1				microRNA 325																		ctatgtagtcccagagcctag	0.398																																						ENST00000385260.1																			0																				122.0	105.0	110.0					X																	76225829		1568	3582	5150			0							g.chrX:76225829C>T			Xq21.1	2011-09-12		2008-12-18	ENSG00000207995	ENSG00000207995		"""ncRNAs / Micro RNAs"""	31768	non-coding RNA	RNA, micro				MIRN325			Standard	NR_029905		Approved	hsa-mir-325					X.37:g.76225829C>T								NR_029905.1						0	97	-									RNA	SNP	ENST00000385260.1	37																																																																																						0.398	MIR325-201	KNOWN	basic	miRNA	miRNA		NR_029905		18	7	0	0	0	1	0	18	7				
TFIP11	24144	broad.mit.edu	37	22	26899663	26899663	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr22:26899663G>A	ENST00000407690.1	-	7	900	c.617C>T	c.(616-618)cCt>cTt	p.P206L	TFIP11_ENST00000496523.1_5'UTR|TFIP11_ENST00000407148.1_Missense_Mutation_p.P206L|TFIP11_ENST00000405938.1_Missense_Mutation_p.P206L|TFIP11_ENST00000407431.1_Missense_Mutation_p.P206L	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	206					biomineral tissue development (GO:0031214)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|spliceosomal complex disassembly (GO:0000390)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|proteinaceous extracellular matrix (GO:0005578)|spliceosomal complex (GO:0005681)|U2-type post-mRNA release spliceosomal complex (GO:0071008)	DNA binding (GO:0003677)			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						GTCAACCACAGGGAAGTCTTG	0.493																																						ENST00000407690.1																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						c.(616-618)cCt>cTt		tuftelin interacting protein 11							158.0	127.0	137.0					22																	26899663		2203	4300	6503	SO:0001583	missense	24144				biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:26899663G>A	AL050258	CCDS13838.1	22q12.1	2013-01-28			ENSG00000100109	ENSG00000100109		"""G patch domain containing"""	17165	protein-coding gene	gene with protein product		612747				10806191, 11230166	Standard	NM_012143		Approved	TIP39, DKFZP434B194, Spp382	uc003acs.2	Q9UBB9	OTTHUMG00000150883	ENST00000407690.1:c.617C>T	22.37:g.26899663G>A	ENSP00000384421:p.Pro206Leu					TFIP11_ENST00000405938.1_Missense_Mutation_p.P206L|TFIP11_ENST00000407431.1_Missense_Mutation_p.P206L|TFIP11_ENST00000407148.1_Missense_Mutation_p.P206L|TFIP11_ENST00000496523.1_5'UTR	p.P206L	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN			7	900	-			206					O95908|Q20WL0|Q5H8V8|Q9UGV7|Q9Y2Q8	Missense_Mutation	SNP	ENST00000407690.1	37	c.617C>T	CCDS13838.1	.	.	.	.	.	.	.	.	.	.	G	33	5.243777	0.95272	.	.	ENSG00000100109	ENST00000407690;ENST00000407431;ENST00000407148;ENST00000405938	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.63070	0.2480	M	0.65975	2.015	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.55860	-0.8074	10	0.27082	T	0.32	-22.3964	18.333	0.90277	0.0:0.0:1.0:0.0	.	206	Q9UBB9	TFP11_HUMAN	L	206	ENSP00000384421:P206L;ENSP00000383892:P206L;ENSP00000385861:P206L;ENSP00000384297:P206L	ENSP00000384297:P206L	P	-	2	0	TFIP11	25229663	1.000000	0.71417	0.999000	0.59377	0.964000	0.63967	9.258000	0.95555	2.804000	0.96469	0.655000	0.94253	CCT		0.493	TFIP11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320750.1	NM_001008697		28	61	0	0	0	1	0	28	61				
KRT31	3881	broad.mit.edu	37	17	39550306	39550306	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr17:39550306G>A	ENST00000251645.2	-	7	1265	c.1213C>T	c.(1213-1215)Cgc>Tgc	p.R405C		NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN	keratin 31	405	Tail.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				CAGCGGGGGCGTGGGGCACAG	0.642																																						ENST00000251645.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31						c.(1213-1215)Cgc>Tgc		keratin 31							71.0	62.0	65.0					17																	39550306		2203	4300	6503	SO:0001583	missense	3881				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39550306G>A	X86570	CCDS11391.1	17q21.2	2014-05-20	2006-07-17	2006-07-17	ENSG00000094796	ENSG00000094796		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6448	protein-coding gene	gene with protein product	"""hard keratin type I 1"""	601077	"""keratin, hair, acidic, 1"""	KRTHA1		7578244, 16831889	Standard	NM_002277		Approved	Ha-1	uc002hwn.3	Q15323	OTTHUMG00000133423	ENST00000251645.2:c.1213C>T	17.37:g.39550306G>A	ENSP00000251645:p.Arg405Cys						p.R405C	NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN			7	1265	-		Breast(137;0.000496)	405			Tail.		Q9UE12	Missense_Mutation	SNP	ENST00000251645.2	37	c.1213C>T	CCDS11391.1	.	.	.	.	.	.	.	.	.	.	g	21.4	4.142529	0.77888	.	.	ENSG00000094796	ENST00000251645	D	0.82081	-1.57	5.52	5.52	0.82312	.	0.111520	0.40554	N	0.001061	D	0.88175	0.6366	L	0.52364	1.645	0.50467	D	0.999877	D	0.89917	1.0	D	0.77557	0.99	D	0.87449	0.2400	10	0.45353	T	0.12	.	14.9451	0.71023	0.0:0.0:1.0:0.0	.	405	Q15323	K1H1_HUMAN	C	405	ENSP00000251645:R405C	ENSP00000251645:R405C	R	-	1	0	KRT31	36803832	0.961000	0.32948	0.965000	0.40720	0.954000	0.61252	2.347000	0.44036	2.612000	0.88384	0.655000	0.94253	CGC		0.642	KRT31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257286.1	NM_002277		6	67	0	0	0	1	0	6	67				
KDELR3	11015	broad.mit.edu	37	22	38877382	38877382	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr22:38877382G>A	ENST00000216014.4	+	4	689	c.517G>A	c.(517-519)Gag>Aag	p.E173K	KDELR3_ENST00000471268.1_3'UTR|KDELR3_ENST00000409006.3_Missense_Mutation_p.E173K	NM_006855.2	NP_006846.1	O43731	ERD23_HUMAN	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 3	173					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|protein retention in ER lumen (GO:0006621)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ER retention sequence binding (GO:0046923)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)	13	Melanoma(58;0.0286)					GTACCAGACTGAGAATTTCTA	0.478																																					Ovarian(11;103 529 24120 28493 32980)	ENST00000216014.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)	13						c.(517-519)Gag>Aag		KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 3							160.0	142.0	148.0					22																	38877382		2203	4300	6503	SO:0001583	missense	0				protein retention in ER lumen|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane	ER retention sequence binding|receptor activity	g.chr22:38877382G>A	AL035081	CCDS13972.1, CCDS46705.1	22q13	2008-05-02			ENSG00000100196	ENSG00000100196			6306	protein-coding gene	gene with protein product							Standard	NM_006855		Approved		uc003avu.3	O43731	OTTHUMG00000153520	ENST00000216014.4:c.517G>A	22.37:g.38877382G>A	ENSP00000216014:p.Glu173Lys					KDELR3_ENST00000471268.1_3'UTR|KDELR3_ENST00000409006.3_Missense_Mutation_p.E173K	p.E173K	NM_006855.2	NP_006846.1	O43731	ERD23_HUMAN			4	689	+	Melanoma(58;0.0286)		173					A8K7T7|B8ZZ26|O95557|Q4V750|Q4V767|Q53FP4|Q53GK1	Missense_Mutation	SNP	ENST00000216014.4	37	c.517G>A	CCDS13972.1	.	.	.	.	.	.	.	.	.	.	G	34	5.307001	0.95629	.	.	ENSG00000100196	ENST00000216014;ENST00000409006	T;T	0.80033	-1.33;-1.33	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	D	0.90587	0.7049	H	0.96916	3.905	0.80722	D	1	P;P	0.44776	0.843;0.779	P;P	0.48873	0.558;0.593	D	0.93088	0.6497	10	0.54805	T	0.06	-11.1028	18.4255	0.90607	0.0:0.0:1.0:0.0	.	173;173	O43731;O43731-2	ERD23_HUMAN;.	K	173	ENSP00000216014:E173K;ENSP00000386918:E173K	ENSP00000216014:E173K	E	+	1	0	KDELR3	37207328	1.000000	0.71417	0.982000	0.44146	0.997000	0.91878	9.657000	0.98554	2.595000	0.87683	0.650000	0.86243	GAG		0.478	KDELR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331474.1			3	106	0	0	0	1	0	3	106				
MFSD5	84975	broad.mit.edu	37	12	53647321	53647321	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr12:53647321G>C	ENST00000329548.4	+	2	893	c.702G>C	c.(700-702)agG>agC	p.R234S	MFSD5_ENST00000534842.1_Missense_Mutation_p.R341S	NM_032889.4	NP_116278.3	Q6N075	MFSD5_HUMAN	major facilitator superfamily domain containing 5	234					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(3)|urinary_tract(1)	16						CCTTCTCAAGGACCTGTGCTG	0.602																																						ENST00000534842.1																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(3)|urinary_tract(1)	16						c.(1021-1023)agG>agC		major facilitator superfamily domain containing 5							83.0	83.0	83.0					12																	53647321		2203	4300	6503	SO:0001583	missense	84975				transport	integral to membrane		g.chr12:53647321G>C	AK097576	CCDS8851.1, CCDS53796.1	12q13.13	2012-03-09			ENSG00000182544	ENSG00000182544			28156	protein-coding gene	gene with protein product							Standard	NM_032889		Approved	MGC11308	uc001sch.2	Q6N075	OTTHUMG00000170028	ENST00000329548.4:c.702G>C	12.37:g.53647321G>C	ENSP00000332624:p.Arg234Ser					MFSD5_ENST00000329548.4_Missense_Mutation_p.R234S	p.R341S	NM_001170790.1	NP_001164261.1	Q6N075	MFSD5_HUMAN			2	1170	+			234					G3V1N7|Q6NW04|Q8N7W8|Q8NCK0|Q96IA5	Missense_Mutation	SNP	ENST00000329548.4	37	c.1023G>C	CCDS8851.1	.	.	.	.	.	.	.	.	.	.	G	10.27	1.304476	0.23736	.	.	ENSG00000182544	ENST00000551660;ENST00000534842;ENST00000328704;ENST00000329548	T;T	0.80393	-1.37;-1.37	4.77	3.81	0.43845	Major facilitator superfamily domain, general substrate transporter (1);	0.115711	0.56097	D	0.000034	T	0.64649	0.2617	L	0.39397	1.21	0.39310	D	0.965056	B;P	0.38370	0.285;0.628	B;B	0.30316	0.096;0.114	T	0.62364	-0.6870	10	0.19147	T	0.46	-3.05	7.2521	0.26156	0.0934:0.1742:0.7324:0.0	.	234;341	Q6N075;G3V1N7	MFSD5_HUMAN;.	S	341;341;341;234	ENSP00000442688:R341S;ENSP00000332624:R234S	ENSP00000331231:R341S	R	+	3	2	MFSD5	51933588	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.283000	0.33237	2.196000	0.70406	0.561000	0.74099	AGG		0.602	MFSD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406896.1	NM_032889		12	74	0	0	0	1	0	12	74				
OR3A1	4994	broad.mit.edu	37	17	3195699	3195699	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr17:3195699T>C	ENST00000323404.1	-	1	177	c.178A>G	c.(178-180)Acc>Gcc	p.T60A	RP11-64J4.2_ENST00000573491.1_RNA	NM_002550.2	NP_002541.2	P47881	OR3A1_HUMAN	olfactory receptor, family 3, subfamily A, member 1	60					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|signal transduction (GO:0007165)	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(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	20						TACATGGGGGTGTGGAGTTTG	0.562																																					GBM(20;287 516 18743 28660 36594)	ENST00000323404.1																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	20						c.(178-180)Acc>Gcc		olfactory receptor, family 3, subfamily A, member 1							88.0	77.0	81.0					17																	3195699		2203	4300	6503	SO:0001583	missense	4994				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:3195699T>C	X80391	CCDS11023.1	17p13.3	2012-08-09			ENSG00000180090	ENSG00000180090		"""GPCR / Class A : Olfactory receptors"""	8282	protein-coding gene	gene with protein product						8921386, 8647456	Standard	NM_002550		Approved	OLFRA03, OR40, OR17-40	uc002fvh.1	P47881	OTTHUMG00000090642	ENST00000323404.1:c.178A>G	17.37:g.3195699T>C	ENSP00000313803:p.Thr60Ala					RP11-64J4.2_ENST00000573491.1_RNA	p.T60A	NM_002550.2	NP_002541.2	P47881	OR3A1_HUMAN			1	177	-			60					Q4VB06|Q6IFM4	Missense_Mutation	SNP	ENST00000323404.1	37	c.178A>G	CCDS11023.1	.	.	.	.	.	.	.	.	.	.	T	14.43	2.534181	0.45073	.	.	ENSG00000180090	ENST00000323404	T	0.00472	7.19	5.83	3.57	0.40892	GPCR, rhodopsin-like superfamily (1);	0.126956	0.35936	N	0.002894	T	0.00608	0.0020	M	0.82193	2.58	0.21220	N	0.999753	B	0.17852	0.024	B	0.21151	0.033	T	0.43718	-0.9374	10	0.62326	D	0.03	-32.5981	7.1325	0.25510	0.1308:0.072:0.0:0.7971	.	60	P47881	OR3A1_HUMAN	A	60	ENSP00000313803:T60A	ENSP00000313803:T60A	T	-	1	0	OR3A1	3142449	0.999000	0.42202	1.000000	0.80357	0.932000	0.56968	1.488000	0.35551	0.431000	0.26258	0.528000	0.53228	ACC		0.562	OR3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207302.2			3	42	0	0	0	1	0	3	42				
IFNA4	3441	broad.mit.edu	37	9	21186979	21186979	+	Silent	SNP	T	T	C			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr9:21186979T>C	ENST00000421715.1	-	1	619	c.552A>G	c.(550-552)agA>agG	p.R184R		NM_021068.2	NP_066546.1	P05014	IFNA4_HUMAN	interferon, alpha 4	184					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17				GBM - Glioblastoma multiforme(5;2.69e-202)|Lung(24;2.26e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		TCCTCCTTAATCTTTTTTGCA	0.388																																					NSCLC(154;890 1986 23660 27800 51138)	ENST00000421715.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						c.(550-552)agA>agG		interferon, alpha 4							168.0	170.0	169.0					9																	21186979		2203	4300	6503	SO:0001819	synonymous_variant	3441				blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding	g.chr9:21186979T>C		CCDS6498.1	9p22	2010-08-24			ENSG00000236637	ENSG00000236637		"""Interferons"""	5425	protein-coding gene	gene with protein product		147564				1385305	Standard	NM_021068		Approved	MGC142200, IFN-alpha4a	uc003zon.2	P05014	OTTHUMG00000019660	ENST00000421715.1:c.552A>G	9.37:g.21186979T>C							p.R184R	NM_021068.2	NP_066546.1	P05014	IFNA4_HUMAN		GBM - Glioblastoma multiforme(5;2.69e-202)|Lung(24;2.26e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)	1	619	-			184					P13358|Q14CS4|Q5VV15	Silent	SNP	ENST00000421715.1	37	c.552A>G	CCDS6498.1																																																																																				0.388	IFNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051889.1	NM_021068		7	197	0	0	0	1	0	7	197				
RPL10A	4736	broad.mit.edu	37	6	35438057	35438057	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr6:35438057C>T	ENST00000322203.6	+	5	439	c.412C>T	c.(412-414)Ctc>Ttc	p.L138F	RPL10A_ENST00000467020.1_3'UTR	NM_007104.4	NP_009035.3	P62906	RL10A_HUMAN	ribosomal protein L10a	138					anatomical structure morphogenesis (GO:0009653)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|large_intestine(2)|ovary(1)	4						CCCTTCCCTGCTCACACACAA	0.488																																						ENST00000322203.6																			0				breast(1)|large_intestine(2)|ovary(1)	4						c.(412-414)Ctc>Ttc		ribosomal protein L10a							54.0	48.0	50.0					6																	35438057		2203	4300	6503	SO:0001583	missense	4736				anatomical structure morphogenesis|endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	RNA binding|structural constituent of ribosome	g.chr6:35438057C>T	U12404	CCDS4806.1	6p21.31	2011-04-06			ENSG00000198755	ENSG00000198755		"""L ribosomal proteins"""	10299	protein-coding gene	gene with protein product		615660		NEDD6		7609734, 9647638	Standard	NM_007104		Approved	Csa-19, L10A	uc003okp.1	P62906	OTTHUMG00000014566	ENST00000322203.6:c.412C>T	6.37:g.35438057C>T	ENSP00000363018:p.Leu138Phe					RPL10A_ENST00000467020.1_3'UTR	p.L138F	NM_007104.4	NP_009035.3	P62906	RL10A_HUMAN			5	439	+			138					B2R801|P52859|P53025|Q5TZT6|Q8J013	Missense_Mutation	SNP	ENST00000322203.6	37	c.412C>T	CCDS4806.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.646260	0.87958	.	.	ENSG00000198755	ENST00000322203	T	0.43688	0.94	4.73	3.86	0.44501	Ribosomal protein L1, 3-layer alpha/beta-sandwich (1);Ribosomal protein L1, superfamily (1);	0.000000	0.85682	D	0.000000	T	0.57066	0.2028	M	0.86651	2.83	0.80722	D	1	D	0.56521	0.976	D	0.67548	0.952	T	0.66073	-0.6014	10	0.87932	D	0	.	11.6968	0.51548	0.0:0.9125:0.0:0.0875	.	138	P62906	RL10A_HUMAN	F	138	ENSP00000363018:L138F	ENSP00000363018:L138F	L	+	1	0	RPL10A	35546035	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	3.916000	0.56416	0.999000	0.39023	0.556000	0.70494	CTC		0.488	RPL10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040283.1	NM_007104		7	28	0	0	0	1	0	7	28				
TTN	7273	broad.mit.edu	37	2	179435785	179435785	+	Missense_Mutation	SNP	A	A	C	rs3731743		TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr2:179435785A>C	ENST00000591111.1	-	276	70375	c.70151T>G	c.(70150-70152)cTt>cGt	p.L23384R	TTN_ENST00000589042.1_Missense_Mutation_p.L25025R|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L16152R|TTN_ENST00000342992.6_Missense_Mutation_p.L22457R|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L16085R|TTN_ENST00000460472.2_Missense_Mutation_p.L15960R|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin	23384	Fibronectin type-III 70. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTCCACTGAAGAGTCACAGA	0.468																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(75073-75075)cTt>cGt		titin							141.0	144.0	143.0					2																	179435785		1947	4137	6084	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179435785A>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.70151T>G	2.37:g.179435785A>C	ENSP00000465570:p.Leu23384Arg					TTN_ENST00000342992.6_Missense_Mutation_p.L22457R|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L16152R|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L16085R|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.L15960R|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.L23384R	p.L25025R	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		326	75298	-			23384			Ig-like 123.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.75074T>G		.	.	.	.	.	.	.	.	.	.	A	13.03	2.114588	0.37339	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.60040	0.22;0.22;0.22;0.22	5.28	5.28	0.74379	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.85775	0.5775	H	0.98980	4.39	0.58432	D	0.999993	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.91671	0.5350	9	0.87932	D	0	.	15.5037	0.75722	1.0:0.0:0.0:0.0	.	15960;16085;16152;23384	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	R	22457;15960;16152;16085;15958	ENSP00000343764:L22457R;ENSP00000434586:L15960R;ENSP00000340554:L16152R;ENSP00000352154:L16085R	ENSP00000340554:L16152R	L	-	2	0	TTN	179144031	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.287000	0.95975	2.125000	0.65367	0.528000	0.53228	CTT		0.468	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		3	170	0	0	0	1	0	3	170				
PIKFYVE	200576	broad.mit.edu	37	2	209142388	209142388	+	Missense_Mutation	SNP	G	G	C	rs112183241		TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr2:209142388G>C	ENST00000264380.4	+	5	727	c.569G>C	c.(568-570)cGt>cCt	p.R190P	PIKFYVE_ENST00000308862.6_Intron|PIKFYVE_ENST00000407449.1_Missense_Mutation_p.R190P|PIKFYVE_ENST00000392202.3_Intron	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	190					cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						TTCTGCAGTCGTTGCTGTAAT	0.383																																						ENST00000264380.4																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						c.(568-570)cGt>cCt		phosphoinositide kinase, FYVE finger containing							141.0	146.0	144.0					2																	209142388		2203	4300	6503	SO:0001583	missense	200576				cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding	g.chr2:209142388G>C	AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"""Zinc fingers, FYVE domain containing"""	23785	protein-coding gene	gene with protein product	"""zinc finger, FYVE domain containing 29"""	609414	"""phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"""	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.569G>C	2.37:g.209142388G>C	ENSP00000264380:p.Arg190Pro					PIKFYVE_ENST00000308862.6_Intron|PIKFYVE_ENST00000407449.1_Missense_Mutation_p.R190P|PIKFYVE_ENST00000392202.3_Intron	p.R190P	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN			5	727	+			190					Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Missense_Mutation	SNP	ENST00000264380.4	37	c.569G>C	CCDS2382.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.691857	0.88735	.	.	ENSG00000115020	ENST00000264380;ENST00000407449;ENST00000422495;ENST00000452564	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	5.78	4.91	0.64330	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE-type (2);Zinc finger, FYVE-related (1);Zinc finger, FYVE/PHD-type (1);	0.068535	0.56097	D	0.000027	T	0.57917	0.2086	L	0.48174	1.505	0.80722	D	1	D;D;P	0.89917	1.0;1.0;0.665	D;D;P	0.83275	0.996;0.973;0.592	T	0.60495	-0.7252	10	0.62326	D	0.03	-9.8081	14.7893	0.69827	0.0691:0.0:0.9309:0.0	.	190;190;190	Q9Y2I7;E9PDH4;Q08AR7	FYV1_HUMAN;.;.	P	190;190;202;190	ENSP00000264380:R190P;ENSP00000384356:R190P;ENSP00000414477:R202P;ENSP00000405736:R190P	ENSP00000264380:R190P	R	+	2	0	PIKFYVE	208850633	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.799000	0.99117	1.450000	0.47717	0.561000	0.74099	CGT		0.383	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2	NM_015040		4	129	0	0	0	1	0	4	129				
EYA4	2070	broad.mit.edu	37	6	133844247	133844247	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr6:133844247C>T	ENST00000367895.5	+	18	2134	c.1670C>T	c.(1669-1671)gCg>gTg	p.A557V	EYA4_ENST00000452339.2_Missense_Mutation_p.A503V|EYA4_ENST00000525849.1_Missense_Mutation_p.A534V|EYA4_ENST00000355286.6_Missense_Mutation_p.A534V|RP3-323P13.2_ENST00000607033.1_RNA|EYA4_ENST00000531901.1_Missense_Mutation_p.A563V|EYA4_ENST00000431403.2_Missense_Mutation_p.A557V|EYA4_ENST00000355167.3_Missense_Mutation_p.A557V|EYA4_ENST00000430974.2_Missense_Mutation_p.A509V	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	EYA transcriptional coactivator and phosphatase 4	557					anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA repair (GO:0006281)|inner ear development (GO:0048839)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		CCAGCACTTGCGAAGGTTCTA	0.338																																					Melanoma(57;398 1237 3528 4702 7415)	ENST00000367895.5																			0				breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48						c.(1669-1671)gCg>gTg		eyes absent homolog 4 (Drosophila)							121.0	117.0	119.0					6																	133844247		2203	4300	6503	SO:0001583	missense	2070				anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	g.chr6:133844247C>T	Y17114	CCDS5165.1, CCDS5166.1, CCDS43506.1, CCDS75521.1, CCDS75523.1	6q23	2014-09-17	2014-06-19		ENSG00000112319	ENSG00000112319		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3522	protein-coding gene	gene with protein product		603550	"""eyes absent (Drosophila) homolog 4"", ""eyes absent homolog 4 (Drosophila)"""	DFNA10, CMD1J		9887327, 11159937	Standard	NM_004100		Approved		uc003qed.4	O95677	OTTHUMG00000015602	ENST00000367895.5:c.1670C>T	6.37:g.133844247C>T	ENSP00000356870:p.Ala557Val					RP3-323P13.2_ENST00000607033.1_RNA|EYA4_ENST00000431403.2_Missense_Mutation_p.A557V|EYA4_ENST00000430974.2_Missense_Mutation_p.A509V|EYA4_ENST00000531901.1_Missense_Mutation_p.A563V|EYA4_ENST00000355167.3_Missense_Mutation_p.A557V|EYA4_ENST00000355286.6_Missense_Mutation_p.A534V|EYA4_ENST00000525849.1_Missense_Mutation_p.A534V|EYA4_ENST00000452339.2_Missense_Mutation_p.A503V	p.A557V	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN		GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)	18	2134	+	Colorectal(23;0.221)		557					B7Z7F7|O95464|O95679|Q8IW39|Q9NTR7	Missense_Mutation	SNP	ENST00000367895.5	37	c.1670C>T	CCDS5165.1	.	.	.	.	.	.	.	.	.	.	C	34	5.397392	0.96009	.	.	ENSG00000112319	ENST00000452339;ENST00000430974;ENST00000367895;ENST00000355167;ENST00000355286;ENST00000531901;ENST00000525849;ENST00000431403	T;T;T;T;T;T;T;T	0.81415	-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49	5.86	5.86	0.93980	EYA (1);Haloacid dehalogenase-like hydrolase (1);	0.046101	0.85682	D	0.000000	T	0.80737	0.4680	L	0.48935	1.535	0.80722	D	1	P;P;D;D;D;P	0.76494	0.918;0.954;0.999;0.998;0.969;0.863	B;B;P;P;B;B	0.52881	0.227;0.302;0.712;0.55;0.305;0.227	T	0.79619	-0.1728	10	0.49607	T	0.09	-12.7873	20.5632	0.99335	0.0:1.0:0.0:0.0	.	563;509;503;534;557;557	F2Z2Y1;E7ESD5;E7EN58;O95677-2;O95677-4;O95677	.;.;.;.;.;EYA4_HUMAN	V	503;509;557;557;534;563;534;557	ENSP00000395916:A503V;ENSP00000388670:A509V;ENSP00000356870:A557V;ENSP00000347294:A557V;ENSP00000347434:A534V;ENSP00000432770:A563V;ENSP00000433219:A534V;ENSP00000404558:A557V	ENSP00000347294:A557V	A	+	2	0	EYA4	133885940	1.000000	0.71417	0.995000	0.50966	0.885000	0.51271	7.776000	0.85560	2.937000	0.99478	0.650000	0.86243	GCG		0.338	EYA4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042282.2	NM_004100		13	90	0	0	0	1	0	13	90				
DPY19L2P1	554236	broad.mit.edu	37	7	35131480	35131480	+	RNA	SNP	A	A	T			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr7:35131480A>T	ENST00000436258.1	-	0	1889							Q6NXN4	D19P1_HUMAN	DPY19L2 pseudogene 1							integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)										ATCTTCGTAAAGTGGATGATT	0.423																																						ENST00000436258.1																			0																																																			0							g.chr7:35131480A>T	BC066987		7p14.2	2014-03-18	2013-09-12		ENSG00000189212	ENSG00000189212			22305	pseudogene	pseudogene			"""dpy-19-like 2 pseudogene 1 (C. elegans)"""				Standard	NR_002833		Approved		uc031swy.1	Q6NXN4	OTTHUMG00000155026		7.37:g.35131480A>T														0	1889	-								B4E2E3	RNA	SNP	ENST00000436258.1	37																																																																																						0.423	DPY19L2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000338113.1			3	62	0	0	0	1	0	3	62				
NES	10763	broad.mit.edu	37	1	156647011	156647011	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr1:156647011T>C	ENST00000368223.3	-	1	178	c.46A>G	c.(46-48)Aat>Gat	p.N16D		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	16	Coil 1A.|Rod.				brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AGGCGCCGATTGAGCTCCCAC	0.672																																						ENST00000368223.3																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64						c.(46-48)Aat>Gat		nestin							13.0	16.0	15.0					1																	156647011		2050	4197	6247	SO:0001583	missense	10763				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity	g.chr1:156647011T>C	X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688		"""Intermediate filaments type IV"""	7756	protein-coding gene	gene with protein product		600915				1478958, 9104587	Standard	NM_006617		Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.46A>G	1.37:g.156647011T>C	ENSP00000357206:p.Asn16Asp						p.N16D	NM_006617.1	NP_006608.1	P48681	NEST_HUMAN			1	178	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		16			Coil 1A.|Rod.		O00552|Q3LIF5|Q5SYZ6	Missense_Mutation	SNP	ENST00000368223.3	37	c.46A>G	CCDS1151.1	.	.	.	.	.	.	.	.	.	.	T	32	5.132962	0.94517	.	.	ENSG00000132688	ENST00000368223;ENST00000255024	D	0.96554	-4.05	4.98	4.98	0.66077	Filament (1);	.	.	.	.	D	0.98005	0.9343	M	0.88640	2.97	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99177	1.0866	9	0.87932	D	0	.	13.4842	0.61355	0.0:0.0:0.0:1.0	.	16	P48681	NEST_HUMAN	D	16	ENSP00000357206:N16D	ENSP00000255024:N16D	N	-	1	0	NES	154913635	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.452000	0.66638	1.841000	0.53522	0.379000	0.24179	AAT		0.672	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082844.2	NM_006617		5	28	0	0	0	1	0	5	28				
TUBB8P7	197331	broad.mit.edu	37	16	90161578	90161578	+	RNA	SNP	G	G	A	rs13337896	byFrequency	TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr16:90161578G>A	ENST00000564451.1	+	0	931				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.R105H(3)									GCCAAGGGACGCTACACCGAA	0.587													.|||	668	0.133387	0.0386	0.1499	5008	,	,		18807	0.4087		0.0537	False		,,,				2504	0.0481					ENST00000567960.1																			3	Substitution - Missense(3)	p.R105H(3)	urinary_tract(1)|prostate(1)|kidney(1)																																																0							g.chr16:90161578G>A			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90161578G>A						TUBB8P7_ENST00000564451.1_RNA								0	314	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.587	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		3	35	0	0	0	1	0	3	35				
CLEC7A	64581	broad.mit.edu	37	12	10271128	10271128	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr12:10271128C>T	ENST00000304084.8	-	6	827	c.673G>A	c.(673-675)Gtg>Atg	p.V225M	CLEC7A_ENST00000298523.5_Missense_Mutation_p.R139H|CLEC7A_ENST00000533022.1_Missense_Mutation_p.R185H|CLEC7A_ENST00000353231.5_Missense_Mutation_p.V179M|CLEC7A_ENST00000396484.2_Missense_Mutation_p.V146M	NM_197947.2	NP_922938.1	Q9BXN2	CLC7A_HUMAN	C-type lectin domain family 7, member A	225	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				carbohydrate mediated signaling (GO:0009756)|cell recognition (GO:0008037)|defense response to protozoan (GO:0042832)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)|phagocytosis, recognition (GO:0006910)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|MHC protein binding (GO:0042287)|signaling pattern recognition receptor activity (GO:0008329)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	7						ATGACTGACACGTGAATCCAT	0.378																																						ENST00000353231.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	7						c.(535-537)Gtg>Atg		C-type lectin domain family 7, member A							180.0	169.0	173.0					12																	10271128		2203	4300	6503	SO:0001583	missense	64581				carbohydrate mediated signaling|defense response to protozoan|inflammatory response|innate immune response|phagocytosis, recognition|T cell activation	cytoplasm|integral to membrane	metal ion binding|MHC protein binding|sugar binding	g.chr12:10271128C>T	AY009090	CCDS8613.1, CCDS8614.1, CCDS8617.1, CCDS41753.1, CCDS41754.1, CCDS53744.1	12p13.2-p12.3	2014-09-17		2005-02-09	ENSG00000172243	ENSG00000172243		"""C-type lectin domain containing"""	14558	protein-coding gene	gene with protein product		606264	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 12"""	CLECSF12			Standard	XM_005253468		Approved	dectin-1, hDectin-1	uc001qxg.2	Q9BXN2	OTTHUMG00000133597	ENST00000304084.8:c.673G>A	12.37:g.10271128C>T	ENSP00000302569:p.Val225Met					CLEC7A_ENST00000396484.2_Missense_Mutation_p.V146M|CLEC7A_ENST00000304084.8_Missense_Mutation_p.V225M|CLEC7A_ENST00000298523.5_Missense_Mutation_p.R139H|CLEC7A_ENST00000533022.1_Missense_Mutation_p.R185H	p.V179M	NM_022570.4	NP_072092.2	Q9BXN2	CLC7A_HUMAN			5	693	-			225			C-type lectin.		B2R861|B7Z494|B7Z5A9|B7Z5B9|Q6IPS7|Q96D32|Q96DR9|Q96LD3|Q96PA4|Q96PA5|Q96PA6|Q96PA7|Q96PA8|Q9H1K3	Missense_Mutation	SNP	ENST00000304084.8	37	c.535G>A	CCDS41753.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	2.421|2.421	-0.333113|-0.333113	0.05278|0.05278	.|.	.|.	ENSG00000172243|ENSG00000172243	ENST00000298523;ENST00000533022|ENST00000353231;ENST00000396484;ENST00000304084	T;T|T;T;T	0.07444|0.18810	3.19;3.32|2.19;2.19;2.19	3.84|3.84	-4.82|-4.82	0.03171|0.03171	.|C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	.|1.261980	.|0.05787	.|N	.|0.609560	T|T	0.11623|0.11623	0.0283|0.0283	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	B;B|P;P;P	0.02656|0.40431	0.0;0.0|0.481;0.717;0.676	B;B|B;B;B	0.01281|0.33454	0.0;0.0|0.075;0.164;0.068	T|T	0.21724|0.21724	-1.0237|-1.0237	8|9	0.51188|0.40728	T|T	0.08|0.16	.|.	6.4407|6.4407	0.21849|0.21849	0.0:0.188:0.4335:0.3785|0.0:0.188:0.4335:0.3785	.|.	185;139|146;225;179	Q9BXN2-3;Q9BXN2-7|Q9BXN2-5;Q9BXN2;Q9BXN2-2	.;.|.;CLC7A_HUMAN;.	H|M	139;185|179;146;225	ENSP00000298523:R139H;ENSP00000431461:R185H|ENSP00000266456:V179M;ENSP00000379743:V146M;ENSP00000302569:V225M	ENSP00000298523:R139H|ENSP00000302569:V225M	R|V	-|-	2|1	0|0	CLEC7A|CLEC7A	10162395|10162395	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.015000|0.015000	0.08874|0.08874	-4.665000|-4.665000	0.00201|0.00201	-1.149000|-1.149000	0.02843|0.02843	-0.843000|-0.843000	0.03049|0.03049	CGT|GTG		0.378	CLEC7A-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390772.1	NM_197954		11	112	0	0	0	1	0	11	112				
TDRD1	56165	broad.mit.edu	37	10	115971690	115971690	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr10:115971690T>C	ENST00000369280.1	+	14	2186	c.1726T>C	c.(1726-1728)Tat>Cat	p.Y576H	TDRD1_ENST00000369281.2_Intron|TDRD1_ENST00000422662.1_Intron|TDRD1_ENST00000251864.2_Missense_Mutation_p.Y576H|TDRD1_ENST00000369282.1_Missense_Mutation_p.Y576H			Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	576	Tudor 2. {ECO:0000255|PROSITE- ProRule:PRU00211}.				DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ cell development (GO:0007281)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)	metal ion binding (GO:0046872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		ACTGGTCGGATATGTAGATTA	0.393																																						ENST00000251864.2																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48						c.(1726-1728)Tat>Cat		tudor domain containing 1							173.0	165.0	168.0					10																	115971690		2203	4300	6503	SO:0001583	missense	56165				DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding	g.chr10:115971690T>C	AF285606	CCDS7588.1	10q26.11	2013-01-23			ENSG00000095627	ENSG00000095627		"""Tudor domain containing"""	11712	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.1"""	605796				11279525	Standard	NM_198795		Approved	CT41.1	uc001lbg.1	Q9BXT4	OTTHUMG00000019083	ENST00000369280.1:c.1726T>C	10.37:g.115971690T>C	ENSP00000358286:p.Tyr576His					TDRD1_ENST00000369281.2_Intron|TDRD1_ENST00000369282.1_Missense_Mutation_p.Y576H|TDRD1_ENST00000422662.1_Intron|TDRD1_ENST00000369280.1_Missense_Mutation_p.Y576H	p.Y576H	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN		Epithelial(162;0.0343)|all cancers(201;0.0754)	14	1879	+		Colorectal(252;0.172)|Breast(234;0.188)	576			Tudor 2.		A6NEN3|A6NMN2|B3KVI4|B4E2L5|D3DRC2|Q4G0Y8|Q6P518|Q9H7B3	Missense_Mutation	SNP	ENST00000369280.1	37	c.1726T>C		.	.	.	.	.	.	.	.	.	.	T	23.6	4.429727	0.83776	.	.	ENSG00000095627	ENST00000369282;ENST00000251864;ENST00000369280	T;T;T	0.12147	2.71;2.71;2.71	5.8	5.8	0.92144	Tudor subgroup (1);Maternal tudor protein (1);Tudor domain (1);	0.066303	0.64402	D	0.000007	T	0.44623	0.1302	M	0.89478	3.035	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.51655	-0.8678	10	0.62326	D	0.03	-21.952	14.7213	0.69308	0.0:0.0:0.0:1.0	.	576;576	Q9BXT4;Q9BXT4-3	TDRD1_HUMAN;.	H	576	ENSP00000358288:Y576H;ENSP00000251864:Y576H;ENSP00000358286:Y576H	ENSP00000251864:Y576H	Y	+	1	0	TDRD1	115961680	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	6.666000	0.74446	2.203000	0.70933	0.460000	0.39030	TAT		0.393	TDRD1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050457.2			5	81	0	0	0	1	0	5	81				
FAM47C	442444	broad.mit.edu	37	X	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	rs145580328		TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642																																						ENST00000358047.3																			7	Substitution - Missense(7)	p.N648D(7)	urinary_tract(2)|prostate(2)|lung(2)|skin(1)	breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(1942-1944)Aat>Gat		family with sequence similarity 47, member C							51.0	56.0	55.0					X																	37028425		2201	4299	6500	SO:0001583	missense	442444							g.chrX:37028425A>G	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1942A>G	X.37:g.37028425A>G	ENSP00000367913:p.Asn648Asp						p.N648D	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	1994	+			648					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.1942A>G	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	-	3.343	-0.134139	0.06711	.	.	ENSG00000198173	ENST00000358047	T	0.13196	2.61	1.61	-3.22	0.05125	.	.	.	.	.	T	0.04543	0.0124	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38993	-0.9635	9	0.20519	T	0.43	.	0.6811	0.00875	0.2356:0.2078:0.3498:0.2069	.	648	Q5HY64	FA47C_HUMAN	D	648	ENSP00000367913:N648D	ENSP00000367913:N648D	N	+	1	0	FAM47C	36938346	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.937000	0.01547	-1.437000	0.01967	-1.178000	0.01721	AAT		0.642	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		4	78	0	0	0	1	0	4	78				
MYO1H	283446	broad.mit.edu	37	12	109834250	109834250	+	Missense_Mutation	SNP	C	C	G			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr12:109834250C>G	ENST00000431443.2	+	3	304	c.304C>G	c.(304-306)Ctc>Gtc	p.L102V	MYO1H_ENST00000310903.5_Missense_Mutation_p.L102V	NM_001101421.3	NP_001094891.3	Q8N1T3	MYO1H_HUMAN	myosin IH	102	Myosin motor.					myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						CCATTTCATCCTCATTTCTGG	0.458																																						ENST00000310903.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						c.(304-306)Ctc>Gtc		myosin IH							68.0	68.0	68.0					12																	109834250		1957	4152	6109	SO:0001583	missense	283446					myosin complex	motor activity	g.chr12:109834250C>G		CCDS53826.1	12q24.11	2011-09-27			ENSG00000174527	ENSG00000174527		"""Myosins / Myosin superfamily : Class I"""	13879	protein-coding gene	gene with protein product		614636					Standard	NM_001101421		Approved	FLJ37587	uc010sxn.1	Q8N1T3	OTTHUMG00000169252	ENST00000431443.2:c.304C>G	12.37:g.109834250C>G	ENSP00000444076:p.Leu102Val					MYO1H_ENST00000431443.2_Missense_Mutation_p.L102V	p.L102V			B4DNW6	B4DNW6_HUMAN			4	410	+			0					F5H3C6	Missense_Mutation	SNP	ENST00000431443.2	37	c.304C>G		.	.	.	.	.	.	.	.	.	.	C	21.3	4.131520	0.77662	.	.	ENSG00000174527	ENST00000310903;ENST00000431443	D;D	0.85773	-2.03;-2.03	4.8	4.8	0.61643	.	.	.	.	.	D	0.90331	0.6975	L	0.60067	1.865	0.43719	D	0.996198	D	0.89917	1.0	D	0.87578	0.998	D	0.87617	0.2507	9	0.24483	T	0.36	.	17.7816	0.88526	0.0:1.0:0.0:0.0	.	102	F5H3C6	.	V	102	ENSP00000439182:L102V;ENSP00000444076:L102V	ENSP00000439182:L102V	L	+	1	0	MYO1H	108318633	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.258000	0.51507	2.615000	0.88500	0.644000	0.83932	CTC		0.458	MYO1H-201	KNOWN	basic	protein_coding	protein_coding		NM_173597		4	40	0	0	0	1	0	4	40				
GPM6B	2824	broad.mit.edu	37	X	13798050	13798050	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chrX:13798050G>A	ENST00000356942.5	-	4	905	c.464C>T	c.(463-465)gCg>gTg	p.A155V	GPM6B_ENST00000493677.1_Missense_Mutation_p.A169V|GPM6B_ENST00000398361.3_Missense_Mutation_p.A69V|GPM6B_ENST00000454189.2_Missense_Mutation_p.A136V|GPM6B_ENST00000316715.4_Missense_Mutation_p.A195V|GPM6B_ENST00000355135.2_Missense_Mutation_p.A195V	NM_005278.3	NP_005269.1	Q13491	GPM6B_HUMAN	glycoprotein M6B	155					cell differentiation (GO:0030154)|extracellular matrix assembly (GO:0085029)|negative regulation of protein localization to cell surface (GO:2000009)|negative regulation of serotonin uptake (GO:0051612)|nervous system development (GO:0007399)|ossification (GO:0001503)|positive regulation of bone mineralization (GO:0030501)|protein transport (GO:0015031)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of focal adhesion assembly (GO:0051893)	integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)|pancreas(1)	6						CACGGGCACCGCTGAGAAACC	0.502																																						ENST00000454189.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)|pancreas(1)	6						c.(406-408)gCg>gTg		glycoprotein M6B							185.0	150.0	161.0					X																	13798050		2203	4300	6503	SO:0001583	missense	2824				cell differentiation|nervous system development	integral to membrane		g.chrX:13798050G>A		CCDS14158.1, CCDS35206.1, CCDS35207.1, CCDS48084.1	Xp22.2	2010-08-03			ENSG00000046653	ENSG00000046653			4461	protein-coding gene	gene with protein product		300051				8661015	Standard	NM_001001995		Approved	M6B, MGC17150, MGC54284	uc004cvw.3	Q13491	OTTHUMG00000021162	ENST00000356942.5:c.464C>T	X.37:g.13798050G>A	ENSP00000349420:p.Ala155Val					GPM6B_ENST00000316715.4_Missense_Mutation_p.A195V|GPM6B_ENST00000398361.3_Missense_Mutation_p.A69V|GPM6B_ENST00000355135.2_Missense_Mutation_p.A195V|GPM6B_ENST00000493677.1_Missense_Mutation_p.A169V|GPM6B_ENST00000356942.5_Missense_Mutation_p.A155V	p.A136V	NM_001001994.1	NP_001001994.1	Q13491	GPM6B_HUMAN			4	534	-			155					O76077|Q86X43|Q8N956	Missense_Mutation	SNP	ENST00000356942.5	37	c.407C>T	CCDS14158.1	.	.	.	.	.	.	.	.	.	.	G	30	5.058101	0.93846	.	.	ENSG00000046653	ENST00000316715;ENST00000454189;ENST00000493677;ENST00000355135;ENST00000356942;ENST00000398361;ENST00000495211;ENST00000493085;ENST00000468080	D;D;D;D;D;D;D;D;D	0.99470	-5.96;-5.96;-5.96;-5.96;-5.96;-5.96;-5.96;-5.96;-5.96	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	D	0.99381	0.9782	M	0.75615	2.305	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.973;1.0;1.0	D;D;D;P;D;D	0.97110	1.0;0.982;1.0;0.758;1.0;0.999	D	0.99976	1.2197	10	0.12430	T	0.62	-3.5203	18.5412	0.91029	0.0:0.0:1.0:0.0	.	169;136;155;195;147;195	B7Z613;Q13491-2;Q13491;Q13491-3;Q59FD5;Q8N956	.;.;GPM6B_HUMAN;.;.;.	V	195;136;169;195;155;69;120;69;69	ENSP00000316861:A195V;ENSP00000389915:A136V;ENSP00000419904:A169V;ENSP00000347258:A195V;ENSP00000349420:A155V;ENSP00000381402:A69V;ENSP00000419409:A120V;ENSP00000418199:A69V;ENSP00000419779:A69V	ENSP00000316861:A195V	A	-	2	0	GPM6B	13707971	1.000000	0.71417	0.984000	0.44739	0.767000	0.43475	9.360000	0.97119	2.408000	0.81797	0.544000	0.68410	GCG		0.502	GPM6B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055822.1	NM_001001995		3	95	0	0	0	1	0	3	95				
LOC100289333	100289333	broad.mit.edu	37	19	12318166	12318166	+	lincRNA	SNP	A	A	G			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr19:12318166A>G	ENST00000426044.1	+	0	127																											GCCTTTGAGGATGTGGCAGTG	0.463																																						ENST00000426044.1																			0																																																			0							g.chr19:12318166A>G																													19.37:g.12318166A>G														0	127	+									RNA	SNP	ENST00000426044.1	37																																																																																						0.463	CTD-2666L21.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000344136.1			14	54	0	0	0	1	0	14	54				
MED12	9968	broad.mit.edu	37	X	70349255	70349255	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chrX:70349255G>C	ENST00000374080.3	+	26	3699	c.3667G>C	c.(3667-3669)Gtt>Ctt	p.V1223L	MED12_ENST00000333646.6_Missense_Mutation_p.V1223L|MED12_ENST00000374102.1_Missense_Mutation_p.V1223L			Q93074	MED12_HUMAN	mediator complex subunit 12	1223					androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					CGTGTTTGCTGTTCTCAAGGC	0.572			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome				OREG0019857	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000333646.6				Dom	yes		X	Xq13	9968	"""M, S"""	mediator complex subunit 12	Yes	Opitz-Kaveggia Syndrome	M			uterine leiomyoma		0				breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420						c.(3667-3669)Gtt>Ctt		mediator complex subunit 12							50.0	52.0	51.0					X																	70349255		2088	4191	6279	SO:0001583	missense	9968				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:70349255G>C	U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"""trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1"""	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.3667G>C	X.37:g.70349255G>C	ENSP00000363193:p.Val1223Leu		OREG0019857	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1121	MED12_ENST00000374102.1_Missense_Mutation_p.V1223L|MED12_ENST00000374080.3_Missense_Mutation_p.V1223L	p.V1223L	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN			26	3866	+	Renal(35;0.156)		1223					O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	ENST00000374080.3	37	c.3667G>C	CCDS43970.1	.	.	.	.	.	.	.	.	.	.	.	24.7	4.557493	0.86231	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072	T;T;T;T	0.33654	1.4;1.4;1.4;1.4	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.59542	0.2201	M	0.72353	2.195	0.80722	D	1	P;D;P;P	0.53885	0.929;0.963;0.929;0.939	D;P;D;P	0.67231	0.95;0.859;0.95;0.863	T	0.59043	-0.7528	10	0.45353	T	0.12	-14.5208	17.9253	0.88982	0.0:0.0:1.0:0.0	.	1223;1070;1223;1223	F5H3Y1;Q7Z3Z5;Q93074-3;Q93074	.;.;.;MED12_HUMAN	L	1223;1223;1223;1223;1191	ENSP00000333125:V1223L;ENSP00000363215:V1223L;ENSP00000363193:V1223L;ENSP00000414203:V1191L	ENSP00000333125:V1223L	V	+	1	0	MED12	70265980	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.962000	0.93254	2.509000	0.84616	0.529000	0.55759	GTT		0.572	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120		13	20	0	0	0	1	0	13	20				
MTERF3	51001	broad.mit.edu	37	8	97269341	97269341	+	Splice_Site	SNP	T	T	C			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr8:97269341T>C	ENST00000287025.3	-	3	434	c.336A>G	c.(334-336)gaA>gaG	p.E112E	MTERFD1_ENST00000524341.1_5'Flank|MTERFD1_ENST00000523821.1_Splice_Site_p.E112E|MTERFD1_ENST00000522822.1_5'UTR	NM_015942.3	NP_057026.3	Q96E29	MTEF3_HUMAN		112					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)	transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	24	Breast(36;5.16e-05)					ATTCATCCAGTTCTTTGAAAG	0.408																																						ENST00000523821.1																			0				endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	24						c.e3-1		MTERF domain containing 1							103.0	98.0	100.0					8																	97269341		2203	4300	6503	SO:0001630	splice_region_variant	51001				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion	transcription regulatory region DNA binding	g.chr8:97269341T>C																												ENST00000287025.3:c.335-1A>G	8.37:g.97269341T>C						MTERFD1_ENST00000287025.3_Splice_Site_p.E112_splice|MTERFD1_ENST00000522822.1_5'UTR	p.E112_splice			Q96E29	MTER1_HUMAN			3	455	-	Breast(36;5.16e-05)		112					B3KMG6|G3V130|Q9Y301	Splice_Site	SNP	ENST00000287025.3	37	c.334_splice	CCDS6270.1																																																																																				0.408	MTERFD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379876.1		Silent	4	77	0	0	0	1	0	4	77				
SNHG14	104472715	broad.mit.edu	37	15	25449418	25449418	+	RNA	SNP	C	C	T			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr15:25449418C>T	ENST00000424208.1	+	0	2310				SNORD115-17_ENST00000364612.1_RNA|SNORD115-20_ENST00000365099.1_RNA|SNORD115-18_ENST00000363293.1_RNA|SNHG14_ENST00000424333.1_RNA|SNORD115-19_ENST00000363098.1_RNA|SNHG14_ENST00000450809.1_RNA	NR_003305.1				small nucleolar RNA host gene 14 (non-protein coding)																		CAGGCCCTTCCTGTTGCCCTA	0.622																																						ENST00000424208.1																			0																																																			0							g.chr15:25449418C>T			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.25449418C>T						SNHG14_ENST00000424333.1_RNA		NR_003305.1						0	2310	+									RNA	SNP	ENST00000424208.1	37																																																																																						0.622	SNHG14-002	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000126729.2			5	30	0	0	0	1	0	5	30				
PHF3	23469	broad.mit.edu	37	6	64394235	64394235	+	Silent	SNP	C	C	T	rs79636606	byFrequency	TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr6:64394235C>T	ENST00000262043.3	+	4	952	c.612C>T	c.(610-612)agC>agT	p.S204S	PHF3_ENST00000509330.1_Silent_p.S204S|PHF3_ENST00000393387.1_Silent_p.S204S			Q92576	PHF3_HUMAN	PHD finger protein 3	204					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			GCCGAAATAGCGGACAAATTG	0.403													C|||	9	0.00179712	0.0045	0.0	5008	,	,		19497	0.003		0.0	False		,,,				2504	0.0				GBM(135;136 1820 29512 34071 46235)	ENST00000262043.3																			0				breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75						c.(610-612)agC>agT		PHD finger protein 3		C		12,4394	21.2+/-45.6	0,12,2191	163.0	133.0	143.0		612	0.5	0.0	6	dbSNP_132	143	0,8600		0,0,4300	no	coding-synonymous	PHF3	NM_015153.2		0,12,6491	TT,TC,CC		0.0,0.2724,0.0923		204/2040	64394235	12,12994	2203	4300	6503	SO:0001819	synonymous_variant	23469				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr6:64394235C>T	AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"""Zinc fingers, PHD-type"""	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.612C>T	6.37:g.64394235C>T						PHF3_ENST00000509330.1_Silent_p.S204S|PHF3_ENST00000393387.1_Silent_p.S204S	p.S204S			Q92576	PHF3_HUMAN	LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)		4	952	+	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		204					A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Silent	SNP	ENST00000262043.3	37	c.612C>T	CCDS4966.1																																																																																				0.403	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2			4	82	0	0	0	1	0	4	82				
LPA	4018	broad.mit.edu	37	6	161020597	161020597	+	Silent	SNP	A	A	G			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr6:161020597A>G	ENST00000316300.5	-	20	3266	c.3222T>C	c.(3220-3222)acT>acC	p.T1074T	LPA_ENST00000447678.1_Silent_p.T1074T			P08519	APOA_HUMAN	lipoprotein, Lp(a)	3582	Kringle 10. {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)	AAGCTTGGCAAGTTCTTCCTG	0.498																																						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.(3220-3222)acT>acC		lipoprotein, Lp(a)	Aminocaproic Acid(DB00513)						283.0	303.0	296.0					6																	161020597		2203	4300	6503	SO:0001819	synonymous_variant	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.chr6:161020597A>G	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.3222T>C	6.37:g.161020597A>G						LPA_ENST00000316300.5_Silent_p.T1074T	p.T1074T	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)	21	3342	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)	3582			Kringle 10.		Q5VTD7|Q9UD88	Silent	SNP	ENST00000316300.5	37	c.3222T>C	CCDS43523.1																																																																																				0.498	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577		5	516	0	0	0	1	0	5	516				
TIFA	92610	broad.mit.edu	37	4	113199473	113199473	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr4:113199473T>C	ENST00000361717.3	-	2	381	c.100A>G	c.(100-102)Ata>Gta	p.I34V	TIFA_ENST00000500655.2_Missense_Mutation_p.I34V	NM_052864.2	NP_443096.1	Q96CG3	TIFA_HUMAN	TRAF-interacting protein with forkhead-associated domain	34					I-kappaB kinase/NF-kappaB signaling (GO:0007249)					breast(2)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)	6		Ovarian(17;0.0443)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00172)		TTAAAACTTATTGACTGAAAT	0.428																																						ENST00000361717.2																			0				breast(2)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)	6						c.(100-102)Ata>Gta		TRAF-interacting protein with forkhead-associated domain							89.0	96.0	94.0					4																	113199473		2203	4298	6501	SO:0001583	missense	92610						protein binding	g.chr4:113199473T>C	BC008294	CCDS34051.1	4q25	2008-03-17				ENSG00000145365			19075	protein-coding gene	gene with protein product	"""TRAF2 binding protein"", ""TRAF6 binding protein"""	609028				1179819	Standard	NM_052864		Approved	MGC20791, T2BP, T6BP, TIFAA	uc003ial.3	Q96CG3		ENST00000361717.3:c.100A>G	4.37:g.113199473T>C	ENSP00000354911:p.Ile34Val					TIFA_ENST00000500655.2_Missense_Mutation_p.I34V	p.I34V	NM_052864.2	NP_443096.1	Q96CG3	TIFA_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00172)	2	381	-		Ovarian(17;0.0443)|Hepatocellular(203;0.217)	34						Missense_Mutation	SNP	ENST00000361717.3	37	c.100A>G	CCDS34051.1	.	.	.	.	.	.	.	.	.	.	T	3.746	-0.052541	0.07362	.	.	ENSG00000145365	ENST00000361717;ENST00000438746;ENST00000500655	T;T	0.43294	0.95;0.95	5.92	4.81	0.61882	.	0.178513	0.49916	D	0.000123	T	0.35189	0.0923	L	0.60455	1.87	0.09310	N	1	P	0.37441	0.595	B	0.31869	0.137	T	0.41016	-0.9532	10	0.49607	T	0.09	-0.0053	9.3568	0.38171	0.0994:0.0:0.1831:0.7175	.	34	Q96CG3	TIFA_HUMAN	V	34	ENSP00000354911:I34V;ENSP00000424231:I34V	ENSP00000354911:I34V	I	-	1	0	TIFA	113418922	0.060000	0.20803	0.033000	0.17914	0.451000	0.32288	1.164000	0.31810	2.277000	0.76020	0.528000	0.53228	ATA		0.428	TIFA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363647.2	NM_052864		46	121	0	0	0	1	0	46	121				
FAM120C	54954	broad.mit.edu	37	X	54185950	54185950	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chrX:54185950A>G	ENST00000375180.2	-	2	855	c.799T>C	c.(799-801)Tac>Cac	p.Y267H	FAM120C_ENST00000328235.4_Missense_Mutation_p.Y267H	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	267							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						GGAATATTGTAGAGAGCATAC	0.483																																						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.(799-801)Tac>Cac		family with sequence similarity 120C							119.0	96.0	104.0					X																	54185950		2203	4300	6503	SO:0001583	missense	54954							g.chrX:54185950A>G	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.799T>C	X.37:g.54185950A>G	ENSP00000364324:p.Tyr267His					FAM120C_ENST00000328235.4_Missense_Mutation_p.Y267H	p.Y267H	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN			2	855	-			267					B2RMT7	Missense_Mutation	SNP	ENST00000375180.2	37	c.799T>C	CCDS14356.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.438204	0.83885	.	.	ENSG00000184083	ENST00000375180;ENST00000328235	T;T	0.43294	0.95;0.95	5.0	5.0	0.66597	.	0.065492	0.64402	D	0.000002	T	0.47801	0.1465	N	0.24115	0.695	0.80722	D	1	D;D	0.64830	0.994;0.994	D;P	0.65443	0.935;0.861	T	0.50030	-0.8875	10	0.54805	T	0.06	-8.8414	12.7441	0.57270	1.0:0.0:0.0:0.0	.	267;267	F8W881;Q9NX05	.;F120C_HUMAN	H	267	ENSP00000364324:Y267H;ENSP00000329896:Y267H	ENSP00000329896:Y267H	Y	-	1	0	FAM120C	54202675	1.000000	0.71417	0.984000	0.44739	0.990000	0.78478	5.989000	0.70587	1.646000	0.50622	0.412000	0.27726	TAC		0.483	FAM120C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056795.2	NM_017848		3	45	0	0	0	1	0	3	45				
MAP7D3	79649	broad.mit.edu	37	X	135314292	135314292	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chrX:135314292G>T	ENST00000316077.9	-	8	1044	c.824C>A	c.(823-825)cCc>cAc	p.P275H	MAP7D3_ENST00000370663.5_Missense_Mutation_p.P257H|MAP7D3_ENST00000370661.1_Missense_Mutation_p.P240H	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	275					microtubule cytoskeleton organization (GO:0000226)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					TGTCGACATGGGAAACATAAC	0.463																																						ENST00000316077.9																			0				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44						c.(823-825)cCc>cAc		MAP7 domain containing 3							173.0	157.0	162.0					X																	135314292		1931	4118	6049	SO:0001583	missense	79649					cytoplasm|spindle		g.chrX:135314292G>T	AL832120	CCDS44004.1, CCDS55508.1, CCDS55509.1	Xq26.3	2014-08-13			ENSG00000129680	ENSG00000129680			25742	protein-coding gene	gene with protein product		300930				24927501	Standard	NM_001173516		Approved	FLJ12649	uc004ezt.3	Q8IWC1	OTTHUMG00000022507	ENST00000316077.9:c.824C>A	X.37:g.135314292G>T	ENSP00000318086:p.Pro275His					MAP7D3_ENST00000370661.1_Missense_Mutation_p.P240H|MAP7D3_ENST00000370663.5_Missense_Mutation_p.P257H	p.P275H	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN			8	1044	-	Acute lymphoblastic leukemia(192;0.000127)		275					A2A2J0|A6NCZ7|A6NHR4|B4DWD2|H7BY77|Q5JXI5|Q5JXI6|Q6P2S1|Q9H9M8	Missense_Mutation	SNP	ENST00000316077.9	37	c.824C>A	CCDS44004.1	.	.	.	.	.	.	.	.	.	.	G	3.643	-0.073125	0.07228	.	.	ENSG00000129680	ENST00000370661;ENST00000316077;ENST00000370663	T;T;T	0.64260	2.17;-0.09;-0.09	5.0	-5.39	0.02664	.	2.351530	0.02512	N	0.091647	T	0.43567	0.1253	L	0.32530	0.975	0.09310	N	1	B;B;B	0.18863	0.031;0.031;0.011	B;B;B	0.15052	0.005;0.005;0.012	T	0.16482	-1.0401	10	0.14656	T	0.56	1.2367	4.0787	0.09916	0.0731:0.3248:0.2735:0.3286	.	257;275;240	B4DWD2;Q8IWC1;Q8IWC1-3	.;MA7D3_HUMAN;.	H	240;275;257	ENSP00000359695:P240H;ENSP00000318086:P275H;ENSP00000359697:P257H	ENSP00000318086:P275H	P	-	2	0	MAP7D3	135141958	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.281000	0.02802	-1.399000	0.02063	-0.279000	0.10071	CCC		0.463	MAP7D3-001	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058487.2			3	109	1	0	0.115264	1	0.115264	3	109				
FHOD1	29109	broad.mit.edu	37	16	67266040	67266040	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr16:67266040C>T	ENST00000258201.4	-	14	2351	c.2104G>A	c.(2104-2106)Gcc>Acc	p.A702T		NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	702	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.|Interaction with ROCK1.				positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		ATGTTGATGGCGTTGCTGCGC	0.562																																						ENST00000258201.4																			0				breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						c.(2104-2106)Gcc>Acc		formin homology 2 domain containing 1							183.0	141.0	155.0					16																	67266040		2198	4300	6498	SO:0001583	missense	29109				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding	g.chr16:67266040C>T	AF113615	CCDS10834.1	16q22	2008-02-22			ENSG00000135723	ENSG00000135723			17905	protein-coding gene	gene with protein product		606881				10352228, 16112087	Standard	NM_013241		Approved	FHOS	uc002esl.3	Q9Y613	OTTHUMG00000137521	ENST00000258201.4:c.2104G>A	16.37:g.67266040C>T	ENSP00000258201:p.Ala702Thr					FHOD1_ENST00000567687.1_Missense_Mutation_p.A281T	p.A702T	NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)	14	2351	-		Ovarian(137;0.0563)	702			FH2.|Interaction with ROCK1.		Q59F76|Q6Y1F2|Q76MS8|Q8N521	Missense_Mutation	SNP	ENST00000258201.4	37	c.2104G>A	CCDS10834.1	.	.	.	.	.	.	.	.	.	.	C	19.47	3.833932	0.71373	.	.	ENSG00000135723	ENST00000258201	T	0.16897	2.31	5.75	5.75	0.90469	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.095895	0.64402	D	0.000001	T	0.43919	0.1269	M	0.76574	2.34	0.80722	D	1	D	0.64830	0.994	D	0.67548	0.952	T	0.29027	-1.0025	10	0.72032	D	0.01	.	18.503	0.90888	0.0:1.0:0.0:0.0	.	702	Q9Y613	FHOD1_HUMAN	T	702	ENSP00000258201:A702T	ENSP00000258201:A702T	A	-	1	0	FHOD1	65823541	1.000000	0.71417	0.991000	0.47740	0.971000	0.66376	7.818000	0.86416	2.713000	0.92767	0.655000	0.94253	GCC		0.562	FHOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268844.2			6	74	0	0	0	1	0	6	74				
CD1A	909	broad.mit.edu	37	1	158226847	158226847	+	Silent	SNP	C	C	T			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr1:158226847C>T	ENST00000289429.5	+	4	1409	c.876C>T	c.(874-876)ctC>ctT	p.L292L		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	292					antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	ACATCGTCCTCTACTGGGGTG	0.567																																						ENST00000289429.5																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32						c.(874-876)ctC>ctT		CD1a molecule	Antithymocyte globulin(DB00098)						52.0	51.0	51.0					1																	158226847		2203	4300	6503	SO:0001819	synonymous_variant	909				antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex		g.chr1:158226847C>T	M28825	CCDS1174.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158477	ENSG00000158477		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1634	protein-coding gene	gene with protein product		188370	"""CD1A antigen, a polypeptide"", ""CD1a antigen"""	CD1		2447586, 2784820	Standard	NM_001763		Approved		uc001frt.3	P06126	OTTHUMG00000017512	ENST00000289429.5:c.876C>T	1.37:g.158226847C>T							p.L292L	NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN			4	1409	+	all_hematologic(112;0.0378)		292					D3DVD7|Q13962|Q5TDJ8|Q9UMM4|Q9Y5M5	Silent	SNP	ENST00000289429.5	37	c.876C>T	CCDS1174.1																																																																																				0.567	CD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046349.2	NM_001763		5	60	0	0	0	1	0	5	60				
SRGAP1	57522	broad.mit.edu	37	12	64536384	64536384	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr12:64536384A>G	ENST00000355086.3	+	22	3714	c.3190A>G	c.(3190-3192)Aaa>Gaa	p.K1064E	SRGAP1_ENST00000357825.3_Missense_Mutation_p.K1041E|SRGAP1_ENST00000543397.1_Missense_Mutation_p.K1001E	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	1064					axon guidance (GO:0007411)|cell migration (GO:0016477)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		TGTTCTTCCAAAAACAAATCC	0.522																																						ENST00000355086.3																			0				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65						c.(3190-3192)Aaa>Gaa		SLIT-ROBO Rho GTPase activating protein 1							116.0	117.0	117.0					12																	64536384		2203	4300	6503	SO:0001583	missense	57522				axon guidance	cytosol		g.chr12:64536384A>G	AB037725	CCDS8967.1	12q13.13	2011-07-04			ENSG00000196935	ENSG00000196935		"""Rho GTPase activating proteins"""	17382	protein-coding gene	gene with protein product		606523				11672528	Standard	NM_020762		Approved	KIAA1304, ARHGAP13	uc010ssp.1	Q7Z6B7	OTTHUMG00000168750	ENST00000355086.3:c.3190A>G	12.37:g.64536384A>G	ENSP00000347198:p.Lys1064Glu					SRGAP1_ENST00000543397.1_Missense_Mutation_p.K1001E|SRGAP1_ENST00000357825.3_Missense_Mutation_p.K1041E	p.K1064E	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)	22	3714	+			1064					Q9H8A3|Q9P2P2	Missense_Mutation	SNP	ENST00000355086.3	37	c.3190A>G	CCDS8967.1	.	.	.	.	.	.	.	.	.	.	A	17.51	3.407059	0.62399	.	.	ENSG00000196935	ENST00000355086;ENST00000357825;ENST00000543397	T;T;T	0.32272	1.46;1.46;1.46	5.91	4.75	0.60458	.	0.000000	0.37178	U	0.002201	T	0.38719	0.1051	L	0.61218	1.895	0.50467	D	0.999874	B;P	0.45212	0.094;0.853	B;P	0.47430	0.039;0.547	T	0.11743	-1.0575	9	.	.	.	.	12.4335	0.55586	0.8741:0.0:0.0:0.1258	.	1064;1001	Q7Z6B7;G5EA48	SRGP1_HUMAN;.	E	1064;1041;1001	ENSP00000347198:K1064E;ENSP00000350480:K1041E;ENSP00000437948:K1001E	.	K	+	1	0	SRGAP1	62822651	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.281000	0.78621	1.037000	0.40024	0.379000	0.24179	AAA		0.522	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400896.1			4	90	0	0	0	1	0	4	90				
TEKT2	27285	broad.mit.edu	37	1	36553404	36553404	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr1:36553404G>A	ENST00000207457.3	+	9	1202	c.1075G>A	c.(1075-1077)Gca>Aca	p.A359T	ADPRHL2_ENST00000373178.4_5'Flank	NM_014466.2	NP_055281.2	Q9UIF3	TEKT2_HUMAN	tektin 2 (testicular)	359					cell projection organization (GO:0030030)|inner dynein arm assembly (GO:0036159)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|motile cilium (GO:0031514)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)|skin(2)	13		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GCTGGCGCAAGCACAGTAGGT	0.632																																						ENST00000207457.3																			0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)|skin(2)	13						c.(1075-1077)Gca>Aca		tektin 2 (testicular)							51.0	46.0	47.0					1																	36553404		2203	4300	6503	SO:0001583	missense	27285				cell projection organization|microtubule cytoskeleton organization	actin cytoskeleton|cilium axoneme|flagellar axoneme|focal adhesion|microtubule|nucleolus		g.chr1:36553404G>A	AB033823	CCDS401.1	1p34.3	2008-02-05			ENSG00000092850	ENSG00000092850			11725	protein-coding gene	gene with protein product		608953				12029069, 11751288	Standard	NM_014466		Approved	TEKTB1	uc001bzr.3	Q9UIF3	OTTHUMG00000007629	ENST00000207457.3:c.1075G>A	1.37:g.36553404G>A	ENSP00000207457:p.Ala359Thr						p.A359T	NM_014466.2	NP_055281.2	Q9UIF3	TEKT2_HUMAN			9	1202	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	359					A6NIS6|O60638	Missense_Mutation	SNP	ENST00000207457.3	37	c.1075G>A	CCDS401.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.55|14.55	2.569995|2.569995	0.45798|0.45798	.|.	.|.	ENSG00000092850|ENSG00000092850	ENST00000207457|ENST00000473120	T|.	0.03330|.	3.97|.	4.99|4.99	0.124|0.124	0.14714|0.14714	.|.	0.295098|.	0.36815|.	N|.	0.002400|.	T|T	0.45558|0.45558	0.1348|0.1348	L|L	0.44542|0.44542	1.39|1.39	0.34705|0.34705	D|D	0.727165|0.727165	B|.	0.24576|.	0.106|.	B|.	0.34385|.	0.181|.	T|T	0.52866|0.52866	-0.8518|-0.8518	10|5	0.42905|.	T|.	0.14|.	.|.	5.9611|5.9611	0.19301|0.19301	0.2132:0.0:0.5196:0.2672|0.2132:0.0:0.5196:0.2672	.|.	359|.	Q9UIF3|.	TEKT2_HUMAN|.	T|N	359|94	ENSP00000207457:A359T|.	ENSP00000207457:A359T|.	A|S	+|+	1|2	0|0	TEKT2|TEKT2	36325991|36325991	0.122000|0.122000	0.22280|0.22280	0.936000|0.936000	0.37596|0.37596	0.805000|0.805000	0.45488|0.45488	0.112000|0.112000	0.15479|0.15479	0.726000|0.726000	0.32339|0.32339	0.563000|0.563000	0.77884|0.77884	GCA|AGC		0.632	TEKT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020200.1	NM_014466		4	31	0	0	0	1	0	4	31				
LRP5	4041	broad.mit.edu	37	11	68216515	68216515	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr11:68216515T>C	ENST00000294304.7	+	23	4931	c.4825T>C	c.(4825-4827)Tcc>Ccc	p.S1609P	LRP5_ENST00000529481.1_3'UTR	NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	1609	Pro-rich.				adipose tissue development (GO:0060612)|anatomical structure regression (GO:0060033)|anterior/posterior pattern specification (GO:0009952)|apoptotic process involved in patterning of blood vessels (GO:1902262)|bone marrow development (GO:0048539)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in gastrulation (GO:0042074)|cell-cell signaling involved in mammary gland development (GO:0060764)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocytosis (GO:0006897)|extracellular matrix-cell signaling (GO:0035426)|gastrulation with mouth forming second (GO:0001702)|glucose catabolic process (GO:0006007)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|osteoblast development (GO:0002076)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mitosis (GO:0045840)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of bone remodeling (GO:0046850)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to peptide hormone (GO:0043434)|retina morphogenesis in camera-type eye (GO:0060042)|retinal blood vessel morphogenesis (GO:0061304)|somatic stem cell maintenance (GO:0035019)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GCCCCCTCCGTCCCCCTGCAC	0.582																																						ENST00000294304.7																			0				autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(4825-4827)Tcc>Ccc		low density lipoprotein receptor-related protein 5							33.0	36.0	35.0					11																	68216515		2200	4292	6492	SO:0001583	missense	4041				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity	g.chr11:68216515T>C	AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337		"""Low density lipoprotein receptors"""	6697	protein-coding gene	gene with protein product		603506	"""osteoporosis pseudoglioma syndrome"", ""exudative vitreoretinopathy 1"""	LRP7, OPPG, EVR1		9714764, 10049586	Standard	XM_005273994		Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.4825T>C	11.37:g.68216515T>C	ENSP00000294304:p.Ser1609Pro					LRP5_ENST00000529481.1_3'UTR	p.S1609P	NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN			23	4931	+			1609			Pro-rich.		Q96TD6|Q9UES7|Q9UP66	Missense_Mutation	SNP	ENST00000294304.7	37	c.4825T>C	CCDS8181.1	.	.	.	.	.	.	.	.	.	.	T	16.07	3.019969	0.54576	.	.	ENSG00000162337	ENST00000294304	D	0.96830	-4.14	4.53	4.53	0.55603	.	0.000000	0.46145	U	0.000317	D	0.97791	0.9275	M	0.78637	2.42	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.87578	0.998;0.998	D	0.98611	1.0663	10	0.87932	D	0	.	14.0922	0.64998	0.0:0.0:0.0:1.0	.	1609;1609	Q9UES7;O75197	.;LRP5_HUMAN	P	1609	ENSP00000294304:S1609P	ENSP00000294304:S1609P	S	+	1	0	LRP5	67973091	1.000000	0.71417	0.932000	0.37286	0.021000	0.10359	7.395000	0.79876	1.919000	0.55581	0.454000	0.30748	TCC		0.582	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395088.1	NM_002335		3	129	0	0	0	1	0	3	129				
SEMA3D	223117	broad.mit.edu	37	7	84628811	84628811	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr7:84628811C>T	ENST00000284136.6	-	17	2322	c.2279G>A	c.(2278-2280)cGa>cAa	p.R760Q	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	760	Arg/Lys-rich (basic).				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|membrane (GO:0016020)	receptor activity (GO:0004872)	p.R760Q(1)		NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						TCTTCGATTTCGTTTCTTCTT	0.453																																					Ovarian(63;442 1191 17318 29975 31528)	ENST00000284136.6																			1	Substitution - Missense(1)	p.R760Q(1)	large_intestine(1)	NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						c.(2278-2280)cGa>cAa		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D							180.0	146.0	158.0					7																	84628811		2203	4300	6503	SO:0001583	missense	223117				cell differentiation|nervous system development	extracellular region|membrane	receptor activity	g.chr7:84628811C>T	BC029590	CCDS34676.1	7q21.11	2013-01-11			ENSG00000153993	ENSG00000153993		"""Semaphorins"", ""Immunoglobulin superfamily / V-set domain containing"""	10726	protein-coding gene	gene with protein product		609907					Standard	NM_152754		Approved	coll-2, Sema-Z2	uc003uic.3	O95025	OTTHUMG00000154569	ENST00000284136.6:c.2279G>A	7.37:g.84628811C>T	ENSP00000284136:p.Arg760Gln					SEMA3D_ENST00000484038.1_5'UTR	p.R760Q	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN			17	2322	-			760			Arg/Lys-rich (basic).		A6NK46|Q6UW77|Q8NCQ1	Missense_Mutation	SNP	ENST00000284136.6	37	c.2279G>A	CCDS34676.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.155987	0.78114	.	.	ENSG00000153993	ENST00000284136	T	0.36699	1.24	5.93	5.93	0.95920	.	0.114181	0.56097	D	0.000021	T	0.63070	0.2480	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.62581	-0.6824	10	0.66056	D	0.02	.	20.3409	0.98764	0.0:1.0:0.0:0.0	.	760	O95025	SEM3D_HUMAN	Q	760	ENSP00000284136:R760Q	ENSP00000284136:R760Q	R	-	2	0	SEMA3D	84466747	1.000000	0.71417	0.980000	0.43619	0.271000	0.26615	7.224000	0.78042	2.814000	0.96858	0.655000	0.94253	CGA		0.453	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336084.2	NM_152754		15	45	0	0	0	1	0	15	45				
CADPS	8618	broad.mit.edu	37	3	62478078	62478078	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr3:62478078G>A	ENST00000383710.4	-	20	3120	c.2771C>T	c.(2770-2772)aCg>aTg	p.T924M	CADPS_ENST00000283269.9_Missense_Mutation_p.T934M|CADPS_ENST00000357948.3_Missense_Mutation_p.T894M	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	924	Interaction with DRD2.				catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)	p.T934M(1)|p.T924M(1)		breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		TGACAGGAACGTCTCCGCATG	0.448																																						ENST00000383710.4																			2	Substitution - Missense(2)	p.T934M(1)|p.T924M(1)	large_intestine(2)	breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92						c.(2770-2772)aCg>aTg		Ca++-dependent secretion activator							329.0	328.0	328.0					3																	62478078		2203	4300	6503	SO:0001583	missense	8618				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	g.chr3:62478078G>A	U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"""Pleckstrin homology (PH) domain containing"""	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.2771C>T	3.37:g.62478078G>A	ENSP00000373215:p.Thr924Met					CADPS_ENST00000357948.3_Missense_Mutation_p.T894M|CADPS_ENST00000283269.9_Missense_Mutation_p.T934M	p.T924M	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)	20	3120	-		Lung SC(41;0.0452)	924			Interaction with DRD2.		A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Missense_Mutation	SNP	ENST00000383710.4	37	c.2771C>T	CCDS46858.1	.	.	.	.	.	.	.	.	.	.	G	14.38	2.519251	0.44866	.	.	ENSG00000163618	ENST00000383709;ENST00000383710;ENST00000357948;ENST00000283269	T;T;T	0.44881	0.92;0.92;0.91	6.17	5.3	0.74995	Calcium-dependent secretion activator (1);	0.211440	0.48286	D	0.000181	T	0.51500	0.1678	L	0.56769	1.78	0.80722	D	1	D;P;D;D	0.61080	0.989;0.468;0.986;0.989	P;B;P;P	0.51016	0.656;0.023;0.616;0.541	T	0.56335	-0.7996	10	0.66056	D	0.02	.	15.6596	0.77174	0.0652:0.0:0.9348:0.0	.	894;934;924;924	Q9ULU8-2;Q9ULU8-3;Q9ULU8;Q9ULU8-4	.;.;CAPS1_HUMAN;.	M	924;924;894;934	ENSP00000373215:T924M;ENSP00000350632:T894M;ENSP00000283269:T934M	ENSP00000283269:T934M	T	-	2	0	CADPS	62453118	1.000000	0.71417	0.988000	0.46212	0.922000	0.55478	3.810000	0.55613	1.636000	0.50526	0.655000	0.94253	ACG		0.448	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5	NM_003716, NM_183393, NM_183394		7	510	0	0	0	1	0	7	510				
UBR5	51366	broad.mit.edu	37	8	103291368	103291368	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr8:103291368G>A	ENST00000520539.1	-	43	6676	c.6070C>T	c.(6070-6072)Cga>Tga	p.R2024*	UBR5_ENST00000521922.1_Nonsense_Mutation_p.R2018*|UBR5_ENST00000220959.4_Nonsense_Mutation_p.R2024*	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2024					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TCTGAACGTCGGAAAAATGGA	0.423																																					Ovarian(131;96 1741 5634 7352 27489)	ENST00000520539.1																			0				NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124						c.(6070-6072)Cga>Tga		ubiquitin protein ligase E3 component n-recognin 5							110.0	110.0	110.0					8																	103291368		2203	4300	6503	SO:0001587	stop_gained	51366				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	g.chr8:103291368G>A	AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.6070C>T	8.37:g.103291368G>A	ENSP00000429084:p.Arg2024*					UBR5_ENST00000521922.1_Nonsense_Mutation_p.R2018*|UBR5_ENST00000220959.4_Nonsense_Mutation_p.R2024*	p.R2024*	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		43	6676	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		2024					B2RP24|J3KMW7|O94970|Q9NPL3	Nonsense_Mutation	SNP	ENST00000520539.1	37	c.6070C>T	CCDS34933.1	.	.	.	.	.	.	.	.	.	.	G	51	17.345442	0.99884	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922	.	.	.	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.1994	0.82060	0.0:0.0:0.8592:0.1408	.	.	.	.	X	2024;2024;2018	.	ENSP00000220959:R2024X	R	-	1	2	UBR5	103360544	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.122000	0.71608	2.941000	0.99782	0.655000	0.94253	CGA		0.423	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		10	107	0	0	0	1	0	10	107				
ABI3BP	25890	broad.mit.edu	37	3	100497211	100497211	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr3:100497211C>T	ENST00000284322.5	-	26	2226	c.2117G>A	c.(2116-2118)cGc>cAc	p.R706H	ABI3BP_ENST00000471714.1_Missense_Mutation_p.R1408H|ABI3BP_ENST00000383691.4_Missense_Mutation_p.R660H	NM_015429.3	NP_056244.2	Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	706	Pro-rich.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular space (GO:0005615)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						CAAGGGTGGGCGGCGAGTCCC	0.403																																						ENST00000471714.1																			0				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						c.(4222-4224)cGc>cAc		ABI family, member 3 (NESH) binding protein							96.0	96.0	96.0					3																	100497211		1880	4101	5981	SO:0001583	missense	25890					extracellular space		g.chr3:100497211C>T	AB056106	CCDS46880.1	3q12.2	2013-02-11	2008-09-12		ENSG00000154175	ENSG00000154175		"""Fibronectin type III domain containing"""	17265	protein-coding gene	gene with protein product	"""target of Nesh-SH3"""	606279				11501947	Standard	NM_015429		Approved	NESHBP, DKFZP586L2024, TARSH	uc003dun.3	Q7Z7G0	OTTHUMG00000159094	ENST00000284322.5:c.2117G>A	3.37:g.100497211C>T	ENSP00000284322:p.Arg706His					ABI3BP_ENST00000383691.4_Missense_Mutation_p.R660H|ABI3BP_ENST00000284322.5_Missense_Mutation_p.R706H	p.R1408H			Q7Z7G0	TARSH_HUMAN			58	4332	-			706					B3KSL4|Q6ZW20|Q6ZW22|Q9C082|Q9UFI6	Missense_Mutation	SNP	ENST00000284322.5	37	c.4223G>A	CCDS46880.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.25|12.25	1.882324|1.882324	0.33255|0.33255	.|.	.|.	ENSG00000154175|ENSG00000154175	ENST00000495591|ENST00000471714;ENST00000284322;ENST00000383692;ENST00000429331;ENST00000383691;ENST00000486770	.|T;T;T	.|0.23552	.|2.27;1.95;1.9	5.7|5.7	-1.75|-1.75	0.08031|0.08031	.|.	.|0.637241	.|0.16360	.|N	.|0.217809	T|T	0.13415|0.13415	0.0325|0.0325	L|L	0.39633|0.39633	1.23|1.23	0.09310|0.09310	N|N	1|1	.|B;B;P;B	.|0.35174	.|0.037;0.021;0.488;0.058	.|B;B;B;B	.|0.20184	.|0.013;0.003;0.028;0.007	T|T	0.15665|0.15665	-1.0429|-1.0429	5|10	.|0.30078	.|T	.|0.28	0.0363|0.0363	7.2382|7.2382	0.26082|0.26082	0.1091:0.4611:0.0:0.4297|0.1091:0.4611:0.0:0.4297	.|.	.|660;706;1408;415	.|B4DSV9;Q7Z7G0;D3YTG3;D3YTD6	.|.;TARSH_HUMAN;.;.	T|H	762|1408;706;415;117;660;118	.|ENSP00000420524:R1408H;ENSP00000284322:R706H;ENSP00000373189:R660H	.|ENSP00000284322:R706H	A|R	-|-	1|2	0|0	ABI3BP|ABI3BP	101979901|101979901	0.000000|0.000000	0.05858|0.05858	0.548000|0.548000	0.28192|0.28192	0.944000|0.944000	0.59088|0.59088	-0.647000|-0.647000	0.05397|0.05397	-0.217000|-0.217000	0.10033|0.10033	0.462000|0.462000	0.41574|0.41574	GCC|CGC		0.403	ABI3BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353260.1			6	33	0	0	0	1	0	6	33				
KLK14	43847	broad.mit.edu	37	19	51582742	51582742	+	Nonsense_Mutation	SNP	G	G	A	rs373580926		TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr19:51582742G>A	ENST00000156499.2	-	5	696	c.478C>T	c.(478-480)Cga>Tga	p.R160*	KLK14_ENST00000391802.1_Nonsense_Mutation_p.R160*			Q9P0G3	KLK14_HUMAN	kallikrein-related peptidase 14	160	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				epidermis morphogenesis (GO:0048730)|fertilization (GO:0009566)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|proteolysis (GO:0006508)|seminal clot liquefaction (GO:0070684)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase activity (GO:0004252)			kidney(4)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	11		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00422)		CCTGACACTCGGCAGGAGGTC	0.662													g|||	1	0.000199681	0.0008	0.0	5008	,	,		16553	0.0		0.0	False		,,,				2504	0.0				GBM(117;2161 2172 2448 22911)	ENST00000391802.1																			0				kidney(4)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	11						c.(478-480)Cga>Tga		kallikrein-related peptidase 14			stop/ARG	3,3895		0,3,1946	32.0	36.0	35.0		478	2.8	0.5	19		35	0,8314		0,0,4157	no	stop-gained	KLK14	NM_022046.4		0,3,6103	AA,AG,GG		0.0,0.077,0.0246		160/268	51582742	3,12209	1949	4157	6106	SO:0001587	stop_gained	43847				epidermis morphogenesis|fertilization|negative regulation of G-protein coupled receptor protein signaling pathway|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis|seminal clot liquefaction	extracellular space	serine-type endopeptidase activity	g.chr19:51582742G>A	AF283670	CCDS12823.2	19q13.3-q13.4	2008-02-05	2006-10-27		ENSG00000129437	ENSG00000129437		"""Kallikreins"""	6362	protein-coding gene	gene with protein product		606135	"""kallikrein 14"""			16800724, 16800723	Standard	XM_006723224		Approved	KLK-L6	uc002pvs.1	Q9P0G3	OTTHUMG00000143721	ENST00000156499.2:c.478C>T	19.37:g.51582742G>A	ENSP00000156499:p.Arg160*					KLK14_ENST00000156499.2_Nonsense_Mutation_p.R160*	p.R160*	NM_022046.4	NP_071329.2	Q9P0G3	KLK14_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00422)	5	696	-		all_neural(266;0.0199)	160			Peptidase S1.		A7UNK5|Q1RMZ2|Q6B089	Nonsense_Mutation	SNP	ENST00000156499.2	37	c.478C>T	CCDS12823.2	.	.	.	.	.	.	.	.	.	.	.	35	5.457605	0.96240	7.7E-4	0.0	ENSG00000129437	ENST00000156499;ENST00000391802	.	.	.	5.04	2.78	0.32641	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	.	11.652	0.51295	0.0:0.0:0.6772:0.3228	.	.	.	.	X	160	.	ENSP00000156499:R160X	R	-	1	2	KLK14	56274554	0.001000	0.12720	0.517000	0.27799	0.540000	0.34992	-0.228000	0.09114	0.480000	0.27534	0.466000	0.42574	CGA		0.662	KLK14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289774.2	NM_022046		4	42	0	0	0	1	0	4	42				
PTPN5	84867	broad.mit.edu	37	11	18763990	18763990	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr11:18763990G>A	ENST00000358540.2	-	7	974	c.544C>T	c.(544-546)Cgc>Tgc	p.R182C	PTPN5_ENST00000396167.2_Missense_Mutation_p.R150C|PTPN5_ENST00000496201.2_5'UTR|PTPN5_ENST00000396168.1_Missense_Mutation_p.R158C|PTPN5_ENST00000396171.4_Missense_Mutation_p.R182C|RP11-1081L13.4_ENST00000527285.1_RNA|PTPN5_ENST00000396170.1_Missense_Mutation_p.R150C|PTPN5_ENST00000477854.1_5'UTR	NM_006906.1	NP_008837.1	P54829	PTN5_HUMAN	protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)	182					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						ACTGACTGGCGCCTGTCCTCA	0.632																																						ENST00000396170.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						c.(448-450)Cgc>Tgc		protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)							47.0	50.0	49.0					11																	18763990		2199	4293	6492	SO:0001583	missense	84867					integral to membrane	phosphotyrosine binding|protein tyrosine phosphatase activity	g.chr11:18763990G>A	BC064807	CCDS7845.1, CCDS41626.1, CCDS60746.1	11p15.1	2011-06-09			ENSG00000110786	ENSG00000110786		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9657	protein-coding gene	gene with protein product		176879				1714595	Standard	NM_001278236		Approved	STEP, PTPSTEP	uc001mpc.4	P54829	OTTHUMG00000134304	ENST00000358540.2:c.544C>T	11.37:g.18763990G>A	ENSP00000351342:p.Arg182Cys					PTPN5_ENST00000396168.1_Missense_Mutation_p.R158C|PTPN5_ENST00000496201.2_5'UTR|PTPN5_ENST00000358540.2_Missense_Mutation_p.R182C|PTPN5_ENST00000396167.2_Missense_Mutation_p.R150C|PTPN5_ENST00000477854.1_5'UTR|PTPN5_ENST00000396171.4_Missense_Mutation_p.R182C	p.R150C	NM_001278236.1	NP_001265165.1	P54829	PTN5_HUMAN			7	1712	-			182					B3KXG7|B7Z386|B7ZAF5|D3DQY7|Q6P1Z2|Q8N2A1|Q8NDP8	Missense_Mutation	SNP	ENST00000358540.2	37	c.448C>T	CCDS7845.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.699138	0.88830	.	.	ENSG00000110786	ENST00000358540;ENST00000396170;ENST00000396171;ENST00000396167;ENST00000396168	T;T;T;T;T	0.05025	3.51;3.68;3.51;3.68;3.54	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	T	0.15565	0.0375	L	0.27053	0.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.02797	-1.1109	10	0.87932	D	0	.	16.3618	0.83270	0.0:0.0:1.0:0.0	.	182;150	P54829;B3KXG7	PTN5_HUMAN;.	C	182;150;182;150;158	ENSP00000351342:R182C;ENSP00000379473:R150C;ENSP00000379474:R182C;ENSP00000379470:R150C;ENSP00000379471:R158C	ENSP00000351342:R182C	R	-	1	0	PTPN5	18720566	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.080000	0.94040	2.290000	0.77057	0.561000	0.74099	CGC		0.632	PTPN5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259196.2	NM_001039970		8	63	0	0	0	1	0	8	63				
SLC4A7	9497	broad.mit.edu	37	3	27472797	27472798	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr3:27472797_27472798delAA	ENST00000295736.5	-	7	1184_1185	c.1114_1115delTT	c.(1114-1116)ttafs	p.L372fs	SLC4A7_ENST00000437179.1_Intron|SLC4A7_ENST00000445684.1_Frame_Shift_Del_p.L368fs|SLC4A7_ENST00000446700.1_Frame_Shift_Del_p.L364fs|SLC4A7_ENST00000440156.1_Frame_Shift_Del_p.L368fs|SLC4A7_ENST00000428386.1_Intron|SLC4A7_ENST00000425128.2_Frame_Shift_Del_p.L364fs|SLC4A7_ENST00000388777.4_5'UTR|SLC4A7_ENST00000454389.1_Frame_Shift_Del_p.L381fs|SLC4A7_ENST00000455077.1_Intron|SLC4A7_ENST00000435667.2_Intron	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	372					auditory receptor cell development (GO:0060117)|bicarbonate transport (GO:0015701)|cochlear nucleus development (GO:0021747)|ion transport (GO:0006811)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal cell programmed cell death (GO:0046666)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38					Sodium bicarbonate(DB01390)	GCCTGGAGTTAAGTCAACATTT	0.455																																						ENST00000295736.5																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						c.(1114-1116)afs		solute carrier family 4, sodium bicarbonate cotransporter, member 7																																				SO:0001589	frameshift_variant	9497					apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr3:27472797_27472798delAA	AB012130	CCDS33721.1, CCDS58819.1, CCDS58820.1	3p24.1	2013-05-22			ENSG00000033867	ENSG00000033867		"""Solute carriers"""	11033	protein-coding gene	gene with protein product		603353		SLC4A6		10198178, 9610397	Standard	NM_003615		Approved	NBC3, SBC2	uc003cdv.4	Q9Y6M7	OTTHUMG00000155679	ENST00000295736.5:c.1114_1115delTT	3.37:g.27472797_27472798delAA	ENSP00000295736:p.Leu372fs					SLC4A7_ENST00000428386.1_Intron|SLC4A7_ENST00000445684.1_Frame_Shift_Del_p.L368fs|SLC4A7_ENST00000437179.1_Intron|SLC4A7_ENST00000446700.1_Frame_Shift_Del_p.L364fs|SLC4A7_ENST00000425128.2_Frame_Shift_Del_p.L364fs|SLC4A7_ENST00000388777.4_5'UTR|SLC4A7_ENST00000454389.1_Frame_Shift_Del_p.L381fs|SLC4A7_ENST00000435667.2_Intron|SLC4A7_ENST00000455077.1_Intron|SLC4A7_ENST00000440156.1_Frame_Shift_Del_p.L368fs	p.L372fs	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN			7	1184_1185	-			372					A6NIA8|B2CI53|B5M449|B5M451|B5M452|B5M453|B6DY52|B6DY53|C9JST9|D3K174|D3K175|O60350|Q6AHZ9|Q9HC88|Q9UIB9	Frame_Shift_Del	DEL	ENST00000295736.5	37	c.1114_1115delTT	CCDS33721.1																																																																																				0.455	SLC4A7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341230.2	NM_003615		20	93						20	93	---	---	---	---
CSRNP1	64651	broad.mit.edu	37	3	39188103	39188105	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr3:39188103_39188105delGAG	ENST00000273153.5	-	2	246_248	c.69_71delCTC	c.(67-72)tcctct>tct	p.23_24SS>S	CSRNP1_ENST00000514182.1_In_Frame_Del_p.23_24SS>S	NM_033027.3	NP_149016.2	Q96S65	CSRN1_HUMAN	cysteine-serine-rich nuclear protein 1	23	Ser-rich.				apoptotic process (GO:0006915)|face morphogenesis (GO:0060325)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)	nucleus (GO:0005634)	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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|skin(3)	24						CCCAGAGGAAGAGGAGGAGGAGG	0.616																																						ENST00000273153.5																			0				central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|skin(3)	24						c.(67-72)tct>tc		cysteine-serine-rich nuclear protein 1																																				SO:0001651	inframe_deletion	64651				apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:39188103_39188105delGAG	AB053121	CCDS2682.1	3p22	2009-04-17	2009-04-17	2009-04-17	ENSG00000144655	ENSG00000144655			14300	protein-coding gene	gene with protein product		606458	"""AXIN1 up-regulated 1"""	AXUD1		11526492, 17726538	Standard	NM_033027		Approved	URAX1, DKFZp566F164, FAM130B, TAIP-3	uc003cjg.3	Q96S65	OTTHUMG00000131293	ENST00000273153.5:c.69_71delCTC	3.37:g.39188112_39188114delGAG	ENSP00000273153:p.Ser26del					CSRNP1_ENST00000514182.1_In_Frame_Del_p.SS25del	p.SS25del	NM_033027.3	NP_149016.2	Q96S65	CSRN1_HUMAN			2	246_248	-			25			Ser-rich.		Q69YY5	In_Frame_Del	DEL	ENST00000273153.5	37	c.69_71delCTC	CCDS2682.1																																																																																				0.616	CSRNP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254061.1	NM_033027		2	4						2	4	---	---	---	---
SLC9A3	6550	broad.mit.edu	37	5	480012	480012	+	Frame_Shift_Del	DEL	T	T	-			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr5:480012delT	ENST00000264938.3	-	10	1595	c.1586delA	c.(1585-1587)gacfs	p.D529fs	SLC9A3_ENST00000514375.1_Frame_Shift_Del_p.D520fs|CTD-2228K2.7_ENST00000606288.1_RNA|CTD-2228K2.7_ENST00000607286.1_RNA|CTD-2228K2.7_ENST00000607005.1_RNA	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	529					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|sodium:proton antiporter activity (GO:0015385)			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			CAGGATCCGGTCTCGAGACTT	0.607																																						ENST00000264938.3																			0				NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37						c.(1585-1587)gcfs		solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3							115.0	109.0	111.0					5																	480012		2203	4300	6503	SO:0001589	frameshift_variant	6550					cell surface|integral to membrane	sodium:hydrogen antiporter activity	g.chr5:480012delT		CCDS3855.1, CCDS64116.1	5p15.3	2013-05-22	2012-03-22		ENSG00000066230	ENSG00000066230		"""Solute carriers"""	11073	protein-coding gene	gene with protein product		182307	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 3"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 3"""	NHE3		8096830	Standard	NM_004174		Approved		uc003jbe.2	P48764	OTTHUMG00000090315	ENST00000264938.3:c.1586delA	5.37:g.480012delT	ENSP00000264938:p.Asp529fs					SLC9A3_ENST00000514375.1_Frame_Shift_Del_p.D520fs|CTD-2228K2.7_ENST00000606288.1_RNA|CTD-2228K2.7_ENST00000607286.1_RNA|CTD-2228K2.7_ENST00000607005.1_RNA	p.D529fs	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)		10	1595	-			529					B7ZKR2|E9PF67|Q3MIW3	Frame_Shift_Del	DEL	ENST00000264938.3	37	c.1586delA	CCDS3855.1																																																																																				0.607	SLC9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206677.2	NM_004174		9	130						9	130	---	---	---	---
ARHGEF5	7984	broad.mit.edu	37	7	144070332	144070332	+	Frame_Shift_Del	DEL	A	A	-			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr7:144070332delA	ENST00000056217.5	+	10	4269	c.4095delA	c.(4093-4095)acafs	p.T1365fs	ARHGEF5_ENST00000471847.2_Frame_Shift_Del_p.T287fs	NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	1365					actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)|myeloid dendritic cell chemotaxis (GO:0002408)|positive regulation of podosome assembly (GO:0071803)|regulation of Rho GTPase activity (GO:0032319)		GTP binding (GO:0005525)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					TGCGACGGACAGAGGAACTAA	0.522																																						ENST00000056217.5																			0				breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(4093-4095)acfs		Rho guanine nucleotide exchange factor (GEF) 5							141.0	129.0	133.0					7																	144070332		2012	4030	6042	SO:0001589	frameshift_variant	7984				intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr7:144070332delA	U02082	CCDS34771.1	7q35	2012-09-20			ENSG00000050327	ENSG00000050327		"""Rho guanine nucleotide exchange factors"""	13209	protein-coding gene	gene with protein product	"""transforming immortalized mammary oncogene"", ""guanine nucleotide regulatory protein TIM"""	600888				8134109, 7656213	Standard	NM_005435		Approved	TIM, TIM1, GEF5, P60	uc003wel.3	Q12774	OTTHUMG00000158004	ENST00000056217.5:c.4095delA	7.37:g.144070332delA	ENSP00000056217:p.Thr1365fs					ARHGEF5_ENST00000471847.2_Frame_Shift_Del_p.T287fs	p.T1365fs	NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN			10	4269	+	Melanoma(164;0.14)		1365					A6NNJ2|Q6ZML7	Frame_Shift_Del	DEL	ENST00000056217.5	37	c.4095delA	CCDS34771.1																																																																																				0.522	ARHGEF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349981.1	NM_005435		18	201						18	201	---	---	---	---
DOCK11	139818	broad.mit.edu	37	X	117707777	117707778	+	Frame_Shift_Ins	INS	-	-	T			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chrX:117707777_117707778insT	ENST00000276202.7	+	12	1248_1249	c.1185_1186insT	c.(1186-1188)tttfs	p.F396fs	DOCK11_ENST00000276204.6_Frame_Shift_Ins_p.F396fs	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	396					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						AGGTTGAGCCCTTTTTTATCAA	0.411																																						ENST00000276204.6																			0				breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						c.(1183-1188)ccttttfs		dedicator of cytokinesis 11																																				SO:0001589	frameshift_variant	139818				blood coagulation	cytosol	GTP binding	g.chrX:117707777_117707778insT	AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"""Pleckstrin homology (PH) domain containing"""	23483	protein-coding gene	gene with protein product	"""zizimin2"""	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.1191dupT	X.37:g.117707783_117707783dupT	ENSP00000276202:p.Phe396fs					DOCK11_ENST00000276202.7_Frame_Shift_Ins_p.PF395fs	p.PF395fs			Q5JSL3	DOC11_HUMAN			12	1259_1260	+			395					A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Frame_Shift_Ins	INS	ENST00000276202.7	37	c.1185_1186insT	CCDS35373.1																																																																																				0.411	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000356002.1	NM_144658		17	90						17	90	---	---	---	---
