#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
QPCT	25797	broad.mit.edu	37	2	37594434	37594434	+	Silent	SNP	G	G	A			TCGA-WB-A820-01A-11D-A35I-08	TCGA-WB-A820-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f618a4dd-f602-4499-ac44-f8bcd60ea8ce	858c3e31-1211-4c37-bb03-991a561f0860	g.chr2:37594434G>A	ENST00000338415.3	+	4	764	c.606G>A	c.(604-606)gaG>gaA	p.E202E	QPCT_ENST00000537448.1_Silent_p.E153E	NM_012413.3	NP_036545.1	Q16769	QPCT_HUMAN	glutaminyl-peptide cyclotransferase	202					cellular protein modification process (GO:0006464)|peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase (GO:0017186)	extracellular vesicular exosome (GO:0070062)	glutaminyl-peptide cyclotransferase activity (GO:0016603)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|stomach(2)	17		Ovarian(717;0.051)|all_hematologic(82;0.21)				ATGGTGAAGAGGCTTTTCTTC	0.458																																						ENST00000338415.3																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|stomach(2)	17						c.(604-606)gaG>gaA		glutaminyl-peptide cyclotransferase							130.0	127.0	128.0					2																	37594434		2203	4300	6503	SO:0001819	synonymous_variant	25797				peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis	extracellular region	acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|zinc ion binding	g.chr2:37594434G>A	X71125	CCDS1790.1	2p22	2008-07-31	2008-07-31		ENSG00000115828	ENSG00000115828	2.3.2.5		9753	protein-coding gene	gene with protein product	"""glutaminyl cyclase"""	607065				7999256	Standard	NM_012413		Approved	QC, GCT	uc002rqg.3	Q16769	OTTHUMG00000100963	ENST00000338415.3:c.606G>A	2.37:g.37594434G>A						QPCT_ENST00000537448.1_Silent_p.E153E	p.E202E	NM_012413.3	NP_036545.1	Q16769	QPCT_HUMAN			4	764	+		Ovarian(717;0.051)|all_hematologic(82;0.21)	202					Q16770|Q3KRG6|Q53TR4	Silent	SNP	ENST00000338415.3	37	c.606G>A	CCDS1790.1																																																																																				0.458	QPCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218572.2			22	73	0	0	0	1	0	22	73				
PVALB	5816	broad.mit.edu	37	22	37211274	37211274	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A820-01A-11D-A35I-08	TCGA-WB-A820-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f618a4dd-f602-4499-ac44-f8bcd60ea8ce	858c3e31-1211-4c37-bb03-991a561f0860	g.chr22:37211274C>T	ENST00000216200.5	-	3	122	c.67G>A	c.(67-69)Gac>Aac	p.D23N	PVALB_ENST00000404171.1_5'UTR|CITF22-24E5.1_ENST00000417792.1_RNA|PVALB_ENST00000417718.2_Missense_Mutation_p.D23N	NM_002854.2	NP_002845.1	P20472	PRVA_HUMAN	parvalbumin	23					cytosolic calcium ion homeostasis (GO:0051480)	axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)			large_intestine(1)|lung(1)|skin(1)	3						TCGAAGGAGTCGGTAGCTGTG	0.507																																						ENST00000216200.5																			0				large_intestine(1)|lung(1)|skin(1)	3						c.(67-69)Gac>Aac		parvalbumin							90.0	79.0	83.0					22																	37211274		2203	4300	6503	SO:0001583	missense	5816						calcium ion binding	g.chr22:37211274C>T		CCDS13933.1	22q13.1	2013-01-10			ENSG00000100362	ENSG00000100362		"""EF-hand domain containing"""	9704	protein-coding gene	gene with protein product		168890				1559707, 10591208	Standard	NM_002854		Approved	D22S749	uc003apx.3	P20472	OTTHUMG00000150547	ENST00000216200.5:c.67G>A	22.37:g.37211274C>T	ENSP00000216200:p.Asp23Asn					PVALB_ENST00000404171.1_5'UTR|PVALB_ENST00000417718.2_Missense_Mutation_p.D23N	p.D23N	NM_002854.2	NP_002845.1	P20472	PRVA_HUMAN			3	122	-			23					B2R4H7|P78378|Q4VB78|Q5R3Q9	Missense_Mutation	SNP	ENST00000216200.5	37	c.67G>A	CCDS13933.1	.	.	.	.	.	.	.	.	.	.	C	18.17	3.565160	0.65651	.	.	ENSG00000100362	ENST00000417718;ENST00000216200;ENST00000443735	T;T;T	0.76968	-1.06;-1.06;-0.79	5.21	5.21	0.72293	.	0.288720	0.37348	N	0.002121	D	0.82342	0.5016	M	0.83603	2.65	0.80722	D	1	P	0.39964	0.697	B	0.41202	0.35	D	0.85331	0.1090	10	0.62326	D	0.03	-17.2005	18.7559	0.91832	0.0:1.0:0.0:0.0	.	23	P20472	PRVA_HUMAN	N	23	ENSP00000400247:D23N;ENSP00000216200:D23N;ENSP00000406977:D23N	ENSP00000216200:D23N	D	-	1	0	PVALB	35541220	1.000000	0.71417	0.795000	0.32087	0.133000	0.20885	7.481000	0.81124	2.438000	0.82558	0.561000	0.74099	GAC		0.507	PVALB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318857.1	NM_002854		11	16	0	0	0	1	0	11	16				
U2AF1	7307	broad.mit.edu	37	21	44521486	44521486	+	Intron	SNP	G	G	A			TCGA-WB-A820-01A-11D-A35I-08	TCGA-WB-A820-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f618a4dd-f602-4499-ac44-f8bcd60ea8ce	858c3e31-1211-4c37-bb03-991a561f0860	g.chr21:44521486G>A	ENST00000291552.4	-	3	225				U2AF1_ENST00000380276.2_Silent_p.D63D|U2AF1_ENST00000398137.1_De_novo_Start_InFrame|U2AF1_ENST00000486519.1_Intron|U2AF1_ENST00000459639.1_Intron	NM_006758.2	NP_006749.1	Q01081	U2AF1_HUMAN	U2 small nuclear RNA auxiliary factor 1						gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126						AGTGTGAGCCGTCAGCCGTCT	0.413			Mis		"""CLL, MDS"""																																	ENST00000398137.1				Dom	yes		21	21q22.3	7307	Mis	U2 small nuclear RNA auxiliary factor 1			L			"""CLL, MDS"""		0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126								U2 small nuclear RNA auxiliary factor 1							275.0	301.0	292.0					21																	44521486		2203	4300	6503	SO:0001627	intron_variant	7307				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	Cajal body|catalytic step 2 spliceosome|nuclear speck	nucleotide binding|RNA binding|zinc ion binding	g.chr21:44521486G>A	BC001177	CCDS13694.1, CCDS33574.1, CCDS42948.1	21q22.3	2014-09-17	2006-04-11		ENSG00000160201	ENSG00000160201		"""RNA binding motif (RRM) containing"""	12453	protein-coding gene	gene with protein product		191317	"""U2(RNU2) small nuclear RNA auxiliary factor binding protein"", ""U2(RNU2) small nuclear RNA auxiliary factor 1"""	U2AFBP		8660980, 7956352	Standard	NM_006758		Approved	U2AF35, RNU2AF1, RN	uc002zdb.1	Q01081	OTTHUMG00000086836	ENST00000291552.4:c.133-857C>T	21.37:g.44521486G>A						U2AF1_ENST00000380276.2_Silent_p.D63D|U2AF1_ENST00000459639.1_Intron|U2AF1_ENST00000291552.4_Intron|U2AF1_ENST00000486519.1_Intron		NM_001025204.1	NP_001020375.1	Q01081	U2AF1_HUMAN			0	272	-								Q701P4|Q71RF1	Translation_Start_Site	SNP	ENST00000291552.4	37		CCDS13694.1																																																																																				0.413	U2AF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000195541.1	NM_006758		4	286	0	0	0	1	0	4	286				
TTN	7273	broad.mit.edu	37	2	179495667	179495667	+	Missense_Mutation	SNP	C	C	A			TCGA-WB-A820-01A-11D-A35I-08	TCGA-WB-A820-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f618a4dd-f602-4499-ac44-f8bcd60ea8ce	858c3e31-1211-4c37-bb03-991a561f0860	g.chr2:179495667C>A	ENST00000591111.1	-	188	39319	c.39095G>T	c.(39094-39096)cGg>cTg	p.R13032L	TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R5800L|TTN_ENST00000589042.1_Missense_Mutation_p.R14673L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R12105L|TTN_ENST00000359218.5_Missense_Mutation_p.R5733L|TTN_ENST00000460472.2_Missense_Mutation_p.R5608L|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13032	Ig-like 86.				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)			TTTAATTTCCCGATCTAGAAA	0.473																																						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.(44017-44019)cGg>cTg		titin							73.0	71.0	72.0					2																	179495667		1906	4121	6027	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179495667C>A	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.39095G>T	2.37:g.179495667C>A	ENSP00000465570:p.Arg13032Leu					TTN_ENST00000460472.2_Missense_Mutation_p.R5608L|TTN_ENST00000342992.6_Missense_Mutation_p.R12105L|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R5800L|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R5733L|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R13032L	p.R14673L	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)		238	44242	-			13032			Ig-like 96.		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.44018G>T		.	.	.	.	.	.	.	.	.	.	C	17.89	3.500091	0.64298	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.39997	1.05;1.05;1.05;1.05	6.17	6.17	0.99709	Immunoglobulin subtype (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.74359	0.3706	M	0.91612	3.225	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.81914	0.995;0.995;0.995;0.995	T	0.78173	-0.2307	9	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	5608;5733;5800;13032	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	L	12105;5608;5800;5733;5608	ENSP00000343764:R12105L;ENSP00000434586:R5608L;ENSP00000340554:R5800L;ENSP00000352154:R5733L	ENSP00000340554:R5800L	R	-	2	0	TTN	179203912	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	7.770000	0.85390	2.941000	0.99782	0.655000	0.94253	CGG		0.473	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		3	28	1	0	0.115264	1	0.115264	3	28				
DPP9	91039	broad.mit.edu	37	19	4704312	4704312	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A820-01A-11D-A35I-08	TCGA-WB-A820-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f618a4dd-f602-4499-ac44-f8bcd60ea8ce	858c3e31-1211-4c37-bb03-991a561f0860	g.chr19:4704312G>A	ENST00000598800.1	-	7	849	c.344C>T	c.(343-345)aCg>aTg	p.T115M	DPP9_ENST00000597849.1_Missense_Mutation_p.T144M|DPP9_ENST00000262960.9_Missense_Mutation_p.T144M|DPP9_ENST00000594671.1_Missense_Mutation_p.T115M			Q86TI2	DPP9_HUMAN	dipeptidyl-peptidase 9	115						cytoplasm (GO:0005737)|membrane (GO:0016020)	aminopeptidase activity (GO:0004177)|identical protein binding (GO:0042802)|serine-type peptidase activity (GO:0008236)			cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		ATGGTGGGGCGTGGCCTGGAA	0.647																																						ENST00000262960.9																			0				cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(430-432)aCg>aTg		dipeptidyl-peptidase 9							52.0	57.0	55.0					19																	4704312		1983	4139	6122	SO:0001583	missense	91039				proteolysis	cytosol|membrane	aminopeptidase activity|serine-type peptidase activity	g.chr19:4704312G>A	AF452102	CCDS45928.1	19p13.3	2014-06-11	2006-01-12		ENSG00000142002	ENSG00000142002			18648	protein-coding gene	gene with protein product		608258	"""dipeptidylpeptidase 9"""				Standard	NM_139159		Approved		uc002mba.3	Q86TI2	OTTHUMG00000182040	ENST00000598800.1:c.344C>T	19.37:g.4704312G>A	ENSP00000469603:p.Thr115Met					DPP9_ENST00000597849.1_Missense_Mutation_p.T144M|DPP9_ENST00000598800.1_Missense_Mutation_p.T115M|DPP9_ENST00000594671.1_Missense_Mutation_p.T115M	p.T144M	NM_139159.4	NP_631898.3	Q86TI2	DPP9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)	6	708	-		Hepatocellular(1079;0.137)	115					O75273|O75868|Q1ZZB8|Q6AI37|Q6UAL0|Q6ZMT2|Q6ZNJ5|Q8N2J7|Q8N3F5|Q8WXD8|Q96NT8|Q9BVR3	Missense_Mutation	SNP	ENST00000598800.1	37	c.431C>T		.	.	.	.	.	.	.	.	.	.	G	20.6	4.014449	0.75161	.	.	ENSG00000142002	ENST00000357909;ENST00000262960	T	0.32988	1.43	4.64	4.64	0.57946	.	0.000000	0.85682	D	0.000000	T	0.44052	0.1275	L	0.47716	1.5	0.80722	D	1	P;D	0.63046	0.607;0.992	B;P	0.58520	0.154;0.84	T	0.21621	-1.0240	10	0.38643	T	0.18	-17.2919	16.6576	0.85232	0.0:0.0:1.0:0.0	.	115;144	Q86TI2;Q1ZZB8	DPP9_HUMAN;.	M	223;144	ENSP00000262960:T144M	ENSP00000262960:T144M	T	-	2	0	DPP9	4655312	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	5.404000	0.66344	2.424000	0.82194	0.561000	0.74099	ACG		0.647	DPP9-026	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000459343.2			28	59	0	0	0	1	0	28	59				
TATDN2	9797	broad.mit.edu	37	3	10318140	10318140	+	Silent	SNP	A	A	G			TCGA-WB-A820-01A-11D-A35I-08	TCGA-WB-A820-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f618a4dd-f602-4499-ac44-f8bcd60ea8ce	858c3e31-1211-4c37-bb03-991a561f0860	g.chr3:10318140A>G	ENST00000287652.4	+	5	2980	c.1929A>G	c.(1927-1929)aaA>aaG	p.K643K	TATDN2_ENST00000496355.1_3'UTR|TATDN2_ENST00000448281.2_Silent_p.K643K|RP11-438J1.1_ENST00000450534.1_3'UTR	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	643					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|DNA catabolic process (GO:0006308)|endoplasmic reticulum unfolded protein response (GO:0030968)	intracellular organelle (GO:0043229)|nucleoplasm (GO:0005654)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						AAATCATGAAAAAGTTTGTGC	0.468																																						ENST00000287652.4																			0				autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						c.(1927-1929)aaA>aaG		TatD DNase domain containing 2							82.0	75.0	78.0					3																	10318140		2203	4300	6503	SO:0001819	synonymous_variant	9797					nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding	g.chr3:10318140A>G	D86972	CCDS33698.1	3p25.3	2010-11-24			ENSG00000157014	ENSG00000157014			28988	protein-coding gene	gene with protein product						9039502	Standard	NM_014760		Approved	KIAA0218	uc003bvf.3	Q93075	OTTHUMG00000155361	ENST00000287652.4:c.1929A>G	3.37:g.10318140A>G						TATDN2_ENST00000448281.2_Silent_p.K643K|TATDN2_ENST00000496355.1_3'UTR|RP11-438J1.1_ENST00000450534.1_3'UTR	p.K643K	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN			5	2980	+			643					Q3MIL9|Q5BKU0	Silent	SNP	ENST00000287652.4	37	c.1929A>G	CCDS33698.1																																																																																				0.468	TATDN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339641.1	XM_376203		4	79	0	0	0	1	0	4	79				
PMFBP1	83449	broad.mit.edu	37	16	72188312	72188312	+	Missense_Mutation	SNP	T	T	C			TCGA-WB-A820-01A-11D-A35I-08	TCGA-WB-A820-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f618a4dd-f602-4499-ac44-f8bcd60ea8ce	858c3e31-1211-4c37-bb03-991a561f0860	g.chr16:72188312T>C	ENST00000237353.10	-	4	473	c.212A>G	c.(211-213)gAa>gGa	p.E71G	PMFBP1_ENST00000537465.1_Missense_Mutation_p.E71G|PMFBP1_ENST00000543746.1_5'UTR|PMFBP1_ENST00000355636.6_5'UTR	NM_031293.2	NP_112583.2	Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	71						cytoplasm (GO:0005737)				NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				GGACCCAAATTCCACCTCTGA	0.433																																						ENST00000537465.1																			0				NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45						c.(211-213)gAa>gGa		polyamine modulated factor 1 binding protein 1							160.0	140.0	147.0					16																	72188312		2198	4300	6498	SO:0001583	missense	83449							g.chr16:72188312T>C	AF239683	CCDS32483.1	16q23.1	2008-08-04			ENSG00000118557	ENSG00000118557			17728	protein-coding gene	gene with protein product						11468771	Standard	NM_031293		Approved		uc002fcd.3	Q8TBY8	OTTHUMG00000167827	ENST00000237353.10:c.212A>G	16.37:g.72188312T>C	ENSP00000237353:p.Glu71Gly					PMFBP1_ENST00000355636.6_5'UTR|PMFBP1_ENST00000237353.10_Missense_Mutation_p.E71G|PMFBP1_ENST00000543746.1_5'UTR	p.E71G			Q8TBY8	PMFBP_HUMAN			4	370	-		Ovarian(137;0.179)	71					B3KVI9|H7BY07|Q8NA09|Q9BY16|Q9H0H4	Missense_Mutation	SNP	ENST00000237353.10	37	c.212A>G	CCDS32483.1	.	.	.	.	.	.	.	.	.	.	T	26.5	4.743627	0.89663	.	.	ENSG00000118557	ENST00000537465;ENST00000237353;ENST00000535461;ENST00000539172	T;T	0.16196	2.36;2.36	6.01	4.91	0.64330	.	0.402385	0.21520	N	0.073236	T	0.11239	0.0274	N	0.14661	0.345	0.25488	N	0.987673	P;P	0.36909	0.573;0.573	B;B	0.36666	0.23;0.23	T	0.12578	-1.0542	10	0.72032	D	0.01	-2.1935	10.3467	0.43909	0.0:0.0:0.1651:0.8349	.	71;71	Q8TBY8-2;G3V1Q7	.;.	G	71	ENSP00000443817:E71G;ENSP00000237353:E71G	ENSP00000237353:E71G	E	-	2	0	PMFBP1	70745813	0.025000	0.19082	0.003000	0.11579	0.796000	0.44982	2.443000	0.44881	1.085000	0.41206	0.528000	0.53228	GAA		0.433	PMFBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396473.2	NM_031293		4	111	0	0	0	1	0	4	111				
BEND5	79656	broad.mit.edu	37	1	49224701	49224701	+	Missense_Mutation	SNP	G	G	A	rs150209705	byFrequency	TCGA-WB-A820-01A-11D-A35I-08	TCGA-WB-A820-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f618a4dd-f602-4499-ac44-f8bcd60ea8ce	858c3e31-1211-4c37-bb03-991a561f0860	g.chr1:49224701G>A	ENST00000371833.3	-	3	702	c.616C>T	c.(616-618)Cgg>Tgg	p.R206W	AGBL4_ENST00000371839.1_Intron|BEND5_ENST00000476096.1_5'UTR|AGBL4_ENST00000371838.1_Intron	NM_024603.2	NP_078879.2	Q7L4P6	BEND5_HUMAN	BEN domain containing 5	206						Golgi apparatus (GO:0005794)				large_intestine(5)|lung(2)|skin(1)	8						CTCCGAGTCCGCTCCAGCTCC	0.587													G|||	2	0.000399361	0.0015	0.0	5008	,	,		21115	0.0		0.0	False		,,,				2504	0.0					ENST00000371833.3																			0				large_intestine(5)|lung(2)|skin(1)	8						c.(616-618)Cgg>Tgg		BEN domain containing 5							98.0	92.0	94.0					1																	49224701		2203	4300	6503	SO:0001583	missense	79656							g.chr1:49224701G>A	BC007932	CCDS552.2	1p33	2012-11-22	2008-10-03	2008-10-03	ENSG00000162373	ENSG00000162373		"""BEN domain containing"""	25668	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 165"""	C1orf165		12477932	Standard	NM_024603		Approved	FLJ11588	uc001crx.4	Q7L4P6	OTTHUMG00000008153	ENST00000371833.3:c.616C>T	1.37:g.49224701G>A	ENSP00000360899:p.Arg206Trp					AGBL4_ENST00000371838.1_Intron|AGBL4_ENST00000371839.1_Intron|BEND5_ENST00000476096.1_5'UTR	p.R206W	NM_024603.2	NP_078879.2	Q7L4P6	BEND5_HUMAN			3	702	-			206					D3DQ27|Q96A62|Q9HAI3	Missense_Mutation	SNP	ENST00000371833.3	37	c.616C>T	CCDS552.2	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	G	19.81	3.896324	0.72639	.	.	ENSG00000162373	ENST00000371833	.	.	.	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.55721	0.1938	L	0.32530	0.975	0.52099	D	0.999947	D	0.89917	1.0	D	0.75020	0.985	T	0.57260	-0.7842	8	.	.	.	-19.1073	12.259	0.54638	0.0:0.0:0.7338:0.2662	.	206	Q7L4P6	BEND5_HUMAN	W	206	.	.	R	-	1	2	BEND5	48997288	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.406000	0.52637	2.699000	0.92147	0.655000	0.94253	CGG		0.587	BEND5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022323.1	NM_024603		4	69	0	0	0	1	0	4	69				
RP9	6100	broad.mit.edu	37	7	33136944	33136944	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A820-01A-11D-A35I-08	TCGA-WB-A820-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f618a4dd-f602-4499-ac44-f8bcd60ea8ce	858c3e31-1211-4c37-bb03-991a561f0860	g.chr7:33136944G>A	ENST00000297157.3	-	4	361	c.344C>T	c.(343-345)aCg>aTg	p.T115M		NM_203288.1	NP_976033.1	Q8TA86	RP9_HUMAN	retinitis pigmentosa 9 (autosomal dominant)	115	PIM1-binding. {ECO:0000250}.				cognition (GO:0050890)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|signal recognition particle receptor complex (GO:0005785)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			large_intestine(3)|lung(3)|urinary_tract(1)	7			GBM - Glioblastoma multiforme(11;0.0403)			TTTGTCACCCGTTCGGTGACC	0.378																																						ENST00000297157.3																			0				large_intestine(3)|lung(3)|urinary_tract(1)	7						c.(343-345)aCg>aTg		retinitis pigmentosa 9 (autosomal dominant)							105.0	99.0	101.0					7																	33136944		2203	4300	6503	SO:0001583	missense	6100				RNA splicing	nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr7:33136944G>A	AX016710	CCDS5440.1	7p14.3	2014-01-28			ENSG00000164610	ENSG00000164610			10288	protein-coding gene	gene with protein product	"""Pim-1 kinase associated protein"""	607331				8513323	Standard	NM_203288		Approved	PAP-1	uc003tdm.3	Q8TA86	OTTHUMG00000152988	ENST00000297157.3:c.344C>T	7.37:g.33136944G>A	ENSP00000297157:p.Thr115Met						p.T115M	NM_203288.1	NP_976033.1	Q8TA86	RP9_HUMAN	GBM - Glioblastoma multiforme(11;0.0403)		4	361	-			115			PIM1-binding (By similarity).			Missense_Mutation	SNP	ENST00000297157.3	37	c.344C>T	CCDS5440.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.004880	0.74932	.	.	ENSG00000164610	ENST00000297157;ENST00000448915	D;T	0.84800	-1.9;-1.04	3.77	3.77	0.43336	Zinc finger, CCHC-type (1);	0.000000	0.85682	D	0.000000	D	0.90130	0.6916	M	0.62723	1.935	0.58432	D	0.999999	D	0.89917	1.0	D	0.64237	0.923	D	0.91800	0.5451	10	0.87932	D	0	-45.3719	16.449	0.83973	0.0:0.0:1.0:0.0	.	115	Q8TA86	RP9_HUMAN	M	115;81	ENSP00000297157:T115M;ENSP00000411577:T81M	ENSP00000297157:T115M	T	-	2	0	RP9	33103469	1.000000	0.71417	0.993000	0.49108	0.790000	0.44656	7.079000	0.76829	2.028000	0.59812	0.400000	0.26472	ACG		0.378	RP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328914.1	NM_203288		23	45	0	0	0	1	0	23	45				
MUC16	94025	broad.mit.edu	37	19	9060544	9060544	+	Missense_Mutation	SNP	G	G	A	rs558927351		TCGA-WB-A820-01A-11D-A35I-08	TCGA-WB-A820-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f618a4dd-f602-4499-ac44-f8bcd60ea8ce	858c3e31-1211-4c37-bb03-991a561f0860	g.chr19:9060544G>A	ENST00000397910.4	-	3	27105	c.26902C>T	c.(26902-26904)Cca>Tca	p.P8968S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8970	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.P8968A(2)|p.P4601A(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTGACCACTGGAGATGTCACT	0.463													g|||	1	0.000199681	0.0008	0.0	5008	,	,		22725	0.0		0.0	False		,,,				2504	0.0					ENST00000397910.4																			3	Substitution - Missense(3)	p.P8968A(2)|p.P4601A(1)	lung(3)	NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(26902-26904)Cca>Tca		mucin 16, cell surface associated							209.0	194.0	199.0					19																	9060544		1978	4169	6147	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9060544G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.26902C>T	19.37:g.9060544G>A	ENSP00000381008:p.Pro8968Ser						p.P8968S	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	27105	-			8970			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.26902C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	5.735	0.320013	0.10845	.	.	ENSG00000181143	ENST00000397910	T	0.62498	0.02	2.62	-1.32	0.09201	.	.	.	.	.	T	0.47967	0.1474	L	0.43923	1.385	.	.	.	B	0.32573	0.376	B	0.32583	0.148	T	0.49925	-0.8887	8	0.87932	D	0	.	4.4305	0.11525	0.168:0.4839:0.3481:0.0	.	8968	B5ME49	.	S	8968	ENSP00000381008:P8968S	ENSP00000381008:P8968S	P	-	1	0	MUC16	8921544	0.000000	0.05858	0.001000	0.08648	0.130000	0.20726	-0.716000	0.04991	-0.160000	0.11002	0.306000	0.20318	CCA		0.463	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		12	110	0	0	0	1	0	12	110				
PRSS27	83886	broad.mit.edu	37	16	2763562	2763562	+	Missense_Mutation	SNP	C	C	T	rs373033323		TCGA-WB-A820-01A-11D-A35I-08	TCGA-WB-A820-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f618a4dd-f602-4499-ac44-f8bcd60ea8ce	858c3e31-1211-4c37-bb03-991a561f0860	g.chr16:2763562C>T	ENST00000302641.3	-	5	700	c.646G>A	c.(646-648)Ggc>Agc	p.G216S	AC092117.1_ENST00000410123.1_RNA	NM_031948.3	NP_114154.1	Q9BQR3	PRS27_HUMAN	protease, serine 27	216	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8						TCCTCGAAGCCGGCGCACAGC	0.582																																						ENST00000302641.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8						c.(646-648)Ggc>Agc		protease, serine 27		C	SER/GLY	1,4395		0,1,2197	249.0	177.0	202.0		646	5.3	1.0	16		202	1,8599		0,1,4299	no	missense	PRSS27	NM_031948.3	56	0,2,6496	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	216/291	2763562	2,12994	2198	4300	6498	SO:0001583	missense	83886				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr16:2763562C>T	AB056161	CCDS10476.1	16p13.3	2010-05-07			ENSG00000172382	ENSG00000172382		"""Serine peptidases / Serine peptidases"""	15475	protein-coding gene	gene with protein product		608018					Standard	NM_031948		Approved	MPN, pancreasin, CAPH2, marapsin	uc002crf.3	Q9BQR3	OTTHUMG00000128929	ENST00000302641.3:c.646G>A	16.37:g.2763562C>T	ENSP00000306390:p.Gly216Ser						p.G216S	NM_031948.3	NP_114154.1	Q9BQR3	PRS27_HUMAN			5	700	-			216			Peptidase S1.			Missense_Mutation	SNP	ENST00000302641.3	37	c.646G>A	CCDS10476.1	.	.	.	.	.	.	.	.	.	.	.	17.79	3.476705	0.63737	2.27E-4	1.16E-4	ENSG00000172382	ENST00000302641;ENST00000543965	D	0.90676	-2.71	5.26	5.26	0.73747	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.120193	0.37715	N	0.001962	D	0.95408	0.8509	M	0.84326	2.69	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.72338	0.977;0.959	D	0.95928	0.8936	10	0.87932	D	0	.	16.3571	0.83239	0.0:1.0:0.0:0.0	.	216;180	Q9BQR3;B3KP25	PRS27_HUMAN;.	S	216;180	ENSP00000306390:G216S	ENSP00000306390:G216S	G	-	1	0	PRSS27	2703563	0.998000	0.40836	0.994000	0.49952	0.036000	0.12997	4.857000	0.62939	2.460000	0.83146	0.442000	0.29010	GGC		0.582	PRSS27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250908.1	NM_031948		5	119	0	0	0	1	0	5	119				
KLC4	89953	broad.mit.edu	37	6	43034200	43034200	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A820-01A-11D-A35I-08	TCGA-WB-A820-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f618a4dd-f602-4499-ac44-f8bcd60ea8ce	858c3e31-1211-4c37-bb03-991a561f0860	g.chr6:43034200G>A	ENST00000394056.2	+	6	1223	c.728G>A	c.(727-729)cGc>cAc	p.R243H	KLC4_ENST00000347162.5_Missense_Mutation_p.R243H|KLC4_ENST00000394058.1_Missense_Mutation_p.R243H|KLC4_ENST00000259708.3_Missense_Mutation_p.R261H|KLC4_ENST00000458460.2_Missense_Mutation_p.R243H|KLC4_ENST00000453940.2_Missense_Mutation_p.R166H|KLC4_ENST00000479388.1_Missense_Mutation_p.R243H			Q9NSK0	KLC4_HUMAN	kinesin light chain 4	243						cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)			endometrium(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(4)	23			all cancers(41;0.00169)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0376)|KIRC - Kidney renal clear cell carcinoma(2;0.0453)			GACCTGGAGCGCACATCAGGC	0.597																																						ENST00000394056.2																			0				endometrium(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(4)	23						c.(727-729)cGc>cAc		kinesin light chain 4							147.0	109.0	122.0					6																	43034200		2203	4300	6503	SO:0001583	missense	89953					cytoplasm|kinesin complex|microtubule	microtubule motor activity|protein binding	g.chr6:43034200G>A	AK055293	CCDS4882.1, CCDS4883.1, CCDS47429.1, CCDS75459.1	6p21.1	2013-01-10	2005-09-13	2005-09-13	ENSG00000137171	ENSG00000137171		"""Tetratricopeptide (TTC) repeat domain containing"""	21624	protein-coding gene	gene with protein product			"""kinesin-like 8"""	KNSL8			Standard	NM_001289034		Approved	bA387M24.3	uc003otw.1	Q9NSK0	OTTHUMG00000014720	ENST00000394056.2:c.728G>A	6.37:g.43034200G>A	ENSP00000377620:p.Arg243His					KLC4_ENST00000458460.2_Missense_Mutation_p.R243H|KLC4_ENST00000453940.2_Missense_Mutation_p.R166H|KLC4_ENST00000479388.1_Missense_Mutation_p.R243H|KLC4_ENST00000394058.1_Missense_Mutation_p.R243H|KLC4_ENST00000347162.5_Missense_Mutation_p.R243H|KLC4_ENST00000259708.3_Missense_Mutation_p.R261H	p.R243H			Q9NSK0	KLC4_HUMAN	all cancers(41;0.00169)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0376)|KIRC - Kidney renal clear cell carcinoma(2;0.0453)		6	1223	+			243					B3KNY4|B3KPI3|B3KSQ3|B4DME9|Q66K28|Q96EG6	Missense_Mutation	SNP	ENST00000394056.2	37	c.728G>A	CCDS4883.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.500486	0.85176	.	.	ENSG00000137171	ENST00000347162;ENST00000453940;ENST00000479632;ENST00000470728;ENST00000458460;ENST00000259708;ENST00000479388;ENST00000394056;ENST00000394058	T;T;T;T;T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.87	4.47	3.59	0.41128	Tetratricopeptide-like helical (1);Rabaptin, GTPase-Rab5 binding (1);Tetratricopeptide repeat-containing (1);	0.122449	0.36101	N	0.002797	T	0.30823	0.0777	L	0.46157	1.445	0.41786	D	0.989846	D;P;D;D	0.65815	0.995;0.954;0.963;0.985	P;P;P;P	0.55713	0.778;0.584;0.515;0.782	T	0.33879	-0.9851	10	0.87932	D	0	-16.5334	3.3713	0.07222	0.2064:0.0:0.5745:0.2191	.	166;261;243;243	B4DME9;Q9NSK0-3;Q9NSK0;Q96EG6	.;.;KLC4_HUMAN;.	H	243;166;156;221;243;261;243;243;243	ENSP00000340221:R243H;ENSP00000395806:R166H;ENSP00000419784:R156H;ENSP00000417652:R221H;ENSP00000410358:R243H;ENSP00000259708:R261H;ENSP00000418031:R243H;ENSP00000377620:R243H;ENSP00000377622:R243H	ENSP00000259708:R261H	R	+	2	0	KLC4	43142178	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.314000	0.78988	1.211000	0.43351	0.650000	0.86243	CGC		0.597	KLC4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040579.2	NM_138343		3	44	0	0	0	1	0	3	44				
PTPN14	5784	broad.mit.edu	37	1	214537876	214537876	+	Missense_Mutation	SNP	G	G	C			TCGA-WB-A820-01A-11D-A35I-08	TCGA-WB-A820-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f618a4dd-f602-4499-ac44-f8bcd60ea8ce	858c3e31-1211-4c37-bb03-991a561f0860	g.chr1:214537876G>C	ENST00000366956.5	-	18	3608	c.3414C>G	c.(3412-3414)atC>atG	p.I1138M	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	1138	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				lymphangiogenesis (GO:0001946)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of protein export from nucleus (GO:0046825)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		CCAAGCAGTAGATCATCAGCT	0.567																																					Colon(92;557 1424 24372 34121 40073)	ENST00000366956.5																			0				NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(3412-3414)atC>atG		protein tyrosine phosphatase, non-receptor type 14							114.0	107.0	109.0					1																	214537876		2203	4300	6503	SO:0001583	missense	5784				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding	g.chr1:214537876G>C	X82676	CCDS1514.1	1q32.2	2011-06-09			ENSG00000152104	ENSG00000152104		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9647	protein-coding gene	gene with protein product		603155				7733990	Standard	NM_005401		Approved	PEZ	uc001hkk.2	Q15678	OTTHUMG00000037039	ENST00000366956.5:c.3414C>G	1.37:g.214537876G>C	ENSP00000355923:p.Ile1138Met					PTPN14_ENST00000543945.1_3'UTR	p.I1138M	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)	18	3608	-			1138			Tyrosine-protein phosphatase.		Q5VSI0	Missense_Mutation	SNP	ENST00000366956.5	37	c.3414C>G	CCDS1514.1	.	.	.	.	.	.	.	.	.	.	G	17.26	3.343312	0.61073	.	.	ENSG00000152104	ENST00000366956	D	0.83992	-1.79	5.5	3.46	0.39613	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.051393	0.85682	D	0.000000	T	0.80428	0.4621	L	0.35487	1.065	0.80722	D	1	P	0.38711	0.643	P	0.57776	0.827	T	0.75039	-0.3458	10	0.21014	T	0.42	.	2.4223	0.04451	0.2467:0.0:0.4607:0.2926	.	1138	Q15678	PTN14_HUMAN	M	1138	ENSP00000355923:I1138M	ENSP00000355923:I1138M	I	-	3	3	PTPN14	212604499	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.062000	0.41413	2.581000	0.87130	0.655000	0.94253	ATC		0.567	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089918.2	NM_005401		10	46	0	0	0	1	0	10	46				
AGAP11	119385	broad.mit.edu	37	10	88769022	88769022	+	RNA	SNP	G	G	A			TCGA-WB-A820-01A-11D-A35I-08	TCGA-WB-A820-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f618a4dd-f602-4499-ac44-f8bcd60ea8ce	858c3e31-1211-4c37-bb03-991a561f0860	g.chr10:88769022G>A	ENST00000444431.1	+	0	3622				RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.10_ENST00000451760.1_RNA|RP11-96C23.14_ENST00000444180.3_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)										CAAAACATGCGTGGGAACTCC	0.552																																						ENST00000444431.1																			0													ankyrin repeat and GTPase domain Arf GTPase activating protein 11							146.0	157.0	153.0					10																	88769022		2203	4300	6503			119385				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:88769022G>A			10q23.2	2013-01-11			ENSG00000151303	ENSG00000151303		"""ADP-ribosylation factor GTPase activating proteins"", ""Ankyrin repeat domain containing"""	29421	protein-coding gene	gene with protein product						11853319	Standard	NM_133447		Approved	KIAA1975	uc001kee.2	Q8TF27	OTTHUMG00000018667		10.37:g.88769022G>A						RP11-96C23.14_ENST00000444180.3_RNA|RP11-96C23.5_ENST00000433214.2_RNA				Q8TF27	AGA11_HUMAN			0	3622	+								B9EIP7|D3DWE4	RNA	SNP	ENST00000444431.1	37																																																																																						0.552	AGAP11-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000049193.1	NM_133447		6	211	0	0	0	1	0	6	211				
SHPRH	257218	broad.mit.edu	37	6	146262866	146262866	+	Missense_Mutation	SNP	G	G	T			TCGA-WB-A820-01A-11D-A35I-08	TCGA-WB-A820-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f618a4dd-f602-4499-ac44-f8bcd60ea8ce	858c3e31-1211-4c37-bb03-991a561f0860	g.chr6:146262866G>T	ENST00000367505.2	-	10	2647	c.2383C>A	c.(2383-2385)Cta>Ata	p.L795I	SHPRH_ENST00000275233.7_Missense_Mutation_p.L795I|SHPRH_ENST00000438092.2_Missense_Mutation_p.L795I|SHPRH_ENST00000367503.3_Missense_Mutation_p.L795I			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	795	Helicase ATP-binding; second part. {ECO:0000255|PROSITE-ProRule:PRU00541}.				DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209)	nucleosome (GO:0000786)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		TGGTTCCGTAGGCGACGCCCA	0.483																																						ENST00000367503.3																			0				breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79						c.(2383-2385)Cta>Ata		SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase							74.0	80.0	78.0					6																	146262866		2026	4190	6216	SO:0001583	missense	257218				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	g.chr6:146262866G>T	AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414		"""RING-type (C3HC4) zinc fingers"""	19336	protein-coding gene	gene with protein product		608048	"""SNF2 histone linker PHD RING helicase"""			12837266	Standard	NM_001042683		Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.2383C>A	6.37:g.146262866G>T	ENSP00000356475:p.Leu795Ile					SHPRH_ENST00000367505.2_Missense_Mutation_p.L795I|SHPRH_ENST00000275233.7_Missense_Mutation_p.L795I|SHPRH_ENST00000438092.2_Missense_Mutation_p.L795I	p.L795I	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)	10	2781	-		Ovarian(120;0.0365)	795			Helicase ATP-binding; second part.		Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Missense_Mutation	SNP	ENST00000367505.2	37	c.2383C>A	CCDS43513.2	.	.	.	.	.	.	.	.	.	.	G	14.30	2.495734	0.44352	.	.	ENSG00000146414	ENST00000367505;ENST00000367503;ENST00000438092;ENST00000275233	D;D;D;D	0.93366	-3.21;-3.21;-3.21;-3.21	5.69	0.988	0.19796	DEAD-like helicase (1);SNF2-related (1);	0.252546	0.31472	N	0.007591	T	0.81941	0.4929	L	0.39467	1.215	0.39738	D	0.971701	P;B;B	0.42296	0.775;0.243;0.204	B;B;B	0.38156	0.266;0.13;0.079	T	0.77905	-0.2413	10	0.48119	T	0.1	-2.2272	8.7633	0.34687	0.8031:0.0:0.1969:0.0	.	684;795;795	Q149N8-2;Q149N8;Q149N8-4	.;SHPRH_HUMAN;.	I	795	ENSP00000356475:L795I;ENSP00000356473:L795I;ENSP00000412797:L795I;ENSP00000275233:L795I	ENSP00000275233:L795I	L	-	1	2	SHPRH	146304559	1.000000	0.71417	0.125000	0.21846	0.780000	0.44128	5.240000	0.65378	0.243000	0.21327	-0.157000	0.13467	CTA		0.483	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042571.2	NM_173082		5	39	1	0	0.014758	1	0.0158512	5	39				
UBC	7316	broad.mit.edu	37	12	125397415	125397415	+	Silent	SNP	G	G	A			TCGA-WB-A820-01A-11D-A35I-08	TCGA-WB-A820-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f618a4dd-f602-4499-ac44-f8bcd60ea8ce	858c3e31-1211-4c37-bb03-991a561f0860	g.chr12:125397415G>A	ENST00000536769.1	-	1	2479	c.903C>T	c.(901-903)ctC>ctT	p.L301L	UBC_ENST00000538617.1_Intron|UBC_ENST00000536661.1_5'Flank|MIR5188_ENST00000583467.1_RNA|UBC_ENST00000546120.1_Silent_p.L225L|UBC_ENST00000339647.5_Silent_p.L301L			P0CG48	UBC_HUMAN	ubiquitin C	301	Ubiquitin-like 4. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protease binding (GO:0002020)			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		TCCCACCTCTGAGACGGAGCA	0.532																																						ENST00000536769.1																			0				breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(901-903)ctC>ctT		ubiquitin C							69.0	61.0	64.0					12																	125397415		2202	4284	6486	SO:0001819	synonymous_variant	7316				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr12:125397415G>A		CCDS9260.1	12q24.3	2008-09-08			ENSG00000150991	ENSG00000150991			12468	protein-coding gene	gene with protein product	"""polyubiquitin-C"""	191340				1315303, 11872750	Standard	NM_021009		Approved		uc001ugs.4	P0CG48		ENST00000536769.1:c.903C>T	12.37:g.125397415G>A						UBC_ENST00000546120.1_Silent_p.L225L|UBC_ENST00000538617.1_Intron|UBC_ENST00000339647.5_Silent_p.L301L	p.L301L			P0CG48	UBC_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)	1	2479	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		301			Ubiquitin-like 4.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000536769.1	37	c.903C>T	CCDS9260.1																																																																																				0.532	UBC-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400177.1	NM_021009		4	121	0	0	0	1	0	4	121				
MAN1B1	11253	broad.mit.edu	37	9	140001177	140001177	+	Silent	SNP	C	C	A			TCGA-WB-A820-01A-11D-A35I-08	TCGA-WB-A820-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f618a4dd-f602-4499-ac44-f8bcd60ea8ce	858c3e31-1211-4c37-bb03-991a561f0860	g.chr9:140001177C>A	ENST00000371589.4	+	10	1555	c.1482C>A	c.(1480-1482)gtC>gtA	p.V494V	MAN1B1_ENST00000540391.1_3'UTR|MAN1B1_ENST00000474902.1_Silent_p.V197V	NM_016219.4	NP_057303.2	Q9UKM7	MA1B1_HUMAN	mannosidase, alpha, class 1B, member 1	494					cellular protein metabolic process (GO:0044267)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum quality control compartment (GO:0044322)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)	14	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)		TCGAGGGTGTCAGAACGCACC	0.627																																						ENST00000371589.4																			0				autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)	14						c.(1480-1482)gtC>gtA		mannosidase, alpha, class 1B, member 1							105.0	85.0	92.0					9																	140001177		2203	4300	6503	SO:0001819	synonymous_variant	11253				oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|endoplasmic reticulum quality control compartment|integral to membrane	alpha-mannosidase activity|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr9:140001177C>A	AF145732	CCDS7029.1	9q34.3	2014-05-27			ENSG00000177239	ENSG00000177239			6823	protein-coding gene	gene with protein product	"""endoplasmic reticulum alpha-mannosidase 1"", ""alpha 1,2-mannosidase"", ""endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase 1"", ""ER alpha 1,2-mannosidase"", ""Man9GlcNAc2-specific processing alpha-mannosidase"""	604346				10409699, 10521544	Standard	NM_016219		Approved	MANA-ER, MRT15	uc004cld.3	Q9UKM7	OTTHUMG00000020978	ENST00000371589.4:c.1482C>A	9.37:g.140001177C>A						MAN1B1_ENST00000540391.1_3'UTR|MAN1B1_ENST00000474902.1_Silent_p.V197V	p.V494V	NM_016219.4	NP_057303.2	Q9UKM7	MA1B1_HUMAN	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)	10	1555	+	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	494					Q5VSG3|Q9BRS9|Q9Y5K7	Silent	SNP	ENST00000371589.4	37	c.1482C>A	CCDS7029.1	.	.	.	.	.	.	.	.	.	.	C	4.997	0.185094	0.09495	.	.	ENSG00000177239	ENST00000535144	.	.	.	4.95	-3.3	0.05003	.	.	.	.	.	T	0.56775	0.2008	.	.	.	0.51482	D	0.99992	.	.	.	.	.	.	T	0.54892	-0.8225	4	.	.	.	.	11.5798	0.50885	0.1523:0.4056:0.4421:0.0	.	.	.	.	K	468	.	.	Q	+	1	0	MAN1B1	139120998	0.889000	0.30405	0.000000	0.03702	0.000000	0.00434	-0.091000	0.11146	-0.794000	0.04468	-1.086000	0.02197	CAG		0.627	MAN1B1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055294.2	NM_016219		3	23	1	0	0.115264	1	0.115264	3	23				
EXTL2	2135	broad.mit.edu	37	1	101339869	101339869	+	Missense_Mutation	SNP	A	A	G			TCGA-WB-A820-01A-11D-A35I-08	TCGA-WB-A820-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f618a4dd-f602-4499-ac44-f8bcd60ea8ce	858c3e31-1211-4c37-bb03-991a561f0860	g.chr1:101339869A>G	ENST00000370114.3	-	5	2058	c.622T>C	c.(622-624)Tac>Cac	p.Y208H	EXTL2_ENST00000535414.1_Missense_Mutation_p.Y195H|EXTL2_ENST00000370113.3_Missense_Mutation_p.Y208H	NM_001033025.2|NM_001261440.1	NP_001028197.1|NP_001248369.1	Q9UBQ6	EXTL2_HUMAN	exostosin-like glycosyltransferase 2	208					heparan sulfate proteoglycan biosynthetic process (GO:0015012)|N-acetylglucosamine metabolic process (GO:0006044)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	alpha-1,4-N-acetylgalactosaminyltransferase activity (GO:0035248)|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0001888)|metal ion binding (GO:0046872)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	14		all_epithelial(167;2.48e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0425)|all cancers(265;0.0628)|COAD - Colon adenocarcinoma(174;0.148)|Colorectal(144;0.167)|Lung(183;0.195)		ACCATAGAGTACTGGTCACCA	0.413																																						ENST00000370114.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	14						c.(622-624)Tac>Cac		exostosin-like glycosyltransferase 2							48.0	47.0	47.0					1																	101339869		2203	4299	6502	SO:0001583	missense	2135				N-acetylglucosamine metabolic process|UDP-N-acetylgalactosamine metabolic process	extracellular region|integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,4-N-acetylgalactosaminyltransferase activity|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr1:101339869A>G	U76189	CCDS775.1, CCDS72831.1	1p21	2013-03-01	2013-03-01		ENSG00000162694	ENSG00000162694	2.4.1.223	"""Exostosin glycosyltransferase family"""	3516	protein-coding gene	gene with protein product	"""alpha-1,4-N-acteylhexosaminyltransferase"""	602411	"""exostoses (multiple)-like 2"""			9450183, 15831490	Standard	NM_001439		Approved		uc001dtk.2	Q9UBQ6	OTTHUMG00000011814	ENST00000370114.3:c.622T>C	1.37:g.101339869A>G	ENSP00000359132:p.Tyr208His					EXTL2_ENST00000370113.3_Missense_Mutation_p.Y208H|EXTL2_ENST00000535414.1_Missense_Mutation_p.Y195H	p.Y208H	NM_001033025.2|NM_001261440.1	NP_001028197.1|NP_001248369.1	Q9UBQ6	EXTL2_HUMAN		Epithelial(280;0.0425)|all cancers(265;0.0628)|COAD - Colon adenocarcinoma(174;0.148)|Colorectal(144;0.167)|Lung(183;0.195)	5	2058	-		all_epithelial(167;2.48e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)	208					B2R795|D3DT60	Missense_Mutation	SNP	ENST00000370114.3	37	c.622T>C	CCDS775.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.326895	0.81690	.	.	ENSG00000162694	ENST00000370114;ENST00000370113;ENST00000535414;ENST00000450240	D;D;D;D	0.90563	-2.69;-2.69;-2.69;-2.69	5.88	5.88	0.94601	EXTL2, alpha-1,4-N-acetylhexosaminyltransferase (1);	0.000000	0.85682	D	0.000000	D	0.95959	0.8684	M	0.90870	3.155	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.96838	0.9616	10	0.87932	D	0	-21.3736	16.2794	0.82664	1.0:0.0:0.0:0.0	.	207;208	Q8N8F1;Q9UBQ6	.;EXTL2_HUMAN	H	208;208;195;216	ENSP00000359132:Y208H;ENSP00000359131:Y208H;ENSP00000444385:Y195H;ENSP00000403363:Y216H	ENSP00000359131:Y208H	Y	-	1	0	EXTL2	101112457	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	8.962000	0.93254	2.251000	0.74343	0.482000	0.46254	TAC		0.413	EXTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032705.1	NM_001439		3	46	0	0	0	1	0	3	46				
NFIC	4782	broad.mit.edu	37	19	3382111	3382111	+	Silent	SNP	G	G	A			TCGA-WB-A820-01A-11D-A35I-08	TCGA-WB-A820-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f618a4dd-f602-4499-ac44-f8bcd60ea8ce	858c3e31-1211-4c37-bb03-991a561f0860	g.chr19:3382111G>A	ENST00000443272.2	+	2	483	c.432G>A	c.(430-432)gaG>gaA	p.E144E	NFIC_ENST00000341919.3_Silent_p.E144E|NFIC_ENST00000586919.1_Silent_p.E135E|NFIC_ENST00000589123.1_Silent_p.E135E|NFIC_ENST00000395111.3_Silent_p.E135E|NFIC_ENST00000590282.1_Silent_p.E144E|NFIC_ENST00000346156.5_Silent_p.E135E	NM_001245002.1	NP_001231931.1	P08651	NFIC_HUMAN	nuclear factor I/C (CCAAT-binding transcription factor)	144					DNA replication (GO:0006260)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleolus (GO:0005730)|nucleus (GO:0005634)	core promoter proximal region DNA binding (GO:0001159)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)		TCCCGCTGGAGAGCACCGACG	0.667																																						ENST00000589123.1																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						c.(403-405)gaG>gaA		nuclear factor I/C (CCAAT-binding transcription factor)							67.0	71.0	70.0					19																	3382111		2203	4299	6502	SO:0001819	synonymous_variant	4782				DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:3382111G>A	X12492	CCDS12107.1, CCDS45914.1, CCDS58640.1, CCDS59330.1, CCDS59331.1	19p13.3	2008-02-05				ENSG00000141905			7786	protein-coding gene	gene with protein product		600729		NFI		3398920, 7590749	Standard	NM_205843		Approved	CTF, NF-I, CTF5	uc010xhi.2	P08651		ENST00000443272.2:c.432G>A	19.37:g.3382111G>A						NFIC_ENST00000443272.2_Silent_p.E144E|NFIC_ENST00000586919.1_Silent_p.E135E|NFIC_ENST00000590282.1_Silent_p.E144E|NFIC_ENST00000346156.5_Silent_p.E135E|NFIC_ENST00000395111.3_Silent_p.E135E|NFIC_ENST00000341919.3_Silent_p.E144E	p.E135E	NM_001245005.1|NM_205843.2	NP_001231934.1|NP_995315.1	P08651	NFIC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)	2	525	+		Hepatocellular(1079;0.137)	144					A8K1H0|B7Z4U5|B7Z9C3|K7EMU1|P08652|Q14932|Q9UPJ3|Q9UPJ9|Q9UPK0|Q9UPK1	Silent	SNP	ENST00000443272.2	37	c.405G>A	CCDS59330.1																																																																																				0.667	NFIC-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452834.1	NM_005597		28	83	0	0	0	1	0	28	83				
H1F0	3005	broad.mit.edu	37	22	38201891	38201891	+	Missense_Mutation	SNP	A	A	G			TCGA-WB-A820-01A-11D-A35I-08	TCGA-WB-A820-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f618a4dd-f602-4499-ac44-f8bcd60ea8ce	858c3e31-1211-4c37-bb03-991a561f0860	g.chr22:38201891A>G	ENST00000340857.2	+	1	778	c.340A>G	c.(340-342)Atc>Gtc	p.I114V	GCAT_ENST00000323205.6_5'Flank|GCAT_ENST00000248924.6_5'Flank	NM_005318.3	NP_005309.1	P07305	H10_HUMAN	H1 histone family, member 0	114					apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|nucleosome assembly (GO:0006334)	actin cytoskeleton (GO:0015629)|Golgi apparatus (GO:0005794)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(1)|kidney(2)|prostate(2)|urinary_tract(1)	7	Melanoma(58;0.045)					CAAGAAGGAAATCAAGAAGGT	0.572																																					NSCLC(191;1872 2984 30230 41544)|Esophageal Squamous(4;11 371 39444 52196)	ENST00000340857.2																			0				cervix(1)|endometrium(1)|kidney(2)|prostate(2)|urinary_tract(1)	7						c.(340-342)Atc>Gtc		H1 histone family, member 0							61.0	66.0	64.0					22																	38201891		2203	4300	6503	SO:0001583	missense	3005				DNA fragmentation involved in apoptotic nuclear change|nucleosome assembly	actin cytoskeleton|Golgi apparatus|nucleoplasm|nucleosome	DNA binding	g.chr22:38201891A>G	X03473	CCDS13956.1	22q13.1	2011-01-27			ENSG00000189060	ENSG00000189060		"""Histones / Replication-independent"""	4714	protein-coding gene	gene with protein product	"""H1.0, H1(0), H1-0"""	142708		H1FV		3084796	Standard	NM_005318		Approved	H10	uc003aty.3	P07305	OTTHUMG00000150659	ENST00000340857.2:c.340A>G	22.37:g.38201891A>G	ENSP00000344504:p.Ile114Val						p.I114V	NM_005318.3	NP_005309.1	P07305	H10_HUMAN			1	778	+	Melanoma(58;0.045)		114					B2R6I0|B4DRD6|Q6FG88|Q8N6R3	Missense_Mutation	SNP	ENST00000340857.2	37	c.340A>G	CCDS13956.1	.	.	.	.	.	.	.	.	.	.	a	5.014	0.188273	0.09547	.	.	ENSG00000189060	ENST00000340857;ENST00000455466	T	0.04194	3.68	5.27	3.1	0.35709	.	0.911165	0.09306	N	0.820192	T	0.01695	0.0054	N	0.01352	-0.895	0.27283	N	0.958057	B	0.02656	0.0	B	0.01281	0.0	T	0.38757	-0.9646	10	0.02654	T	1	.	8.9619	0.35851	0.2274:0.0:0.7726:0.0	.	114	P07305	H10_HUMAN	V	114;97	ENSP00000344504:I114V	ENSP00000344504:I114V	I	+	1	0	H1F0	36531837	0.999000	0.42202	1.000000	0.80357	0.959000	0.62525	2.432000	0.44784	0.721000	0.32231	-0.177000	0.13119	ATC		0.572	H1F0-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319453.1	NM_005318		10	26	0	0	0	1	0	10	26				
THSD7B	80731	broad.mit.edu	37	2	138413157	138413157	+	Silent	SNP	C	C	T			TCGA-WB-A820-01A-11D-A35I-08	TCGA-WB-A820-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f618a4dd-f602-4499-ac44-f8bcd60ea8ce	858c3e31-1211-4c37-bb03-991a561f0860	g.chr2:138413157C>T	ENST00000409968.1	+	22	4210	c.4032C>T	c.(4030-4032)gtC>gtT	p.V1344V	THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Silent_p.V1347V|THSD7B_ENST00000413152.2_Silent_p.V1316V			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	1346	TSP type-1 17. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CTGGACGTGTCGAGGATGCAC	0.537																																						ENST00000409968.1																			0				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134						c.(4030-4032)gtC>gtT		thrombospondin, type I, domain containing 7B							88.0	88.0	88.0					2																	138413157		2113	4228	6341	SO:0001819	synonymous_variant	80731							g.chr2:138413157C>T			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.4032C>T	2.37:g.138413157C>T						THSD7B_ENST00000272643.3_Silent_p.V1347V|THSD7B_ENST00000413152.2_Silent_p.V1316V|THSD7B_ENST00000543459.1_Intron	p.V1344V						BRCA - Breast invasive adenocarcinoma(221;0.19)	22	4210	+									Silent	SNP	ENST00000409968.1	37	c.4032C>T																																																																																					0.537	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		4	6	0	0	0	1	0	4	6				
TRAV9-2	28677	broad.mit.edu	37	14	22409533	22409539	+	RNA	DEL	CTCTCTC	CTCTCTC	-	rs374912343|rs371270332|rs2178778|rs587678559|rs201742006|rs367992314	byFrequency	TCGA-WB-A820-01A-11D-A35I-08	TCGA-WB-A820-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f618a4dd-f602-4499-ac44-f8bcd60ea8ce	858c3e31-1211-4c37-bb03-991a561f0860	g.chr14:22409533_22409539delCTCTCTC	ENST00000390441.2	+	0	102									T cell receptor alpha variable 9-2																		ctctctctctctctctctTTTTTTTTT	0.415																																						ENST00000390441.2																			0																																																			28677							g.chr14:22409533_22409539delCTCTCTC	AE000659		14q11.2	2012-02-07			ENSG00000211793	ENSG00000211793		"""T cell receptors / TRA locus"""	12154	other	T cell receptor gene						8188290	Standard	NG_001332		Approved				OTTHUMG00000170637		14.37:g.22409533_22409539delCTCTCTC														0	102	+									RNA	DEL	ENST00000390441.2	37																																																																																						0.415	TRAV9-2-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000409885.1	NG_001332		5	3						5	3	---	---	---	---
LMAN1L	79748	broad.mit.edu	37	15	75113473	75113474	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-WB-A820-01A-11D-A35I-08	TCGA-WB-A820-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f618a4dd-f602-4499-ac44-f8bcd60ea8ce	858c3e31-1211-4c37-bb03-991a561f0860	g.chr15:75113473_75113474delCT	ENST00000309664.5	+	9	1104_1105	c.965_966delCT	c.(964-966)gctfs	p.A322fs	LMAN1L_ENST00000379709.3_Frame_Shift_Del_p.A310fs|RP11-414J4.2_ENST00000564823.1_RNA	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	322						integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ATCCTGCAGGCTCTGCGGGGTC	0.653																																						ENST00000309664.5																			0				NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(964-966)gfs		lectin, mannose-binding, 1 like																																				SO:0001589	frameshift_variant	79748					ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding	g.chr15:75113473_75113474delCT	AF303398	CCDS10270.1	15q24.1	2005-08-05			ENSG00000140506	ENSG00000140506			6632	protein-coding gene	gene with protein product		609548				11255007	Standard	NM_021819		Approved	ERGL, ERGIC-53L	uc002ayt.1	Q9HAT1	OTTHUMG00000142813	ENST00000309664.5:c.965_966delCT	15.37:g.75113475_75113476delCT	ENSP00000310431:p.Ala322fs					RP11-414J4.2_ENST00000564823.1_RNA|LMAN1L_ENST00000379709.3_Frame_Shift_Del_p.A310fs	p.A322fs	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN			9	1104_1105	+			322					Q6UWN2	Frame_Shift_Del	DEL	ENST00000309664.5	37	c.965_966delCT	CCDS10270.1																																																																																				0.653	LMAN1L-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286397.4			2	4						2	4	---	---	---	---
ABCA17P	650655	broad.mit.edu	37	16	2475097	2475098	+	RNA	DEL	TC	TC	-	rs372790950|rs372517981		TCGA-WB-A820-01A-11D-A35I-08	TCGA-WB-A820-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f618a4dd-f602-4499-ac44-f8bcd60ea8ce	858c3e31-1211-4c37-bb03-991a561f0860	g.chr16:2475097_2475098delTC	ENST00000469908.1	+	0	3047					NR_003574.1				ATP-binding cassette, sub-family A (ABC1), member 17, pseudogene																		GGTAActctgtctctctctctc	0.559																																						ENST00000469908.1																			0																																																			650655							g.chr16:2475097_2475098delTC	DQ266102		16p13.3	2012-03-14	2010-03-12		ENSG00000238098	ENSG00000238098		"""ATP binding cassette transporters / subfamily A"""	32972	pseudogene	pseudogene						16968533	Standard	NR_003574		Approved		uc002cqc.1		OTTHUMG00000154348		16.37:g.2475107_2475108delTC								NR_003574.1						0	3047	+									RNA	DEL	ENST00000469908.1	37																																																																																						0.559	ABCA17P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000334904.1	NR_003574		2	4						2	4	---	---	---	---
