#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
SPATA5	166378	broad.mit.edu	37	4	123844425	123844425	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr4:123844425C>T	ENST00000274008.4	+	1	197	c.128C>T	c.(127-129)tCc>tTc	p.S43F	NUDT6_ENST00000339154.2_5'Flank|SPATA5_ENST00000422835.2_3'UTR|NUDT6_ENST00000304430.5_5'Flank	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	43					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						GCGGCAACCTCCGGGACTCTG	0.582																																						ENST00000274008.3																			0				endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(127-129)tCc>tTc		spermatogenesis associated 5							102.0	111.0	108.0					4																	123844425		2203	4300	6503	SO:0001583	missense	166378				cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity	g.chr4:123844425C>T	AF361489	CCDS3730.1	4q28.1	2010-04-21			ENSG00000145375	ENSG00000145375		"""ATPases / AAA-type"""	18119	protein-coding gene	gene with protein product	"""ATPase family gene 2 homolog (S. cerevisiae)"""	613940				16465403	Standard	NM_145207		Approved	SPAF, AFG2	uc003iez.4	Q8NB90	OTTHUMG00000133074	ENST00000274008.4:c.128C>T	4.37:g.123844425C>T	ENSP00000274008:p.Ser43Phe					SPATA5_ENST00000422835.2_3'UTR	p.S43F	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN			1	197	+			43					C9JT97|Q86XW1|Q8NI20|Q8TDL7	Missense_Mutation	SNP	ENST00000274008.4	37	c.128C>T	CCDS3730.1	.	.	.	.	.	.	.	.	.	.	C	14.38	2.518610	0.44763	.	.	ENSG00000145375	ENST00000274008	D	0.94576	-3.46	3.97	3.97	0.46021	.	0.694656	0.14250	N	0.331532	D	0.89787	0.6816	N	0.19112	0.55	0.09310	N	1	B;P	0.36249	0.089;0.545	B;B	0.38755	0.015;0.281	D	0.84714	0.0736	10	0.72032	D	0.01	-13.2383	11.76	0.51896	0.0:1.0:0.0:0.0	.	43;43	Q8NB90;Q8NB90-3	SPAT5_HUMAN;.	F	43	ENSP00000274008:S43F	ENSP00000274008:S43F	S	+	2	0	SPATA5	124063875	0.007000	0.16637	0.004000	0.12327	0.270000	0.26580	2.863000	0.48396	2.211000	0.71520	0.561000	0.74099	TCC		0.582	SPATA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256714.2	NM_145207		37	147	0	0	0	1	0	37	147				
OVOL1	5017	broad.mit.edu	37	11	65562094	65562094	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr11:65562094G>A	ENST00000335987.3	+	3	756	c.404G>A	c.(403-405)cGc>cAc	p.R135H	RP11-770G2.5_ENST00000531155.1_RNA|OVOL1_ENST00000532448.1_Missense_Mutation_p.R73H	NM_004561.3	NP_004552.2	O14753	OVOL1_HUMAN	ovo-like zinc finger 1	135					cytoskeleton organization (GO:0007010)|epidermal cell differentiation (GO:0009913)|germline cell cycle switching, mitotic to meiotic cell cycle (GO:0051729)|kidney development (GO:0001822)|mesoderm development (GO:0007498)|negative regulation of meiotic cell cycle phase transition (GO:1901994)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	6				READ - Rectum adenocarcinoma(159;0.17)		ATGCTGAACCGCCACATGAAG	0.587																																						ENST00000335987.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	6						c.(403-405)cGc>cAc		ovo-like zinc finger 1							127.0	94.0	105.0					11																	65562094		2201	4297	6498	SO:0001583	missense	5017				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:65562094G>A	BC059408	CCDS8112.1	11q13	2013-10-17	2013-10-17		ENSG00000172818	ENSG00000172818		"""Zinc fingers, C2H2-type"""	8525	protein-coding gene	gene with protein product		602313	"""ovo (Drosophila) homolog-like 1"", ""ovo-like 1(Drosophila)"""			9383297	Standard	NM_004561		Approved	HOVO1	uc001ofp.3	O14753	OTTHUMG00000166600	ENST00000335987.3:c.404G>A	11.37:g.65562094G>A	ENSP00000337862:p.Arg135His					OVOL1_ENST00000532448.1_Missense_Mutation_p.R73H	p.R135H	NM_004561.3	NP_004552.2	O14753	OVOL1_HUMAN		READ - Rectum adenocarcinoma(159;0.17)	3	756	+			135					Q6PCB1	Missense_Mutation	SNP	ENST00000335987.3	37	c.404G>A	CCDS8112.1	.	.	.	.	.	.	.	.	.	.	G	36	5.639352	0.96693	.	.	ENSG00000172818	ENST00000335987;ENST00000532448	T;T	0.26810	1.71;1.71	5.0	5.0	0.66597	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.081121	0.52532	D	0.000075	T	0.44582	0.1300	L	0.47716	1.5	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.27773	-1.0064	10	0.48119	T	0.1	-37.3183	15.7757	0.78214	0.0:0.0:1.0:0.0	.	135	O14753	OVOL1_HUMAN	H	135;73	ENSP00000337862:R135H;ENSP00000434220:R73H	ENSP00000337862:R135H	R	+	2	0	OVOL1	65318670	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	9.780000	0.99024	2.313000	0.78055	0.561000	0.74099	CGC		0.587	OVOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390690.1	NM_004561		19	76	0	0	0	1	0	19	76				
MYO9B	4650	broad.mit.edu	37	19	17320428	17320428	+	Silent	SNP	G	G	A			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr19:17320428G>A	ENST00000594824.1	+	36	5805	c.5658G>A	c.(5656-5658)agG>agA	p.R1886R	MYO9B_ENST00000595618.1_Silent_p.R1886R|CTD-3032J10.3_ENST00000601929.1_RNA|MYO9B_ENST00000397274.2_Silent_p.R1886R			Q13459	MYO9B_HUMAN	myosin IXB	1886	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.|Tail.				actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						AGCAGATGAGGAAATACAAAG	0.567																																						ENST00000595618.1																			0				breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						c.(5656-5658)agG>agA		myosin IXB							58.0	71.0	67.0					19																	17320428		2114	4229	6343	SO:0001819	synonymous_variant	4650				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity	g.chr19:17320428G>A		CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"""Myosins / Myosin superfamily : Class IX"""	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.5658G>A	19.37:g.17320428G>A						MYO9B_ENST00000397274.2_Silent_p.R1886R|MYO9B_ENST00000594824.1_Silent_p.R1886R	p.R1886R	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN			36	5810	+			1886			Rho-GAP.|Tail.		O75314|Q9NUJ2|Q9UHN0	Silent	SNP	ENST00000594824.1	37	c.5658G>A																																																																																					0.567	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000463236.1			3	12	0	0	0	1	0	3	12				
TSHZ3	57616	broad.mit.edu	37	19	31768537	31768537	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr19:31768537G>A	ENST00000240587.4	-	2	2489	c.2162C>T	c.(2161-2163)cCt>cTt	p.P721L		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	721					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					GGCGCTCAAAGGGTTAACAAA	0.587																																						ENST00000240587.4																			0				breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123						c.(2161-2163)cCt>cTt		teashirt zinc finger homeobox 3							66.0	64.0	65.0					19																	31768537		2203	4300	6503	SO:0001583	missense	57616				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:31768537G>A	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.2162C>T	19.37:g.31768537G>A	ENSP00000240587:p.Pro721Leu						p.P721L	NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN			2	2489	-	Esophageal squamous(110;0.226)		721					Q9H0G6|Q9P254	Missense_Mutation	SNP	ENST00000240587.4	37	c.2162C>T	CCDS12421.2	.	.	.	.	.	.	.	.	.	.	G	18.65	3.669338	0.67814	.	.	ENSG00000121297	ENST00000240587	T	0.52983	0.64	5.37	4.34	0.51931	.	0.000000	0.85682	D	0.000000	T	0.67776	0.2929	M	0.76170	2.325	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.72364	-0.4316	10	0.87932	D	0	-15.1028	13.8945	0.63764	0.0734:0.0:0.9266:0.0	.	721	Q63HK5	TSH3_HUMAN	L	721	ENSP00000240587:P721L	ENSP00000240587:P721L	P	-	2	0	TSHZ3	36460377	1.000000	0.71417	0.736000	0.30914	0.879000	0.50718	9.441000	0.97557	1.259000	0.44117	0.655000	0.94253	CCT		0.587	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		17	79	0	0	0	1	0	17	79				
ITGAD	3681	broad.mit.edu	37	16	31435812	31435812	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr16:31435812G>A	ENST00000389202.2	+	29	3335	c.3286G>A	c.(3286-3288)Gag>Aag	p.E1096K		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	1096					activated T cell proliferation (GO:0050798)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)	cell surface (GO:0009986)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						AGAAGAAGACGAGGTCTACAA	0.522																																						ENST00000389202.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						c.(3286-3288)Gag>Aag		integrin, alpha D							118.0	98.0	104.0					16																	31435812		2197	4300	6497	SO:0001583	missense	3681				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr16:31435812G>A	U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886		"""CD molecules"", ""Integrins"""	6146	protein-coding gene	gene with protein product		602453				8666289, 9598326	Standard	NM_005353		Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.3286G>A	16.37:g.31435812G>A	ENSP00000373854:p.Glu1096Lys						p.E1096K	NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN			29	3335	+			1096					Q15575|Q15576	Missense_Mutation	SNP	ENST00000389202.2	37	c.3286G>A	CCDS32438.1	.	.	.	.	.	.	.	.	.	.	G	12.19	1.863135	0.32884	.	.	ENSG00000156886	ENST00000444228;ENST00000389202	T	0.44083	0.93	5.26	4.31	0.51392	.	.	.	.	.	T	0.27798	0.0684	L	0.31420	0.93	0.09310	N	1	B;B	0.27656	0.184;0.184	B;B	0.23716	0.048;0.048	T	0.17653	-1.0362	9	0.11794	T	0.64	.	9.6139	0.39679	0.0965:0.0:0.9035:0.0	.	1112;1096	Q59H14;Q13349	.;ITAD_HUMAN	K	1112;1096	ENSP00000373854:E1096K	ENSP00000373854:E1096K	E	+	1	0	ITGAD	31343313	0.110000	0.22057	0.017000	0.16124	0.007000	0.05969	1.404000	0.34623	1.221000	0.43506	0.563000	0.77884	GAG		0.522	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432836.1	NM_005353		15	64	0	0	0	1	0	15	64				
OTOGL	283310	broad.mit.edu	37	12	80658872	80658872	+	Silent	SNP	C	C	T			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr12:80658872C>T	ENST00000547103.1	+	19	2085	c.2079C>T	c.(2077-2079)tgC>tgT	p.C693C	OTOGL_ENST00000458043.2_Silent_p.C693C			Q3ZCN5	OTOGL_HUMAN	otogelin-like	693					L-arabinose metabolic process (GO:0046373)	extracellular region (GO:0005576)	alpha-L-arabinofuranosidase activity (GO:0046556)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						ATCAGCTATGCCGCCACGATG	0.522																																						ENST00000458043.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						c.(2077-2079)tgC>tgT		otogelin-like							139.0	142.0	141.0					12																	80658872		2063	4233	6296	SO:0001819	synonymous_variant	283310							g.chr12:80658872C>T	AK096852		12q21.31	2011-02-11	2011-02-11	2011-02-11	ENSG00000165899	ENSG00000165899			26901	protein-coding gene	gene with protein product		614925	"""chromosome 12 open reading frame 64"""	C12orf64			Standard	NM_173591		Approved	FLJ90579	uc001szd.3	Q3ZCN5	OTTHUMG00000150509	ENST00000547103.1:c.2079C>T	12.37:g.80658872C>T						OTOGL_ENST00000547103.1_Silent_p.C693C	p.C693C	NM_173591.3	NP_775862.3					19	2085	+								F8W0C3|Q495U8|Q8N8G5|Q8NC28	Silent	SNP	ENST00000547103.1	37	c.2079C>T																																																																																					0.522	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000407438.1	NM_173591		4	104	0	0	0	1	0	4	104				
CHRNB4	1143	broad.mit.edu	37	15	78922193	78922193	+	Missense_Mutation	SNP	C	C	T	rs372392383		TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr15:78922193C>T	ENST00000261751.3	-	5	565	c.454G>A	c.(454-456)Gcc>Acc	p.A152T	CHRNB4_ENST00000412074.2_Intron|CHRNB4_ENST00000560511.1_5'Flank|RP11-335K5.2_ENST00000559120.1_RNA	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	152					action potential (GO:0001508)|behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|regulation of neurotransmitter secretion (GO:0046928)|regulation of smooth muscle contraction (GO:0006940)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22					Dextromethorphan(DB00514)|Galantamine(DB00674)|Levomethadyl Acetate(DB01227)|Nicotine(DB00184)|Pentolinium(DB01090)	ATCTTGCAGGCGCTCTTGTAG	0.577																																						ENST00000261751.3																			0				endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						c.(454-456)Gcc>Acc		cholinergic receptor, nicotinic, beta 4 (neuronal)		C	THR/ALA	1,4391	2.1+/-5.4	0,1,2195	50.0	50.0	50.0		454	4.1	1.0	15		50	0,8586		0,0,4293	no	missense	CHRNB4	NM_000750.3	58	0,1,6488	TT,TC,CC		0.0,0.0228,0.0077	probably-damaging	152/499	78922193	1,12977	2196	4293	6489	SO:0001583	missense	1143				regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr15:78922193C>T	U48861	CCDS10306.1, CCDS58392.1	15q24	2012-02-11	2012-02-07		ENSG00000117971	ENSG00000117971		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1964	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 4 (neuronal)"""	118509	"""cholinergic receptor, nicotinic, beta polypeptide 4"""			2004777	Standard	NM_000750		Approved		uc002bed.1	P30926	OTTHUMG00000143860	ENST00000261751.3:c.454G>A	15.37:g.78922193C>T	ENSP00000261751:p.Ala152Thr					CHRNB4_ENST00000412074.2_Intron	p.A152T	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN			5	565	-			152					A4FTX5|E9PHE8|Q16607|Q4VBA5|Q8WXC8|Q9BQR4	Missense_Mutation	SNP	ENST00000261751.3	37	c.454G>A	CCDS10306.1	.	.	.	.	.	.	.	.	.	.	C	18.75	3.690186	0.68271	2.28E-4	0.0	ENSG00000117971	ENST00000261751	T	0.79141	-1.24	4.97	4.05	0.47172	Neurotransmitter-gated ion-channel ligand-binding (3);	0.057104	0.64402	N	0.000001	T	0.81721	0.4882	L	0.31578	0.945	0.80722	D	1	D	0.89917	1.0	D	0.71656	0.974	T	0.82456	-0.0448	10	0.62326	D	0.03	.	16.4029	0.83649	0.0:0.9284:0.0:0.0716	.	152	P30926	ACHB4_HUMAN	T	152	ENSP00000261751:A152T	ENSP00000261751:A152T	A	-	1	0	CHRNB4	76709248	0.998000	0.40836	0.988000	0.46212	0.948000	0.59901	3.886000	0.56190	0.511000	0.28236	-0.797000	0.03246	GCC		0.577	CHRNB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290108.1			16	52	0	0	0	1	0	16	52				
C2CD2	25966	broad.mit.edu	37	21	43338969	43338969	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr21:43338969C>T	ENST00000380486.3	-	4	834	c.593G>A	c.(592-594)gGg>gAg	p.G198E	C2CD2_ENST00000329623.7_Missense_Mutation_p.G43E	NM_015500.1	NP_056315.1	Q9Y426	CU025_HUMAN	C2 calcium-dependent domain containing 2	198						cytosol (GO:0005829)|extracellular region (GO:0005576)|nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						ACTGACCTCCCCCAGTGCTTT	0.517																																						ENST00000380486.3																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						c.(592-594)gGg>gAg		C2 calcium-dependent domain containing 2							101.0	86.0	91.0					21																	43338969		2203	4300	6503	SO:0001583	missense	25966					cytosol|extracellular region|nucleus		g.chr21:43338969C>T	AB047784	CCDS13677.1, CCDS42933.1	21q22.3	2008-11-24	2007-10-17	2007-10-17	ENSG00000157617	ENSG00000157617			1266	protein-coding gene	gene with protein product	"""TMEM24-like"""		"""chromosome 21 open reading frame 25"""	C21orf25		15289880	Standard	NM_015500		Approved	TMEM24L, DKFZP586F0422, C21orf258	uc002yzw.3	Q9Y426	OTTHUMG00000086779	ENST00000380486.3:c.593G>A	21.37:g.43338969C>T	ENSP00000369853:p.Gly198Glu					C2CD2_ENST00000329623.7_Missense_Mutation_p.G43E	p.G198E	NM_015500.1	NP_056315.1	Q9Y426	CU025_HUMAN			4	834	-			198					Q5R2V7|Q6AHX8|Q9NSE6	Missense_Mutation	SNP	ENST00000380486.3	37	c.593G>A	CCDS42933.1	.	.	.	.	.	.	.	.	.	.	C	3.493	-0.103449	0.06967	.	.	ENSG00000157617	ENST00000329623;ENST00000380486	T;T	0.21031	2.03;2.03	5.21	-0.771	0.11002	.	0.837046	0.10910	N	0.620638	T	0.13415	0.0325	L	0.42245	1.32	0.09310	N	0.99999	B;B	0.17852	0.024;0.024	B;B	0.12837	0.008;0.008	T	0.33650	-0.9860	10	0.39692	T	0.17	-11.3986	0.4331	0.00474	0.192:0.292:0.1683:0.3478	.	43;198	Q6P6D1;Q9Y426	.;CU025_HUMAN	E	43;198	ENSP00000329302:G43E;ENSP00000369853:G198E	ENSP00000329302:G43E	G	-	2	0	C2CD2	42212038	0.003000	0.15002	0.035000	0.18076	0.453000	0.32348	0.029000	0.13666	-0.046000	0.13446	-0.175000	0.13238	GGG		0.517	C2CD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195228.2	NM_015500		4	32	0	0	0	1	0	4	32				
NR1H4	9971	broad.mit.edu	37	12	100904824	100904824	+	Silent	SNP	G	G	A			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr12:100904824G>A	ENST00000551379.1	+	2	406	c.378G>A	c.(376-378)gcG>gcA	p.A126A	NR1H4_ENST00000392986.3_Silent_p.A116A|NR1H4_ENST00000548884.1_Silent_p.A116A|NR1H4_ENST00000188403.7_Silent_p.A126A|NR1H4_ENST00000549996.1_Silent_p.A116A			Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4	126					bile acid metabolic process (GO:0008206)|cellular response to acid chemical (GO:0071229)|cellular response to organonitrogen compound (GO:0071417)|digestive tract development (GO:0048565)|gene expression (GO:0010467)|intracellular bile acid receptor signaling pathway (GO:0038185)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nitrogen catabolite activation of transcription from RNA polymerase II promoter (GO:0001080)|positive regulation of ammonia assimilation cycle (GO:2001250)|positive regulation of glutamate metabolic process (GO:2000213)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of carbohydrate metabolic process (GO:0006109)|regulation of cholesterol metabolic process (GO:0090181)|regulation of urea metabolic process (GO:0034255)|response to glucose (GO:0009749)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)	bile acid binding (GO:0032052)|bile acid receptor activity (GO:0038181)|chenodeoxycholic acid binding (GO:1902122)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|ligand-dependent nuclear receptor binding (GO:0016922)|peptide binding (GO:0042277)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.A116A(2)		NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44					Chenodeoxycholic acid(DB06777)	GCATGGGCGCGTCAGCAGGGA	0.517																																						ENST00000548884.1																			2	Substitution - coding silent(2)	p.A116A(2)	large_intestine(1)|skin(1)	NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44						c.(346-348)gcG>gcA		nuclear receptor subfamily 1, group H, member 4							101.0	105.0	104.0					12																	100904824		2203	4300	6503	SO:0001819	synonymous_variant	9971				bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr12:100904824G>A	U68233	CCDS9078.1, CCDS55873.1, CCDS55874.1, CCDS55875.1, CCDS55876.1	12q23.1	2013-01-16				ENSG00000012504		"""Nuclear hormone receptors"""	7967	protein-coding gene	gene with protein product		603826				7774010, 9223286	Standard	NM_001206977		Approved	FXR, RIP14, HRR1, HRR-1	uc001tht.2	Q96RI1	OTTHUMG00000170359	ENST00000551379.1:c.378G>A	12.37:g.100904824G>A						NR1H4_ENST00000551379.1_Silent_p.A126A|NR1H4_ENST00000188403.7_Silent_p.A126A|NR1H4_ENST00000392986.3_Silent_p.A116A|NR1H4_ENST00000549996.1_Silent_p.A116A	p.A116A	NM_001206977.1|NM_001206979.1|NM_005123.3	NP_001193906.1|NP_001193908.1|NP_005114.1	Q96RI1	NR1H4_HUMAN			4	889	+			126					A1L4K5|B7Z412|B7ZM06|F8VYG8|Q8NFP5|Q8NFP6|Q92943	Silent	SNP	ENST00000551379.1	37	c.348G>A	CCDS55876.1																																																																																				0.517	NR1H4-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409140.1	NM_005123		25	77	0	0	0	1	0	25	77				
ST8SIA5	29906	broad.mit.edu	37	18	44268762	44268762	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr18:44268762C>A	ENST00000315087.7	-	4	1092	c.432G>T	c.(430-432)caG>caT	p.Q144H	ST8SIA5_ENST00000538168.1_Missense_Mutation_p.Q180H|ST8SIA5_ENST00000536490.1_Missense_Mutation_p.Q113H|ST8SIA5_ENST00000590497.1_5'UTR	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	144					carbohydrate metabolic process (GO:0005975)|glycosphingolipid biosynthetic process (GO:0006688)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialyltransferase activity (GO:0008373)			kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						GGAAGATCTCCTGGTTGATGT	0.597																																						ENST00000315087.7																			0				kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						c.(430-432)caG>caT		ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5							189.0	164.0	172.0					18																	44268762		2203	4300	6503	SO:0001583	missense	29906				glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane		g.chr18:44268762C>A	U91641	CCDS11930.1	18q12.3	2013-03-01	2003-01-14	2005-02-07	ENSG00000101638	ENSG00000101638		"""Sialyltransferases"""	17827	protein-coding gene	gene with protein product	"""ST8Sia V"""	607162	"""sialyltransferase 8E (alpha-2, 8-polysialytransferase)"""	SIAT8E		9199191	Standard	XM_005258250		Approved		uc002lcj.1	O15466	OTTHUMG00000132643	ENST00000315087.7:c.432G>T	18.37:g.44268762C>A	ENSP00000321343:p.Gln144His					ST8SIA5_ENST00000538168.1_Missense_Mutation_p.Q180H|ST8SIA5_ENST00000536490.1_Missense_Mutation_p.Q113H|ST8SIA5_ENST00000590497.1_5'UTR	p.Q144H	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN			4	1092	-			144					B7Z1K9|Q6IAW7	Missense_Mutation	SNP	ENST00000315087.7	37	c.432G>T	CCDS11930.1	.	.	.	.	.	.	.	.	.	.	C	16.95	3.262979	0.59431	.	.	ENSG00000101638	ENST00000315087;ENST00000538168;ENST00000536490	T;T;T	0.33216	1.42;1.42;1.42	5.59	3.79	0.43588	.	0.266663	0.37809	N	0.001925	T	0.30070	0.0753	L	0.35341	1.055	0.41929	D	0.990553	P;P;P	0.48764	0.697;0.865;0.915	B;P;P	0.53450	0.264;0.726;0.592	T	0.08126	-1.0737	10	0.45353	T	0.12	.	4.2553	0.10714	0.1562:0.5578:0.0:0.286	.	113;180;144	F5H8D1;B7Z1K9;O15466	.;.;SIA8E_HUMAN	H	144;180;113	ENSP00000321343:Q144H;ENSP00000445492:Q180H;ENSP00000443683:Q113H	ENSP00000321343:Q144H	Q	-	3	2	ST8SIA5	42522760	0.980000	0.34600	1.000000	0.80357	0.995000	0.86356	0.086000	0.14935	0.699000	0.31761	0.561000	0.74099	CAG		0.597	ST8SIA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255892.1	NM_013305		23	52	1	0	7.92952e-12	1	8.2467e-12	23	52				
JAM2	58494	broad.mit.edu	37	21	27071048	27071048	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr21:27071048G>C	ENST00000480456.1	+	5	1004	c.454G>C	c.(454-456)Gag>Cag	p.E152Q	JAM2_ENST00000312957.5_Missense_Mutation_p.E152Q|JAM2_ENST00000400532.1_Missense_Mutation_p.E152Q|JAM2_ENST00000425221.2_Missense_Mutation_p.E116Q	NM_001270407.1|NM_021219.3	NP_001257336.1|NP_067042.1	P57087	JAM2_HUMAN	junctional adhesion molecule 2	152	Ig-like C2-type.				blood coagulation (GO:0007596)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|negative regulation of cell adhesion (GO:0007162)|single organismal cell-cell adhesion (GO:0016337)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1)	19						AACTGTGGTAGAGCTACGATG	0.438																																						ENST00000480456.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1)	19						c.(454-456)Gag>Cag		junctional adhesion molecule 2							89.0	84.0	86.0					21																	27071048		1913	4134	6047	SO:0001583	missense	58494				blood coagulation|cell-cell adhesion|leukocyte migration	integral to plasma membrane|tight junction		g.chr21:27071048G>C	AF255910	CCDS42911.1, CCDS58787.1, CCDS58788.1	21q21.2	2013-01-11			ENSG00000154721	ENSG00000154721		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	14686	protein-coding gene	gene with protein product		606870		C21orf43		10779521, 10945976	Standard	NM_021219		Approved	VE-JAM, JAM-B, JAMB, CD322	uc031rvc.1	P57087	OTTHUMG00000078441	ENST00000480456.1:c.454G>C	21.37:g.27071048G>C	ENSP00000420419:p.Glu152Gln					JAM2_ENST00000400532.1_Missense_Mutation_p.E152Q|JAM2_ENST00000425221.2_Missense_Mutation_p.E116Q|JAM2_ENST00000312957.5_Missense_Mutation_p.E152Q	p.E152Q	NM_001270407.1|NM_021219.3	NP_001257336.1|NP_067042.1	P57087	JAM2_HUMAN			5	1004	+			152			Ig-like C2-type.		B2R6T9|B4DGT9|Q6UXG6|Q6YNC1	Missense_Mutation	SNP	ENST00000480456.1	37	c.454G>C	CCDS42911.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.173214	0.78452	.	.	ENSG00000154721	ENST00000480456;ENST00000400533;ENST00000400532;ENST00000400537;ENST00000312957;ENST00000425221	T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03	4.66	4.66	0.58398	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.162814	0.53938	D	0.000059	T	0.62417	0.2426	L	0.35341	1.055	0.51482	D	0.999922	D;P;P;D;D	0.54397	0.957;0.844;0.926;0.957;0.966	P;P;P;P;P	0.52909	0.621;0.615;0.705;0.71;0.713	T	0.60865	-0.7178	10	0.33141	T	0.24	.	16.4613	0.84055	0.0:0.0:1.0:0.0	.	116;152;152;152;152	B4DGT9;A8MQ45;A8MXS1;A8MTB0;P57087	.;.;.;.;JAM2_HUMAN	Q	152;152;152;152;152;116	ENSP00000420419:E152Q;ENSP00000383376:E152Q;ENSP00000318416:E152Q;ENSP00000392611:E116Q	ENSP00000318416:E152Q	E	+	1	0	JAM2	25992919	1.000000	0.71417	0.950000	0.38849	0.988000	0.76386	3.592000	0.53993	2.410000	0.81850	0.491000	0.48974	GAG		0.438	JAM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171347.1			10	23	0	0	0	1	0	10	23				
QRICH2	84074	broad.mit.edu	37	17	74289637	74289637	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr17:74289637C>T	ENST00000262765.5	-	4	852	c.673G>A	c.(673-675)Ggg>Agg	p.G225R		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	225										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						GGTTCTAACCCACGACGATCT	0.567																																						ENST00000262765.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						c.(673-675)Ggg>Agg		glutamine rich 2							140.0	105.0	117.0					17																	74289637		2203	4300	6503	SO:0001583	missense	84074						protein binding	g.chr17:74289637C>T	AK058102	CCDS32741.1	17q25.1	2009-03-19			ENSG00000129646	ENSG00000129646			25326	protein-coding gene	gene with protein product							Standard	NM_032134		Approved	DKFZP434P0316	uc002jrd.1	Q9H0J4	OTTHUMG00000167578	ENST00000262765.5:c.673G>A	17.37:g.74289637C>T	ENSP00000262765:p.Gly225Arg						p.G225R	NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN			4	852	-			225					A2RRE1|Q96LM3	Missense_Mutation	SNP	ENST00000262765.5	37	c.673G>A	CCDS32741.1	.	.	.	.	.	.	.	.	.	.	C	11.77	1.737927	0.30774	.	.	ENSG00000129646	ENST00000262765;ENST00000301613	T	0.09817	2.94	3.93	2.96	0.34315	.	.	.	.	.	T	0.10937	0.0267	L	0.46157	1.445	0.09310	N	1	B;B	0.32051	0.354;0.185	B;B	0.29716	0.106;0.106	T	0.17623	-1.0363	9	0.72032	D	0.01	-3.2766	9.6377	0.39819	0.0:0.8943:0.0:0.1057	.	225;225	B5MD94;Q9H0J4	.;QRIC2_HUMAN	R	225	ENSP00000262765:G225R	ENSP00000262765:G225R	G	-	1	0	QRICH2	71801232	0.018000	0.18449	0.002000	0.10522	0.014000	0.08584	-0.643000	0.05421	0.988000	0.38734	0.563000	0.77884	GGG		0.567	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395140.1	NM_032134		22	58	0	0	0	1	0	22	58				
SAPCD2	89958	broad.mit.edu	37	9	139960108	139960108	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr9:139960108T>C	ENST00000409687.3	-	3	824	c.697A>G	c.(697-699)Aag>Gag	p.K233E	RP11-229P13.23_ENST00000456356.2_RNA	NM_178448.3	NP_848543.2	Q86UD0	SAPC2_HUMAN	suppressor APC domain containing 2	233						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)											TCCAGCTCCTTCATCTGCTTC	0.607																																						ENST00000409687.3																			0											c.(697-699)Aag>Gag		suppressor APC domain containing 2							113.0	108.0	110.0					9																	139960108		2203	4300	6503	SO:0001583	missense	89958					cytoplasm|nucleus		g.chr9:139960108T>C	BC024299	CCDS7027.2	9q34.3	2012-02-08	2012-02-08	2012-02-08	ENSG00000186193	ENSG00000186193			28055	protein-coding gene	gene with protein product		612057	"""chromosome 9 open reading frame 140"""	C9orf140		12477932	Standard	NM_178448		Approved	p42.3	uc011men.2	Q86UD0	OTTHUMG00000020961	ENST00000409687.3:c.697A>G	9.37:g.139960108T>C	ENSP00000386348:p.Lys233Glu						p.K233E	NM_178448.3	NP_848543.2	Q86UD0	CI140_HUMAN			3	824	-			233						Missense_Mutation	SNP	ENST00000409687.3	37	c.697A>G	CCDS7027.2	.	.	.	.	.	.	.	.	.	.	T	15.49	2.848855	0.51164	.	.	ENSG00000186193	ENST00000409687	D	0.81499	-1.5	4.14	0.0215	0.14129	.	0.138665	0.47093	D	0.000250	T	0.79094	0.4388	M	0.74647	2.275	0.42674	D	0.993523	P	0.34892	0.474	B	0.42738	0.396	T	0.72836	-0.4172	10	0.72032	D	0.01	-15.6994	4.7376	0.12995	0.0:0.1152:0.3654:0.5194	.	233	Q86UD0	CI140_HUMAN	E	233	ENSP00000386348:K233E	ENSP00000386348:K233E	K	-	1	0	C9orf140	139079929	1.000000	0.71417	0.938000	0.37757	0.973000	0.67179	0.890000	0.28295	-0.161000	0.10983	0.459000	0.35465	AAG		0.607	SAPCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055215.2	NM_178448		43	134	0	0	0	1	0	43	134				
ASZ1	136991	broad.mit.edu	37	7	117003786	117003786	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr7:117003786T>A	ENST00000284629.2	-	13	1354	c.1292A>T	c.(1291-1293)gAa>gTa	p.E431V		NM_130768.2	NP_570124.1			ankyrin repeat, SAM and basic leucine zipper domain containing 1											breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)			TGGATCATTTTCCCGTTCATT	0.284																																						ENST00000284629.2																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24						c.(1291-1293)gAa>gTa		ankyrin repeat, SAM and basic leucine zipper domain containing 1							76.0	73.0	74.0					7																	117003786		2202	4298	6500	SO:0001583	missense	136991				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	signal transducer activity	g.chr7:117003786T>A	AF461259	CCDS5772.1	7q31.2	2013-01-10	2005-03-15	2004-07-16	ENSG00000154438	ENSG00000154438		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	1350	protein-coding gene	gene with protein product		605797	"""ankyrin-like 1"""	C7orf7, ANKL1		12040005, 11279520	Standard	NM_130768		Approved	Orf3, GASZ, ALP1, CT1.19	uc003vjb.2	Q8WWH4	OTTHUMG00000064565	ENST00000284629.2:c.1292A>T	7.37:g.117003786T>A	ENSP00000284629:p.Glu431Val						p.E431V	NM_130768.2	NP_570124.1	Q8WWH4	ASZ1_HUMAN	STAD - Stomach adenocarcinoma(10;0.000512)		13	1354	-	Lung NSC(10;0.00156)|all_lung(10;0.00175)		431						Missense_Mutation	SNP	ENST00000284629.2	37	c.1292A>T	CCDS5772.1	.	.	.	.	.	.	.	.	.	.	T	15.23	2.772509	0.49680	.	.	ENSG00000154438	ENST00000284629	T	0.31247	1.5	5.0	5.0	0.66597	.	0.508000	0.20384	N	0.093389	T	0.30070	0.0753	L	0.51422	1.61	0.32256	N	0.570734	P;P	0.37914	0.611;0.611	B;B	0.38106	0.265;0.265	T	0.45977	-0.9224	10	0.52906	T	0.07	-1.8573	11.1256	0.48317	0.0:0.0:0.0:1.0	.	422;431	B7ZM20;Q8WWH4	.;ASZ1_HUMAN	V	431	ENSP00000284629:E431V	ENSP00000284629:E431V	E	-	2	0	ASZ1	116791022	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.518000	0.60510	1.884000	0.54569	0.482000	0.46254	GAA		0.284	ASZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000138907.7	NM_130768		8	22	0	0	0	1	0	8	22				
SNHG14	104472715	broad.mit.edu	37	15	25436411	25436411	+	RNA	SNP	C	C	T			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr15:25436411C>T	ENST00000424208.1	+	0	1006				SNHG14_ENST00000363358.1_RNA|SNHG14_ENST00000414175.1_RNA|SNORD115-11_ENST00000363616.1_RNA|SNHG14_ENST00000456576.1_RNA|SNORD115-12_ENST00000362583.1_RNA	NR_003305.1				small nucleolar RNA host gene 14 (non-protein coding)																		GGAAGACTTGCGTTGGGCCCA	0.637																																						ENST00000424208.1																			0																																																			104472715							g.chr15:25436411C>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.25436411C>T						SNHG14_ENST00000414175.1_RNA		NR_003305.1						0	1006	+									RNA	SNP	ENST00000424208.1	37																																																																																						0.637	SNHG14-002	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000126729.2			7	22	0	0	0	1	0	7	22				
OR4C6	219432	broad.mit.edu	37	11	55433284	55433284	+	Silent	SNP	G	G	A	rs201210743	byFrequency	TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr11:55433284G>A	ENST00000314259.3	+	1	671	c.642G>A	c.(640-642)gcG>gcA	p.A214A		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	214						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						TCTTAATTGCGTCCTACACGG	0.517													g|||	2	0.000399361	0.0	0.0	5008	,	,		18516	0.001		0.001	False		,,,				2504	0.0					ENST00000314259.3																			0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						c.(640-642)gcG>gcA		olfactory receptor, family 4, subfamily C, member 6		G		0,4400		0,0,2200	139.0	123.0	129.0		642	-1.8	0.0	11		129	1,8591	1.2+/-3.3	0,1,4295	no	coding-synonymous	OR4C6	NM_001004704.1		0,1,6495	AA,AG,GG		0.0116,0.0,0.0077		214/310	55433284	1,12991	2200	4296	6496	SO:0001819	synonymous_variant	219432				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55433284G>A	CR593785	CCDS31506.1	11q11	2012-08-09			ENSG00000181903	ENSG00000181903		"""GPCR / Class A : Olfactory receptors"""	14743	protein-coding gene	gene with protein product							Standard	NM_001004704		Approved		uc010rik.2	Q8NH72	OTTHUMG00000166800	ENST00000314259.3:c.642G>A	11.37:g.55433284G>A							p.A214A	NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN			1	671	+			214					B2RP11|Q6IFD2	Silent	SNP	ENST00000314259.3	37	c.642G>A	CCDS31506.1																																																																																				0.517	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391504.1	NM_001004704		30	68	0	0	0	1	0	30	68				
DNAJC6	9829	broad.mit.edu	37	1	65858360	65858360	+	Missense_Mutation	SNP	C	C	T	rs141779215	byFrequency	TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr1:65858360C>T	ENST00000395325.3	+	12	1701	c.1544C>T	c.(1543-1545)gCg>gTg	p.A515V	DNAJC6_ENST00000263441.7_Missense_Mutation_p.A502V|DNAJC6_ENST00000371069.4_Missense_Mutation_p.A572V	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	515	Pro-rich.				cell death (GO:0008219)|clathrin coat disassembly (GO:0072318)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of clathrin-mediated endocytosis (GO:2000369)	cytosol (GO:0005829)|synapse (GO:0045202)	protein tyrosine phosphatase activity (GO:0004725)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						TCTCCGCCAGCGGCTCCTCCC	0.582													C|||	2	0.000399361	0.0015	0.0	5008	,	,		17875	0.0		0.0	False		,,,				2504	0.0					ENST00000395325.3																			0				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						c.(1543-1545)gCg>gTg		DnaJ (Hsp40) homolog, subfamily C, member 6		C	VAL/ALA	2,4404	4.2+/-10.8	0,2,2201	45.0	44.0	44.0		1544	-1.4	0.0	1	dbSNP_134	44	0,8600		0,0,4300	yes	missense	DNAJC6	NM_014787.2	64	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign	515/914	65858360	2,13004	2203	4300	6503	SO:0001583	missense	9829				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding	g.chr1:65858360C>T	AB007942	CCDS30739.1, CCDS58004.1, CCDS58005.1	1p31.3	2011-09-02			ENSG00000116675	ENSG00000116675		"""Heat shock proteins / DNAJ (HSP40)"""	15469	protein-coding gene	gene with protein product	"""auxilin"""	608375				9455484, 11147971	Standard	NM_001256864		Approved	KIAA0473	uc001dce.2	O75061	OTTHUMG00000009066	ENST00000395325.3:c.1544C>T	1.37:g.65858360C>T	ENSP00000378735:p.Ala515Val					DNAJC6_ENST00000263441.7_Missense_Mutation_p.A502V|DNAJC6_ENST00000371069.4_Missense_Mutation_p.A572V	p.A515V	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN			12	1701	+			515			Pro-rich.		B7Z3V8|D3DQ65|D3DQ66|Q32M66|Q4G0K1|Q5T614|Q5T615	Missense_Mutation	SNP	ENST00000395325.3	37	c.1544C>T	CCDS30739.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	4.248	0.044988	0.08196	4.54E-4	0.0	ENSG00000116675	ENST00000263441;ENST00000395325;ENST00000371069	D;D;D	0.93247	-3.18;-3.19;-3.19	5.65	-1.41	0.08941	.	0.732814	0.14089	N	0.342168	T	0.64702	0.2622	N	0.08118	0	0.09310	N	1	B;B;B	0.17667	0.023;0.007;0.007	B;B;B	0.09377	0.004;0.002;0.002	T	0.61515	-0.7047	9	.	.	.	.	5.1838	0.15174	0.0874:0.4371:0.0862:0.3893	.	572;515;502	O75061-2;O75061;D3DQ66	.;AUXI_HUMAN;.	V	502;515;572	ENSP00000263441:A502V;ENSP00000378735:A515V;ENSP00000360108:A572V	.	A	+	2	0	DNAJC6	65630948	0.000000	0.05858	0.001000	0.08648	0.014000	0.08584	0.372000	0.20467	-0.325000	0.08577	-0.797000	0.03246	GCG		0.582	DNAJC6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025134.1			3	36	0	0	0	1	0	3	36				
WIF1	11197	broad.mit.edu	37	12	65445210	65445210	+	Silent	SNP	G	G	C			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr12:65445210G>C	ENST00000286574.4	-	10	1433	c.1059C>G	c.(1057-1059)ggC>ggG	p.G353G		NM_007191.4	NP_009122.2	Q9Y5W5	WIF1_HUMAN	WNT inhibitory factor 1	353					multicellular organismal development (GO:0007275)|positive regulation of fat cell differentiation (GO:0045600)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)				cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		TGAGCTGGGCGCCTGCTGGCC	0.507			T	HMGA2	pleomorphic salivary gland adenoma																																Esophageal Squamous(148;1595 1816 48559 49439 49664)	ENST00000286574.4				Dom	yes		12	12q14.3	11197	T	WNT inhibitory factor 1			E	HMGA2		pleomorphic salivary gland adenoma		0				cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21						c.(1057-1059)ggC>ggG		WNT inhibitory factor 1							59.0	59.0	59.0					12																	65445210		2203	4300	6503	SO:0001819	synonymous_variant	11197				multicellular organismal development|Wnt receptor signaling pathway	extracellular region	protein tyrosine kinase activity	g.chr12:65445210G>C	AF122922	CCDS8971.1	12q14.2	2008-04-11			ENSG00000156076	ENSG00000156076			18081	protein-coding gene	gene with protein product		605186				10201374	Standard	NM_007191		Approved		uc001ssk.3	Q9Y5W5	OTTHUMG00000168832	ENST00000286574.4:c.1059C>G	12.37:g.65445210G>C							p.G353G	NM_007191.4	NP_009122.2	Q9Y5W5	WIF1_HUMAN	LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)	10	1433	-			353					Q6UXI1|Q8WVG4	Silent	SNP	ENST00000286574.4	37	c.1059C>G	CCDS8971.1																																																																																				0.507	WIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401258.2			18	44	0	0	0	1	0	18	44				
MYH9	4627	broad.mit.edu	37	22	36708257	36708257	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr22:36708257G>A	ENST00000216181.5	-	14	1795	c.1565C>T	c.(1564-1566)cCg>cTg	p.P522L		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	522	Myosin motor.				actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						CAGAATGCCCGGGGGGCCTGC	0.642			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																													ENST00000216181.5				Dom	yes		22	22q13.1	4627	T	"""myosin, heavy polypeptide 9, non-muscle"""	yes	"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""	L	ALK		ALCL		0				NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						c.(1564-1566)cCg>cTg		myosin, heavy chain 9, non-muscle							51.0	48.0	49.0					22																	36708257		2203	4300	6503	SO:0001583	missense	4627	Hereditary Macrothrombocytopenia, MYH9-associated	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	g.chr22:36708257G>A		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.1565C>T	22.37:g.36708257G>A	ENSP00000216181:p.Pro522Leu						p.P522L	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN			14	1795	-			522			Myosin head-like.		A8K6E4|O60805|Q60FE2|Q86T83	Missense_Mutation	SNP	ENST00000216181.5	37	c.1565C>T	CCDS13927.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.426497	0.83667	.	.	ENSG00000100345	ENST00000337818;ENST00000216181	T	0.69806	-0.43	4.44	4.44	0.53790	Myosin head, motor domain (3);	0.000000	0.85682	D	0.000000	T	0.69842	0.3156	N	0.16016	0.355	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.76895	-0.2790	10	0.87932	D	0	.	17.0598	0.86544	0.0:0.0:1.0:0.0	.	522	P35579	MYH9_HUMAN	L	386;522	ENSP00000216181:P522L	ENSP00000216181:P522L	P	-	2	0	MYH9	35038203	1.000000	0.71417	0.964000	0.40570	0.717000	0.41224	9.869000	0.99810	2.188000	0.69820	0.462000	0.41574	CCG		0.642	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473		15	47	0	0	0	1	0	15	47				
ZMIZ1	57178	broad.mit.edu	37	10	81056307	81056307	+	Missense_Mutation	SNP	C	C	T	rs138149224		TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr10:81056307C>T	ENST00000334512.5	+	13	1882	c.1310C>T	c.(1309-1311)cCg>cTg	p.P437L	ZMIZ1_ENST00000478357.1_3'UTR	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	437	Pro-rich.				artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CCCAACCCCCCGAGGCCACTC	0.632																																						ENST00000334512.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30						c.(1309-1311)cCg>cTg		zinc finger, MIZ-type containing 1							68.0	79.0	76.0					10																	81056307		2203	4300	6503	SO:0001583	missense	57178				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding	g.chr10:81056307C>T	AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"""Zinc fingers, MIZ-type"""	16493	protein-coding gene	gene with protein product		607159	"""retinoic acid induced 17"""	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.1310C>T	10.37:g.81056307C>T	ENSP00000334474:p.Pro437Leu					ZMIZ1_ENST00000478357.1_3'UTR	p.P437L	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)		13	1882	+	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		437			Pro-rich.		Q5JSH9|Q7Z7E6	Missense_Mutation	SNP	ENST00000334512.5	37	c.1310C>T	CCDS7357.1	.	.	.	.	.	.	.	.	.	.	C	18.31	3.596694	0.66332	.	.	ENSG00000108175	ENST00000334512;ENST00000360331;ENST00000372347	T	0.57752	0.38	4.96	4.96	0.65561	.	0.000000	0.41396	D	0.000894	T	0.43366	0.1244	L	0.39898	1.24	0.80722	D	1	P	0.34462	0.454	B	0.23716	0.048	T	0.40136	-0.9579	10	0.37606	T	0.19	-9.6428	18.2078	0.89860	0.0:1.0:0.0:0.0	.	437	Q9ULJ6	ZMIZ1_HUMAN	L	437;367;344	ENSP00000334474:P437L	ENSP00000334474:P437L	P	+	2	0	ZMIZ1	80726313	1.000000	0.71417	0.940000	0.37924	0.890000	0.51754	7.487000	0.81328	2.294000	0.77228	0.561000	0.74099	CCG		0.632	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048944.2	NM_020338		38	100	0	0	0	1	0	38	100				
CYP8B1	1582	broad.mit.edu	37	3	42916010	42916010	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr3:42916010C>G	ENST00000316161.4	-	1	1623	c.1299G>C	c.(1297-1299)tgG>tgC	p.W433C	KRBOX1_ENST00000426937.1_Intron|RP11-141M3.5_ENST00000471537.1_RNA|CYP8B1_ENST00000437102.1_Missense_Mutation_p.W433C	NM_004391.2	NP_004382.2	Q9UNU6	CP8B1_HUMAN	cytochrome P450, family 8, subfamily B, polypeptide 1	433					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|lipid metabolic process (GO:0006629)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity (GO:0033778)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|sterol 12-alpha-hydroxylase activity (GO:0008397)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)		CGCCCGAACCCCAGGGCATGG	0.522																																						ENST00000316161.4																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23						c.(1297-1299)tgG>tgC		cytochrome P450, family 8, subfamily B, polypeptide 1							110.0	105.0	107.0					3																	42916010		2203	4300	6503	SO:0001583	missense	1582				bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity	g.chr3:42916010C>G	AF090318	CCDS2707.1	3p22.1	2004-02-27	2003-01-14		ENSG00000180432	ENSG00000180432		"""Cytochrome P450s"""	2653	protein-coding gene	gene with protein product		602172	"""cytochrome P450, subfamily VIIIB (sterol 12-alpha-hydroxylase), polypeptide 1"""			10051404	Standard	NM_004391		Approved	CYP12	uc003cmh.3	Q9UNU6	OTTHUMG00000133047	ENST00000316161.4:c.1299G>C	3.37:g.42916010C>G	ENSP00000318867:p.Trp433Cys					CYP8B1_ENST00000437102.1_Missense_Mutation_p.W433C|ACKR2_ENST00000471537.1_Intron|KRBOX1_ENST00000426937.1_Intron	p.W433C	NM_004391.2	NP_004382.2	Q9UNU6	CP8B1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)	1	1623	-			433					B2RCY3|O75958|Q6NWT2|Q6NWT3	Missense_Mutation	SNP	ENST00000316161.4	37	c.1299G>C	CCDS2707.1	.	.	.	.	.	.	.	.	.	.	C	16.99	3.273727	0.59649	.	.	ENSG00000180432	ENST00000437102;ENST00000316161	T;T	0.68181	-0.31;-0.31	5.39	5.39	0.77823	.	0.000000	0.64402	D	0.000006	T	0.82015	0.4945	M	0.79693	2.465	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.84338	0.0525	10	0.87932	D	0	-11.6534	14.2293	0.65879	0.0:0.8495:0.1505:0.0	.	433;433	C9JFR9;Q9UNU6	.;CP8B1_HUMAN	C	433	ENSP00000404499:W433C;ENSP00000318867:W433C	ENSP00000318867:W433C	W	-	3	0	CYP8B1	42891014	1.000000	0.71417	0.996000	0.52242	0.864000	0.49448	5.950000	0.70265	2.526000	0.85167	0.462000	0.41574	TGG		0.522	CYP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256653.1	NM_004391		33	62	0	0	0	1	0	33	62				
MAP3K4	4216	broad.mit.edu	37	6	161519420	161519420	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr6:161519420C>T	ENST00000392142.4	+	17	3783	c.3635C>T	c.(3634-3636)tCt>tTt	p.S1212F	MAP3K4_ENST00000366919.2_Intron|MAP3K4_ENST00000366920.2_Missense_Mutation_p.S1208F|MAP3K4_ENST00000348824.7_Intron	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1212					activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		GGTGGTGACTCTGTGCTGCCC	0.622																																						ENST00000392142.4																			0				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77						c.(3634-3636)tCt>tTt		mitogen-activated protein kinase kinase kinase 4							159.0	131.0	141.0					6																	161519420		2203	4300	6503	SO:0001583	missense	4216				activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	g.chr6:161519420C>T	AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.3635C>T	6.37:g.161519420C>T	ENSP00000375986:p.Ser1212Phe					MAP3K4_ENST00000348824.7_Intron|MAP3K4_ENST00000366919.2_Intron|MAP3K4_ENST00000366920.2_Missense_Mutation_p.S1208F	p.S1212F	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)	17	3783	+		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)	1212					A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Missense_Mutation	SNP	ENST00000392142.4	37	c.3635C>T	CCDS34565.1	.	.	.	.	.	.	.	.	.	.	C	7.342	0.621082	0.14193	.	.	ENSG00000085511	ENST00000392142;ENST00000366920	T;T	0.72615	-0.66;-0.67	5.75	4.87	0.63330	.	0.921533	0.09233	N	0.830243	T	0.45696	0.1355	L	0.27053	0.805	0.80722	D	1	P;B	0.36315	0.547;0.412	B;B	0.37888	0.26;0.259	T	0.31420	-0.9944	10	0.18276	T	0.48	-4.2003	14.7542	0.69552	0.0:0.8432:0.1568:0.0	.	1208;1212	F5H538;Q9Y6R4	.;M3K4_HUMAN	F	1212;1208	ENSP00000375986:S1212F;ENSP00000355887:S1208F	ENSP00000355887:S1208F	S	+	2	0	MAP3K4	161439410	0.477000	0.25909	0.005000	0.12908	0.262000	0.26303	3.277000	0.51654	1.395000	0.46643	0.650000	0.86243	TCT		0.622	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042988.3			43	120	0	0	0	1	0	43	120				
ZNF628	89887	broad.mit.edu	37	19	55995271	55995271	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr19:55995271C>T	ENST00000598519.1	+	3	3264	c.2711C>T	c.(2710-2712)cCg>cTg	p.P904L	NAT14_ENST00000587400.1_5'Flank|ZNF628_ENST00000391718.2_Missense_Mutation_p.P900L|NAT14_ENST00000591590.1_5'Flank|NAT14_ENST00000205194.4_5'Flank			Q5EBL2	ZN628_HUMAN	zinc finger protein 628	904					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(1)|lung(2)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		CTCACTGGCCCGGGCCCCGGG	0.662																																						ENST00000598519.1																			0				endometrium(4)|kidney(1)|lung(2)	7						c.(2710-2712)cCg>cTg		zinc finger protein 628							17.0	19.0	18.0					19																	55995271		2196	4291	6487	SO:0001583	missense	89887					nucleus	DNA binding|zinc ion binding	g.chr19:55995271C>T	AF367249	CCDS33116.3	19q13.43	2013-01-08			ENSG00000197483	ENSG00000197483		"""Zinc fingers, C2H2-type"""	28054	protein-coding gene	gene with protein product	"""Zinc finger expressed in Embryonal cells and Certain adult organs"""	610671					Standard	NM_033113		Approved	ZEC, Zfp628	uc002qld.3	Q5EBL2	OTTHUMG00000150396	ENST00000598519.1:c.2711C>T	19.37:g.55995271C>T	ENSP00000469591:p.Pro904Leu					ZNF628_ENST00000391718.2_Missense_Mutation_p.P900L	p.P904L	NM_033113.2	NP_149104.3	Q5EBL2	ZN628_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)	3	3264	+	Breast(117;0.155)		900					Q86X34	Missense_Mutation	SNP	ENST00000598519.1	37	c.2711C>T	CCDS33116.3	.	.	.	.	.	.	.	.	.	.	.	8.351	0.830973	0.16820	.	.	ENSG00000197483	ENST00000391718	T	0.07444	3.19	3.52	3.52	0.40303	.	0.000000	0.36972	U	0.002307	T	0.04318	0.0119	N	0.14661	0.345	0.09310	N	1	P	0.39737	0.685	B	0.28784	0.094	T	0.37776	-0.9691	10	0.87932	D	0	.	10.9276	0.47199	0.0:1.0:0.0:0.0	.	900	Q5EBL2	ZN628_HUMAN	L	900	ENSP00000375598:P900L	ENSP00000375598:P900L	P	+	2	0	ZNF628	60687083	0.064000	0.20934	0.002000	0.10522	0.203000	0.24098	3.906000	0.56340	1.693000	0.51124	0.289000	0.19496	CCG		0.662	ZNF628-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317934.2	XM_058964		4	20	0	0	0	1	0	4	20				
SEMA3C	10512	broad.mit.edu	37	7	80378274	80378274	+	Silent	SNP	G	G	A			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr7:80378274G>A	ENST00000265361.3	-	17	2343	c.1782C>T	c.(1780-1782)ccC>ccT	p.P594P	SEMA3C_ENST00000419255.2_Silent_p.P594P|SEMA3C_ENST00000544525.1_Silent_p.P612P	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	594	Ig-like C2-type.				axon guidance (GO:0007411)|blood vessel remodeling (GO:0001974)|cardiac right ventricle morphogenesis (GO:0003215)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|immune response (GO:0006955)|limb bud formation (GO:0060174)|neural crest cell migration (GO:0001755)|neural tube development (GO:0021915)|outflow tract morphogenesis (GO:0003151)|post-embryonic development (GO:0009791)|pulmonary myocardium development (GO:0003350)|response to drug (GO:0042493)|somitogenesis (GO:0001756)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						GCGGAGACTTGGGGGCACACT	0.458																																						ENST00000265361.3																			0				NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						c.(1780-1782)ccC>ccT		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C							137.0	126.0	130.0					7																	80378274		2203	4300	6503	SO:0001819	synonymous_variant	10512				immune response|response to drug	membrane	receptor activity	g.chr7:80378274G>A	AB000220	CCDS5596.1	7q21-q31	2013-01-11			ENSG00000075223	ENSG00000075223		"""Semaphorins"", ""Immunoglobulin superfamily / I-set domain containing"""	10725	protein-coding gene	gene with protein product		602645		SEMAE		7748561, 9168980	Standard	NM_006379		Approved	SemE	uc003uhj.3	Q99985	OTTHUMG00000023447	ENST00000265361.3:c.1782C>T	7.37:g.80378274G>A						SEMA3C_ENST00000419255.2_Silent_p.P594P|SEMA3C_ENST00000544525.1_Silent_p.P612P	p.P594P	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN			17	2343	-			594			Ig-like C2-type.		B4DRL8	Silent	SNP	ENST00000265361.3	37	c.1782C>T	CCDS5596.1																																																																																				0.458	SEMA3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253279.1	NM_006379		25	52	0	0	0	1	0	25	52				
KLK5	25818	broad.mit.edu	37	19	51451987	51451987	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr19:51451987A>C	ENST00000336334.3	-	5	987	c.635T>G	c.(634-636)cTa>cGa	p.L212R	CTB-147C22.8_ENST00000594939.1_RNA|KLK5_ENST00000391809.2_Missense_Mutation_p.L212R|CTB-147C22.8_ENST00000601506.1_RNA|KLK5_ENST00000593428.1_Missense_Mutation_p.L212R	NM_012427.4	NP_036559	Q9Y337	KLK5_HUMAN	kallikrein-related peptidase 5	212	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				epidermis development (GO:0008544)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)	epidermal lamellar body (GO:0097209)|extracellular space (GO:0005615)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)		TTTCTGACTTAGCACGCTGAT	0.517																																						ENST00000336334.3																			0				NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	15						c.(634-636)cTa>cGa		kallikrein-related peptidase 5							139.0	117.0	125.0					19																	51451987		2203	4300	6503	SO:0001583	missense	25818				epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity	g.chr19:51451987A>C	AF135028	CCDS12810.1	19q13.33	2008-02-05	2006-10-27			ENSG00000167754		"""Kallikreins"""	6366	protein-coding gene	gene with protein product		605643	"""kallikrein 5"""			10514489, 10608802, 1680072, 4, 16800723, 17012259	Standard	NM_012427		Approved	SCTE, KLK-L2	uc002puf.3	Q9Y337		ENST00000336334.3:c.635T>G	19.37:g.51451987A>C	ENSP00000337733:p.Leu212Arg					KLK5_ENST00000391809.2_Missense_Mutation_p.L212R|KLK5_ENST00000593428.1_Missense_Mutation_p.L212R	p.L212R	NM_012427.4	NP_036559.1	Q9Y337	KLK5_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)	5	987	-		all_neural(266;0.026)	212			Peptidase S1.		Q53ZR3|Q9HBG8	Missense_Mutation	SNP	ENST00000336334.3	37	c.635T>G	CCDS12810.1	.	.	.	.	.	.	.	.	.	.	a	9.499	1.102790	0.20632	.	.	ENSG00000167754	ENST00000336334;ENST00000391809	D;D	0.89485	-2.52;-2.52	4.67	3.65	0.41850	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.378661	0.15582	U	0.254886	D	0.88562	0.6470	M	0.81802	2.56	0.31597	N	0.653147	B	0.30793	0.295	B	0.33890	0.172	D	0.86379	0.1728	10	0.44086	T	0.13	.	8.8757	0.35343	0.8328:0.0:0.0:0.1672	.	212	Q9Y337	KLK5_HUMAN	R	212	ENSP00000337733:L212R;ENSP00000375685:L212R	ENSP00000337733:L212R	L	-	2	0	KLK5	56143799	0.988000	0.35896	0.553000	0.28255	0.007000	0.05969	5.562000	0.67346	0.786000	0.33708	-0.336000	0.08194	CTA		0.517	KLK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465057.1	NM_012427		8	51	0	0	0	1	0	8	51				
TP53	7157	broad.mit.edu	37	17	7574018	7574018	+	Missense_Mutation	SNP	G	G	A	rs587782529		TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr17:7574018G>A	ENST00000269305.4	-	10	1198	c.1009C>T	c.(1009-1011)Cgc>Tgc	p.R337C	TP53_ENST00000420246.2_3'UTR|TP53_ENST00000359597.4_Intron|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.R337C|TP53_ENST00000413465.2_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	337	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.|Interaction with HIPK2.|Oligomerization.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:9452042}.|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:11481490}.|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R337C(18)|p.0?(8)|p.R337fs*8(2)|p.R337G(1)|p.?(1)|p.I332fs*5(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ATCTCGAAGCGCTCACGCCCA	0.522		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000269305.4		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		31	Substitution - Missense(19)|Whole gene deletion(8)|Deletion - Frameshift(3)|Unknown(1)	p.R337C(18)|p.0?(8)|p.R337fs*8(2)|p.R337G(1)|p.?(1)|p.I332fs*5(1)	central_nervous_system(6)|large_intestine(5)|ovary(4)|bone(4)|breast(3)|haematopoietic_and_lymphoid_tissue(2)|oesophagus(2)|stomach(1)|liver(1)|peritoneum(1)|lung(1)|kidney(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM981929	TP53	M		c.(1009-1011)Cgc>Tgc	Other conserved DNA damage response genes	tumor protein p53							56.0	44.0	48.0					17																	7574018		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7574018G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.1009C>T	17.37:g.7574018G>A	ENSP00000269305:p.Arg337Cys	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000420246.2_3'UTR|TP53_ENST00000359597.4_Intron|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R337C	p.R337C	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	10	1198	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	337		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.1009C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	9.719	1.159246	0.21454	.	.	ENSG00000141510	ENST00000269305;ENST00000445888;ENST00000396473	D;D	0.95205	-3.64;-3.64	5.43	3.38	0.38709	p53, tetramerisation domain (3);	0.000000	0.85682	D	0.000000	D	0.94321	0.8175	M	0.82323	2.585	0.48341	D	0.999635	P	0.39940	0.696	B	0.40940	0.344	D	0.93083	0.6493	10	0.87932	D	0	-7.3279	12.447	0.55657	0.0:0.0:0.6947:0.3053	.	337	P04637	P53_HUMAN	C	337;337;326	ENSP00000269305:R337C;ENSP00000391478:R337C	ENSP00000269305:R337C	R	-	1	0	TP53	7514743	0.558000	0.26554	0.006000	0.13384	0.274000	0.26718	1.012000	0.29924	0.615000	0.30124	0.561000	0.74099	CGC		0.522	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		7	27	0	0	0	1	0	7	27				
LOC101927209	101927209	broad.mit.edu	37	1	142713944	142713944	+	lincRNA	SNP	C	C	T	rs199960649		TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr1:142713944C>T	ENST00000610091.1	-	0	1714																											TGATTACCTCCGAAGTTAAAG	0.308																																						ENST00000369381.2																			0																																																			101927209							g.chr1:142713944C>T																													1.37:g.142713944C>T														0	661	-									RNA	SNP	ENST00000610091.1	37																																																																																						0.308	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			5	16	0	0	0	1	0	5	16				
THAP9	79725	broad.mit.edu	37	4	83839311	83839311	+	Missense_Mutation	SNP	A	A	G	rs148766490		TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr4:83839311A>G	ENST00000302236.5	+	5	1997	c.1946A>G	c.(1945-1947)gAt>gGt	p.D649G	LIN54_ENST00000505905.1_Intron	NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	649					DNA integration (GO:0015074)|DNA recombination (GO:0006310)|transposition, DNA-mediated (GO:0006313)		metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transferase activity (GO:0016740)|transposase activity (GO:0004803)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				AAATTTCAAGATGAAGTTTTT	0.398																																						ENST00000302236.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33						c.(1945-1947)gAt>gGt		THAP domain containing 9		A	GLY/ASP	2,4402	2.1+/-5.4	0,2,2200	59.0	61.0	60.0		1946	2.7	0.5	4	dbSNP_134	60	0,8598		0,0,4299	no	missense	THAP9	NM_024672.4	94	0,2,6499	GG,GA,AA		0.0,0.0454,0.0154	benign	649/904	83839311	2,13000	2202	4299	6501	SO:0001583	missense	79725						DNA binding|metal ion binding	g.chr4:83839311A>G	AK091412	CCDS3598.1	4q21.3	2013-01-25			ENSG00000168152	ENSG00000168152		"""THAP (C2CH-type zinc finger) domain containing"""	23192	protein-coding gene	gene with protein product		612537				12575992	Standard	NM_024672		Approved	FLJ34093	uc003hnt.2	Q9H5L6	OTTHUMG00000130291	ENST00000302236.5:c.1946A>G	4.37:g.83839311A>G	ENSP00000305533:p.Asp649Gly					LIN54_ENST00000505905.1_Intron	p.D649G	NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN			5	1997	+		Hepatocellular(203;0.114)	649					B3KRE2|Q59AC9	Missense_Mutation	SNP	ENST00000302236.5	37	c.1946A>G	CCDS3598.1	.	.	.	.	.	.	.	.	.	.	A	0.269	-0.994153	0.02145	4.54E-4	0.0	ENSG00000168152	ENST00000302236;ENST00000536314	D	0.90004	-2.6	3.87	2.69	0.31865	.	0.478199	0.17721	N	0.164248	T	0.72534	0.3472	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.57768	-0.7754	10	0.24483	T	0.36	-5.2832	4.1236	0.10116	0.6814:0.2096:0.109:0.0	.	649	Q9H5L6	THAP9_HUMAN	G	649	ENSP00000305533:D649G	ENSP00000305533:D649G	D	+	2	0	THAP9	84058335	0.013000	0.17824	0.473000	0.27253	0.041000	0.13682	0.771000	0.26633	0.841000	0.35020	0.533000	0.62120	GAT		0.398	THAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252633.1	NM_024672		21	56	0	0	0	1	0	21	56				
CCR10	2826	broad.mit.edu	37	17	40832539	40832539	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr17:40832539G>A	ENST00000332438.4	-	2	140	c.121C>T	c.(121-123)Cgg>Tgg	p.R41W	CTD-3193K9.4_ENST00000593139.1_RNA|CTD-3193K9.3_ENST00000592440.1_RNA|CCR10_ENST00000591765.1_5'UTR|CNTNAP1_ENST00000264638.4_5'Flank	NM_016602.2	NP_057686.2	P46092	CCR10_HUMAN	chemokine (C-C motif) receptor 10	41					chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|G-protein coupled receptor activity (GO:0004930)			lung(1)|ovary(1)|skin(1)	3		Breast(137;0.000153)		BRCA - Breast invasive adenocarcinoma(366;0.14)		TGGAAGGCCCGGCTGAAGGCC	0.667																																						ENST00000332438.4																			0				lung(1)|ovary(1)|skin(1)	3						c.(121-123)Cgg>Tgg		chemokine (C-C motif) receptor 10							21.0	19.0	20.0					17																	40832539		2186	4275	6461	SO:0001583	missense	2826					integral to plasma membrane		g.chr17:40832539G>A	AF215981	CCDS11435.1	17q21.1-q21.3	2012-08-08	2004-11-12	2004-11-12	ENSG00000184451	ENSG00000184451		"""GPCR / Class A : Chemokine receptors : C-C motif"""	4474	protein-coding gene	gene with protein product		600240	"""G protein-coupled receptor 2"""	GPR2		7851889	Standard	NM_016602		Approved		uc002iax.4	P46092	OTTHUMG00000132301	ENST00000332438.4:c.121C>T	17.37:g.40832539G>A	ENSP00000332504:p.Arg41Trp					CCR10_ENST00000591765.1_5'UTR|CTD-3193K9.4_ENST00000593139.1_RNA	p.R41W	NM_016602.2	NP_057686.2	P46092	CCR10_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.14)	2	140	-		Breast(137;0.000153)	41					Q4V749|Q6T7X2|Q9NZG2	Missense_Mutation	SNP	ENST00000332438.4	37	c.121C>T	CCDS11435.1	.	.	.	.	.	.	.	.	.	.	G	16.93	3.257233	0.59321	.	.	ENSG00000184451	ENST00000332438	T	0.39229	1.09	4.27	-0.849	0.10723	.	0.000000	0.38492	N	0.001675	T	0.49133	0.1539	L	0.50333	1.59	0.23896	N	0.996539	D	0.76494	0.999	D	0.67548	0.952	T	0.38178	-0.9673	10	0.72032	D	0.01	.	7.7201	0.28727	0.0823:0.0:0.353:0.5647	.	41	P46092	CCR10_HUMAN	W	41	ENSP00000332504:R41W	ENSP00000332504:R41W	R	-	1	2	CCR10	38086065	0.000000	0.05858	0.407000	0.26434	0.897000	0.52465	0.235000	0.17948	0.031000	0.15407	0.462000	0.41574	CGG		0.667	CCR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255406.1	NM_016602		8	37	0	0	0	1	0	8	37				
NLRP12	91662	broad.mit.edu	37	19	54314025	54314025	+	Silent	SNP	G	G	A	rs538564043		TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr19:54314025G>A	ENST00000324134.6	-	3	1056	c.888C>T	c.(886-888)ttC>ttT	p.F296F	NLRP12_ENST00000391772.1_Silent_p.F296F|NLRP12_ENST00000351894.4_Silent_p.F296F|NLRP12_ENST00000354278.3_Silent_p.F296F|NLRP12_ENST00000391773.1_Silent_p.F296F|NLRP12_ENST00000391775.3_Silent_p.F296F|NLRP12_ENST00000535162.1_Silent_p.F296F|NLRP12_ENST00000345770.5_Silent_p.F296F	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	296	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TGAGCTCATCGAAGCCGTCGA	0.587													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17741	0.0		0.0	False		,,,				2504	0.0					ENST00000324134.6																			0				NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80						c.(886-888)ttC>ttT		NLR family, pyrin domain containing 12							47.0	48.0	48.0					19																	54314025		2203	4300	6503	SO:0001819	synonymous_variant	91662				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	g.chr19:54314025G>A	AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"""Nucleotide-binding domain and leucine rich repeat containing"""	22938	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"""	609648	"""NACHT, leucine rich repeat and PYD containing 12"""	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.888C>T	19.37:g.54314025G>A						NLRP12_ENST00000351894.4_Silent_p.F296F|NLRP12_ENST00000391772.1_Silent_p.F296F|NLRP12_ENST00000535162.1_Silent_p.F296F|NLRP12_ENST00000354278.3_Silent_p.F296F|NLRP12_ENST00000345770.5_Silent_p.F296F|NLRP12_ENST00000391775.3_Silent_p.F296F|NLRP12_ENST00000391773.1_Silent_p.F296F	p.F296F	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN		GBM - Glioblastoma multiforme(134;0.026)	3	1056	-	Ovarian(34;0.19)		296			NACHT.		A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Silent	SNP	ENST00000324134.6	37	c.888C>T	CCDS12864.1																																																																																				0.587	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687		13	41	0	0	0	1	0	13	41				
HCFC2	29915	broad.mit.edu	37	12	104492254	104492254	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr12:104492254C>G	ENST00000229330.4	+	13	1978	c.1874C>G	c.(1873-1875)tCa>tGa	p.S625*	HCFC2_ENST00000550335.1_3'UTR	NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2	625	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						CAAAGCATCTCAAAGGTAGCT	0.338																																					Esophageal Squamous(184;1814 2036 4771 6974 15702)	ENST00000229330.4																			0				breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						c.(1873-1875)tCa>tGa		host cell factor C2							57.0	64.0	62.0					12																	104492254		2203	4300	6503	SO:0001587	stop_gained	29915				regulation of transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus	transcription coactivator activity	g.chr12:104492254C>G	AF117210	CCDS9097.1	12q23.3	2011-03-30			ENSG00000111727	ENSG00000111727			24972	protein-coding gene	gene with protein product		607926				10196288	Standard	NM_013320		Approved	HCF-2	uc001tkj.4	Q9Y5Z7	OTTHUMG00000170175	ENST00000229330.4:c.1874C>G	12.37:g.104492254C>G	ENSP00000229330:p.Ser625*					HCFC2_ENST00000550335.1_3'UTR	p.S625*	NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN			13	1978	+			625			Fibronectin type-III 2.		B2R8Q5|C0H5X3	Nonsense_Mutation	SNP	ENST00000229330.4	37	c.1874C>G	CCDS9097.1	.	.	.	.	.	.	.	.	.	.	C	38	7.153899	0.98099	.	.	ENSG00000111727	ENST00000229330	.	.	.	5.71	4.82	0.62117	.	0.384895	0.26991	N	0.021469	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-6.6161	10.8409	0.46715	0.1306:0.8009:0.0:0.0684	.	.	.	.	X	625	.	ENSP00000229330:S625X	S	+	2	0	HCFC2	103016384	0.896000	0.30565	1.000000	0.80357	0.989000	0.77384	3.133000	0.50531	1.426000	0.47256	0.650000	0.86243	TCA		0.338	HCFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407780.1	NM_013320		15	52	0	0	0	1	0	15	52				
SLC1A6	6511	broad.mit.edu	37	19	15072948	15072948	+	Silent	SNP	G	G	A	rs138937772	byFrequency	TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr19:15072948G>A	ENST00000221742.3	-	5	808	c.801C>T	c.(799-801)aaC>aaT	p.N267N	SLC1A6_ENST00000430939.2_Silent_p.N203N|SLC1A6_ENST00000544886.2_Silent_p.N267N|SLC1A6_ENST00000598504.1_Silent_p.N267N|SLC1A6_ENST00000600144.1_Silent_p.N267N	NM_005071.1	NP_005062.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	267					aspartate transport (GO:0015810)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						GGCCCAGGGCGTTGATGCCAT	0.582													N|||	2	0.000399361	0.0008	0.0014	5008	,	,		20954	0.0		0.0	False		,,,				2504	0.0					ENST00000598504.1																			0				breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						c.(799-801)aaC>aaT		solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	L-Glutamic Acid(DB00142)	G		13,4393	19.1+/-41.9	0,13,2190	94.0	88.0	90.0		801	-2.0	1.0	19	dbSNP_134	90	0,8600		0,0,4300	no	coding-synonymous	SLC1A6	NM_005071.1		0,13,6490	AA,AG,GG		0.0,0.2951,0.1		267/565	15072948	13,12993	2203	4300	6503	SO:0001819	synonymous_variant	6511				synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr19:15072948G>A		CCDS12321.1, CCDS62578.1	19p13.12	2013-07-15			ENSG00000105143	ENSG00000105143		"""Solute carriers"""	10944	protein-coding gene	gene with protein product		600637				7791878	Standard	NM_005071		Approved	EAAT4	uc002naa.2	P48664	OTTHUMG00000183351	ENST00000221742.3:c.801C>T	19.37:g.15072948G>A						SLC1A6_ENST00000221742.3_Silent_p.N267N|SLC1A6_ENST00000430939.2_Silent_p.N203N|SLC1A6_ENST00000544886.2_Silent_p.N267N|SLC1A6_ENST00000600144.1_Silent_p.N267N	p.N267N	NM_001272087.1	NP_001259016.1	P48664	EAA4_HUMAN			8	2160	-			267					Q8N753	Silent	SNP	ENST00000221742.3	37	c.801C>T	CCDS12321.1																																																																																				0.582	SLC1A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466283.1	NM_005071		17	81	0	0	0	1	0	17	81				
TET2	54790	broad.mit.edu	37	4	106156747	106156747	+	Nonsense_Mutation	SNP	C	C	T	rs572712965	byFrequency	TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr4:106156747C>T	ENST00000540549.1	+	3	2508	c.1648C>T	c.(1648-1650)Cga>Tga	p.R550*	TET2_ENST00000394764.1_Nonsense_Mutation_p.R550*|TET2_ENST00000413648.2_Nonsense_Mutation_p.R550*|TET2_ENST00000380013.4_Nonsense_Mutation_p.R550*|TET2_ENST00000305737.2_Nonsense_Mutation_p.R550*|TET2_ENST00000513237.1_Nonsense_Mutation_p.R571*|TET2_ENST00000545826.1_Nonsense_Mutation_p.R550*			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	550					5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)	p.R550*(20)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		GGAGCAAACACGAGATCTTGT	0.468			"""Mis N, F"""		MDS								C|||	2	0.000399361	0.0	0.0014	5008	,	,		20410	0.001		0.0	False		,,,				2504	0.0					ENST00000513237.1				Rec	yes		4	4q24	54790	"""Mis N, F"""	tet oncogene family member 2			L			MDS		20	Substitution - Nonsense(20)	p.R550*(20)	haematopoietic_and_lymphoid_tissue(20)	NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314						c.(1711-1713)Cga>Tga		tet methylcytosine dioxygenase 2							93.0	92.0	92.0					4																	106156747		2203	4300	6503	SO:0001587	stop_gained	54790				cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr4:106156747C>T	AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"""KIAA1546"", ""tet oncogene family member 2"""	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.1648C>T	4.37:g.106156747C>T	ENSP00000442788:p.Arg550*					TET2_ENST00000394764.1_Nonsense_Mutation_p.R550*|TET2_ENST00000380013.4_Nonsense_Mutation_p.R550*|TET2_ENST00000413648.2_Nonsense_Mutation_p.R550*|TET2_ENST00000545826.1_Nonsense_Mutation_p.R550*|TET2_ENST00000305737.2_Nonsense_Mutation_p.R550*|TET2_ENST00000540549.1_Nonsense_Mutation_p.R550*	p.R571*			Q6N021	TET2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)	3	2508	+		Myeloproliferative disorder(5;0.0393)	550					B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Nonsense_Mutation	SNP	ENST00000540549.1	37	c.1711C>T	CCDS47120.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.822696	0.90873	.	.	ENSG00000168769	ENST00000305737;ENST00000540549;ENST00000545826;ENST00000513237;ENST00000380013;ENST00000394764;ENST00000413648;ENST00000535110	.	.	.	5.31	2.36	0.29203	.	1.946010	0.03107	N	0.161907	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.2924	0.10885	0.2721:0.532:0.0:0.1959	.	.	.	.	X	550;550;550;571;550;550;550;550	.	ENSP00000265149:R550X	R	+	1	2	TET2	106376196	0.005000	0.15991	0.006000	0.13384	0.002000	0.02628	1.370000	0.34238	1.250000	0.43966	-0.145000	0.13849	CGA		0.468	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253952.2	NM_017628		14	64	0	0	0	1	0	14	64				
TTN	7273	broad.mit.edu	37	2	179588160	179588160	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr2:179588160G>A	ENST00000591111.1	-	72	20940	c.20716C>T	c.(20716-20718)Cgt>Tgt	p.R6906C	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.R5979C|TTN_ENST00000589042.1_Missense_Mutation_p.R7223C|TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin	12493	Ig-like 50.				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)			ACAAAGAGACGGGTAGTGCAA	0.413																																						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.(21667-21669)Cgt>Tgt		titin							73.0	74.0	74.0					2																	179588160		1940	4147	6087	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179588160G>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.20716C>T	2.37:g.179588160G>A	ENSP00000465570:p.Arg6906Cys					TTN_ENST00000342992.6_Missense_Mutation_p.R5979C|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.R6906C|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron	p.R7223C	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)		74	21891	-			6906			Ig-like 54.		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.21667C>T		.	.	.	.	.	.	.	.	.	.	g	5.837	0.338667	0.11069	.	.	ENSG00000155657	ENST00000342992	T	0.68025	-0.3	6.06	5.19	0.71726	Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.71341	0.3328	L	0.54908	1.71	0.36726	D	0.881428	D	0.59357	0.985	P	0.51229	0.663	T	0.79650	-0.1715	9	0.87932	D	0	.	15.6843	0.77396	0.0653:0.0:0.9347:0.0	.	6906	Q8WZ42	TITIN_HUMAN	C	5979	ENSP00000343764:R5979C	ENSP00000343764:R5979C	R	-	1	0	TTN	179296405	0.032000	0.19561	0.508000	0.27688	0.774000	0.43823	2.202000	0.42743	1.590000	0.49995	-0.127000	0.14921	CGT		0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		8	23	0	0	0	1	0	8	23				
FES	2242	broad.mit.edu	37	15	91436545	91436545	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr15:91436545G>A	ENST00000328850.3	+	16	2088	c.1946G>A	c.(1945-1947)cGc>cAc	p.R649H	FES_ENST00000444422.2_Missense_Mutation_p.R579H|FES_ENST00000450438.2_Missense_Mutation_p.R521H|FES_ENST00000414248.2_Missense_Mutation_p.R521H|FES_ENST00000394300.3_Missense_Mutation_p.R591H|FES_ENST00000394302.1_Missense_Mutation_p.R508H	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	FES proto-oncogene, tyrosine kinase	649	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of neuron projection development (GO:0010976)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of cell motility (GO:2000145)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of mast cell degranulation (GO:0043304)|regulation of vesicle-mediated transport (GO:0060627)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule cytoskeleton (GO:0015630)	ATP binding (GO:0005524)|immunoglobulin receptor binding (GO:0034987)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol binding (GO:0035091)|protein tyrosine kinase activity (GO:0004713)			lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			ACCTTCCTCCGCACGGAGGGG	0.672																																						ENST00000328850.3																			0				lung(2)|ovary(1)	3						c.(1945-1947)cGc>cAc		feline sarcoma oncogene							18.0	21.0	20.0					15																	91436545		2195	4294	6489	SO:0001583	missense	2242				axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr15:91436545G>A	X52192	CCDS10365.1, CCDS45349.1, CCDS45350.1, CCDS45351.1	15q26.1	2014-06-26	2014-06-26		ENSG00000182511	ENSG00000182511	2.7.10.1	"""SH2 domain containing"""	3657	protein-coding gene	gene with protein product	"""Oncogene FES, feline sarcoma virus"", ""c-fes/fps protein"""	190030	"""feline sarcoma (Snyder-Theilen) viral (v-fes)/Fujinami avian sarcoma (PRCII) viral (v-fps) oncogene homolog"", ""feline sarcoma oncogene"""			1870997	Standard	NM_002005		Approved	FPS	uc002bpv.3	P07332	OTTHUMG00000044456	ENST00000328850.3:c.1946G>A	15.37:g.91436545G>A	ENSP00000331504:p.Arg649His					FES_ENST00000394300.3_Missense_Mutation_p.R591H|FES_ENST00000414248.2_Missense_Mutation_p.R521H|FES_ENST00000394302.1_Missense_Mutation_p.R508H|FES_ENST00000450438.2_Missense_Mutation_p.R521H|FES_ENST00000444422.2_Missense_Mutation_p.R579H	p.R649H	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	Lung(145;0.229)		16	2088	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		649			Protein kinase.		B2R6E6|B4DUD0|E9PC94|E9PC95|Q2VXS7|Q2VXS8|Q2VXT0|Q6GTU5	Missense_Mutation	SNP	ENST00000328850.3	37	c.1946G>A	CCDS10365.1	.	.	.	.	.	.	.	.	.	.	G	36	5.611133	0.96637	.	.	ENSG00000182511	ENST00000328850;ENST00000414248;ENST00000394302;ENST00000444422;ENST00000394300;ENST00000450438	D;D;D;D;D;D	0.83914	-1.78;-1.78;-1.78;-1.78;-1.78;-1.78	5.42	5.42	0.78866	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.051377	0.85682	D	0.000000	D	0.89315	0.6680	L	0.52573	1.65	0.80722	D	1	D;D;P;D;D;D	0.89917	0.996;1.0;0.887;0.995;1.0;0.996	P;D;P;P;D;P	0.80764	0.664;0.994;0.464;0.534;0.993;0.664	D	0.89256	0.3594	10	0.59425	D	0.04	-57.6603	19.6452	0.95773	0.0:0.0:1.0:0.0	.	631;521;508;591;579;649	B4DUD9;P07332-2;E7ENM8;P07332-3;P07332-4;P07332	.;.;.;.;.;FES_HUMAN	H	649;521;508;579;591;521	ENSP00000331504:R649H;ENSP00000414629:R521H;ENSP00000377839:R508H;ENSP00000400868:R579H;ENSP00000377837:R591H;ENSP00000409915:R521H	ENSP00000331504:R649H	R	+	2	0	FES	89237549	1.000000	0.71417	0.329000	0.25429	0.943000	0.58893	9.624000	0.98398	2.720000	0.93068	0.555000	0.69702	CGC		0.672	FES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313497.1	NM_002005		8	32	0	0	0	1	0	8	32				
YY1AP1	55249	broad.mit.edu	37	1	155629623	155629623	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr1:155629623G>A	ENST00000295566.4	-	11	2239	c.2216C>T	c.(2215-2217)tCa>tTa	p.S739L	YY1AP1_ENST00000404643.1_Missense_Mutation_p.S673L|YY1AP1_ENST00000347088.5_Missense_Mutation_p.S693L|YY1AP1_ENST00000361831.5_Missense_Mutation_p.S682L|YY1AP1_ENST00000535662.1_Missense_Mutation_p.S539L|YY1AP1_ENST00000368330.2_Missense_Mutation_p.S693L|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000368340.5_Missense_Mutation_p.S811L|YY1AP1_ENST00000359205.5_Missense_Mutation_p.S682L|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000368339.5_Missense_Mutation_p.S831L|YY1AP1_ENST00000355499.4_Missense_Mutation_p.S693L|YY1AP1_ENST00000311573.5_Missense_Mutation_p.S662L|YY1AP1_ENST00000407221.1_Missense_Mutation_p.S662L	NM_001198906.1|NM_139118.2	NP_001185835.1|NP_620829.1	Q9H869	YYAP1_HUMAN	YY1 associated protein 1	739					regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					ACTGTTCTCTGACAATCCTTC	0.537																																						ENST00000368340.5																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31						c.(2431-2433)tCa>tTa		YY1 associated protein 1							147.0	134.0	138.0					1																	155629623		2203	4300	6503	SO:0001583	missense	55249							g.chr1:155629623G>A	BC008766	CCDS1115.1, CCDS1116.1, CCDS55643.1, CCDS55644.1, CCDS55645.1	1q22	2009-05-07			ENSG00000163374	ENSG00000163374			30935	protein-coding gene	gene with protein product		607860				11710830	Standard	NM_139119		Approved	YY1AP, HCCA2, YAP		Q9H869	OTTHUMG00000035437	ENST00000295566.4:c.2216C>T	1.37:g.155629623G>A	ENSP00000295566:p.Ser739Leu					MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000404643.1_Missense_Mutation_p.S673L|YY1AP1_ENST00000359205.5_Missense_Mutation_p.S682L|YY1AP1_ENST00000368330.2_Missense_Mutation_p.S693L|YY1AP1_ENST00000311573.5_Missense_Mutation_p.S662L|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000295566.4_Missense_Mutation_p.S739L|YY1AP1_ENST00000535662.1_Missense_Mutation_p.S539L|YY1AP1_ENST00000355499.4_Missense_Mutation_p.S693L|YY1AP1_ENST00000347088.5_Missense_Mutation_p.S693L|YY1AP1_ENST00000407221.1_Missense_Mutation_p.S662L|YY1AP1_ENST00000361831.5_Missense_Mutation_p.S682L|YY1AP1_ENST00000368339.5_Missense_Mutation_p.S831L	p.S811L	NM_001198904.1	NP_001185833.1					10	2540	-	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)							B0QZ54|B4DMP2|B4E0I0|D3DV96|D3DV98|H7BY62|Q5VYZ1|Q5VYZ4|Q5VYZ7|Q7L4C3|Q7L5E2|Q8IXA6|Q8TEW5|Q8TF04|Q96HB6|Q9BQ64|Q9NV84	Missense_Mutation	SNP	ENST00000295566.4	37	c.2432C>T	CCDS1115.1	.	.	.	.	.	.	.	.	.	.	g	17.71	3.456937	0.63401	.	.	ENSG00000163374	ENST00000359205;ENST00000355499;ENST00000311573;ENST00000347088;ENST00000361831;ENST00000368340;ENST00000295566;ENST00000368330;ENST00000407221;ENST00000404643;ENST00000368339;ENST00000535662	T;T;T;T;T;T;T;T;T;T;T;T	0.26660	1.77;1.77;1.81;1.77;1.77;1.76;1.78;1.77;1.81;1.8;1.72;1.81	2.57	1.62	0.23740	.	1.172550	0.06148	N	0.673636	T	0.14570	0.0352	L	0.29908	0.895	0.09310	N	1	B;P;P;P;P	0.47762	0.176;0.897;0.814;0.9;0.617	B;P;P;P;B	0.58391	0.086;0.624;0.838;0.72;0.242	T	0.20773	-1.0265	10	0.32370	T	0.25	.	2.7044	0.05158	0.1647:0.0:0.5502:0.285	.	831;673;739;693;811	B4DMP2;Q9H869-4;Q9H869;Q9H869-2;Q5VYZ1	.;.;YYAP1_HUMAN;.;.	L	682;693;662;693;682;811;739;693;662;673;831;539	ENSP00000352134:S682L;ENSP00000347686:S693L;ENSP00000311138:S662L;ENSP00000316079:S693L;ENSP00000355298:S682L;ENSP00000357324:S811L;ENSP00000295566:S739L;ENSP00000357314:S693L;ENSP00000385791:S662L;ENSP00000385390:S673L;ENSP00000357323:S831L;ENSP00000437926:S539L	ENSP00000295566:S739L	S	-	2	0	YY1AP1	153896247	0.000000	0.05858	0.031000	0.17742	0.881000	0.50899	0.638000	0.24674	1.424000	0.47217	0.313000	0.20887	TCA		0.537	YY1AP1-043	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000086027.1	NM_139118		25	78	0	0	0	1	0	25	78				
SLC37A1	54020	broad.mit.edu	37	21	43959639	43959639	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr21:43959639G>A	ENST00000352133.2	+	6	1350	c.368G>A	c.(367-369)cGc>cAc	p.R123H	SLC37A1_ENST00000398341.3_Missense_Mutation_p.R123H			P57057	GLPT_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 1	123					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	transporter activity (GO:0005215)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(3)	15						ATTGGGGAGCGCCTGCCGATT	0.517																																						ENST00000352133.2																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(3)	15						c.(367-369)cGc>cAc		solute carrier family 37 (glucose-6-phosphate transporter), member 1							103.0	95.0	98.0					21																	43959639		2203	4300	6503	SO:0001583	missense	54020				carbohydrate transport|transmembrane transport	integral to membrane		g.chr21:43959639G>A	AJ269529	CCDS13689.1	21q22.3	2013-07-17	2013-07-17		ENSG00000160190	ENSG00000160190		"""Solute carriers"""	11024	protein-coding gene	gene with protein product		608094	"""solute carrier family 37 (glycerol-3-phosphate transporter), member 1"""			11112347	Standard	NM_018964		Approved		uc002zbi.3	P57057	OTTHUMG00000086803	ENST00000352133.2:c.368G>A	21.37:g.43959639G>A	ENSP00000344648:p.Arg123His					SLC37A1_ENST00000398341.3_Missense_Mutation_p.R123H	p.R123H			P57057	GLPT_HUMAN			6	1350	+			123					D3DSJ7|Q9HAQ1	Missense_Mutation	SNP	ENST00000352133.2	37	c.368G>A	CCDS13689.1	.	.	.	.	.	.	.	.	.	.	G	16.82	3.229125	0.58777	.	.	ENSG00000160190	ENST00000398341;ENST00000352133	T;T	0.65549	-0.16;-0.16	4.8	4.8	0.61643	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.70124	0.3188	M	0.83692	2.655	0.80722	D	1	D	0.56035	0.974	P	0.45037	0.467	T	0.77988	-0.2380	10	0.59425	D	0.04	-9.3459	17.8856	0.88852	0.0:0.0:1.0:0.0	.	123	P57057	GLPT_HUMAN	H	123	ENSP00000381383:R123H;ENSP00000344648:R123H	ENSP00000344648:R123H	R	+	2	0	SLC37A1	42832708	1.000000	0.71417	1.000000	0.80357	0.186000	0.23388	9.496000	0.97967	2.223000	0.72356	0.555000	0.69702	CGC		0.517	SLC37A1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195377.1			15	64	0	0	0	1	0	15	64				
MLLT4	4301	broad.mit.edu	37	6	168315910	168315910	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr6:168315910G>A	ENST00000447894.2	+	18	2341	c.2341G>A	c.(2341-2343)Gcc>Acc	p.A781T	MLLT4_ENST00000400822.3_Missense_Mutation_p.A780T|MLLT4_ENST00000351017.4_Missense_Mutation_p.A788T|MLLT4_ENST00000344191.4_Missense_Mutation_p.A781T|MLLT4_ENST00000392108.3_Missense_Mutation_p.A781T|MLLT4_ENST00000366806.2_Missense_Mutation_p.A781T|MLLT4_ENST00000392112.1_Missense_Mutation_p.A765T			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	781	Dilute. {ECO:0000255|PROSITE- ProRule:PRU00503}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		AGTCAATGCCGCCCTGACCAT	0.537			T	MLL	AL																																	ENST00000366806.2				Dom	yes		6	6q27	4301	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"""			L	MLL		AL		0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(2341-2343)Gcc>Acc		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4							141.0	110.0	121.0					6																	168315910		2203	4300	6503	SO:0001583	missense	4301				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding	g.chr6:168315910G>A	AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"""			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.2341G>A	6.37:g.168315910G>A	ENSP00000404595:p.Ala781Thr					MLLT4_ENST00000392112.1_Missense_Mutation_p.A765T|MLLT4_ENST00000351017.4_Missense_Mutation_p.A788T|MLLT4_ENST00000447894.2_Missense_Mutation_p.A781T|MLLT4_ENST00000344191.4_Missense_Mutation_p.A781T|MLLT4_ENST00000400822.3_Missense_Mutation_p.A780T|MLLT4_ENST00000392108.3_Missense_Mutation_p.A781T	p.A781T			P55196	AFAD_HUMAN		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)	18	2483	+		Breast(66;1.07e-05)|Ovarian(120;0.024)	781			Dilute.		O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Missense_Mutation	SNP	ENST00000447894.2	37	c.2341G>A		.	.	.	.	.	.	.	.	.	.	G	17.20	3.329136	0.60743	.	.	ENSG00000130396	ENST00000344191;ENST00000351017;ENST00000392108;ENST00000366806;ENST00000392112;ENST00000341575;ENST00000400822;ENST00000447894	T;T;T;T;T;T;T	0.05925	3.57;3.48;3.57;3.57;3.37;3.47;3.46	5.79	4.93	0.64822	Dilute (1);	0.132210	0.51477	N	0.000085	T	0.19805	0.0476	M	0.84846	2.72	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.992;0.999;0.994;0.994	T	0.03166	-1.1065	10	0.72032	D	0.01	-11.6067	14.8889	0.70590	0.0685:0.0:0.9314:0.0	.	781;780;781;765	P55196;P55196-5;P55196-6;P55196-2	AFAD_HUMAN;.;.;.	T	781;788;781;781;765;781;780;781	ENSP00000341118:A781T;ENSP00000252692:A788T;ENSP00000375956:A781T;ENSP00000355771:A781T;ENSP00000375960:A765T;ENSP00000383623:A780T;ENSP00000404595:A781T	ENSP00000345834:A781T	A	+	1	0	MLLT4	168058759	1.000000	0.71417	0.023000	0.16930	0.017000	0.09413	9.660000	0.98599	1.452000	0.47756	-0.145000	0.13849	GCC		0.537	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	NM_005936		4	59	0	0	0	1	0	4	59				
GPM6A	2823	broad.mit.edu	37	4	176733372	176733372	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr4:176733372C>T	ENST00000280187.7	-	2	52	c.7G>A	c.(7-9)Gag>Aag	p.E3K	GPM6A_ENST00000506894.1_Intron|GPM6A_ENST00000393658.2_Missense_Mutation_p.E3K|RP11-806K15.1_ENST00000514864.1_RNA	NM_005277.4	NP_005268.1	P51674	GPM6A_HUMAN	glycoprotein M6A	3					neural retina development (GO:0003407)|neuron migration (GO:0001764)|neuron projection morphogenesis (GO:0048812)|positive regulation of filopodium assembly (GO:0051491)|stem cell differentiation (GO:0048863)|synapse assembly (GO:0007416)	axonal growth cone (GO:0044295)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	calcium channel activity (GO:0005262)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)		TCCATATTCTCTTCCATGGCT	0.333																																						ENST00000280187.7																			0				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33						c.(7-9)Gag>Aag		glycoprotein M6A							194.0	197.0	196.0					4																	176733372		2202	4300	6502	SO:0001583	missense	2823					cell surface|integral to membrane		g.chr4:176733372C>T		CCDS3824.1, CCDS54822.1, CCDS58936.1	4q34	2008-08-29				ENSG00000150625			4460	protein-coding gene	gene with protein product		601275		GPM6		8661015, 18574501	Standard	NM_005277		Approved		uc003iug.4	P51674		ENST00000280187.7:c.7G>A	4.37:g.176733372C>T	ENSP00000280187:p.Glu3Lys					GPM6A_ENST00000393658.2_Missense_Mutation_p.E3K|GPM6A_ENST00000506894.1_Intron	p.E3K	NM_005277.4	NP_005268.1	P51674	GPM6A_HUMAN		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)	2	52	-		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	3					B7Z642|E9PHI5|Q92602	Missense_Mutation	SNP	ENST00000280187.7	37	c.7G>A	CCDS3824.1	.	.	.	.	.	.	.	.	.	.	C	16.60	3.167331	0.57476	.	.	ENSG00000150625	ENST00000280187;ENST00000393658;ENST00000513365;ENST00000503563	D;D;D	0.99277	-5.67;-5.67;-4.9	5.57	5.57	0.84162	.	0.326201	0.35708	N	0.003030	D	0.97455	0.9167	N	0.22421	0.69	0.80722	D	1	B	0.16603	0.018	B	0.16289	0.015	D	0.94135	0.7392	10	0.45353	T	0.12	.	19.9066	0.97010	0.0:1.0:0.0:0.0	.	3	P51674	GPM6A_HUMAN	K	3	ENSP00000280187:E3K;ENSP00000377268:E3K;ENSP00000423122:E3K	ENSP00000280187:E3K	E	-	1	0	GPM6A	176970366	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.610000	0.67668	2.779000	0.95612	0.655000	0.94253	GAG		0.333	GPM6A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362163.1			29	135	0	0	0	1	0	29	135				
GRIN3A	116443	broad.mit.edu	37	9	104357132	104357132	+	Intron	SNP	G	G	T			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr9:104357132G>T	ENST00000361820.3	-	7	3367				PPP3R2_ENST00000374806.1_Silent_p.G27G	NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A						calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	TAAACCTCCTGCCCAGCCTTT	0.562																																						ENST00000374806.1																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22						c.(79-81)ggC>ggA		protein phosphatase 3, regulatory subunit B, beta	Cyclosporine(DB00091)						66.0	70.0	68.0					9																	104357132		2203	4300	6503	SO:0001627	intron_variant	5535						calcium ion binding	g.chr9:104357132G>T		CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.2767-15490C>A	9.37:g.104357132G>T						GRIN3A_ENST00000361820.3_Intron	p.G27G	NM_147180.2	NP_671709.1	Q96LZ3	CANB2_HUMAN			1	151	-		Acute lymphoblastic leukemia(62;0.0527)	24			EF-hand 1.		B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Silent	SNP	ENST00000361820.3	37	c.81C>A	CCDS6758.1																																																																																				0.562	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1			27	89	1	0	9.39395e-14	1	9.90173e-14	27	89				
MLH3	27030	broad.mit.edu	37	14	75509149	75509149	+	Silent	SNP	G	G	A	rs149369905		TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr14:75509149G>A	ENST00000556740.1	-	2	3347	c.3312C>T	c.(3310-3312)agC>agT	p.S1104S	MLH3_ENST00000555671.1_Intron|MLH3_ENST00000544985.1_Silent_p.S99S|MLH3_ENST00000556257.1_Intron|MLH3_ENST00000355774.2_Silent_p.S1104S|MLH3_ENST00000238662.7_Silent_p.S1104S|MLH3_ENST00000380968.2_Silent_p.S50S			Q9UHC1	MLH3_HUMAN	mutL homolog 3	1104					ATP catabolic process (GO:0006200)|female meiosis I (GO:0007144)|male meiosis (GO:0007140)|mismatch repair (GO:0006298)|protein localization (GO:0008104)|reciprocal meiotic recombination (GO:0007131)|synaptonemal complex assembly (GO:0007130)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|mismatch repair complex (GO:0032300)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|mismatched DNA binding (GO:0030983)|satellite DNA binding (GO:0003696)|single-stranded DNA binding (GO:0003697)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		GAACAAGGTCGCTTCTAAAAG	0.413								Mismatch excision repair (MMR)																														ENST00000355774.2																			0				breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44						c.(3310-3312)agC>agT	Mismatch excision repair (MMR)	mutL homolog 3		G	,	0,4406		0,0,2203	129.0	123.0	125.0		3312,3312	0.8	1.0	14	dbSNP_134	125	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	MLH3	NM_001040108.1,NM_014381.2	,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,	1104/1454,1104/1430	75509149	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	27030				mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding	g.chr14:75509149G>A	AF195657	CCDS9837.1, CCDS32123.1	14q24.3	2014-09-17	2013-09-12			ENSG00000119684			7128	protein-coding gene	gene with protein product		604395	"""mutL (E. coli) homolog 3"", ""mutL homolog 3 (E. coli)"""			10615123	Standard	XR_245681		Approved		uc001xrd.1	Q9UHC1		ENST00000556740.1:c.3312C>T	14.37:g.75509149G>A						MLH3_ENST00000380968.2_Silent_p.S50S|MLH3_ENST00000556740.1_Silent_p.S1104S|MLH3_ENST00000556257.1_Intron|MLH3_ENST00000555671.1_Intron|MLH3_ENST00000238662.7_Silent_p.S1104S|MLH3_ENST00000544985.1_Silent_p.S99S	p.S1104S	NM_001040108.1	NP_001035197.1	Q9UHC1	MLH3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00688)	3	3527	-			1104					P49751|Q56DK9|Q9P292|Q9UHC0	Silent	SNP	ENST00000556740.1	37	c.3312C>T	CCDS32123.1																																																																																				0.413	MLH3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415006.1	NM_014381		19	94	0	0	0	1	0	19	94				
SLITRK5	26050	broad.mit.edu	37	13	88327756	88327756	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr13:88327756C>T	ENST00000325089.6	+	2	332	c.113C>T	c.(112-114)gCa>gTa	p.A38V	SLITRK5_ENST00000400028.3_Intron	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	38					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					CTTTCGTGTGCAGAAACCATC	0.468																																						ENST00000325089.6																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81						c.(112-114)gCa>gTa		SLIT and NTRK-like family, member 5							167.0	141.0	150.0					13																	88327756		2203	4300	6503	SO:0001583	missense	26050					integral to membrane		g.chr13:88327756C>T	AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"""leucine rich repeat containing 11"""	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.113C>T	13.37:g.88327756C>T	ENSP00000366283:p.Ala38Val					SLITRK5_ENST00000400028.3_Intron	p.A38V	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN			2	332	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		38					B3KNB8|B4DSH5|Q5VT81	Missense_Mutation	SNP	ENST00000325089.6	37	c.113C>T	CCDS9465.1	.	.	.	.	.	.	.	.	.	.	C	10.08	1.251728	0.22880	.	.	ENSG00000165300	ENST00000325089	T	0.57907	0.37	5.94	5.94	0.96194	.	0.271361	0.36134	N	0.002778	T	0.39600	0.1084	N	0.19112	0.55	0.80722	D	1	B	0.09022	0.002	B	0.09377	0.004	T	0.16778	-1.0391	9	.	.	.	-4.1742	17.8571	0.88767	0.0:1.0:0.0:0.0	.	38	O94991	SLIK5_HUMAN	V	38	ENSP00000366283:A38V	.	A	+	2	0	SLITRK5	87125757	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.611000	0.61162	2.826000	0.97356	0.561000	0.74099	GCA		0.468	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			19	68	0	0	0	1	0	19	68				
TAF7	6879	broad.mit.edu	37	5	140698574	140698574	+	Silent	SNP	G	G	C			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr5:140698574G>C	ENST00000313368.5	-	1	1756	c.1038C>G	c.(1036-1038)ctC>ctG	p.L346L		NM_005642.2	NP_005633.2	Q15545	TAF7_HUMAN	TAF7 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 55kDa	346					DNA-templated transcription, initiation (GO:0006352)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of histone acetylation (GO:0035067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermine transport (GO:0000296)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	Golgi apparatus (GO:0005794)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	histone acetyltransferase binding (GO:0035035)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|vitamin D receptor binding (GO:0042809)			central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTTCTCTAGGAGTGATTCTA	0.398																																						ENST00000313368.5																			0				central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12						c.(1036-1038)ctC>ctG		TAF7 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 55kDa							68.0	60.0	63.0					5																	140698574		2203	4299	6502	SO:0001819	synonymous_variant	6879				negative regulation of histone acetylation|negative regulation of protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|spermine transport|transcription initiation from RNA polymerase II promoter	Golgi apparatus|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	histone acetyltransferase binding|thyroid hormone receptor binding|transcription coactivator activity|transcription regulatory region DNA binding|vitamin D receptor binding	g.chr5:140698574G>C	AF349038	CCDS4259.1	5q31	2008-02-05	2002-08-29	2001-12-07	ENSG00000178913	ENSG00000178913			11541	protein-coding gene	gene with protein product		600573	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, F, 55kD"""	TAF2F		7824954	Standard	NM_005642		Approved	TAFII55	uc003ljg.3	Q15545	OTTHUMG00000129628	ENST00000313368.5:c.1038C>G	5.37:g.140698574G>C							p.L346L	NM_005642.2	NP_005633.2	Q15545	TAF7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1756	-			346					B2RBV9|Q13036	Silent	SNP	ENST00000313368.5	37	c.1038C>G	CCDS4259.1																																																																																				0.398	TAF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251823.2	NM_005642		10	6	0	0	0	1	0	10	6				
DYSF	8291	broad.mit.edu	37	2	71795468	71795468	+	Splice_Site	SNP	C	C	T	rs201209494		TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr2:71795468C>T	ENST00000258104.3	+	26	3087	c.2810C>T	c.(2809-2811)aCt>aTt	p.T937I	DYSF_ENST00000409582.3_Splice_Site_p.T954I|DYSF_ENST00000409762.1_Splice_Site_p.T954I|DYSF_ENST00000409744.1_Splice_Site_p.T924I|DYSF_ENST00000410020.3_Splice_Site_p.T955I|DYSF_ENST00000409651.1_Splice_Site_p.T969I|DYSF_ENST00000394120.2_Splice_Site_p.T938I|DYSF_ENST00000413539.2_Splice_Site_p.T968I|DYSF_ENST00000410041.1_Splice_Site_p.T955I|DYSF_ENST00000409366.1_Splice_Site_p.T938I|DYSF_ENST00000429174.2_Splice_Site_p.T937I	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	937					plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CCGGAGAAGACGTGAGTCGTG	0.632													C|||	1	0.000199681	0.0	0.0	5008	,	,		16096	0.0		0.001	False		,,,				2504	0.0					ENST00000258104.3																			0				autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						c.e26+1		dysferlin		C	ILE/THR,ILE/THR,ILE/THR,ILE/THR,ILE/THR,ILE/THR,ILE/THR,ILE/THR,ILE/THR,ILE/THR,ILE/THR,ILE/THR,ILE/THR,ILE/THR	1,4405	2.1+/-5.4	0,1,2202	152.0	164.0	160.0		2813,2768,2768,2810,2903,2861,2861,2906,2813,2771,2864,2771,2864,2810	4.9	1.0	2		160	0,8600		0,0,4300	yes	missense-near-splice,missense-near-splice,missense-near-splice,missense-near-splice,missense-near-splice,missense-near-splice,missense-near-splice,missense-near-splice,missense-near-splice,missense-near-splice,missense-near-splice,missense-near-splice,missense-near-splice,missense-near-splice	DYSF	NM_001130455.1,NM_001130976.1,NM_001130977.1,NM_001130978.1,NM_001130979.1,NM_001130980.1,NM_001130981.1,NM_001130982.1,NM_001130983.1,NM_001130984.1,NM_001130985.1,NM_001130986.1,NM_001130987.1,NM_003494.3	89,89,89,89,89,89,89,89,89,89,89,89,89,89	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	938/2082,923/2067,923/2088,937/2102,968/2112,954/2098,954/2119,969/2113,938/2103,924/2089,955/2099,924/2068,955/2120,937/2081	71795468	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71795468C>T	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.2810+1C>T	2.37:g.71795468C>T						DYSF_ENST00000409744.1_Splice_Site_p.T924_splice|DYSF_ENST00000429174.2_Splice_Site_p.T937_splice|DYSF_ENST00000409651.1_Splice_Site_p.T969_splice|DYSF_ENST00000413539.2_Splice_Site_p.T968_splice|DYSF_ENST00000410041.1_Splice_Site_p.T955_splice|DYSF_ENST00000410020.3_Splice_Site_p.T955_splice|DYSF_ENST00000409582.3_Splice_Site_p.T954_splice|DYSF_ENST00000409366.1_Splice_Site_p.T938_splice|DYSF_ENST00000394120.2_Splice_Site_p.T938_splice|DYSF_ENST00000409762.1_Splice_Site_p.T954_splice	p.T937_splice	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN			26	3087	+			937					A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Splice_Site	SNP	ENST00000258104.3	37	c.2810_splice	CCDS1918.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	20.5	4.008579	0.75046	2.27E-4	0.0	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	D;D;D;D;D;D;D;D;D;D;D	0.83335	-1.7;-1.71;-1.71;-1.71;-1.7;-1.7;-1.7;-1.71;-1.7;-1.71;-1.71	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	D	0.87450	0.6180	L	0.41236	1.265	0.46096	D	0.998861	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.998;0.986;0.998;0.996;1.0;0.993;1.0;1.0;1.0;1.0	D;D;D;D;P;P;P;P;D;P;D;D;D;D	0.97110	1.0;0.999;1.0;0.999;0.902;0.8;0.902;0.902;1.0;0.726;0.987;1.0;1.0;1.0	D	0.88754	0.3252	10	0.72032	D	0.01	-27.4564	15.7098	0.77615	0.0:1.0:0.0:0.0	.	969;955;938;924;955;924;954;923;968;954;937;923;938;937	O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	I	968;954;954;937;937;969;938;924;938;955;955	ENSP00000407046:T968I;ENSP00000387137:T954I;ENSP00000386547:T954I;ENSP00000398305:T937I;ENSP00000258104:T937I;ENSP00000386683:T969I;ENSP00000377678:T938I;ENSP00000386285:T924I;ENSP00000386512:T938I;ENSP00000386881:T955I;ENSP00000386617:T955I	ENSP00000258104:T937I	T	+	2	0	DYSF	71648976	1.000000	0.71417	1.000000	0.80357	0.806000	0.45545	4.668000	0.61568	2.298000	0.77334	0.462000	0.41574	ACT		0.632	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494	Missense_Mutation	78	290	0	0	0	1	0	78	290				
INPP4A	3631	broad.mit.edu	37	2	99156097	99156097	+	Silent	SNP	C	C	A			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr2:99156097C>A	ENST00000523221.1	+	8	777	c.777C>A	c.(775-777)ccC>ccA	p.P259P	INPP4A_ENST00000409016.4_Silent_p.P259P|INPP4A_ENST00000409851.3_Silent_p.P259P|INPP4A_ENST00000409540.3_Silent_p.P259P|INPP4A_ENST00000074304.5_Silent_p.P259P|INPP4A_ENST00000545415.1_Silent_p.P259P|INPP4A_ENST00000409463.1_Intron			Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa	259					inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)			breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						TGCACGTGCCCCGGCAGTTCG	0.567																																						ENST00000074304.5																			0				breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						c.(775-777)ccC>ccA		inositol polyphosphate-4-phosphatase, type I, 107kDa							71.0	70.0	70.0					2																	99156097		2155	4257	6412	SO:0001819	synonymous_variant	3631				signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	g.chr2:99156097C>A	U26398	CCDS46369.1, CCDS46370.1, CCDS46371.1, CCDS46372.1	2q11.2	2008-05-27	2002-08-29		ENSG00000040933	ENSG00000040933			6074	protein-coding gene	gene with protein product		600916	"""inositol polyphosphate-4-phosphatase, type I, 107kD"""	INPP4		7608176, 9295334	Standard	NM_004027		Approved		uc002syy.3	Q96PE3	OTTHUMG00000153106	ENST00000523221.1:c.777C>A	2.37:g.99156097C>A						INPP4A_ENST00000409851.3_Silent_p.P259P|INPP4A_ENST00000409463.1_Intron|INPP4A_ENST00000545415.1_Silent_p.P259P|INPP4A_ENST00000409016.3_Silent_p.P259P|INPP4A_ENST00000523221.1_Silent_p.P259P|INPP4A_ENST00000409540.3_Silent_p.P259P	p.P259P	NM_001134224.1	NP_001127696.1	Q96PE3	INP4A_HUMAN			10	1170	+			259					O15326|Q13187|Q53TD8|Q8TC02	Silent	SNP	ENST00000523221.1	37	c.777C>A	CCDS46369.1																																																																																				0.567	INPP4A-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376095.1	NM_001566		11	42	1	0	1.58986e-06	1	1.61051e-06	11	42				
AVL9	23080	broad.mit.edu	37	7	32598541	32598541	+	Splice_Site	SNP	G	G	C			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr7:32598541G>C	ENST00000318709.4	+	10	901	c.680G>C	c.(679-681)gGc>gCc	p.G227A	AVL9_ENST00000409301.1_Splice_Site_p.G227A|AVL9_ENST00000404479.1_Splice_Site_p.G227A	NM_015060.1	NP_055875.1	Q8NBF6	AVL9_HUMAN	AVL9 homolog (S. cerevisiase)	227					cell migration (GO:0016477)	integral component of membrane (GO:0016021)|recycling endosome (GO:0055037)				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						CATATTTTAGGCATGATTGAA	0.373																																						ENST00000318709.4																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.e10-1		AVL9 homolog (S. cerevisiase)							70.0	71.0	71.0					7																	32598541		2203	4300	6503	SO:0001630	splice_region_variant	23080					integral to membrane		g.chr7:32598541G>C	D87682	CCDS34613.1	7p14.3	2013-05-01	2008-10-03	2008-10-03	ENSG00000105778	ENSG00000105778			28994	protein-coding gene	gene with protein product		612927	"""KIAA0241"""	KIAA0241		17229886, 22595670	Standard	XM_005249668		Approved		uc003tcv.1	Q8NBF6	OTTHUMG00000152929	ENST00000318709.4:c.680-1G>C	7.37:g.32598541G>C						AVL9_ENST00000409301.1_Splice_Site_p.G227_splice|AVL9_ENST00000404479.1_Splice_Site_p.G227_splice	p.G227_splice	NM_015060.1	NP_055875.1	Q8NBF6	AVL9_HUMAN			10	901	+			227					Q92573	Splice_Site	SNP	ENST00000318709.4	37	c.679_splice	CCDS34613.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.232318	0.79688	.	.	ENSG00000105778	ENST00000318709;ENST00000409301;ENST00000329714;ENST00000404479;ENST00000446718	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.66982	0.2845	M	0.78916	2.43	0.80722	D	1	D;D;D	0.89917	1.0;0.979;1.0	D;P;D	0.97110	1.0;0.882;1.0	T	0.67726	-0.5596	9	.	.	.	.	18.7797	0.91926	0.0:0.0:1.0:0.0	.	227;227;227	Q8N6Z3;Q8NBF6-2;Q8NBF6	.;.;AVL9_HUMAN	A	227;227;227;227;158	ENSP00000315568:G227A;ENSP00000387011:G227A;ENSP00000385242:G227A;ENSP00000395134:G158A	.	G	+	2	0	AVL9	32565066	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	9.138000	0.94501	2.677000	0.91161	0.591000	0.81541	GGC		0.373	AVL9-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328643.1	NM_015060	Missense_Mutation	31	47	0	0	0	1	0	31	47				
GGT3P	2679	broad.mit.edu	37	22	18769203	18769203	+	RNA	SNP	G	G	A	rs111245818	byFrequency	TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr22:18769203G>A	ENST00000412448.1	-	0	1083							A6NGU5	GGT3_HUMAN	gamma-glutamyltransferase 3 pseudogene						glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)										AGCCAGCCGCGGCAGGGTCAG	0.637													g|||	253	0.0505192	0.0068	0.0908	5008	,	,		47818	0.0079		0.1213	False		,,,				2504	0.0521					ENST00000412448.1																			0																																																			2679							g.chr22:18769203G>A			22q11.21	2008-08-05	2008-03-10	2008-03-10	ENSG00000197421	ENSG00000197421		"""Gamma-glutamyltransferases"""	4252	pseudogene	pseudogene			"""gamma-glutamyltransferase 3"""	GGT3		8104871, 18357469	Standard	NR_003267		Approved		uc002zob.1	A6NGU5	OTTHUMG00000150161		22.37:g.18769203G>A														0	1083	-									RNA	SNP	ENST00000412448.1	37																																																																																						0.637	GGT3P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341281.1	NR_003267		6	34	0	0	0	1	0	6	34				
VGF	7425	broad.mit.edu	37	7	100807317	100807317	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr7:100807317G>A	ENST00000249330.2	-	2	1047	c.808C>T	c.(808-810)Caa>Taa	p.Q270*	VGF_ENST00000445482.2_Nonsense_Mutation_p.Q270*	NM_003378.3	NP_003369.2	O15240	VGF_HUMAN	VGF nerve growth factor inducible	270					defense response to bacterium (GO:0042742)|generation of precursor metabolites and energy (GO:0006091)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|ovarian follicle development (GO:0001541)|response to cAMP (GO:0051591)|response to cold (GO:0009409)|response to dietary excess (GO:0002021)|response to insulin (GO:0032868)|sexual reproduction (GO:0019953)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)				cervix(1)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	9	Lung NSC(181;0.168)|all_lung(186;0.215)					GCCACGCCTTGGTACGCCTTG	0.701																																						ENST00000249330.2																			0				cervix(1)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	9						c.(808-810)Caa>Taa		VGF nerve growth factor inducible							14.0	18.0	16.0					7																	100807317		2032	4197	6229	SO:0001587	stop_gained	7425				response to cAMP	extracellular space|transport vesicle	growth factor activity	g.chr7:100807317G>A	Y12661	CCDS5712.1	7q22	2008-07-18			ENSG00000128564	ENSG00000128564			12684	protein-coding gene	gene with protein product	"""neuro-endocrine specific protein VGF"""	602186				9344675	Standard	NM_003378		Approved		uc003uxx.4	O15240	OTTHUMG00000157109	ENST00000249330.2:c.808C>T	7.37:g.100807317G>A	ENSP00000249330:p.Gln270*					VGF_ENST00000445482.2_Nonsense_Mutation_p.Q270*	p.Q270*	NM_003378.3	NP_003369.2	O15240	VGF_HUMAN			2	1047	-	Lung NSC(181;0.168)|all_lung(186;0.215)		270					Q9UDW8	Nonsense_Mutation	SNP	ENST00000249330.2	37	c.808C>T	CCDS5712.1	.	.	.	.	.	.	.	.	.	.	G	36	5.642389	0.96704	.	.	ENSG00000128564	ENST00000249330;ENST00000448792;ENST00000445482	.	.	.	4.24	3.33	0.38152	.	0.113736	0.34580	N	0.003845	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-0.5492	9.7194	0.40293	0.0:0.2112:0.7888:0.0	.	.	.	.	X	270	.	ENSP00000249330:Q270X	Q	-	1	0	VGF	100594037	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	2.307000	0.43682	0.969000	0.38237	0.561000	0.74099	CAA		0.701	VGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347462.1	NM_003378		6	24	0	0	0	1	0	6	24				
SPTBN1	6711	broad.mit.edu	37	2	54856171	54856171	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr2:54856171C>A	ENST00000356805.4	+	14	2181	c.1900C>A	c.(1900-1902)Ctg>Atg	p.L634M	SPTBN1_ENST00000333896.5_Missense_Mutation_p.L621M	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	634					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			CAGGGCCCGTCTGGAAGAGTC	0.597																																						ENST00000333896.5																			0				NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82						c.(1861-1863)Ctg>Atg		spectrin, beta, non-erythrocytic 1							56.0	65.0	62.0					2																	54856171		2202	4300	6502	SO:0001583	missense	6711				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	g.chr2:54856171C>A		CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"""Pleckstrin homology (PH) domain containing"""	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.1900C>A	2.37:g.54856171C>A	ENSP00000349259:p.Leu634Met					SPTBN1_ENST00000356805.4_Missense_Mutation_p.L634M	p.L621M	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	Lung(47;0.24)		13	2246	+			634					B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Missense_Mutation	SNP	ENST00000356805.4	37	c.1861C>A	CCDS33198.1	.	.	.	.	.	.	.	.	.	.	C	17.93	3.508631	0.64410	.	.	ENSG00000115306	ENST00000356805;ENST00000389980;ENST00000333896	D;D;D	0.83419	-1.72;-1.72;-1.72	5.61	4.72	0.59763	.	0.077498	0.52532	D	0.000065	D	0.92283	0.7552	M	0.93241	3.395	0.44515	D	0.99746	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.92782	0.6241	10	0.87932	D	0	.	9.3675	0.38234	0.0:0.7545:0.1319:0.1136	.	621;634	Q01082-3;Q01082	.;SPTB2_HUMAN	M	634;634;621	ENSP00000349259:L634M;ENSP00000374630:L634M;ENSP00000334156:L621M	ENSP00000334156:L621M	L	+	1	2	SPTBN1	54709675	0.943000	0.32029	0.947000	0.38551	0.997000	0.91878	2.055000	0.41345	1.346000	0.45694	0.655000	0.94253	CTG		0.597	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3			53	110	1	0	1.13709e-37	1	1.21497e-37	53	110				
CCDC150	284992	broad.mit.edu	37	2	197597245	197597245	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr2:197597245C>T	ENST00000389175.4	+	28	3400	c.3265C>T	c.(3265-3267)Ccc>Tcc	p.P1089S	CCDC150_ENST00000409270.1_Missense_Mutation_p.P576S|CCDC150_ENST00000272831.7_Missense_Mutation_p.P736S	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	1089										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						GAATCTTAGGCCCATGCCCAA	0.443																																						ENST00000389175.4																			0				breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(3265-3267)Ccc>Tcc		coiled-coil domain containing 150							213.0	197.0	202.0					2																	197597245		1970	4164	6134	SO:0001583	missense	284992							g.chr2:197597245C>T		CCDS46478.1	2q33.1	2008-04-10			ENSG00000144395	ENSG00000144395			26834	protein-coding gene	gene with protein product							Standard	NM_001080539		Approved	FLJ39660	uc002utp.1	Q8NCX0	OTTHUMG00000154475	ENST00000389175.4:c.3265C>T	2.37:g.197597245C>T	ENSP00000373827:p.Pro1089Ser					CCDC150_ENST00000409270.1_Missense_Mutation_p.P576S|CCDC150_ENST00000272831.7_Missense_Mutation_p.P736S	p.P1089S	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN			28	3400	+			1089					Q6P5U6|Q6P663|Q8N8V5	Missense_Mutation	SNP	ENST00000389175.4	37	c.3265C>T	CCDS46478.1	.	.	.	.	.	.	.	.	.	.	C	1.629	-0.519386	0.04171	.	.	ENSG00000144395	ENST00000272831;ENST00000389175;ENST00000409270	T	0.39997	1.05	5.16	-2.15	0.07102	.	1.156280	0.06539	N	0.742920	T	0.19765	0.0475	N	0.08118	0	0.09310	N	1	B;B	0.25351	0.124;0.124	B;B	0.25987	0.065;0.065	T	0.22312	-1.0220	10	0.19590	T	0.45	.	5.1897	0.15203	0.1428:0.3164:0.0:0.5407	.	736;1089	B4DZ03;Q8NCX0	.;CC150_HUMAN	S	736;1089;576	ENSP00000373827:P1089S	ENSP00000272831:P736S	P	+	1	0	CCDC150	197305490	0.000000	0.05858	0.000000	0.03702	0.041000	0.13682	-0.274000	0.08537	-0.439000	0.07222	-0.142000	0.14014	CCC		0.443	CCDC150-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335377.2	NM_001080539		31	119	0	0	0	1	0	31	119				
CBLB	868	broad.mit.edu	37	3	105572430	105572430	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr3:105572430G>A	ENST00000264122.4	-	3	568	c.247C>T	c.(247-249)Cag>Tag	p.Q83*	CBLB_ENST00000403724.1_Nonsense_Mutation_p.Q83*|CBLB_ENST00000394027.3_Nonsense_Mutation_p.Q105*|CBLB_ENST00000545639.1_Nonsense_Mutation_p.Q105*|CBLB_ENST00000405772.1_Nonsense_Mutation_p.Q83*	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	83	4H.|Cbl-PTB. {ECO:0000255|PROSITE- ProRule:PRU00839}.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|negative regulation of T cell receptor signaling pathway (GO:0050860)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of T cell anergy (GO:0002669)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						CGTAAATGCTGATATGTATCA	0.318			Mis S		AML																																GBM(93;588 1337 9788 29341 43499)	ENST00000264122.4				Rec	yes		3	3q13.11	868	Mis S	Cas-Br-M (murine) ecotropic retroviral transforming sequence b			L			AML		0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						c.(247-249)Cag>Tag		Cbl proto-oncogene B, E3 ubiquitin protein ligase							114.0	111.0	112.0					3																	105572430		2202	4298	6500	SO:0001587	stop_gained	868				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding	g.chr3:105572430G>A	U26710	CCDS2948.1	3q	2013-07-09	2013-07-09		ENSG00000114423	ENSG00000114423		"""RING-type (C3HC4) zinc fingers"""	1542	protein-coding gene	gene with protein product		604491	"""Cas-Br-M (murine) ectropic retroviral transforming sequence b"", ""Cas-Br-M (murine) ecotropic retroviral transforming sequence b"""			7784085	Standard	XM_005247853		Approved	RNF56, Cbl-b	uc003dwc.3	Q13191	OTTHUMG00000150654	ENST00000264122.4:c.247C>T	3.37:g.105572430G>A	ENSP00000264122:p.Gln83*					CBLB_ENST00000405772.1_Nonsense_Mutation_p.Q83*|CBLB_ENST00000394027.3_Nonsense_Mutation_p.Q105*|CBLB_ENST00000545639.1_Nonsense_Mutation_p.Q105*|CBLB_ENST00000403724.1_Nonsense_Mutation_p.Q83*	p.Q83*	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN			3	568	-			83			4H.|Cbl-PTB.		A8K9S7|B7WNM4|Q13192|Q13193|Q3LIC0|Q63Z43|Q8IVC5	Nonsense_Mutation	SNP	ENST00000264122.4	37	c.247C>T	CCDS2948.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.323455	0.81580	.	.	ENSG00000114423	ENST00000264122;ENST00000394027;ENST00000403724;ENST00000405772;ENST00000545639;ENST00000438603;ENST00000447441;ENST00000443752	.	.	.	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-13.3021	19.5032	0.95104	0.0:0.0:1.0:0.0	.	.	.	.	X	83;105;83;83;105;105;83;83	.	ENSP00000264122:Q83X	Q	-	1	0	CBLB	107055120	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.597000	0.98273	2.600000	0.87896	0.561000	0.74099	CAG		0.318	CBLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319417.2	NM_170662		18	59	0	0	0	1	0	18	59				
SUPT3H	8464	broad.mit.edu	37	6	45073695	45073695	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr6:45073695C>A	ENST00000371459.1	-	3	315	c.150G>T	c.(148-150)ttG>ttT	p.L50F	SUPT3H_ENST00000371461.2_Missense_Mutation_p.L61F|SUPT3H_ENST00000306867.5_Missense_Mutation_p.L50F|SUPT3H_ENST00000371460.1_Missense_Mutation_p.L61F	NM_001261823.1|NM_003599.3	NP_001248752.1|NP_003590.1	O75486	SUPT3_HUMAN	suppressor of Ty 3 homolog (S. cerevisiae)	132					chromatin organization (GO:0006325)|histone deubiquitination (GO:0016578)|histone H3 acetylation (GO:0043966)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	transcription coactivator activity (GO:0003713)			breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	12						CATCTTCTACCAAAACTGCTG	0.333																																						ENST00000371460.1																			0				breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	12						c.(181-183)ttG>ttT		suppressor of Ty 3 homolog (S. cerevisiae)							125.0	120.0	122.0					6																	45073695		2203	4300	6503	SO:0001583	missense	8464				histone deubiquitination|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	STAGA complex|transcription factor TFTC complex	DNA binding|transcription coactivator activity	g.chr6:45073695C>A	AF069734	CCDS34465.1, CCDS34466.1, CCDS75464.1	6p21.1-p12.3	2008-05-15	2001-11-28		ENSG00000196284	ENSG00000196284			11466	protein-coding gene	gene with protein product		602947	"""suppressor of Ty (S.cerevisiae) 3 homolog"""			9674425, 9726987	Standard	NM_003599		Approved	SPT3, SPT3L	uc003oxp.4	O75486	OTTHUMG00000014773	ENST00000371459.1:c.150G>T	6.37:g.45073695C>A	ENSP00000360514:p.Leu50Phe					SUPT3H_ENST00000371459.1_Missense_Mutation_p.L50F|SUPT3H_ENST00000306867.5_Missense_Mutation_p.L50F|SUPT3H_ENST00000371461.2_Missense_Mutation_p.L61F	p.L61F	NM_181356.2	NP_852001.1	O75486	SUPT3_HUMAN			5	500	-			132					A6NKG9|B2R9Q5|O76066|Q5TAV9|Q86VN7	Missense_Mutation	SNP	ENST00000371459.1	37	c.183G>T	CCDS34465.1	.	.	.	.	.	.	.	.	.	.	C	19.32	3.804094	0.70682	.	.	ENSG00000196284	ENST00000371460;ENST00000371459;ENST00000306867;ENST00000371461	T;T;T;T	0.61274	0.12;0.41;0.41;0.12	5.31	4.43	0.53597	Histone-fold (2);	0.000000	0.64402	D	0.000002	T	0.68384	0.2995	M	0.80028	2.48	0.42544	D	0.993088	D;D	0.71674	0.996;0.998	D;D	0.65874	0.931;0.939	T	0.72431	-0.4296	10	0.72032	D	0.01	.	11.6899	0.51510	0.0:0.9168:0.0:0.0832	.	61;132	O75486-3;O75486	.;SUPT3_HUMAN	F	61;50;50;61	ENSP00000360515:L61F;ENSP00000360514:L50F;ENSP00000306718:L50F;ENSP00000360516:L61F	ENSP00000306718:L50F	L	-	3	2	SUPT3H	45181673	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.664000	0.25068	2.631000	0.89168	0.655000	0.94253	TTG		0.333	SUPT3H-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106911.2	NM_181356		12	63	1	0	5.50884e-06	1	5.50884e-06	12	63				
IMPG1	3617	broad.mit.edu	37	6	76744433	76744433	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr6:76744433C>G	ENST00000369950.3	-	3	562	c.373G>C	c.(373-375)Gac>Cac	p.D125H	IMPG1_ENST00000369963.3_Missense_Mutation_p.D47H	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2			interphotoreceptor matrix proteoglycan 1											breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				CTGACCCAGTCCTGATATTCC	0.498																																					Pancreas(37;839 1141 2599 26037)	ENST00000369963.3																			0				breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(139-141)Gac>Cac		interphotoreceptor matrix proteoglycan 1							109.0	97.0	101.0					6																	76744433		2203	4300	6503	SO:0001583	missense	3617				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity	g.chr6:76744433C>G	AF017776	CCDS4985.1, CCDS75483.1	6q14.2-q15	2008-02-05	2004-05-25		ENSG00000112706	ENSG00000112706			6055	protein-coding gene	gene with protein product		602870	"""sialoprotein associated with cones and rods"""	SPACR			Standard	NM_001282368		Approved	IPM150, GP147	uc003pik.1	Q17R60	OTTHUMG00000015063	ENST00000369950.3:c.373G>C	6.37:g.76744433C>G	ENSP00000358966:p.Asp125His					IMPG1_ENST00000369950.3_Missense_Mutation_p.D125H	p.D47H			Q17R60	IMPG1_HUMAN			2	328	-		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)	125						Missense_Mutation	SNP	ENST00000369950.3	37	c.139G>C	CCDS4985.1	.	.	.	.	.	.	.	.	.	.	C	11.16	1.555808	0.27827	.	.	ENSG00000112706	ENST00000369950;ENST00000369963	T;T	0.77620	-1.03;-1.11	5.77	-0.103	0.13609	.	0.429811	0.23738	N	0.045059	T	0.42988	0.1227	L	0.45698	1.435	0.09310	N	0.999997	B	0.30584	0.286	B	0.23716	0.048	T	0.28267	-1.0049	9	.	.	.	.	5.1811	0.15160	0.0:0.2197:0.1766:0.6036	.	125	Q17R60	IMPG1_HUMAN	H	125;47	ENSP00000358966:D125H;ENSP00000358980:D47H	.	D	-	1	0	IMPG1	76801153	0.314000	0.24563	0.990000	0.47175	0.833000	0.47200	0.089000	0.15002	0.041000	0.15688	0.557000	0.71058	GAC		0.498	IMPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041288.1	NM_001563		19	64	0	0	0	1	0	19	64				
SYNRG	11276	broad.mit.edu	37	17	35879063	35879063	+	Missense_Mutation	SNP	C	C	G	rs145948376		TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr17:35879063C>G	ENST00000339208.6	-	22	4065	c.3925G>C	c.(3925-3927)Gtc>Ctc	p.V1309L	SYNRG_ENST00000394378.2_Missense_Mutation_p.V1254L|SYNRG_ENST00000346661.4_Missense_Mutation_p.V1297L|SYNRG_ENST00000585472.1_Missense_Mutation_p.V1230L|SYNRG_ENST00000345615.4_Missense_Mutation_p.V1219L|SYNRG_ENST00000591288.1_Missense_Mutation_p.V1103L|SYNRG_ENST00000502449.2_Missense_Mutation_p.V1174L	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	1309					endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)	AP-1 adaptor complex (GO:0030121)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TCAGGCAGGACGAGGCCAGGA	0.512																																						ENST00000339208.6																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(3925-3927)Gtc>Ctc		synergin, gamma							184.0	177.0	179.0					17																	35879063		2203	4300	6503	SO:0001583	missense	11276				endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding	g.chr17:35879063C>G	AF169548	CCDS11321.1, CCDS11322.1, CCDS11322.2, CCDS54113.1, CCDS54114.1, CCDS59284.1, CCDS59285.1	17q12	2014-04-16	2009-07-20	2009-07-20	ENSG00000006114	ENSG00000275066			557	protein-coding gene	gene with protein product	"""gamma-synergin"", ""adaptor-related protein complex 1 gamma subunit-binding protein 1"""	607291	"""AP1 gamma subunit binding protein 1"""	AP1GBP1		10477754	Standard	XM_005256980		Approved	SYNG, MGC104959	uc010wdf.2	Q9UMZ2	OTTHUMG00000188473	ENST00000339208.6:c.3925G>C	17.37:g.35879063C>G	ENSP00000343610:p.Val1309Leu					SYNRG_ENST00000502449.2_Missense_Mutation_p.V1174L|SYNRG_ENST00000346661.4_Missense_Mutation_p.V1297L|SYNRG_ENST00000345615.4_Missense_Mutation_p.V1219L|SYNRG_ENST00000394378.2_Missense_Mutation_p.V1254L|SYNRG_ENST00000585472.1_Missense_Mutation_p.V1230L|SYNRG_ENST00000591288.1_Missense_Mutation_p.V1103L	p.V1309L	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN			22	4065	-			1309					A8MWU4|B7ZKZ2|B7ZKZ3|Q17RI2|Q5BKU5|Q6ZT17	Missense_Mutation	SNP	ENST00000339208.6	37	c.3925G>C	CCDS11321.1	.	.	.	.	.	.	.	.	.	.	C	12.99	2.104413	0.37145	.	.	ENSG00000006114	ENST00000346661;ENST00000339208;ENST00000345615;ENST00000502449;ENST00000394378	T	0.40476	1.03	5.44	0.52	0.17040	.	0.247253	0.38837	N	0.001548	T	0.13329	0.0323	N	0.01352	-0.895	0.22581	N	0.998969	B;B;B;B;B;B	0.19331	0.016;0.035;0.035;0.005;0.013;0.013	B;B;B;B;B;B	0.20955	0.019;0.017;0.032;0.007;0.021;0.021	T	0.21759	-1.0236	10	0.30854	T	0.27	-2.9211	6.1733	0.20429	0.0:0.1943:0.3727:0.433	.	1103;1231;1254;1219;1297;1309	B7ZKZ2;Q9UMZ2-3;A8MWU4;Q9UMZ2-4;Q9UMZ2-5;Q9UMZ2	.;.;.;.;.;SYNRG_HUMAN	L	1309;1103;1297;1219;1254	ENSP00000377903:V1254L	ENSP00000343610:V1103L	V	-	1	0	SYNRG	32953176	1.000000	0.71417	0.933000	0.37362	0.798000	0.45092	1.830000	0.39131	-0.160000	0.11002	-0.982000	0.02568	GTC		0.512	SYNRG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256811.2	NM_007247		61	193	0	0	0	1	0	61	193				
PLCB3	5331	broad.mit.edu	37	11	64033987	64033987	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr11:64033987G>A	ENST00000540288.1	+	29	3480	c.3377G>A	c.(3376-3378)cGt>cAt	p.R1126H	PLCB3_ENST00000279230.6_Missense_Mutation_p.R1126H|PLCB3_ENST00000325234.5_Missense_Mutation_p.R1059H	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	1126					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|regulation of systemic arterial blood pressure (GO:0003073)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						GAGATTAACCGTCGGCACATC	0.642																																						ENST00000540288.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						c.(3376-3378)cGt>cAt		phospholipase C, beta 3 (phosphatidylinositol-specific)							112.0	100.0	104.0					11																	64033987		2201	4297	6498	SO:0001583	missense	5331				intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr11:64033987G>A	Z26649	CCDS8064.1, CCDS53654.1	11q13	2008-03-18			ENSG00000149782	ENSG00000149782	3.1.4.11		9056	protein-coding gene	gene with protein product		600230				7849701	Standard	NM_000932		Approved		uc009ypg.2	Q01970	OTTHUMG00000167816	ENST00000540288.1:c.3377G>A	11.37:g.64033987G>A	ENSP00000443631:p.Arg1126His					PLCB3_ENST00000325234.5_Missense_Mutation_p.R1059H|PLCB3_ENST00000279230.6_Missense_Mutation_p.R1126H	p.R1126H	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN			29	3480	+			1126					A5PKZ6|G5E960|Q8N1A4	Missense_Mutation	SNP	ENST00000540288.1	37	c.3377G>A	CCDS8064.1	.	.	.	.	.	.	.	.	.	.	G	32	5.119397	0.94385	.	.	ENSG00000149782	ENST00000279230;ENST00000540288;ENST00000325234	T;T;T	0.52983	0.64;0.64;0.64	4.83	4.83	0.62350	PLC-beta, C-terminal (1);	0.262266	0.35436	N	0.003217	T	0.67401	0.2889	M	0.65498	2.005	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.993	T	0.70099	-0.4965	10	0.62326	D	0.03	.	16.8406	0.85967	0.0:0.0:1.0:0.0	.	1059;1126	G5E960;Q01970	.;PLCB3_HUMAN	H	1126;1126;1059	ENSP00000279230:R1126H;ENSP00000443631:R1126H;ENSP00000324660:R1059H	ENSP00000279230:R1126H	R	+	2	0	PLCB3	63790563	1.000000	0.71417	0.990000	0.47175	0.977000	0.68977	4.901000	0.63259	2.523000	0.85059	0.555000	0.69702	CGT		0.642	PLCB3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396405.1			14	63	0	0	0	1	0	14	63				
SREK1IP1	285672	broad.mit.edu	37	5	64020217	64020217	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr5:64020217T>G	ENST00000513458.4	-	5	629	c.462A>C	c.(460-462)agA>agC	p.R154S		NM_173829.3	NP_776190.1	Q8N9Q2	SR1IP_HUMAN	SREK1-interacting protein 1	154					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)		nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(3)|ovary(1)	6						TCAGTTACTTTCTGGAGAATT	0.299																																						ENST00000513458.4																			0				breast(1)|endometrium(1)|large_intestine(3)|ovary(1)	6						c.(460-462)agA>agC		SREK1-interacting protein 1							35.0	36.0	35.0					5																	64020217		2203	4296	6499	SO:0001583	missense	285672				mRNA processing|RNA splicing		nucleic acid binding|zinc ion binding	g.chr5:64020217T>G	AK094073	CCDS34171.1	5q12.3	2010-09-20	2010-09-20	2010-09-20	ENSG00000153006	ENSG00000153006			26716	protein-coding gene	gene with protein product	"""p18 splicing regulatory protein"""		"""SFRS12-interacting protein 1"""	SFRS12IP1		15456940	Standard	NM_173829		Approved	FLJ36754, P18SRP	uc003jtk.3	Q8N9Q2	OTTHUMG00000162291	ENST00000513458.4:c.462A>C	5.37:g.64020217T>G	ENSP00000427401:p.Arg154Ser						p.R154S	NM_173829.3	NP_776190.1	Q8N9Q2	SR1IP_HUMAN			5	629	-			154					Q32NC8	Missense_Mutation	SNP	ENST00000513458.4	37	c.462A>C	CCDS34171.1	.	.	.	.	.	.	.	.	.	.	T	14.49	2.550548	0.45383	.	.	ENSG00000153006	ENST00000513458	.	.	.	5.22	2.93	0.34026	.	0.576202	0.19013	N	0.125032	T	0.15349	0.0370	N	0.03608	-0.345	0.25664	N	0.985962	B	0.09022	0.002	B	0.12156	0.007	T	0.12682	-1.0538	9	0.72032	D	0.01	-7.6942	5.4279	0.16436	0.0:0.2294:0.0:0.7706	.	154	Q8N9Q2	SR1IP_HUMAN	S	154	.	ENSP00000427401:R154S	R	-	3	2	SREK1IP1	64055973	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	0.800000	0.27042	1.126000	0.42016	0.533000	0.62120	AGA		0.299	SREK1IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368457.4	NM_173829		15	14	0	0	0	1	0	15	14				
FCN3	8547	broad.mit.edu	37	1	27699998	27699998	+	Silent	SNP	G	G	A			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr1:27699998G>A	ENST00000270879.4	-	4	251	c.246C>T	c.(244-246)aaC>aaT	p.N82N	FCN3_ENST00000354982.2_Intron	NM_003665.2	NP_003656.2	O75636	FCN3_HUMAN	ficolin (collagen/fibrinogen domain containing) 3	82					complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	7		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;1.42e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00128)|KIRC - Kidney renal clear cell carcinoma(1967;0.00155)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		ACCGGAGCAGGTTCACTGGAT	0.607																																						ENST00000270879.4																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	7						c.(244-246)aaC>aaT		ficolin (collagen/fibrinogen domain containing) 3							76.0	64.0	68.0					1																	27699998		2203	4300	6503	SO:0001819	synonymous_variant	8547				complement activation, lectin pathway|signal transduction	collagen|extracellular space	receptor binding|sugar binding	g.chr1:27699998G>A	D88587	CCDS300.1, CCDS301.1	1p36.11	2014-09-17	2013-09-12		ENSG00000142748	ENSG00000142748		"""Fibrinogen C domain containing"""	3625	protein-coding gene	gene with protein product	"""Hakata antigen"""	604973	"""ficolin (collagen/fibrinogen domain-containing) 3 (Hakata antigen)"""			9694814, 10330454	Standard	NM_003665		Approved	FCNH, HAKA1	uc001boa.3	O75636	OTTHUMG00000005722	ENST00000270879.4:c.246C>T	1.37:g.27699998G>A						FCN3_ENST00000354982.2_Intron	p.N82N	NM_003665.2	NP_003656.2	O75636	FCN3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;1.42e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00128)|KIRC - Kidney renal clear cell carcinoma(1967;0.00155)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)	4	251	-		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	82					Q6IBJ5|Q8WW86	Silent	SNP	ENST00000270879.4	37	c.246C>T	CCDS300.1																																																																																				0.607	FCN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000015667.1			9	30	0	0	0	1	0	9	30				
MMS22L	253714	broad.mit.edu	37	6	97677200	97677200	+	Silent	SNP	G	G	A			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr6:97677200G>A	ENST00000275053.4	-	14	1874	c.1609C>T	c.(1609-1611)Ctg>Ttg	p.L537L	MMS22L_ENST00000369251.2_Silent_p.L497L	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	537					double-strand break repair via homologous recombination (GO:0000724)|replication fork processing (GO:0031297)	nuclear replication fork (GO:0043596)				breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						GCTGCTAACAGTAGAAAAAGG	0.363																																						ENST00000275053.4																			0				breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						c.(1609-1611)Ctg>Ttg		MMS22-like, DNA repair protein							37.0	36.0	36.0					6																	97677200		2203	4300	6503	SO:0001819	synonymous_variant	253714				double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding	g.chr6:97677200G>A		CCDS5039.1	6q16.3	2010-11-11	2010-11-11	2010-11-11	ENSG00000146263	ENSG00000146263			21475	protein-coding gene	gene with protein product		615614	"""chromosome 6 open reading frame 167"""	C6orf167		21055983, 21055984	Standard	NM_198468		Approved	dJ39B17.2	uc003ppb.3	Q6ZRQ5	OTTHUMG00000015248	ENST00000275053.4:c.1609C>T	6.37:g.97677200G>A						MMS22L_ENST00000369251.2_Silent_p.L497L	p.L537L	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN			14	1874	-			537					D6R9Y8|D6RBQ4|E1P529|Q5THT2|Q68CQ6|Q68D32	Silent	SNP	ENST00000275053.4	37	c.1609C>T	CCDS5039.1																																																																																				0.363	MMS22L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041573.3	NM_198468		10	28	0	0	0	1	0	10	28				
GNA11	2767	broad.mit.edu	37	19	3118953	3118953	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr19:3118953C>T	ENST00000078429.4	+	5	879	c.637C>T	c.(637-639)Cgg>Tgg	p.R213W	GNA11_ENST00000586180.1_3'UTR|AC005262.2_ENST00000585980.1_RNA|AC005262.3_ENST00000587701.1_RNA	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	213					action potential (GO:0001508)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cellular response to pH (GO:0071467)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|regulation of melanocyte differentiation (GO:0045634)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)			endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GCGGTCGGAGCGGAGGAAGTG	0.607			Mis		uveal melanoma																																	ENST00000078429.4				Dom	yes		19	19p13.3	2767	Mis	"""guanine nucleotide binding protein (G protein), alpha 11 (Gq class)"""			E			uveal melanoma		0				endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161						c.(637-639)Cgg>Tgg		guanine nucleotide binding protein (G protein), alpha 11 (Gq class)							122.0	101.0	108.0					19																	3118953		2203	4300	6503	SO:0001583	missense	2767				activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr19:3118953C>T	AF493900	CCDS12103.1	19p13.3	2014-02-04			ENSG00000088256	ENSG00000088256			4379	protein-coding gene	gene with protein product		139313	"""hypocalciuric hypercalcemia 2"""	HHC2		1302014, 23802516	Standard	NM_002067		Approved	FBH, FBH2, FHH2	uc002lxd.3	P29992	OTTHUMG00000180631	ENST00000078429.4:c.637C>T	19.37:g.3118953C>T	ENSP00000078429:p.Arg213Trp					AC005262.3_ENST00000587701.1_RNA|GNA11_ENST00000586180.1_3'UTR	p.R213W	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)	5	879	+		Hepatocellular(1079;0.137)	213					O15109|Q14350|Q6IB00	Missense_Mutation	SNP	ENST00000078429.4	37	c.637C>T	CCDS12103.1	.	.	.	.	.	.	.	.	.	.	.	18.38	3.610846	0.66558	.	.	ENSG00000088256	ENST00000078429	D	0.93076	-3.16	3.26	2.09	0.27110	.	0.096206	0.42821	U	0.000649	D	0.97682	0.9240	H	0.98351	4.21	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97289	0.9923	10	0.87932	D	0	.	10.748	0.46191	0.189:0.811:0.0:0.0	.	213	P29992	GNA11_HUMAN	W	213	ENSP00000078429:R213W	ENSP00000078429:R213W	R	+	1	2	GNA11	3069953	1.000000	0.71417	0.997000	0.53966	0.601000	0.36947	2.419000	0.44671	1.532000	0.49169	0.462000	0.41574	CGG		0.607	GNA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452261.2	NM_002067		24	80	0	0	0	1	0	24	80				
AVL9	23080	broad.mit.edu	37	7	32594194	32594194	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr7:32594194C>T	ENST00000318709.4	+	8	816	c.595C>T	c.(595-597)Ctt>Ttt	p.L199F	AVL9_ENST00000409301.1_Missense_Mutation_p.L199F|AVL9_ENST00000404479.1_Missense_Mutation_p.L199F	NM_015060.1	NP_055875.1	Q8NBF6	AVL9_HUMAN	AVL9 homolog (S. cerevisiase)	199					cell migration (GO:0016477)	integral component of membrane (GO:0016021)|recycling endosome (GO:0055037)				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						TAAGCTAATTCTTCTTGAAAA	0.289																																						ENST00000318709.4																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(595-597)Ctt>Ttt		AVL9 homolog (S. cerevisiase)							51.0	61.0	57.0					7																	32594194		2201	4297	6498	SO:0001583	missense	23080					integral to membrane		g.chr7:32594194C>T	D87682	CCDS34613.1	7p14.3	2013-05-01	2008-10-03	2008-10-03	ENSG00000105778	ENSG00000105778			28994	protein-coding gene	gene with protein product		612927	"""KIAA0241"""	KIAA0241		17229886, 22595670	Standard	XM_005249668		Approved		uc003tcv.1	Q8NBF6	OTTHUMG00000152929	ENST00000318709.4:c.595C>T	7.37:g.32594194C>T	ENSP00000315568:p.Leu199Phe					AVL9_ENST00000409301.1_Missense_Mutation_p.L199F|AVL9_ENST00000404479.1_Missense_Mutation_p.L199F	p.L199F	NM_015060.1	NP_055875.1	Q8NBF6	AVL9_HUMAN			8	816	+			199					Q92573	Missense_Mutation	SNP	ENST00000318709.4	37	c.595C>T	CCDS34613.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.185917	0.78789	.	.	ENSG00000105778	ENST00000318709;ENST00000409301;ENST00000329714;ENST00000404479;ENST00000446718	T;T;T;T	0.60672	0.17;0.17;0.17;0.17	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.79673	0.4486	M	0.83012	2.62	0.80722	D	1	D;D;D	0.89917	1.0;0.994;1.0	D;D;D	0.91635	0.999;0.973;0.999	T	0.81924	-0.0710	10	0.87932	D	0	-25.8631	19.7147	0.96110	0.0:1.0:0.0:0.0	.	199;199;199	Q8N6Z3;Q8NBF6-2;Q8NBF6	.;.;AVL9_HUMAN	F	199;199;199;199;130	ENSP00000315568:L199F;ENSP00000387011:L199F;ENSP00000385242:L199F;ENSP00000395134:L130F	ENSP00000315568:L199F	L	+	1	0	AVL9	32560719	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	3.933000	0.56545	2.656000	0.90262	0.460000	0.39030	CTT		0.289	AVL9-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328643.1	NM_015060		18	26	0	0	0	1	0	18	26				
SKIDA1	387640	broad.mit.edu	37	10	21804944	21804944	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr10:21804944T>C	ENST00000449193.2	-	4	4060	c.1808A>G	c.(1807-1809)cAa>cGa	p.Q603R	SKIDA1_ENST00000444772.3_Missense_Mutation_p.Q524R	NM_207371.3	NP_997254.3	Q1XH10	SKDA1_HUMAN	SKI/DACH domain containing 1	522						nucleus (GO:0005634)											AGGAGTTGTTTGTAGGCATTT	0.418																																						ENST00000449193.2																			0											c.(1807-1809)cAa>cGa		SKI/DACH domain containing 1							101.0	101.0	101.0					10																	21804944		1899	4106	6005	SO:0001583	missense	387640							g.chr10:21804944T>C	AK131456	CCDS44363.1	10p12.31	2012-06-13	2012-06-13	2012-06-13	ENSG00000180592	ENSG00000180592			32697	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 140"""	C10orf140			Standard	NM_207371		Approved	FLJ45187	uc021pnx.1	Q1XH10	OTTHUMG00000017797	ENST00000449193.2:c.1808A>G	10.37:g.21804944T>C	ENSP00000410041:p.Gln603Arg					SKIDA1_ENST00000444772.3_Missense_Mutation_p.Q524R	p.Q603R	NM_207371.3	NP_997254.3					4	4060	-								B1ANA5|Q6ZMX4|Q8N3C3	Missense_Mutation	SNP	ENST00000449193.2	37	c.1808A>G	CCDS44363.1	.	.	.	.	.	.	.	.	.	.	T	7.998	0.754718	0.15778	.	.	ENSG00000180592	ENST00000449193;ENST00000444772	.	.	.	6.03	-3.49	0.04724	.	0.350803	0.26612	N	0.023416	T	0.33556	0.0867	L	0.32530	0.975	0.26307	N	0.977882	B	0.02656	0.0	B	0.04013	0.001	T	0.16217	-1.0410	9	0.54805	T	0.06	-4.497	14.6542	0.68820	0.0:0.0578:0.6422:0.3	.	603	E9PAX1	.	R	603;524	.	ENSP00000442432:Q524R	Q	-	2	0	C10orf140	21844950	0.994000	0.37717	0.889000	0.34880	0.978000	0.69477	0.244000	0.18124	-0.858000	0.04110	-0.306000	0.09157	CAA		0.418	SKIDA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286950.2	NM_207371		9	46	0	0	0	1	0	9	46				
TP53	7157	broad.mit.edu	37	17	7577580	7577580	+	Missense_Mutation	SNP	T	T	C	rs587780073		TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr17:7577580T>C	ENST00000269305.4	-	7	890	c.701A>G	c.(700-702)tAc>tGc	p.Y234C	TP53_ENST00000420246.2_Missense_Mutation_p.Y234C|TP53_ENST00000359597.4_Missense_Mutation_p.Y234C|TP53_ENST00000455263.2_Missense_Mutation_p.Y234C|TP53_ENST00000445888.2_Missense_Mutation_p.Y234C|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.Y234C	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	234	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> K (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> N (in sporadic cancers; somatic mutation).|Y -> Q (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Y234C(94)|p.Y234S(9)|p.Y141C(8)|p.0?(8)|p.?(5)|p.Y234del(3)|p.Y141S(2)|p.I232_Y236delIHYNY(1)|p.Y234fs*2(1)|p.Y234F(1)|p.T230_Y234delTTIHY(1)|p.H233fs*6(1)|p.Y234R(1)|p.V225fs*23(1)|p.D228fs*12(1)|p.Y234fs*5(1)|p.Y234fs*4(1)|p.I232fs*5(1)|p.H233_C242del10(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CATGTAGTTGTAGTGGATGGT	0.572		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		141	Substitution - Missense(115)|Whole gene deletion(8)|Deletion - Frameshift(7)|Deletion - In frame(6)|Unknown(5)	p.Y234C(94)|p.Y234S(9)|p.Y141C(8)|p.0?(8)|p.?(5)|p.Y234del(3)|p.Y141S(2)|p.I232_Y236delIHYNY(1)|p.Y234fs*2(1)|p.Y234F(1)|p.T230_Y234delTTIHY(1)|p.H233fs*6(1)|p.Y234R(1)|p.V225fs*23(1)|p.D228fs*12(1)|p.Y234fs*5(1)|p.Y234fs*4(1)|p.I232fs*5(1)|p.H233_C242del10(1)	lung(32)|haematopoietic_and_lymphoid_tissue(17)|breast(17)|ovary(15)|central_nervous_system(10)|urinary_tract(9)|upper_aerodigestive_tract(8)|oesophagus(7)|biliary_tract(6)|large_intestine(5)|kidney(4)|bone(4)|cervix(2)|stomach(2)|adrenal_gland(1)|skin(1)|liver(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM035576	TP53	M		c.(700-702)tAc>tGc	Other conserved DNA damage response genes	tumor protein p53							119.0	95.0	103.0					17																	7577580		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577580T>C	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.701A>G	17.37:g.7577580T>C	ENSP00000269305:p.Tyr234Cys	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000359597.4_Missense_Mutation_p.Y234C|TP53_ENST00000455263.2_Missense_Mutation_p.Y234C|TP53_ENST00000269305.4_Missense_Mutation_p.Y234C|TP53_ENST00000413465.2_Missense_Mutation_p.Y234C|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.Y234C	p.Y234C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	833	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	234		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> K (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> N (in sporadic cancers; somatic mutation).|Y -> Q (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> S (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.701A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	16.52	3.146603	0.57044	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99826	-6.98;-6.98;-6.98;-6.98;-6.98;-6.98;-6.98;-6.98	4.62	3.49	0.39957	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.211900	0.41823	D	0.000804	D	0.99778	0.9908	M	0.88105	2.93	0.51012	D	0.999909	D;D;D;D;D;D	0.89917	0.999;1.0;1.0;0.999;1.0;1.0	D;D;D;D;D;D	0.91635	0.982;0.998;0.997;0.985;0.994;0.999	D	0.98045	1.0384	10	0.87932	D	0	-10.1131	9.0203	0.36195	0.1783:0.0:0.0:0.8216	.	234;234;141;234;234;234	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	C	234;234;234;234;234;234;223;141;102;141	ENSP00000410739:Y234C;ENSP00000352610:Y234C;ENSP00000269305:Y234C;ENSP00000398846:Y234C;ENSP00000391127:Y234C;ENSP00000391478:Y234C;ENSP00000425104:Y102C;ENSP00000423862:Y141C	ENSP00000269305:Y234C	Y	-	2	0	TP53	7518305	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.037000	0.41174	0.835000	0.34877	0.379000	0.24179	TAC		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		12	53	0	0	0	1	0	12	53				
LOH12CR1	118426	broad.mit.edu	37	12	12514171	12514171	+	Silent	SNP	G	G	A			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr12:12514171G>A	ENST00000314565.4	+	2	421	c.90G>A	c.(88-90)aaG>aaA	p.K30K	LOH12CR1_ENST00000298571.6_Intron|LOH12CR1_ENST00000542728.1_Silent_p.K11K	NM_058169.3	NP_477517.1	Q969J3	L12R1_HUMAN	loss of heterozygosity, 12, chromosomal region 1	30										kidney(1)|large_intestine(1)|lung(1)|ovary(1)	4		Prostate(47;0.0802)		BRCA - Breast invasive adenocarcinoma(232;0.0205)		ATAGAGCCAAGATGGATGATA	0.483																																						ENST00000314565.4																			0				kidney(1)|large_intestine(1)|lung(1)|ovary(1)	4						c.(88-90)aaG>aaA		loss of heterozygosity, 12, chromosomal region 1							172.0	157.0	162.0					12																	12514171		2203	4300	6503	SO:0001819	synonymous_variant	118426							g.chr12:12514171G>A	AY037865	CCDS8649.1, CCDS73448.1	12p12	2008-07-03			ENSG00000165714	ENSG00000165714			17950	protein-coding gene	gene with protein product						11896457, 15284860	Standard	XR_242885		Approved	LOH1CR12	uc001ral.2	Q969J3	OTTHUMG00000168542	ENST00000314565.4:c.90G>A	12.37:g.12514171G>A						LOH12CR1_ENST00000298571.6_Intron|LOH12CR1_ENST00000542728.1_Silent_p.K11K	p.K30K	NM_058169.3	NP_477517.1	Q969J3	L12R1_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.0205)	2	421	+		Prostate(47;0.0802)	30					Q96QS5	Silent	SNP	ENST00000314565.4	37	c.90G>A	CCDS8649.1																																																																																				0.483	LOH12CR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400150.1			29	90	0	0	0	1	0	29	90				
SYNE1	23345	broad.mit.edu	37	6	152651124	152651124	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr6:152651124C>T	ENST00000367255.5	-	78	15297	c.14696G>A	c.(14695-14697)tGg>tAg	p.W4899*	SYNE1_ENST00000423061.1_Nonsense_Mutation_p.W4828*|SYNE1_ENST00000265368.4_Nonsense_Mutation_p.W4899*|SYNE1_ENST00000448038.1_Nonsense_Mutation_p.W4828*|SYNE1_ENST00000341594.5_Nonsense_Mutation_p.W4646*	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4899					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCTCCTCAGCCAGTCCAGGGA	0.502										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(14695-14697)tGg>tAg		spectrin repeat containing, nuclear envelope 1							116.0	115.0	115.0					6																	152651124		2203	4300	6503	SO:0001587	stop_gained	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152651124C>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.14696G>A	6.37:g.152651124C>T	ENSP00000356224:p.Trp4899*	HNSCC(10;0.0054)				SYNE1_ENST00000265368.4_Nonsense_Mutation_p.W4899*|SYNE1_ENST00000423061.1_Nonsense_Mutation_p.W4828*|SYNE1_ENST00000448038.1_Nonsense_Mutation_p.W4828*|SYNE1_ENST00000341594.5_Nonsense_Mutation_p.W4646*	p.W4899*	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	78	15297	-		Ovarian(120;0.0955)	4899					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Nonsense_Mutation	SNP	ENST00000367255.5	37	c.14696G>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	57	29.735976	0.99976	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	.	.	.	5.78	5.78	0.91487	.	0.000000	0.56097	D	0.000023	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.0109	0.97448	0.0:1.0:0.0:0.0	.	.	.	.	X	4899;4828;4899;4828;4646	.	ENSP00000265368:W4899X	W	-	2	0	SYNE1	152692817	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.738000	0.93877	0.591000	0.81541	TGG		0.502	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		27	76	0	0	0	1	0	27	76				
CAPN1	823	broad.mit.edu	37	11	64978756	64978756	+	Silent	SNP	G	G	A			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr11:64978756G>A	ENST00000527323.1	+	21	2384	c.2144G>A	c.(2143-2145)tGa>tAa	p.*715*	CAPN1_ENST00000533820.1_Silent_p.*715*|CAPN1_ENST00000533129.1_Silent_p.*715*|CAPN1_ENST00000524773.1_Silent_p.*715*|SLC22A20_ENST00000525437.1_RNA|CAPN1_ENST00000279247.6_Silent_p.*715*			P07384	CAN1_HUMAN	calpain 1, (mu/I) large subunit	0					extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell proliferation (GO:0008284)|proteolysis (GO:0006508)|receptor catabolic process (GO:0032801)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13		Lung NSC(402;0.094)|Melanoma(852;0.16)		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)		ATGTTTGCATGAGGCAGGGAC	0.652																																						ENST00000527323.1																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						c.(2143-2145)tGa>tAa		calpain 1, (mu/I) large subunit							48.0	55.0	52.0					11																	64978756		2145	4250	6395	SO:0001819	synonymous_variant	823				positive regulation of cell proliferation|proteolysis	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|protein binding	g.chr11:64978756G>A	X04366	CCDS44644.1	11q13	2013-01-10			ENSG00000014216	ENSG00000014216	3.4.22.52	"""EF-hand domain containing"""	1476	protein-coding gene	gene with protein product		114220				3017764, 2209092	Standard	NM_005186		Approved	muCANP, muCL, CANP, CANPL1	uc009yqd.2	P07384	OTTHUMG00000165614	ENST00000527323.1:c.2144G>A	11.37:g.64978756G>A						CAPN1_ENST00000279247.6_Silent_p.*715*|CAPN1_ENST00000524773.1_Silent_p.*715*|CAPN1_ENST00000533820.1_Silent_p.*715*|CAPN1_ENST00000533129.1_Silent_p.*715*	p.*715*			P07384	CAN1_HUMAN		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)	21	2384	+		Lung NSC(402;0.094)|Melanoma(852;0.16)	0					Q2TTR0|Q6DHV4	Silent	SNP	ENST00000527323.1	37	c.2144G>A	CCDS44644.1																																																																																				0.652	CAPN1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385325.1			10	20	0	0	0	1	0	10	20				
CHMP4A	29082	broad.mit.edu	37	14	24682634	24682634	+	Silent	SNP	G	G	A			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr14:24682634G>A	ENST00000609024.1	-	1	60	c.12C>T	c.(10-12)ctC>ctT	p.L4L	TM9SF1_ENST00000556387.1_Silent_p.L4L|TM9SF1_ENST00000530611.1_Silent_p.L4L|NEDD8-MDP1_ENST00000604306.1_5'Flank|MDP1_ENST00000532557.1_5'Flank|AL136419.6_ENST00000565988.1_RNA|CHMP4A_ENST00000347519.6_Silent_p.L47L|CHMP4A_ENST00000542700.2_5'Flank|CHMP4A_ENST00000530996.1_5'UTR			Q9BY43	CHM4A_HUMAN	charged multivesicular body protein 4A	4	Interaction with phosphoinosides.|Intramolecular interaction with C- terminus. {ECO:0000250}.				endosomal transport (GO:0016197)|membrane budding (GO:0006900)|membrane organization (GO:0061024)|membrane tubulation (GO:0097320)|negative regulation of autophagic vacuole assembly (GO:1902902)|negative regulation of neuron death (GO:1901215)|posttranslational protein targeting to membrane (GO:0006620)|protein homooligomerization (GO:0051260)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|ESCRT III complex (GO:0000815)|extracellular vesicular exosome (GO:0070062)|midbody (GO:0030496)|nucleus (GO:0005634)	ATPase binding (GO:0051117)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)	p.L47L(1)		NS(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)	9				GBM - Glioblastoma multiforme(265;0.0181)		AGAGCCTGCCGAGACCACTCA	0.682																																						ENST00000530611.1																			1	Substitution - coding silent(1)	p.L47L(1)	lung(1)	NS(1)|breast(4)|endometrium(3)|large_intestine(11)|lung(4)|ovary(1)	24						c.(10-12)ctC>ctT		transmembrane 9 superfamily member 1							41.0	42.0	41.0					14																	24682634		2203	4300	6503	SO:0001819	synonymous_variant	10548				autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane		g.chr14:24682634G>A	AF212243	CCDS9619.1	14q12	2012-10-04	2011-09-21	2005-04-04	ENSG00000254505	ENSG00000254505		"""Charged multivesicular body proteins"""	20274	protein-coding gene	gene with protein product		610051	"""chromosome 14 open reading frame 123"", ""chromatin modifying protein 4A"""	C14orf123			Standard	NM_014169		Approved	HSPC134, VPS32A		Q9BY43	OTTHUMG00000167036	ENST00000609024.1:c.12C>T	14.37:g.24682634G>A						CHMP4A_ENST00000347519.6_Silent_p.L47L|AL136419.6_ENST00000565988.1_RNA|TM9SF1_ENST00000556387.1_Silent_p.L4L	p.L4L			O15321	TM9S1_HUMAN		GBM - Glioblastoma multiforme(265;0.0183)	1	45	-			0					Q14D22|Q32Q79|Q86SZ8|Q96QJ9|Q9P026	Silent	SNP	ENST00000609024.1	37	c.12C>T		.	.	.	.	.	.	.	.	.	.	G	11.78	1.741067	0.30865	.	.	ENSG00000254505	ENST00000548308	.	.	.	5.02	-1.54	0.08584	.	.	.	.	.	T	0.18257	0.0438	.	.	.	0.25172	N	0.990278	.	.	.	.	.	.	T	0.24870	-1.0148	4	.	.	.	1.8754	0.4368	0.00480	0.2575:0.1385:0.3207:0.2833	.	.	.	.	W	24	.	.	R	-	1	2	AL096870.1	23752474	0.109000	0.22037	0.028000	0.17463	0.963000	0.63663	-0.074000	0.11450	0.028000	0.15324	-0.311000	0.09066	CGG		0.682	CHMP4A-012	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000471846.1	NM_014169		21	68	0	0	0	1	0	21	68				
MUC17	140453	broad.mit.edu	37	7	100677971	100677971	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr7:100677971C>T	ENST00000306151.4	+	3	3338	c.3274C>T	c.(3274-3276)Cca>Tca	p.P1092S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1092	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TACCAGCATGCCAACCTCAAC	0.507																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(3274-3276)Cca>Tca		mucin 17, cell surface associated							481.0	387.0	419.0					7																	100677971		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100677971C>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.3274C>T	7.37:g.100677971C>T	ENSP00000302716:p.Pro1092Ser						p.P1092S	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	3338	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1092			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.3274C>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	0.764	-0.768310	0.02974	.	.	ENSG00000169876	ENST00000306151	T	0.03152	4.03	0.693	-0.503	0.12000	.	.	.	.	.	T	0.01222	0.0040	N	0.02916	-0.46	0.09310	N	1	B	0.26512	0.151	B	0.19148	0.024	T	0.45190	-0.9278	9	0.02654	T	1	.	5.0302	0.14405	0.0:0.7341:0.0:0.2659	.	1092	Q685J3	MUC17_HUMAN	S	1092	ENSP00000302716:P1092S	ENSP00000302716:P1092S	P	+	1	0	MUC17	100464691	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-2.804000	0.00759	-0.211000	0.10124	0.196000	0.17591	CCA		0.507	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		7	480	0	0	0	1	0	7	480				
PCDH11X	27328	broad.mit.edu	37	X	91133553	91133553	+	Missense_Mutation	SNP	G	G	A	rs369246059		TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chrX:91133553G>A	ENST00000373094.1	+	2	3159	c.2314G>A	c.(2314-2316)Gtg>Atg	p.V772M	PCDH11X_ENST00000373097.1_Missense_Mutation_p.V772M|PCDH11X_ENST00000361724.1_Missense_Mutation_p.V772M|PCDH11X_ENST00000504220.2_Missense_Mutation_p.V772M|PCDH11X_ENST00000361655.2_Missense_Mutation_p.V772M|PCDH11X_ENST00000395337.2_Missense_Mutation_p.V772M|PCDH11X_ENST00000406881.1_Missense_Mutation_p.V772M|PCDH11X_ENST00000298274.8_Missense_Mutation_p.V772M|PCDH11X_ENST00000373088.1_Missense_Mutation_p.V772M	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	772	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CAATCTGTTCGTGAATGAGTC	0.433																																					NSCLC(38;925 1092 2571 38200 45895)	ENST00000373094.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						c.(2314-2316)Gtg>Atg		protocadherin 11 X-linked		G	MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL	0,3835		0,0,1632,571	204.0	168.0	180.0		2314,2314,2314,2314,2314,2314,2314,2314	3.0	0.7	X		180	1,6727		0,1,2427,1872	no	missense,missense,missense,missense,missense,missense,missense,missense	PCDH11X	NM_001168360.1,NM_001168361.1,NM_001168362.1,NM_001168363.1,NM_014522.1,NM_032967.2,NM_032968.3,NM_032969.3	21,21,21,21,21,21,21,21	0,1,4059,2443	AA,AG,GG,G		0.0149,0.0,0.0095	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	772/1340,772/1066,772/1311,772/1330,772/1022,772/1026,772/1348,772/1338	91133553	1,10562	2203	4300	6503	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91133553G>A	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.2314G>A	X.37:g.91133553G>A	ENSP00000362186:p.Val772Met					PCDH11X_ENST00000361724.1_Missense_Mutation_p.V772M|PCDH11X_ENST00000361655.2_Missense_Mutation_p.V772M|PCDH11X_ENST00000395337.2_Missense_Mutation_p.V772M|PCDH11X_ENST00000298274.8_Missense_Mutation_p.V772M|PCDH11X_ENST00000373088.1_Missense_Mutation_p.V772M|PCDH11X_ENST00000373097.1_Missense_Mutation_p.V772M|PCDH11X_ENST00000406881.1_Missense_Mutation_p.V772M|PCDH11X_ENST00000504220.1_Missense_Mutation_p.V772M	p.V772M	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN			2	3159	+			772			Cadherin 7.		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.2314G>A	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	G	13.20	2.167280	0.38315	0.0	1.49E-4	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.60171	0.21;0.21;0.21;0.21;0.21;0.21;0.21;0.21;0.21	4.76	2.95	0.34219	Cadherin (3);Cadherin-like (1);	0.143965	0.46442	D	0.000287	T	0.80763	0.4685	H	0.95982	3.75	0.33493	D	0.588945	D;D;D;D;D;D;D;D	0.76494	0.997;0.996;0.998;0.998;0.998;0.999;0.997;0.997	D;D;D;D;D;D;D;D	0.72338	0.961;0.961;0.961;0.961;0.961;0.977;0.961;0.961	D	0.85736	0.1334	10	0.87932	D	0	.	9.5915	0.39548	0.178:0.0:0.822:0.0	.	772;772;772;772;772;772;772;772	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	M	772	ENSP00000378746:V772M;ENSP00000362186:V772M;ENSP00000362189:V772M;ENSP00000355040:V772M;ENSP00000362180:V772M;ENSP00000423762:V772M;ENSP00000355105:V772M;ENSP00000384758:V772M;ENSP00000298274:V772M	ENSP00000298274:V772M	V	+	1	0	PCDH11X	91020209	1.000000	0.71417	0.705000	0.30386	0.736000	0.42039	3.242000	0.51384	0.265000	0.21872	0.538000	0.68166	GTG		0.433	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		25	32	0	0	0	1	0	25	32				
SLC6A9	6536	broad.mit.edu	37	1	44477352	44477352	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr1:44477352A>C	ENST00000360584.2	-	2	321	c.130T>G	c.(130-132)Ttt>Gtt	p.F44V	SLC6A9_ENST00000537678.1_Intron|SLC6A9_ENST00000357730.2_Intron|SLC6A9_ENST00000372310.3_Intron|SLC6A9_ENST00000475075.2_Intron|SLC6A9_ENST00000372307.3_Intron|SLC6A9_ENST00000492434.2_Intron|SLC6A9_ENST00000372306.3_Intron	NM_201649.3	NP_964012.2	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	44					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	GCTCCAGAAAAGGGTGGCAGG	0.592																																						ENST00000360584.2																			0				endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22						c.(130-132)Ttt>Gtt		solute carrier family 6 (neurotransmitter transporter, glycine), member 9	Glycine(DB00145)						92.0	99.0	96.0					1																	44477352		1976	4151	6127	SO:0001583	missense	6536					integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr1:44477352A>C	S70609	CCDS30695.1, CCDS41316.1, CCDS41317.1	1p33	2013-05-22			ENSG00000196517	ENSG00000196517		"""Solute carriers"""	11056	protein-coding gene	gene with protein product		601019				8183239, 7587377	Standard	NM_006934		Approved	GLYT1	uc001cll.4	P48067	OTTHUMG00000008294	ENST00000360584.2:c.130T>G	1.37:g.44477352A>C	ENSP00000353791:p.Phe44Val					SLC6A9_ENST00000537678.1_Intron|SLC6A9_ENST00000372306.3_Intron|SLC6A9_ENST00000357730.2_Intron|SLC6A9_ENST00000492434.2_Intron|SLC6A9_ENST00000372310.3_Intron|SLC6A9_ENST00000475075.2_Intron|SLC6A9_ENST00000372307.3_Intron	p.F44V	NM_201649.3	NP_964012.2	P48067	SC6A9_HUMAN			2	321	-	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)	44					A6NDH1|A6NII2|A6NNZ8|Q5TAB8|Q5TAB9|Q5TAC0	Missense_Mutation	SNP	ENST00000360584.2	37	c.130T>G	CCDS41317.1	.	.	.	.	.	.	.	.	.	.	A	8.609	0.888613	0.17540	.	.	ENSG00000196517	ENST00000360584;ENST00000466926	T;T	0.74526	-0.85;-0.22	3.56	2.44	0.29823	.	7739.210000	0.00166	N	0.000000	T	0.54532	0.1864	N	0.08118	0	0.09310	N	0.999999	B	0.11235	0.004	B	0.09377	0.004	T	0.46679	-0.9174	10	0.15952	T	0.53	.	5.5053	0.16850	0.8734:0.0:0.1266:0.0	.	44	P48067	SC6A9_HUMAN	V	44;25	ENSP00000353791:F44V;ENSP00000433241:F25V	ENSP00000353791:F44V	F	-	1	0	SLC6A9	44249939	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.151000	0.10175	0.748000	0.32831	0.460000	0.39030	TTT		0.592	SLC6A9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000022825.2	NM_201649		25	70	0	0	0	1	0	25	70				
WDR35	57539	broad.mit.edu	37	2	20141595	20141595	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr2:20141595delG	ENST00000345530.3	-	18	1999	c.1884delC	c.(1882-1884)cccfs	p.P628fs	WDR35_ENST00000416055.2_Frame_Shift_Del_p.P193fs|WDR35_ENST00000281405.4_Frame_Shift_Del_p.P617fs	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	628					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)				breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGTCTGAATGGGTTCCTTTA	0.259																																						ENST00000345530.3																			0				breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						c.(1882-1884)ccfs		WD repeat domain 35							26.0	27.0	27.0					2																	20141595		2172	4289	6461	SO:0001589	frameshift_variant	57539							g.chr2:20141595delG	AB037757	CCDS1695.1, CCDS33152.1	2p24.3	2014-02-21			ENSG00000118965	ENSG00000118965		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	29250	protein-coding gene	gene with protein product		613602				10718198	Standard	NM_001006657		Approved	MGC33196, KIAA1336, IFT121, IFTA1	uc002rdi.3	Q9P2L0	OTTHUMG00000090737	ENST00000345530.3:c.1884delC	2.37:g.20141595delG	ENSP00000314444:p.Pro628fs					WDR35_ENST00000281405.4_Frame_Shift_Del_p.P617fs|WDR35_ENST00000416055.2_Frame_Shift_Del_p.P193fs	p.P628fs	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN			18	1999	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		628					B3KVI5|Q4ZG01|Q8NE11	Frame_Shift_Del	DEL	ENST00000345530.3	37	c.1884delC	CCDS33152.1																																																																																				0.259	WDR35-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000207472.2	NM_020779		2	4						2	4	---	---	---	---
MAFA	389692	broad.mit.edu	37	8	144511954	144511956	+	In_Frame_Del	DEL	TGG	TGG	-	rs552049497|rs141816879		TCGA-CV-A6JT-01A-11D-A31L-08	TCGA-CV-A6JT-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	211eead6-15a8-4798-80e6-9808c22f7867	d4db46f2-1e04-4707-aa30-27b99de2ea7d	g.chr8:144511954_144511956delTGG	ENST00000333480.2	-	1	620_622	c.621_623delCCA	c.(619-624)caccat>cat	p.207_208HH>H	MAFA_ENST00000528185.1_5'UTR	NM_201589.3	NP_963883.2	Q8NHW3	MAFA_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog A	207	His-rich.				insulin secretion (GO:0030073)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to glucose (GO:0009749)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.H208delH(3)		breast(1)|lung(1)|upper_aerodigestive_tract(2)	4	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.237)			CGCGCCGCCAtggtggtggtggt	0.744										HNSCC(29;0.082)																												ENST00000333480.2																			3	Deletion - In frame(3)	p.H208delH(3)	upper_aerodigestive_tract(2)|breast(1)	breast(1)|lung(1)|upper_aerodigestive_tract(2)	4						c.(619-624)cat>ca		v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog A																																				SO:0001651	inframe_deletion	389692				insulin secretion|nitric oxide mediated signal transduction|response to glucose stimulus	nucleus	protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr8:144511954_144511956delTGG	AY083269	CCDS34955.1	8q24.3	2013-07-09	2013-07-09			ENSG00000182759			23145	protein-coding gene	gene with protein product		610303					Standard	NM_201589		Approved	RIPE3b1, hMafA	uc003yyc.2	Q8NHW3		ENST00000333480.2:c.621_623delCCA	8.37:g.144511963_144511965delTGG	ENSP00000328364:p.His208del	HNSCC(29;0.082)				MAFA_ENST00000528185.1_5'UTR	p.HH207del	NM_201589.3	NP_963883.2	Q8NHW3	MAFA_HUMAN	Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.237)		1	620_622	-	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		207			His-rich.			In_Frame_Del	DEL	ENST00000333480.2	37	c.621_623delCCA	CCDS34955.1																																																																																				0.744	MAFA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381511.2	NM_201589		6	4						6	4	---	---	---	---
