#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_match_norm_validation_allele1	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_tumor_sample
SPEN	23013	broad.mit.edu	37	1	16260826	16260826	+	Silent	SNP	G	G	C			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr1:16260826G>C	ENST00000375759.3	+	11	8295	c.8091G>C	c.(8089-8091)gtG>gtC	p.V2697V		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2697	RID.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		AAGGGCCTGTGAATGTTCTTA	0.597																																						uc001axk.1		NaN																	0				ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						c.(8089-8091)GTG>GTC		spen homolog, transcriptional regulator							82.0	83.0	83.0					1																	16260826		2203	4300	6503	SO:0001819	synonymous_variant	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16260826G>C		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.8091G>C	1.37:g.16260826G>C						SPEN_uc010obp.1_Silent_p.V2656V	p.V2697V	NM_015001	NP_055816	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	11	8295	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	2697			RID.		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Silent	SNP	ENST00000375759.3	37	c.8091G>C	CCDS164.1																																																																																				0.597	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1		NM_015001		7	63	0	0	0	0.00308	0	7	63		
GSTM5	2949	broad.mit.edu	37	1	110257779	110257779	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr1:110257779G>C	ENST00000256593.3	+	7	542	c.484G>C	c.(484-486)Gat>Cat	p.D162H	GSTM5_ENST00000369813.1_Missense_Mutation_p.D121H|GSTM5_ENST00000369812.5_Missense_Mutation_p.D181H|GSTM5_ENST00000492718.1_3'UTR	NM_000851.3	NP_000842.2	P46439	GSTM5_HUMAN	glutathione S-transferase mu 5	162	GST C-terminal.				glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	glutathione transferase activity (GO:0004364)			NS(1)|central_nervous_system(6)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	21		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)	CCTTGCCTATGATGTCCTTGA	0.468																																						uc001dyn.2		NaN																	0				central_nervous_system(6)	6						c.(484-486)GAT>CAT		glutathione S-transferase mu 5	Glutathione(DB00143)						270.0	242.0	252.0					1																	110257779		2203	4300	6503	SO:0001583	missense	2949				xenobiotic metabolic process	endoplasmic reticulum membrane	glutathione transferase activity	g.chr1:110257779G>C	L02321	CCDS811.1	1p13.3	2012-06-21	2008-11-26		ENSG00000134201	ENSG00000134201	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4637	protein-coding gene	gene with protein product		138385	"""glutathione S-transferase M5"""			8473333	Standard	NM_000851		Approved		uc001dyn.3	P46439	OTTHUMG00000011644	ENST00000256593.3:c.484G>C	1.37:g.110257779G>C	ENSP00000256593:p.Asp162His					GSTM5_uc010ovu.1_Missense_Mutation_p.D121H	p.D162H	NM_000851	NP_000842	P46439	GSTM5_HUMAN		Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228)	7	555	+		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)	162			GST C-terminal.		A8K0V8|Q6PD78	Missense_Mutation	SNP	ENST00000256593.3	37	c.484G>C	CCDS811.1	.	.	.	.	.	.	.	.	.	.	G	15.76	2.929965	0.52759	.	.	ENSG00000134201	ENST00000256593;ENST00000369813;ENST00000369812	T;T;T	0.02085	4.46;4.46;4.46	5.02	5.02	0.67125	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);Glutathione S-transferase, C-terminal (1);	0.071809	0.53938	U	0.000055	T	0.15046	0.0363	H	0.96430	3.82	0.50313	D	0.99986	D;D	0.89917	0.999;1.0	D;D	0.83275	0.996;0.991	T	0.05903	-1.0857	10	0.87932	D	0	.	15.6947	0.77488	0.0:0.0:1.0:0.0	.	121;162	Q5T8Q9;P46439	.;GSTM5_HUMAN	H	162;121;181	ENSP00000256593:D162H;ENSP00000358828:D121H;ENSP00000358827:D181H	ENSP00000256593:D162H	D	+	1	0	GSTM5	110059302	1.000000	0.71417	0.079000	0.20413	0.137000	0.21094	8.225000	0.89784	2.468000	0.83385	0.597000	0.82753	GAT		0.468	GSTM5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000032200.1		NM_000851		8	114	0	0	0	0.006214	0	8	114		
NGF	4803	broad.mit.edu	37	1	115828746	115828746	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr1:115828746C>T	ENST00000369512.2	-	3	839	c.671G>A	c.(670-672)cGg>cAg	p.R224Q	RP4-663N10.1_ENST00000425449.1_RNA	NM_002506.2	NP_002497.2	P01138	NGF_HUMAN	nerve growth factor (beta polypeptide)	224					activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|adult locomotory behavior (GO:0008344)|apoptotic signaling pathway (GO:0097190)|circadian rhythm (GO:0007623)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|inflammatory response (GO:0006954)|memory (GO:0007613)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle (GO:0045786)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|nerve growth factor processing (GO:0032455)|neuron apoptotic process (GO:0051402)|neuron projection morphogenesis (GO:0048812)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axon extension (GO:0045773)|positive regulation of axonogenesis (GO:0050772)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of neurotrophin TRK receptor signaling pathway (GO:0051388)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of stem cell proliferation (GO:2000648)|Ras protein signal transduction (GO:0007265)|regulation of axonogenesis (GO:0050770)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of neurotransmitter secretion (GO:0046928)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to nicotine (GO:0035094)|response to ozone (GO:0010193)|response to peptide hormone (GO:0043434)|response to radiation (GO:0009314)|sensory perception of pain (GO:0019233)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)	nerve growth factor receptor binding (GO:0005163)|receptor signaling protein activity (GO:0005057)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	Clenbuterol(DB01407)	CGTATCTATCCGGATAAACCG	0.572																																						uc001efu.1		NaN																	0				upper_aerodigestive_tract(2)	2						c.(670-672)CGG>CAG		nerve growth factor, beta polypeptide precursor	Clenbuterol(DB01407)						74.0	76.0	75.0					1																	115828746		2203	4300	6503	SO:0001583	missense	4803				activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|Golgi lumen	growth factor activity|nerve growth factor receptor binding	g.chr1:115828746C>T		CCDS882.1	1p13.1	2014-09-17	2008-02-07	2008-02-07	ENSG00000134259	ENSG00000134259		"""Endogenous ligands"""	7808	protein-coding gene	gene with protein product		162030		NGFB			Standard	XM_006710663		Approved		uc001efu.1	P01138	OTTHUMG00000011880	ENST00000369512.2:c.671G>A	1.37:g.115828746C>T	ENSP00000358525:p.Arg224Gln						p.R224Q	NM_002506	NP_002497	P01138	NGF_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	3	840	-	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)	224					A1A4E5|Q6FHA0|Q96P60|Q9P2Q8|Q9UKL8	Missense_Mutation	SNP	ENST00000369512.2	37	c.671G>A	CCDS882.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.517054	0.85495	.	.	ENSG00000134259	ENST00000369512	T	0.74947	-0.89	4.9	4.9	0.64082	Nerve growth factor-related (5);	0.000000	0.85682	D	0.000000	D	0.84306	0.5443	M	0.78637	2.42	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86487	0.1795	10	0.87932	D	0	-17.9886	17.1926	0.86883	0.0:1.0:0.0:0.0	.	224	P01138	NGF_HUMAN	Q	224	ENSP00000358525:R224Q	ENSP00000358525:R224Q	R	-	2	0	NGF	115630269	1.000000	0.71417	1.000000	0.80357	0.597000	0.36814	7.728000	0.84847	2.426000	0.82243	0.455000	0.32223	CGG		0.572	NGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032832.1		NM_002506		7	89	0	0	0	0.00308	0	7	89		
ANKRD34A	284615	broad.mit.edu	37	1	145473839	145473839	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr1:145473839C>T	ENST00000323397.4	+	4	1804	c.511C>T	c.(511-513)Cct>Tct	p.P171S	RP11-315I20.1_ENST00000600340.1_RNA	NM_001039888.2	NP_001034977.1	Q69YU3	AN34A_HUMAN	ankyrin repeat domain 34A	171						cytoplasm (GO:0005737)				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	20	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GGTGGAGGACCCTGCTCCCGC	0.627																																						uc001enq.1		NaN																	0					0						c.(511-513)CCT>TCT		ankyrin repeat domain 34							59.0	59.0	59.0					1																	145473839		2203	4300	6503	SO:0001583	missense	284615							g.chr1:145473839C>T	AK128050	CCDS72874.1	1q21.1	2013-01-10	2007-11-20	2007-11-20	ENSG00000181039	ENSG00000272031		"""Ankyrin repeat domain containing"""	27639	protein-coding gene	gene with protein product			"""ankyrin repeat domain 34"""	ANKRD34			Standard	NM_001039888		Approved		uc001enq.1	Q69YU3	OTTHUMG00000013740	ENST00000323397.4:c.511C>T	1.37:g.145473839C>T	ENSP00000314103:p.Pro171Ser					NBPF10_uc001emp.3_Intron	p.P171S	NM_001039888	NP_001034977	Q69YU3	AN34A_HUMAN			4	1804	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		171					B3KSU3	Missense_Mutation	SNP	ENST00000323397.4	37	c.511C>T	CCDS30829.1	.	.	.	.	.	.	.	.	.	.	C	8.520	0.868454	0.17322	.	.	ENSG00000181039	ENST00000323397	T	0.71222	-0.55	5.1	5.1	0.69264	.	1.453210	0.04761	N	0.426332	T	0.34019	0.0883	N	0.22421	0.69	0.09310	N	1	P	0.37594	0.601	B	0.24006	0.05	T	0.08371	-1.0725	10	0.17832	T	0.49	-4.7498	11.0457	0.47857	0.1851:0.8149:0.0:0.0	.	171	Q69YU3	AN34A_HUMAN	S	171	ENSP00000314103:P171S	ENSP00000314103:P171S	P	+	1	0	ANKRD34A	144185196	0.998000	0.40836	0.765000	0.31456	0.978000	0.69477	1.549000	0.36212	2.654000	0.90174	0.485000	0.47835	CCT		0.627	ANKRD34A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038512.1				27	77	0	0	0	0.013726	0	27	77		
PI4KB	5298	broad.mit.edu	37	1	151271497	151271497	+	Missense_Mutation	SNP	A	A	C			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr1:151271497A>C	ENST00000368873.1	-	9	1970	c.1802T>G	c.(1801-1803)cTt>cGt	p.L601R	RN7SL444P_ENST00000578948.1_RNA|PI4KB_ENST00000529142.1_Missense_Mutation_p.L269R|PI4KB_ENST00000368874.4_Missense_Mutation_p.L586R|PI4KB_ENST00000368872.1_Missense_Mutation_p.L586R|PI4KB_ENST00000368875.2_Missense_Mutation_p.L613R|PI4KB_ENST00000271657.5_Missense_Mutation_p.L613R			Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta	601	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269, ECO:0000305}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CGAAATCACAAGAATCTTGTA	0.468																																					Colon(154;765 1838 9854 28443 37492)	uc001ext.2		NaN																	0				ovary(2)|skin(2)	4						c.(1801-1803)CTT>CGT		catalytic phosphatidylinositol 4-kinase beta							121.0	108.0	113.0					1																	151271497		2203	4300	6503	SO:0001583	missense	5298				phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	g.chr1:151271497A>C	AB005910	CCDS993.1, CCDS55637.1, CCDS55638.1	1q21	2008-02-05	2007-08-14	2007-08-02	ENSG00000143393	ENSG00000143393			8984	protein-coding gene	gene with protein product		602758		PIK4CB		9020160, 9405938	Standard	NM_002651		Approved	PI4K-BETA, pi4K92	uc001exu.3	Q9UBF8	OTTHUMG00000012348	ENST00000368873.1:c.1802T>G	1.37:g.151271497A>C	ENSP00000357867:p.Leu601Arg					PI4KB_uc001exr.2_Missense_Mutation_p.L613R|PI4KB_uc001exs.2_Missense_Mutation_p.L586R|PI4KB_uc001exu.2_Missense_Mutation_p.L586R|PI4KB_uc010pcw.1_Missense_Mutation_p.L269R	p.L601R	NM_002651	NP_002642	Q9UBF8	PI4KB_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		9	2217	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		601			PI3K/PI4K.		B4DGI2|O15096|P78405|Q5VWB9|Q5VWC0|Q5VWC1|Q9BWR6	Missense_Mutation	SNP	ENST00000368873.1	37	c.1802T>G		.	.	.	.	.	.	.	.	.	.	A	24.5	4.536741	0.85812	.	.	ENSG00000143393	ENST00000368874;ENST00000368875;ENST00000271657;ENST00000368873;ENST00000529142;ENST00000368872;ENST00000489889	D;D;D;D;D;D;D	0.84146	-1.81;-1.81;-1.81;-1.81;-1.81;-1.81;-1.81	5.98	5.98	0.97165	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.059430	0.64402	D	0.000002	D	0.93174	0.7826	M	0.92970	3.365	0.80722	D	1	D;D;D	0.76494	0.994;0.999;0.987	D;D;P	0.72982	0.979;0.977;0.898	D	0.94643	0.7832	10	0.87932	D	0	-10.5986	15.3525	0.74399	1.0:0.0:0.0:0.0	.	601;586;269	Q9UBF8;Q9UBF8-2;Q9UBF8-3	PI4KB_HUMAN;.;.	R	586;613;613;601;269;586;5	ENSP00000357868:L586R;ENSP00000357869:L613R;ENSP00000271657:L613R;ENSP00000357867:L601R;ENSP00000433149:L269R;ENSP00000357866:L586R;ENSP00000432426:L5R	ENSP00000271657:L613R	L	-	2	0	PI4KB	149538121	1.000000	0.71417	0.997000	0.53966	0.840000	0.47671	8.921000	0.92784	2.307000	0.77673	0.529000	0.55759	CTT		0.468	PI4KB-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000034400.3		NM_002651		44	101	0	0	0	0.01441	0	44	101		
ZBTB7B	51043	broad.mit.edu	37	1	154988705	154988705	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr1:154988705G>T	ENST00000368426.3	+	4	1301	c.1164G>T	c.(1162-1164)aaG>aaT	p.K388N	ZBTB7B_ENST00000535420.1_Missense_Mutation_p.K388N|ZBTB7B_ENST00000417934.2_Missense_Mutation_p.K422N|ZBTB7B_ENST00000292176.2_Missense_Mutation_p.K388N	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	388					cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K388N(2)		endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GGAACGACAAGCTGAAGATCC	0.632																																						uc001fgk.3		NaN																	2	Substitution - Missense(2)		kidney(1)|endometrium(1)		0						c.(1162-1164)AAG>AAT		zinc finger and BTB domain containing 7B							79.0	73.0	75.0					1																	154988705		2203	4300	6503	SO:0001583	missense	51043				cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr1:154988705G>T	AF007833	CCDS1081.1, CCDS58030.1	1q21.2	2013-01-08		2005-04-07	ENSG00000160685	ENSG00000160685		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	18668	protein-coding gene	gene with protein product	"""zinc finger and BTB domain containing 15"""	607646	"""zinc finger protein 67 homolog (mouse)"""	ZFP67		9370309, 7937772	Standard	NR_045515		Approved	ZBTB15, c-Krox, hcKrox, ZNF857B	uc010peq.3	O15156	OTTHUMG00000037414	ENST00000368426.3:c.1164G>T	1.37:g.154988705G>T	ENSP00000357411:p.Lys388Asn					ZBTB7B_uc009wpa.2_Missense_Mutation_p.K388N|ZBTB7B_uc001fgj.3_Missense_Mutation_p.K422N|ZBTB7B_uc010peq.1_Missense_Mutation_p.K422N|ZBTB7B_uc001fgl.3_Missense_Mutation_p.K388N	p.K388N	NM_015872	NP_056956	O15156	ZBT7B_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		4	1322	+	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		388			C2H2-type 2.		B4E3K5|D3DV83|J3KQQ3|Q68DR2|Q96EP2	Missense_Mutation	SNP	ENST00000368426.3	37	c.1164G>T	CCDS1081.1	.	.	.	.	.	.	.	.	.	.	g	13.86	2.363189	0.41902	.	.	ENSG00000160685	ENST00000535420;ENST00000368426;ENST00000417934;ENST00000292176	T;T;T;T	0.36157	1.27;1.27;1.27;1.27	3.87	3.87	0.44632	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	U	0.000000	T	0.21103	0.0508	N	0.02345	-0.59	0.45118	D	0.998135	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.72982	0.979;0.979;0.979	T	0.37619	-0.9698	10	0.36615	T	0.2	.	13.6873	0.62524	0.0:0.0:1.0:0.0	.	388;388;422	A8K6F4;O15156;B4E3K5	.;ZBT7B_HUMAN;.	N	388;388;422;388	ENSP00000438647:K388N;ENSP00000357411:K388N;ENSP00000406286:K422N;ENSP00000292176:K388N	ENSP00000292176:K388N	K	+	3	2	ZBTB7B	153255329	1.000000	0.71417	1.000000	0.80357	0.295000	0.27426	4.413000	0.59795	2.162000	0.67917	0.457000	0.33378	AAG		0.632	ZBTB7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091083.1		NM_015872		43	74	1	0	7.34454e-26	0.01441	8.49987e-26	43	74		
SPTA1	6708	broad.mit.edu	37	1	158639226	158639226	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr1:158639226T>A	ENST00000368147.4	-	14	1985	c.1805A>T	c.(1804-1806)aAa>aTa	p.K602I		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	602					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TGCCAACTTTTTCTTCTTGTT	0.418																																						uc001fst.1		NaN																	0				ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(1804-1806)AAA>ATA		spectrin, alpha, erythrocytic 1							285.0	266.0	272.0					1																	158639226		1915	4132	6047	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158639226T>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.1805A>T	1.37:g.158639226T>A	ENSP00000357129:p.Lys602Ile						p.K602I	NM_003126	NP_003117	P02549	SPTA1_HUMAN			14	2004	-	all_hematologic(112;0.0378)		602			Spectrin 7.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.1805A>T	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	T	16.79	3.221677	0.58560	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.51325	0.71;0.71	4.72	4.72	0.59763	.	0.000000	0.34002	N	0.004345	T	0.20941	0.0504	L	0.42581	1.335	0.39878	D	0.973596	B	0.26577	0.153	B	0.30401	0.115	T	0.07385	-1.0775	10	0.16896	T	0.51	.	7.8703	0.29563	0.2792:0.0:0.0:0.7208	.	602	P02549	SPTA1_HUMAN	I	602	ENSP00000357130:K602I;ENSP00000357129:K602I	ENSP00000357129:K602I	K	-	2	0	SPTA1	156905850	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	5.824000	0.69279	2.117000	0.64856	0.533000	0.62120	AAA		0.418	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3		NM_003126		94	189	0	0	0	0.01441	0	94	189		
RC3H1	149041	broad.mit.edu	37	1	173916585	173916585	+	Nonsense_Mutation	SNP	T	T	A			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr1:173916585T>A	ENST00000367696.2	-	15	3010	c.2659A>T	c.(2659-2661)Aaa>Taa	p.K887*	RC3H1_ENST00000367694.2_Nonsense_Mutation_p.K887*|RC3H1_ENST00000258349.4_Nonsense_Mutation_p.K887*			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	887					B cell homeostasis (GO:0001782)|cytoplasmic mRNA processing body assembly (GO:0033962)|lymph node development (GO:0048535)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of germinal center formation (GO:0002635)|negative regulation of T-helper cell differentiation (GO:0045623)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|posttranscriptional regulation of gene expression (GO:0010608)|protein ubiquitination (GO:0016567)|regulation of germinal center formation (GO:0002634)|regulation of mRNA stability (GO:0043488)|regulation of T cell receptor signaling pathway (GO:0050856)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						TATATAGTTTTGGAAGTTCGT	0.463																																						uc001gju.3		NaN																	0				ovary(2)	2						c.(2659-2661)AAA>TAA		roquin							130.0	131.0	131.0					1																	173916585		2203	4300	6503	SO:0001587	stop_gained	149041				cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:173916585T>A	AK093501	CCDS30940.1, CCDS72987.1	1q25.1	2013-01-18	2010-09-15		ENSG00000135870	ENSG00000135870		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, CCCH-type domain containing"""	29434	protein-coding gene	gene with protein product	"""KIAA2025 protein"""	609424	"""ring finger and CCCH-type zinc finger domains 1"""			15917799	Standard	XM_005244918		Approved	KIAA2025, roquin, RP5-1198E17.5, RNF198	uc001gju.4	Q5TC82	OTTHUMG00000037275	ENST00000367696.2:c.2659A>T	1.37:g.173916585T>A	ENSP00000356669:p.Lys887*					RC3H1_uc010pms.1_Nonsense_Mutation_p.K887*|RC3H1_uc001gjv.2_Nonsense_Mutation_p.K887*|RC3H1_uc010pmt.1_Nonsense_Mutation_p.K887*	p.K887*	NM_172071	NP_742068	Q5TC82	RC3H1_HUMAN			14	2746	-			887					B3KVK1|Q5W180|Q5W181|Q8IVE6|Q8N9V1	Nonsense_Mutation	SNP	ENST00000367696.2	37	c.2659A>T	CCDS30940.1	.	.	.	.	.	.	.	.	.	.	T	40	8.268491	0.98735	.	.	ENSG00000135870	ENST00000367696;ENST00000258349;ENST00000367694	.	.	.	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-21.0027	16.0129	0.80417	0.0:0.0:0.0:1.0	.	.	.	.	X	887	.	ENSP00000258349:K887X	K	-	1	0	RC3H1	172183208	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	7.698000	0.84413	2.184000	0.69523	0.482000	0.46254	AAA		0.463	RC3H1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090733.2		NM_172071		8	80	0	0	0	0.013537	0	8	80		
AXDND1	126859	broad.mit.edu	37	1	179335702	179335702	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr1:179335702A>G	ENST00000367618.3	+	2	445	c.58A>G	c.(58-60)Aaa>Gaa	p.K20E	AXDND1_ENST00000457238.2_Missense_Mutation_p.K20E|RN7SL374P_ENST00000577343.1_RNA|AXDND1_ENST00000461179.2_Intron	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	20										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						ATCTGAGAGCAAAAAGTTAAA	0.418																																						uc001gmo.2		NaN																	0					0						c.(58-60)AAA>GAA		hypothetical protein LOC126859 isoform 1							90.0	86.0	87.0					1																	179335702		2203	4300	6503	SO:0001583	missense	126859							g.chr1:179335702A>G	BX647935	CCDS30948.1	1q25.2	2011-02-18	2011-02-18	2011-02-18	ENSG00000162779	ENSG00000162779			26564	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 125"""	C1orf125		14702039	Standard	NM_144696		Approved	FLJ32940	uc001gmo.3	Q5T1B0	OTTHUMG00000035266	ENST00000367618.3:c.58A>G	1.37:g.179335702A>G	ENSP00000356590:p.Lys20Glu					C1orf125_uc009wxg.2_RNA|C1orf125_uc001gmn.1_Intron|C1orf125_uc010pnl.1_RNA|C1orf125_uc001gmp.2_Missense_Mutation_p.K20E	p.K20E	NM_144696	NP_653297	Q5T1B0	AXDN1_HUMAN			2	185	+			20					Q6AWB2|Q96LJ3|Q96M01	Missense_Mutation	SNP	ENST00000367618.3	37	c.58A>G	CCDS30948.1	.	.	.	.	.	.	.	.	.	.	A	15.89	2.965284	0.53507	.	.	ENSG00000162779	ENST00000367618;ENST00000508229;ENST00000457238;ENST00000508285	T;T	0.49432	2.11;0.78	4.39	3.15	0.36227	.	0.791132	0.10644	U	0.650691	T	0.41903	0.1179	L	0.47716	1.5	0.09310	N	1	P	0.46987	0.888	P	0.44561	0.453	T	0.17319	-1.0373	10	0.30854	T	0.27	0.4089	7.3574	0.26727	0.7764:0.2236:0.0:0.0	.	20	Q5T1B0	AXDN1_HUMAN	E	20	ENSP00000356590:K20E;ENSP00000416712:K20E	ENSP00000356590:K20E	K	+	1	0	AXDND1	177602325	0.008000	0.16893	0.120000	0.21714	0.106000	0.19336	2.209000	0.42806	1.927000	0.55829	0.247000	0.18012	AAA		0.418	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085312.1		NM_144696		9	49	0	0	0	0.013537	0	9	49		
PRG4	10216	broad.mit.edu	37	1	186276981	186276981	+	Silent	SNP	A	A	G			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr1:186276981A>G	ENST00000445192.2	+	7	2175	c.2130A>G	c.(2128-2130)aaA>aaG	p.K710K	PRG4_ENST00000367485.4_Silent_p.K617K|PRG4_ENST00000367483.4_Silent_p.K669K|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_Silent_p.K667K	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	710	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CTACCCCTAAAGGGACTGCTC	0.582																																						uc001gru.3		NaN																	0				skin(1)	1						c.(2128-2130)AAA>AAG		proteoglycan 4 isoform A							162.0	175.0	171.0					1																	186276981		2203	4300	6503	SO:0001819	synonymous_variant	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276981A>G	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.2130A>G	1.37:g.186276981A>G						PRG4_uc001grt.3_Silent_p.K669K|PRG4_uc009wyl.2_Silent_p.K617K|PRG4_uc009wym.2_Silent_p.K576K|PRG4_uc010poo.1_Intron	p.K710K	NM_005807	NP_005798	Q92954	PRG4_HUMAN			7	2181	+			710			59 X 8 AA repeats of K-X-P-X-P-T-T-X.|43; approximate.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Silent	SNP	ENST00000445192.2	37	c.2130A>G	CCDS1369.1																																																																																				0.582	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1		NM_005807		6	118	0	0	0	0.001168	0	6	118		
CR1	1378	broad.mit.edu	37	1	207758216	207758216	+	Missense_Mutation	SNP	G	G	A	rs200621891		TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr1:207758216G>A	ENST00000367049.4	+	33	5525	c.5525G>A	c.(5524-5526)cGt>cAt	p.R1842H	CR1_ENST00000367053.1_Missense_Mutation_p.R1392H|RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000367051.1_Missense_Mutation_p.R1392H|CR1_ENST00000367052.1_Missense_Mutation_p.R1392H|CR1_ENST00000400960.2_Missense_Mutation_p.R1392H|RP11-78B10.2_ENST00000596003.1_RNA	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1392	Sushi 28. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)	p.R1397H(3)|p.R1842H(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CTTTCTGTTCGTGCTGGTCAG	0.488																																						uc001hfy.2		NaN																	5	Substitution - Missense(5)		lung(2)|kidney(2)|large_intestine(1)	ovary(3)	3						c.(4174-4176)CGT>CAT		complement receptor 1 isoform F precursor		A	HIS/ARG,HIS/ARG	0,3914		0,0,1957	107.0	107.0	107.0		4175,5525	-4.0	0.0	1		107	1,8299		0,1,4149	no	missense,missense	CR1	NM_000573.3,NM_000651.4	29,29	0,1,6106	AA,AG,GG		0.012,0.0,0.0082	benign,benign	1392/2040,1842/2490	207758216	1,12213	1957	4150	6107	SO:0001583	missense	1378				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	g.chr1:207758216G>A	Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"""CD molecules"", ""Blood group antigens"", ""Complement system"""	2334	protein-coding gene	gene with protein product		120620	"""complement component (3b/4b) receptor 1, including Knops blood group system"""			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.5525G>A	1.37:g.207758216G>A	ENSP00000356016:p.Arg1842His					CR1_uc009xcl.1_Missense_Mutation_p.R942H|CR1_uc001hfx.2_Missense_Mutation_p.R1842H	p.R1392H	NM_000573	NP_000564	P17927	CR1_HUMAN			25	4315	+			1392			Extracellular (Potential).		Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Missense_Mutation	SNP	ENST00000367049.4	37	c.4175G>A	CCDS44308.1	.	.	.	.	.	.	.	.	.	.	g	2.643	-0.283651	0.05642	0.0	1.2E-4	ENSG00000203710	ENST00000367052;ENST00000367051;ENST00000367053;ENST00000400960;ENST00000534202;ENST00000367049	T;T;T;T;T;T	0.33654	1.4;1.52;1.4;1.4;1.54;1.4	3.03	-3.96	0.04106	.	.	.	.	.	T	0.28300	0.0699	N	0.19112	0.55	0.09310	N	1	D;D;B	0.76494	0.999;0.996;0.013	D;P;B	0.66602	0.945;0.504;0.003	T	0.14090	-1.0485	9	0.15066	T	0.55	.	0.1311	0.00074	0.2976:0.2403:0.1519:0.3102	.	1392;1392;1842	Q5SR44;P17927;E9PDY4	.;CR1_HUMAN;.	H	1392;1392;1392;1392;942;1842	ENSP00000356019:R1392H;ENSP00000356018:R1392H;ENSP00000356020:R1392H;ENSP00000383744:R1392H;ENSP00000436139:R942H;ENSP00000356016:R1842H	ENSP00000356016:R1842H	R	+	2	0	CR1	205824839	0.000000	0.05858	0.000000	0.03702	0.318000	0.28184	-0.184000	0.09698	-1.009000	0.03400	-1.770000	0.00663	CGT		0.488	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1		NM_000573		16	160	0	0	0	0.006122	0	16	160		
OR2T4	127074	broad.mit.edu	37	1	248525736	248525736	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr1:248525736G>T	ENST00000366475.1	+	1	854	c.854G>T	c.(853-855)gGg>gTg	p.G285V		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	285						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTCTTCTATGGGGCTGCCATC	0.552																																						uc001ieh.1		NaN																	0				central_nervous_system(1)	1						c.(853-855)GGG>GTG		olfactory receptor, family 2, subfamily T,							159.0	154.0	156.0					1																	248525736		2203	4300	6503	SO:0001583	missense	127074				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248525736G>T	BK004464	CCDS31113.1	1q44	2012-08-09			ENSG00000196944	ENSG00000196944		"""GPCR / Class A : Olfactory receptors"""	15016	protein-coding gene	gene with protein product							Standard	NM_001004696		Approved	OR2T4Q	uc001ieh.1	Q8NH00	OTTHUMG00000040453	ENST00000366475.1:c.854G>T	1.37:g.248525736G>T	ENSP00000355431:p.Gly285Val						p.G285V	NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	854	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		285			Helical; Name=6; (Potential).		Q6IEZ8	Missense_Mutation	SNP	ENST00000366475.1	37	c.854G>T	CCDS31113.1	.	.	.	.	.	.	.	.	.	.	G	9.695	1.152835	0.21371	.	.	ENSG00000196944	ENST00000366475	T	0.35605	1.3	3.0	3.0	0.34707	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47852	D	0.000211	T	0.58221	0.2107	M	0.75264	2.295	0.22081	N	0.999373	D	0.89917	1.0	D	0.91635	0.999	T	0.52343	-0.8588	10	0.62326	D	0.03	.	13.7621	0.62973	0.0:0.0:1.0:0.0	.	285	Q8NH00	OR2T4_HUMAN	V	285	ENSP00000355431:G285V	ENSP00000355431:G285V	G	+	2	0	OR2T4	246592359	0.000000	0.05858	0.976000	0.42696	0.052000	0.14988	0.267000	0.18552	1.498000	0.48600	0.585000	0.79938	GGG		0.552	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2		NM_001004696		14	130	1	0	2.94398e-08	0.007413	3.22585e-08	14	130		
E2F8	79733	broad.mit.edu	37	11	19258890	19258890	+	Missense_Mutation	SNP	A	A	C			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr11:19258890A>C	ENST00000527884.1	-	4	654	c.422T>G	c.(421-423)aTc>aGc	p.I141S	E2F8_ENST00000250024.4_Missense_Mutation_p.I141S|RP11-428C19.4_ENST00000527978.1_RNA	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	141					cell cycle comprising mitosis without cytokinesis (GO:0033301)|chorionic trophoblast cell differentiation (GO:0060718)|hepatocyte differentiation (GO:0070365)|negative regulation of cytokinesis (GO:0032466)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|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 transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GTCAAGGCAGATGTCATTATT	0.373																																						uc001mpm.2		NaN																	0				skin(1)	1						c.(421-423)ATC>AGC		E2F family member 8							103.0	97.0	99.0					11																	19258890		2199	4293	6492	SO:0001583	missense	79733				cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:19258890A>C		CCDS7849.1	11p15	2008-02-05			ENSG00000129173	ENSG00000129173			24727	protein-coding gene	gene with protein product		612047				15722552	Standard	NM_024680		Approved	FLJ23311	uc001mpo.2	A0AVK6	OTTHUMG00000166102	ENST00000527884.1:c.422T>G	11.37:g.19258890A>C	ENSP00000434199:p.Ile141Ser					E2F8_uc009yhv.2_RNA|E2F8_uc001mpn.3_Missense_Mutation_p.I141S|E2F8_uc001mpo.1_Missense_Mutation_p.I141S	p.I141S	NM_024680	NP_078956	A0AVK6	E2F8_HUMAN			4	944	-			141			Potential.		A8K9H3|Q2VPJ3|Q3C1U6|Q5BKY4|Q8N340|Q9H5M0	Missense_Mutation	SNP	ENST00000527884.1	37	c.422T>G	CCDS7849.1	.	.	.	.	.	.	.	.	.	.	A	27.3	4.817359	0.90790	.	.	ENSG00000129173	ENST00000527884;ENST00000531809;ENST00000396159;ENST00000250024	T;T	0.32515	1.45;1.45	5.51	5.51	0.81932	Transcription factor E2F/dimerisation partner (TDP) (1);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.65428	0.2690	M	0.92555	3.32	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.75102	-0.3436	10	0.87932	D	0	-20.6896	15.5845	0.76470	1.0:0.0:0.0:0.0	.	141	A0AVK6	E2F8_HUMAN	S	141	ENSP00000434199:I141S;ENSP00000250024:I141S	ENSP00000250024:I141S	I	-	2	0	E2F8	19215466	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.287000	0.95975	2.213000	0.71641	0.533000	0.62120	ATC		0.373	E2F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387830.1		NM_024680		7	36	0	0	0	0.004482	0	7	36		
OR8H3	390152	broad.mit.edu	37	11	55890296	55890296	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr11:55890296G>C	ENST00000313472.3	+	1	448	c.448G>C	c.(448-450)Gtg>Ctg	p.V150L		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	150						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					TGGGCCTTATGTGATTGGCTT	0.453																																						uc001nii.1		NaN																	0				ovary(2)	2						c.(448-450)GTG>CTG		olfactory receptor, family 8, subfamily H,							197.0	174.0	182.0					11																	55890296		2201	4296	6497	SO:0001583	missense	390152				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55890296G>C	AB065840	CCDS31519.1	11q11	2012-08-09			ENSG00000181761	ENSG00000181761		"""GPCR / Class A : Olfactory receptors"""	15309	protein-coding gene	gene with protein product							Standard	NM_001005201		Approved		uc001nii.1	Q8N146	OTTHUMG00000166833	ENST00000313472.3:c.448G>C	11.37:g.55890296G>C	ENSP00000323928:p.Val150Leu						p.V150L	NM_001005201	NP_001005201	Q8N146	OR8H3_HUMAN			1	448	+	Esophageal squamous(21;0.00693)		150			Helical; Name=4; (Potential).		Q6IFB7	Missense_Mutation	SNP	ENST00000313472.3	37	c.448G>C	CCDS31519.1	.	.	.	.	.	.	.	.	.	.	G	0.441	-0.898550	0.02472	.	.	ENSG00000181761	ENST00000313472	T	0.35236	1.32	3.62	-7.23	0.01480	GPCR, rhodopsin-like superfamily (1);	1.145600	0.06517	N	0.739019	T	0.10508	0.0257	N	0.03084	-0.415	0.09310	N	1	B	0.12013	0.005	B	0.17979	0.02	T	0.16247	-1.0409	10	0.10377	T	0.69	.	0.3421	0.00335	0.2813:0.1724:0.1664:0.38	.	150	Q8N146	OR8H3_HUMAN	L	150	ENSP00000323928:V150L	ENSP00000323928:V150L	V	+	1	0	OR8H3	55646872	0.000000	0.05858	0.000000	0.03702	0.200000	0.23975	-6.233000	0.00074	-3.209000	0.00215	0.173000	0.16961	GTG		0.453	OR8H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391541.1		NM_001005201		15	73	0	0	0	0.003163	0	15	73		
GLYATL2	219970	broad.mit.edu	37	11	58604562	58604562	+	Missense_Mutation	SNP	T	T	C	rs140678694	byFrequency	TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr11:58604562T>C	ENST00000287275.1	-	5	792	c.402A>G	c.(400-402)atA>atG	p.I134M	GLYATL2_ENST00000533636.1_5'UTR|GLYATL2_ENST00000532258.1_Missense_Mutation_p.I134M	NM_145016.3	NP_659453.3	Q8WU03	GLYL2_HUMAN	glycine-N-acyltransferase-like 2	134						endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	glycine N-acyltransferase activity (GO:0047961)			breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	GTAATTCCGGTATAAAGAGGA	0.388													T|||	8	0.00159744	0.0061	0.0	5008	,	,		22880	0.0		0.0	False		,,,				2504	0.0					uc001nnd.3		NaN																	0				ovary(1)|skin(1)	2						c.(400-402)ATA>ATG		glycine-N-acyltransferase-like 2	Glycine(DB00145)	T	MET/ILE	27,3739		0,27,1856	185.0	166.0	172.0		402	-3.3	0.0	11	dbSNP_134	172	0,8230		0,0,4115	yes	missense	GLYATL2	NM_145016.3	10	0,27,5971	CC,CT,TT		0.0,0.7169,0.2251	benign	134/295	58604562	27,11969	1883	4115	5998	SO:0001583	missense	219970					mitochondrion	glycine N-acyltransferase activity	g.chr11:58604562T>C	AF426250	CCDS41649.1	11q12.1	2008-02-05				ENSG00000156689			24178	protein-coding gene	gene with protein product		614762				12477932	Standard	NM_145016		Approved	BXMAS2-10, MGC24009	uc001nnd.4	Q8WU03		ENST00000287275.1:c.402A>G	11.37:g.58604562T>C	ENSP00000287275:p.Ile134Met					GLYATL2_uc009ymq.2_Missense_Mutation_p.I134M	p.I134M	NM_145016	NP_659453	Q8WU03	GLYL2_HUMAN			5	533	-		Breast(21;0.0044)|all_epithelial(135;0.0216)	134					A5LGC7|Q86WC3|Q96AT2	Missense_Mutation	SNP	ENST00000287275.1	37	c.402A>G	CCDS41649.1	4	0.0018315018315018315	4	0.008130081300813009	0	0.0	0	0.0	0	0.0	T	0.006	-2.029799	0.00410	0.007169	0.0	ENSG00000156689	ENST00000287275;ENST00000532258	T;T	0.14266	2.52;2.52	1.67	-3.34	0.04943	Acyl-CoA N-acyltransferase (1);Glycine N-acyltransferase, N-terminal (1);	3.332360	0.01833	N	0.034808	T	0.02970	0.0088	N	0.03084	-0.415	0.09310	N	1	B	0.13145	0.007	B	0.08055	0.003	T	0.26677	-1.0096	10	0.05351	T	0.99	.	3.7301	0.08489	0.0:0.2562:0.4047:0.3391	.	134	Q8WU03	GLYL2_HUMAN	M	134	ENSP00000287275:I134M;ENSP00000434277:I134M	ENSP00000287275:I134M	I	-	3	3	GLYATL2	58361138	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.219000	0.02973	-1.234000	0.02548	-1.356000	0.01223	ATA		0.388	GLYATL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394599.1		NM_145016		5	68	0	0	0	0.000602	0	5	68		
SHANK2	22941	broad.mit.edu	37	11	70333340	70333340	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr11:70333340C>T	ENST00000423696.2	-	15	1957	c.1921G>A	c.(1921-1923)Gag>Aag	p.E641K	SHANK2_ENST00000449833.2_Missense_Mutation_p.E425K|SHANK2_ENST00000409161.1_Missense_Mutation_p.E424K|SHANK2_ENST00000338508.4_Missense_Mutation_p.E1021K			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	641					adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GGGCTGTCCTCCACGTTGGAC	0.627																																						uc001oqc.2		NaN																	0				ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						c.(3058-3060)GAG>AAG		SH3 and multiple ankyrin repeat domains 2							120.0	119.0	119.0					11																	70333340		2200	4294	6494	SO:0001583	missense	22941				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding	g.chr11:70333340C>T	AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14295	protein-coding gene	gene with protein product		603290	"""cortactin binding protein 1"""	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.1921G>A	11.37:g.70333340C>T	ENSP00000394536:p.Glu641Lys					SHANK2_uc010rqn.1_Missense_Mutation_p.E432K|SHANK2_uc001opz.2_Missense_Mutation_p.E425K|uc009ysn.1_Intron|SHANK2_uc001opy.2_Intron	p.E1020K	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)		21	3136	-			641					C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Missense_Mutation	SNP	ENST00000423696.2	37	c.3058G>A		.	.	.	.	.	.	.	.	.	.	C	26.6	4.751738	0.89753	.	.	ENSG00000162105	ENST00000449833;ENST00000409161;ENST00000424924;ENST00000338508;ENST00000423696;ENST00000433693;ENST00000294018	T;T;T;T;T;T	0.75704	0.2;0.16;0.73;-0.96;0.39;0.42	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	D	0.87442	0.6178	M	0.83223	2.63	0.80722	D	1	D;D;D	0.89917	0.998;0.999;1.0	D;D;D	0.91635	0.984;0.997;0.999	D	0.89496	0.3760	10	0.72032	D	0.01	.	18.0048	0.89207	0.0:1.0:0.0:0.0	.	641;1020;425	Q9UPX8;Q9UPX8-3;Q9UPX8-4	SHAN2_HUMAN;.;.	K	425;424;299;1021;641;659;644	ENSP00000399423:E425K;ENSP00000386491:E424K;ENSP00000402944:E299K;ENSP00000345193:E1021K;ENSP00000394536:E641K;ENSP00000294018:E644K	ENSP00000294018:E644K	E	-	1	0	SHANK2	70010988	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.289000	0.78701	2.271000	0.75665	0.561000	0.74099	GAG		0.627	SHANK2-203	KNOWN	basic	protein_coding	protein_coding			NM_012309		12	195	0	0	0	0.004007	0	12	195		
IQSEC3	440073	broad.mit.edu	37	12	248024	248024	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr12:248024G>A	ENST00000538872.1	+	4	1613	c.1495G>A	c.(1495-1497)Gtc>Atc	p.V499I	RP11-598F7.4_ENST00000505893.2_RNA|IQSEC3_ENST00000326261.4_Missense_Mutation_p.V499I|RP11-598F7.4_ENST00000508953.2_RNA|IQSEC3_ENST00000382841.2_Missense_Mutation_p.V196I			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	499					actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		GAACATATCCGTCTCCTCCTC	0.711																																						uc001qhw.1		NaN																	0				central_nervous_system(2)|large_intestine(1)|skin(1)	4						c.(586-588)GTC>ATC		IQ motif and Sec7 domain 3							43.0	37.0	39.0					12																	248024		2203	4299	6502	SO:0001583	missense	440073				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity	g.chr12:248024G>A	AB029033	CCDS31725.1, CCDS53728.1	12p13.33	2014-03-18			ENSG00000120645	ENSG00000120645			29193	protein-coding gene	gene with protein product		612118				10470851	Standard	NM_001170738		Approved	KIAA1110, MGC30156	uc001qhw.2	Q9UPP2	OTTHUMG00000167975	ENST00000538872.1:c.1495G>A	12.37:g.248024G>A	ENSP00000437554:p.Val499Ile					IQSEC3_uc001qhu.1_Missense_Mutation_p.V196I|IQSEC3_uc001qht.1_Missense_Mutation_p.V281I|uc001qhv.1_Intron	p.V196I	NM_015232	NP_056047	Q9UPP2	IQEC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)	1	592	+	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		499					A6NIF2|A6NKV9|Q8TB43	Missense_Mutation	SNP	ENST00000538872.1	37	c.586G>A	CCDS53728.1	.	.	.	.	.	.	.	.	.	.	G	13.69	2.311407	0.40895	.	.	ENSG00000120645	ENST00000538872;ENST00000326261;ENST00000382841	T;T;T	0.12672	2.66;2.66;2.75	4.95	4.95	0.65309	.	3.940250	0.00424	N	0.000077	T	0.29028	0.0721	M	0.66939	2.045	0.52099	D	0.99994	D;D	0.62365	0.985;0.991	B;P	0.46110	0.307;0.504	T	0.42275	-0.9461	10	0.27785	T	0.31	.	18.181	0.89777	0.0:0.0:1.0:0.0	.	499;196	Q9UPP2;Q9UPP2-2	IQEC3_HUMAN;.	I	499;499;196	ENSP00000437554:V499I;ENSP00000315662:V499I;ENSP00000372292:V196I	ENSP00000315662:V499I	V	+	1	0	IQSEC3	118285	1.000000	0.71417	0.996000	0.52242	0.223000	0.24884	4.907000	0.63300	2.291000	0.77112	0.561000	0.74099	GTC		0.711	IQSEC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397382.3		XM_495902		3	31	0	0	0	0.004672	0	3	31		
BAZ2A	11176	broad.mit.edu	37	12	57009072	57009072	+	Silent	SNP	G	G	C			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr12:57009072G>C	ENST00000551812.1	-	3	655	c.462C>G	c.(460-462)acC>acG	p.T154T	BAZ2A_ENST00000179765.5_Silent_p.T152T|BAZ2A_ENST00000379441.3_Silent_p.T154T|BAZ2A_ENST00000549884.1_Silent_p.T152T	NM_013449.3	NP_038477.2	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	154					chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA methylation (GO:0006306)|heterochromatin assembly involved in chromatin silencing (GO:0070869)|histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|histone H4 deacetylation (GO:0070933)|histone H4-K20 methylation (GO:0034770)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|nucleolus (GO:0005730)|rDNA heterochromatin (GO:0033553)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|lysine-acetylated histone binding (GO:0070577)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						TGGGACTCTGGGTACCGTTGG	0.517																																						uc001slq.1		NaN																	0					0						c.(460-462)ACC>ACG		bromodomain adjacent to zinc finger domain, 2A							64.0	64.0	64.0					12																	57009072		1887	4106	5993	SO:0001819	synonymous_variant	11176				chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding	g.chr12:57009072G>C	AB032254	CCDS44924.1, CCDS73483.1	12q13.3	2013-01-28				ENSG00000076108		"""Zinc fingers, PHD-type"""	962	protein-coding gene	gene with protein product	"""TTF-I interacting peptide 5"""	605682				10662543, 11532953	Standard	XM_005268596		Approved	KIAA0314, TIP5, WALp3	uc001slq.1	Q9UIF9	OTTHUMG00000170332	ENST00000551812.1:c.462C>G	12.37:g.57009072G>C						BAZ2A_uc001slp.1_Silent_p.T152T|BAZ2A_uc010sqr.1_Silent_p.T154T|BAZ2A_uc009zow.1_Silent_p.T152T	p.T154T	NM_013449	NP_038477	Q9UIF9	BAZ2A_HUMAN			3	656	-			154					B3KN66|O00536|O15030|Q68DI8|Q96H26	Silent	SNP	ENST00000551812.1	37	c.462C>G	CCDS44924.1																																																																																				0.517	BAZ2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408561.1		NM_013449		11	31	0	0	0	0.013537	0	11	31		
DNAH10	196385	broad.mit.edu	37	12	124416242	124416242	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr12:124416242G>A	ENST00000409039.3	+	74	12647	c.12622G>A	c.(12622-12624)Gaa>Aaa	p.E4208K	CCDC92_ENST00000544798.1_Intron|DNAH10OS_ENST00000514254.2_Intron	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	4208					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CAAAGAAATAGAAAACAAGAT	0.517																																						uc001uft.3		NaN																	0				ovary(3)|skin(2)|central_nervous_system(1)	6						c.(12622-12624)GAA>AAA		dynein, axonemal, heavy chain 10							66.0	68.0	67.0					12																	124416242		1903	4116	6019	SO:0001583	missense	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124416242G>A	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.12622G>A	12.37:g.124416242G>A	ENSP00000386770:p.Glu4208Lys					DNAH10_uc001ufu.3_Missense_Mutation_p.E121K	p.E4208K	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	74	12647	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		4208					C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.12622G>A	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	G	10.03	1.240173	0.22711	.	.	ENSG00000197653	ENST00000409039	T	0.08370	3.1	5.46	4.56	0.56223	Dynein heavy chain (1);	0.131887	0.51477	D	0.000094	T	0.08537	0.0212	L	0.31420	0.93	0.80722	D	1	B	0.24258	0.1	B	0.22152	0.038	T	0.12344	-1.0551	10	0.51188	T	0.08	.	15.8513	0.78934	0.0:0.1363:0.8637:0.0	.	4208	Q8IVF4	DYH10_HUMAN	K	4208	ENSP00000386770:E4208K	ENSP00000386770:E4208K	E	+	1	0	DNAH10	122982195	1.000000	0.71417	0.239000	0.24122	0.983000	0.72400	4.863000	0.62983	1.282000	0.44496	0.655000	0.94253	GAA		0.517	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3				7	26	0	0	0	0.001984	0	7	26		
RB1	5925	broad.mit.edu	37	13	49039215	49039215	+	Nonsense_Mutation	SNP	A	A	T			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr13:49039215A>T	ENST00000267163.4	+	22	2431	c.2293A>T	c.(2293-2295)Aaa>Taa	p.K765*		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	765	Domain B.|Interaction with LIMD1.|Pocket; binds T and E1A.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(12)|p.K765*(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	GCAGAGACTGAAAACAAATAT	0.333		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												uc001vcb.2		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	D|Mis|N|F|S	retinoblastoma gene			"""L, E, M, O"""		retinoblastoma|sarcoma|breast|small cell lung	retinoblastoma|sarcoma|breast|small cell lung		28	Whole gene deletion(15)|Unknown(12)|Substitution - Nonsense(1)	p.?(8)	bone(11)|breast(5)|haematopoietic_and_lymphoid_tissue(4)|urinary_tract(2)|adrenal_gland(1)|eye(1)|soft_tissue(1)|endometrium(1)|lung(1)|liver(1)	lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358						c.(2293-2295)AAA>TAA		retinoblastoma 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						69.0	71.0	70.0					13																	49039215		2203	4300	6503	SO:0001587	stop_gained	5925	Hereditary_Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:49039215A>T	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.2293A>T	13.37:g.49039215A>T	ENSP00000267163:p.Lys765*	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)					p.K765*	NM_000321	NP_000312	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	22	2459	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	765			Interaction with LIMD1.|Pocket; binds T and E1A.|Domain B.		A8K5E3|P78499|Q5VW46|Q8IZL4	Nonsense_Mutation	SNP	ENST00000267163.4	37	c.2293A>T	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	A	40	8.205998	0.98704	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	.	.	.	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-22.7924	15.5628	0.76262	1.0:0.0:0.0:0.0	.	.	.	.	X	744;765	.	ENSP00000267163:K765X	K	+	1	0	RB1	47937216	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.962000	0.93254	2.096000	0.63516	0.482000	0.46254	AAA		0.333	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1				9	20	0	0	0	0.010729	0	9	20		
UTP14C	9724	broad.mit.edu	37	13	52605023	52605023	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr13:52605023G>C	ENST00000521776.2	+	2	2816	c.2083G>C	c.(2083-2085)Gaa>Caa	p.E695Q		NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)	695					cell differentiation (GO:0030154)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|rRNA processing (GO:0006364)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)				breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		TCGGCAATTTGAAAGGACCAT	0.488																																						uc001vgb.2		NaN																	0				ovary(3)|large_intestine(1)|breast(1)	5						c.(2083-2085)GAA>CAA		UTP14, U3 small nucleolar ribonucleoprotein,							166.0	157.0	160.0					13																	52605023		2203	4300	6503	SO:0001583	missense	9724				cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis	nucleolus|small-subunit processome		g.chr13:52605023G>C	D87455	CCDS31978.1	13q12.2-q13.3	2010-11-23	2004-06-15	2004-06-16	ENSG00000253797	ENSG00000253797			20321	protein-coding gene	gene with protein product		608969	"""KIAA0266"""	KIAA0266		9039502, 16354793	Standard	NM_021645		Approved	2700066J21Rik	uc021rjw.1	Q5TAP6	OTTHUMG00000164353	ENST00000521776.2:c.2083G>C	13.37:g.52605023G>C	ENSP00000428619:p.Glu695Gln					UTP14C_uc001vgc.2_RNA	p.E695Q	NM_021645	NP_067677	Q5TAP6	UT14C_HUMAN		GBM - Glioblastoma multiforme(99;2.3e-08)	2	2618	+		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)	695					Q5FWG3|Q92555	Missense_Mutation	SNP	ENST00000521776.2	37	c.2083G>C	CCDS31978.1	.	.	.	.	.	.	.	.	.	.	G	18.73	3.687080	0.68157	.	.	ENSG00000253797	ENST00000521776	T	0.68479	-0.33	3.14	2.27	0.28462	.	0.000000	0.85682	D	0.000000	D	0.82737	0.5102	M	0.92555	3.32	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.82692	-0.0331	9	.	.	.	-21.9303	8.0717	0.30693	0.1301:0.0:0.8699:0.0	.	695	Q5TAP6	UT14C_HUMAN	Q	695	ENSP00000428619:E695Q	.	E	+	1	0	UTP14C	51503024	1.000000	0.71417	0.998000	0.56505	0.950000	0.60333	4.378000	0.59568	0.632000	0.30432	0.455000	0.32223	GAA		0.488	UTP14C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045049.2		NM_021645		6	126	0	0	0	0.00308	0	6	126		
DACH1	1602	broad.mit.edu	37	13	72204709	72204709	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr13:72204709C>T	ENST00000359684.2	-	3	1110	c.1111G>A	c.(1111-1113)Ggg>Agg	p.G371R	DACH1_ENST00000313174.7_Missense_Mutation_p.G371R|DACH1_ENST00000354591.4_Intron|DACH1_ENST00000305425.4_Missense_Mutation_p.G371R			Q9UI36	DACH1_HUMAN	dachshund family transcription factor 1	371	Interaction with SIX6 and HDAC3. {ECO:0000250}.				cell proliferation (GO:0008283)|development of primary female sexual characteristics (GO:0046545)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription by competitive promoter binding (GO:0010944)|respiratory gaseous exchange (GO:0007585)|suckling behavior (GO:0001967)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity involved in preinitiation complex assembly (GO:0001075)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		TTCATGTCCCCGTTTTCAGAG	0.378																																						uc010thn.1		NaN																	0				breast(1)	1						c.(1105-1107)GGG>AGG		dachshund homolog 1 isoform a							244.0	221.0	228.0					13																	72204709		1856	4100	5956	SO:0001583	missense	1602				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding	g.chr13:72204709C>T	AJ005670	CCDS41899.1, CCDS53874.1, CCDS53873.1	13q22	2014-02-03	2014-02-03	2004-04-02	ENSG00000165659	ENSG00000276644			2663	protein-coding gene	gene with protein product		603803	"""dachshund homolog (Drosophila)"", ""dachshund homolog 1 (Drosophila)"""	DACH		9933575, 10395809, 15057823	Standard	NM_004392		Approved		uc021rkj.1	Q9UI36	OTTHUMG00000017063	ENST00000359684.2:c.1111G>A	13.37:g.72204709C>T	ENSP00000352712:p.Gly371Arg					DACH1_uc010tho.1_Missense_Mutation_p.G369R|DACH1_uc010thp.1_Intron	p.G369R	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN		GBM - Glioblastoma multiforme(99;0.00032)	4	1528	-		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)	369			Interaction with SIX6 and HDAC3 (By similarity).		D0FY35|D0FY36|O75523|O75687|Q5VYY3|Q5VYY4|Q96SG3|Q96SG4|Q9H524|Q9UMH4	Missense_Mutation	SNP	ENST00000359684.2	37	c.1105G>A		.	.	.	.	.	.	.	.	.	.	C	31	5.059701	0.93846	.	.	ENSG00000165659	ENST00000305425;ENST00000313174;ENST00000359684;ENST00000377826	T;T;D	0.83075	1.3;1.39;-1.68	6.16	6.16	0.99307	.	0.107189	0.64402	D	0.000003	D	0.89136	0.6629	L	0.54323	1.7	0.80722	D	1	B;D	0.89917	0.15;1.0	B;D	0.64687	0.007;0.928	D	0.86175	0.1602	10	0.36615	T	0.2	-11.03	20.8598	0.99761	0.0:1.0:0.0:0.0	.	369;369	Q9UI36-3;Q9UI36-2	.;.	R	371	ENSP00000304994:G371R;ENSP00000318506:G371R;ENSP00000352712:G371R	ENSP00000304994:G371R	G	-	1	0	DACH1	71102710	1.000000	0.71417	0.999000	0.59377	0.913000	0.54294	7.395000	0.79876	2.937000	0.99478	0.650000	0.86243	GGG		0.378	DACH1-002	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000045240.1		NM_004392		4	167	0	0	0	0.000602	0	4	167		
MDGA2	161357	broad.mit.edu	37	14	47342656	47342656	+	Missense_Mutation	SNP	T	T	G			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr14:47342656T>G	ENST00000399232.2	-	14	2889	c.2525A>C	c.(2524-2526)cAc>cCc	p.H842P	MDGA2_ENST00000357362.3_Missense_Mutation_p.H613P|MDGA2_ENST00000399222.3_Missense_Mutation_p.H44P|MDGA2_ENST00000439988.3_Missense_Mutation_p.H911P|MDGA2_ENST00000426342.1_Missense_Mutation_p.H613P	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	842	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TCCATACATGTGATAAAAGAA	0.363																																						uc001wwj.3		NaN																	0				ovary(4)|large_intestine(1)|pancreas(1)	6						c.(2524-2526)CAC>CCC		MAM domain containing 1 isoform 1							128.0	122.0	124.0					14																	47342656		1845	4089	5934	SO:0001583	missense	161357				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		g.chr14:47342656T>G	AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19835	protein-coding gene	gene with protein product		611128	"""MAM domain containing 1"""	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.2525A>C	14.37:g.47342656T>G	ENSP00000382178:p.His842Pro					MDGA2_uc001wwh.3_Missense_Mutation_p.H44P|MDGA2_uc001wwi.3_Missense_Mutation_p.H613P|MDGA2_uc010ani.2_Missense_Mutation_p.H402P	p.H842P	NM_001113498	NP_001106970	Q7Z553	MDGA2_HUMAN			14	2721	-			842			MAM.		F6W3S7|J3KPX6	Missense_Mutation	SNP	ENST00000399232.2	37	c.2525A>C		.	.	.	.	.	.	.	.	.	.	T	21.8	4.207078	0.79127	.	.	ENSG00000139915	ENST00000439988;ENST00000426342;ENST00000399232;ENST00000399222;ENST00000357362	T;T;T;T;T	0.02552	4.25;4.25;4.25;4.25;4.25	4.92	4.92	0.64577	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.000000	0.53938	U	0.000049	T	0.24624	0.0597	H	0.96604	3.85	0.80722	D	1	D;D	0.62365	0.991;0.987	D;D	0.72075	0.97;0.976	T	0.34725	-0.9817	10	0.87932	D	0	.	13.6885	0.62531	0.0:0.0:0.0:1.0	.	613;842	F6W3S7;Q7Z553	.;MDGA2_HUMAN	P	842;613;911;44;613	ENSP00000400011:H842P;ENSP00000405456:H613P;ENSP00000382178:H911P;ENSP00000382168:H44P;ENSP00000349925:H613P	ENSP00000349925:H613P	H	-	2	0	MDGA2	46412406	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.655000	0.83696	1.980000	0.57719	0.383000	0.25322	CAC		0.363	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000073352.5		NM_182830		8	59	0	0	0	0.006214	0	8	59		
C15orf52	388115	broad.mit.edu	37	15	40627566	40627566	+	Silent	SNP	G	G	A			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr15:40627566G>A	ENST00000559313.1	-	11	1413	c.1398C>T	c.(1396-1398)caC>caT	p.H466H	C15orf52_ENST00000397536.2_Silent_p.H256H	NM_207380.2	NP_997263.2	Q6ZUT6	CO052_HUMAN	chromosome 15 open reading frame 52	466							poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		GCTCAGCCTGGTGATTGCTCC	0.657																																						uc001zlh.3		NaN																	0				large_intestine(1)	1						c.(1396-1398)CAC>CAT		hypothetical protein LOC388115							27.0	28.0	28.0					15																	40627566		2203	4299	6502	SO:0001819	synonymous_variant	388115							g.chr15:40627566G>A	AK124643	CCDS10055.2	15q15.1	2007-06-14			ENSG00000188549	ENSG00000188549			33488	protein-coding gene	gene with protein product							Standard	NM_207380		Approved	FLJ43339	uc001zlh.4	Q6ZUT6	OTTHUMG00000129981	ENST00000559313.1:c.1398C>T	15.37:g.40627566G>A						C15orf52_uc010ucn.1_Silent_p.H256H	p.H466H	NM_207380	NP_997263	Q6ZUT6	CO052_HUMAN		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)	11	1414	-		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	466					B9EIQ8|Q68DG9|Q6ZTM3|Q6ZU22	Silent	SNP	ENST00000559313.1	37	c.1398C>T	CCDS10055.2																																																																																				0.657	C15orf52-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319567.2		NM_207380		5	17	0	0	0	0.000602	0	5	17		
COPS2	9318	broad.mit.edu	37	15	49423006	49423006	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr15:49423006G>A	ENST00000388901.5	-	10	1028	c.955C>T	c.(955-957)Cag>Tag	p.Q319*	COPS2_ENST00000299259.6_Nonsense_Mutation_p.Q326*|COPS2_ENST00000542928.1_Nonsense_Mutation_p.Q255*	NM_001143887.1|NM_004236.3	NP_001137359.1|NP_004227.1	P61201	CSN2_HUMAN	COP9 signalosome subunit 2	319	PCI.				cell proliferation (GO:0008283)|cullin deneddylation (GO:0010388)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)	signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(2)	18		all_lung(180;0.0428)		all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05)		TCATTATTCTGATAGGCACTA	0.303																																					NSCLC(36;322 1063 10349 30082 48062)|Esophageal Squamous(122;685 1633 15569 21293 52803)	uc001zxf.2		NaN																	0				lung(1)	1						c.(955-957)CAG>TAG		COP9 constitutive photomorphogenic homolog							110.0	108.0	109.0					15																	49423006		2196	4293	6489	SO:0001587	stop_gained	9318				cullin deneddylation|transcription from RNA polymerase II promoter	cytoplasm|signalosome	protein binding|signal transducer activity	g.chr15:49423006G>A	AF212227	CCDS32235.1, CCDS45257.1	15q21.2	2013-03-14	2013-03-14						30747	protein-coding gene	gene with protein product		604508	"""COP9 constitutive photomorphogenic homolog subunit 2 (Arabidopsis)"""			7776974, 9535219	Standard	NM_004236		Approved	TRIP15, ALIEN, CSN2	uc001zxh.3	P61201		ENST00000388901.5:c.955C>T	15.37:g.49423006G>A	ENSP00000373553:p.Gln319*					COPS2_uc001zxh.2_Nonsense_Mutation_p.Q326*|COPS2_uc010ufa.1_Nonsense_Mutation_p.Q255*	p.Q319*	NM_004236	NP_004227	P61201	CSN2_HUMAN		all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05)	10	1034	-		all_lung(180;0.0428)	319			PCI.		O88950|Q15647|Q6FGP4|Q9BY54|Q9R249|Q9UNI2|Q9UNQ5	Nonsense_Mutation	SNP	ENST00000388901.5	37	c.955C>T	CCDS32235.1	.	.	.	.	.	.	.	.	.	.	G	38	7.126458	0.98081	.	.	ENSG00000166200	ENST00000299259;ENST00000388901;ENST00000542928	.	.	.	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-7.4517	19.3667	0.94466	0.0:0.0:1.0:0.0	.	.	.	.	X	326;319;255	.	ENSP00000299259:Q326X	Q	-	1	0	COPS2	47210298	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.772000	0.98984	2.638000	0.89438	0.655000	0.94253	CAG		0.303	COPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417840.1		NM_004236		5	24	0	0	0	0.000602	0	5	24		
GLDN	342035	broad.mit.edu	37	15	51675642	51675642	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr15:51675642G>T	ENST00000335449.6	+	3	481	c.425G>T	c.(424-426)gGa>gTa	p.G142V	GLDN_ENST00000396399.2_Missense_Mutation_p.G18V	NM_181789.2	NP_861454.2	Q6ZMI3	GLDN_HUMAN	gliomedin	142	Collagen-like 1.				clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|microvillus organization (GO:0032528)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		GGACCTTCTGGACCACCAGGT	0.502											OREG0023124	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002aba.2		NaN																	0				ovary(2)	2						c.(424-426)GGA>GTA		gliomedin							146.0	169.0	161.0					15																	51675642		2196	4293	6489	SO:0001583	missense	342035				cell differentiation|nervous system development	collagen|integral to membrane|plasma membrane		g.chr15:51675642G>T	AY358144	CCDS10140.2	15q15.3	2008-02-05	2005-10-06	2005-10-06	ENSG00000186417	ENSG00000186417			29514	protein-coding gene	gene with protein product		608603	"""collomin"""	COLM		16039564, 12642876	Standard	XM_005254338		Approved	CRG-L2, CLOM, colmedin, UNC-112	uc002aba.3	Q6ZMI3	OTTHUMG00000131746	ENST00000335449.6:c.425G>T	15.37:g.51675642G>T	ENSP00000335196:p.Gly142Val		OREG0023124	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	979	GLDN_uc010bez.1_Missense_Mutation_p.D125Y|GLDN_uc002abb.2_Missense_Mutation_p.G18V	p.G142V	NM_181789	NP_861454	Q6ZMI3	GLDN_HUMAN		all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)	3	594	+			142			Extracellular (Potential).|Collagen-like 1.		Q6UXZ7|Q7Z359	Missense_Mutation	SNP	ENST00000335449.6	37	c.425G>T	CCDS10140.2	.	.	.	.	.	.	.	.	.	.	G	13.98	2.399210	0.42512	.	.	ENSG00000186417	ENST00000335449;ENST00000396399;ENST00000537339	D;D	0.99353	-5.77;-5.77	4.42	4.42	0.53409	.	0.000000	0.40640	N	0.001042	D	0.99579	0.9848	H	0.96748	3.875	0.80722	D	1	D	0.67145	0.996	D	0.66716	0.946	D	0.97727	1.0200	10	0.87932	D	0	.	14.9064	0.70724	0.0:0.0:1.0:0.0	.	142	Q6ZMI3	GLDN_HUMAN	V	142;18;18	ENSP00000335196:G142V;ENSP00000379681:G18V	ENSP00000335196:G142V	G	+	2	0	GLDN	49462934	1.000000	0.71417	1.000000	0.80357	0.691000	0.40173	4.631000	0.61304	2.438000	0.82558	0.655000	0.94253	GGA		0.502	GLDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254667.2		NM_181789		17	130	1	0	2.39187e-15	0.008871	2.73737e-15	17	130		
CALML4	91860	broad.mit.edu	37	15	68492003	68492003	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr15:68492003G>T	ENST00000467889.1	-	3	364	c.180C>A	c.(178-180)ttC>ttA	p.F60L	RP11-315D16.2_ENST00000562767.1_Intron|CALML4_ENST00000540479.1_5'UTR|CALML4_ENST00000395465.3_Intron|CALML4_ENST00000448060.2_Intron	NM_033429.2	NP_219501.2	Q96GE6	CALL4_HUMAN	calmodulin-like 4	60	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.			F -> S (in Ref. 1; AAG48255). {ECO:0000305}.			calcium ion binding (GO:0005509)			large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	4						CATACAGGGAGAAGCATTCCT	0.627																																						uc002arb.2		NaN																	0					0						c.(178-180)TTC>TTA		calmodulin-like 4 isoform 1							65.0	70.0	68.0					15																	68492003		2049	4196	6245	SO:0001583	missense	91860						calcium ion binding	g.chr15:68492003G>T	AF308287	CCDS10226.2, CCDS42052.1, CCDS66808.1	15q22.31	2013-01-10			ENSG00000129007	ENSG00000129007		"""EF-hand domain containing"""	18445	protein-coding gene	gene with protein product							Standard	NM_033429		Approved	MGC4809, NY-BR-20	uc002arb.3	Q96GE6	OTTHUMG00000133287	ENST00000467889.1:c.180C>A	15.37:g.68492003G>T	ENSP00000419081:p.Phe60Leu					CALML4_uc002arc.2_Intron|CALML4_uc002ard.2_RNA|CALML4_uc002are.2_Intron|CALML4_uc010bhz.2_Intron	p.F60L	NM_033429	NP_219501	Q96GE6	CALL4_HUMAN			3	914	-			60	F -> S (in Ref. 1; AAG48255).		EF-hand 1.		B4DL15|F8W6Y4|Q6MZY3|Q6N048|Q9H286	Missense_Mutation	SNP	ENST00000467889.1	37	c.180C>A	CCDS10226.2	.	.	.	.	.	.	.	.	.	.	G	9.597	1.127795	0.20959	.	.	ENSG00000129007	ENST00000467889	D	0.92048	-2.96	4.84	3.93	0.45458	EF-hand-like domain (1);	0.000000	0.85682	U	0.000000	D	0.96228	0.8770	M	0.93808	3.46	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.95295	0.8398	10	0.87932	D	0	-16.1961	6.3172	0.21196	0.3293:0.0:0.6707:0.0	.	60	Q96GE6	CALL4_HUMAN	L	60	ENSP00000419081:F60L	ENSP00000419081:F60L	F	-	3	2	CALML4	66279057	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.569000	0.45973	1.179000	0.42884	0.561000	0.74099	TTC		0.627	CALML4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257067.3		NM_033429		4	95	1	0	2.7689e-08	0.001984	3.06663e-08	4	95		
HCN4	10021	broad.mit.edu	37	15	73616166	73616166	+	Silent	SNP	C	C	A			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr15:73616166C>A	ENST00000261917.3	-	8	3261	c.2268G>T	c.(2266-2268)gcG>gcT	p.A756A		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	756					blood circulation (GO:0008015)|cation transport (GO:0006812)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)	cAMP binding (GO:0030552)|cation channel activity (GO:0005261)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.A756A(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		GGACGCGGTGCGCGCAGTGGG	0.632																																						uc002avp.2		NaN																	1	Substitution - coding silent(1)		upper_aerodigestive_tract(1)	ovary(5)|liver(1)	6						c.(2266-2268)GCG>GCT		hyperpolarization activated cyclic							46.0	53.0	50.0					15																	73616166		2198	4297	6495	SO:0001819	synonymous_variant	10021				blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity	g.chr15:73616166C>A	AJ132429	CCDS10248.1	15q24.1	2011-07-05			ENSG00000138622	ENSG00000138622		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	16882	protein-coding gene	gene with protein product		605206				10228147, 10430953, 16382102	Standard	NM_005477		Approved		uc002avp.3	Q9Y3Q4	OTTHUMG00000137563	ENST00000261917.3:c.2268G>T	15.37:g.73616166C>A							p.A756A	NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN		COAD - Colon adenocarcinoma(1;0.142)	8	3262	-			756			Cytoplasmic (Potential).		Q9UMQ7	Silent	SNP	ENST00000261917.3	37	c.2268G>T	CCDS10248.1																																																																																				0.632	HCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268900.2		NM_005477		9	57	1	0	3.86212e-05	0.008291	4.01816e-05	9	57		
MKL2	57496	broad.mit.edu	37	16	14312706	14312706	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr16:14312706C>G	ENST00000341243.5	+	6	511	c.511C>G	c.(511-513)Cag>Gag	p.Q171E	MKL2_ENST00000318282.5_Missense_Mutation_p.Q182E|MKL2_ENST00000573051.1_Missense_Mutation_p.Q131E|MKL2_ENST00000574045.1_Missense_Mutation_p.Q182E|MKL2_ENST00000572567.1_Missense_Mutation_p.Q171E|MKL2_ENST00000571589.1_Missense_Mutation_p.Q182E			Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	171					blood vessel morphogenesis (GO:0048514)|cardiac muscle tissue development (GO:0048738)|embryonic organ development (GO:0048568)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|muscle organ development (GO:0007517)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TCCCCACACTCAGGGCGATTT	0.502																																						uc010uza.1		NaN																	0				ovary(3)|kidney(1)|pancreas(1)	5						c.(544-546)CAG>GAG		megakaryoblastic leukemia 2 protein							93.0	88.0	90.0					16																	14312706		2197	4300	6497	SO:0001583	missense	57496				cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity	g.chr16:14312706C>G	AB033069	CCDS32391.1	16p13.12	2012-11-29			ENSG00000186260	ENSG00000186260			29819	protein-coding gene	gene with protein product		609463				10574462	Standard	NM_014048		Approved	MRTF-B, FLJ31823	uc002dcg.3	Q9ULH7	OTTHUMG00000177379	ENST00000341243.5:c.511C>G	16.37:g.14312706C>G	ENSP00000345841:p.Gln171Glu					MKL2_uc002dcg.2_Missense_Mutation_p.Q182E|MKL2_uc002dch.2_Missense_Mutation_p.Q171E|MKL2_uc010uzb.1_Missense_Mutation_p.Q131E	p.Q182E	NM_014048	NP_054767	Q9ULH7	MKL2_HUMAN			8	699	+			171					A6ND53|B4DGT8|Q68CT1|Q6UB16|Q86WW2|Q8N226	Missense_Mutation	SNP	ENST00000341243.5	37	c.544C>G		.	.	.	.	.	.	.	.	.	.	C	9.169	1.020636	0.19433	.	.	ENSG00000186260	ENST00000318282;ENST00000389126;ENST00000341243	D;D	0.99853	-7.18;-7.18	5.61	5.61	0.85477	.	0.320112	0.28946	N	0.013633	D	0.99149	0.9706	L	0.43152	1.355	0.20196	N	0.999921	B;B;B;B	0.29301	0.241;0.094;0.015;0.012	B;B;B;B	0.28011	0.085;0.039;0.021;0.03	D	0.98074	1.0400	10	0.21540	T	0.41	-1.4266	11.9919	0.53180	0.0:0.9128:0.0:0.0872	.	131;182;171;182	Q9ULH7-2;B4DGT8;Q9ULH7;Q9ULH7-4	.;.;MKL2_HUMAN;.	E	182;171;171	ENSP00000339086:Q182E;ENSP00000345841:Q171E	ENSP00000339086:Q182E	Q	+	1	0	MKL2	14220207	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.001000	0.57046	2.663000	0.90544	0.650000	0.86243	CAG		0.502	MKL2-202	KNOWN	basic	protein_coding	protein_coding			NM_014048		7	50	0	0	0	0.004482	0	7	50		
NSMCE1	197370	broad.mit.edu	37	16	27268804	27268804	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr16:27268804C>T	ENST00000361439.4	-	2	187	c.88G>A	c.(88-90)Gaa>Aaa	p.E30K		NM_145080.3	NP_659547.2	Q8WV22	NSE1_HUMAN	non-SMC element 1 homolog (S. cerevisiae)	30	Interaction with NDNL2.				DNA recombination (GO:0006310)|DNA repair (GO:0006281)|intracellular signal transduction (GO:0035556)|positive regulation of response to DNA damage stimulus (GO:2001022)|protein ubiquitination (GO:0016567)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|Smc5-Smc6 complex (GO:0030915)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(3)	7						ACGTCCCATTCCTCTAGCACG	0.582																																						uc002doi.1		NaN																	0					0						c.(88-90)GAA>AAA		non-SMC element 1 homolog							111.0	118.0	116.0					16																	27268804		2120	4225	6345	SO:0001583	missense	197370				DNA recombination|DNA repair|intracellular signal transduction	nucleus	zinc ion binding	g.chr16:27268804C>T	AF161451	CCDS10628.2	16p12.1	2010-03-23	2006-07-05		ENSG00000169189	ENSG00000169189			29897	protein-coding gene	gene with protein product						11927594	Standard	XM_005255163		Approved	NSE1	uc002doi.1	Q8WV22	OTTHUMG00000131674	ENST00000361439.4:c.88G>A	16.37:g.27268804C>T	ENSP00000355077:p.Glu30Lys					NSMCE1_uc002doj.1_RNA	p.E30K	NM_145080	NP_659547	Q8WV22	NSE1_HUMAN			2	186	-			30					D3DWF6|Q9P045|Q9P049	Missense_Mutation	SNP	ENST00000361439.4	37	c.88G>A	CCDS10628.2	.	.	.	.	.	.	.	.	.	.	C	16.27	3.076876	0.55753	.	.	ENSG00000169189	ENST00000361439	T	0.35421	1.31	4.85	3.9	0.45041	.	0.400598	0.27176	N	0.020566	T	0.36663	0.0975	L	0.57536	1.79	0.29710	N	0.839509	D	0.63046	0.992	P	0.47603	0.551	T	0.28073	-1.0055	10	0.25751	T	0.34	.	9.0335	0.36273	0.0:0.9:0.0:0.1	.	30	Q8WV22	NSE1_HUMAN	K	30	ENSP00000355077:E30K	ENSP00000355077:E30K	E	-	1	0	NSMCE1	27176305	0.997000	0.39634	0.976000	0.42696	0.850000	0.48378	3.197000	0.51028	1.256000	0.44068	0.563000	0.77884	GAA		0.582	NSMCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254577.3		NM_145080		29	63	0	0	0	0.012213	0	29	63		
CBFA2T3	863	broad.mit.edu	37	16	88952449	88952449	+	Silent	SNP	G	G	A			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr16:88952449G>A	ENST00000268679.4	-	6	1209	c.813C>T	c.(811-813)gaC>gaT	p.D271D	RP11-830F9.5_ENST00000562405.1_RNA|RP11-830F9.5_ENST00000562574.1_RNA|CBFA2T3_ENST00000436887.2_Silent_p.D246D|CBFA2T3_ENST00000360302.2_Silent_p.D185D|CBFA2T3_ENST00000327483.5_Silent_p.D185D|RP11-830F9.5_ENST00000565053.1_RNA|RP11-830F9.5_ENST00000569249.1_RNA|CBFA2T3_ENST00000448839.1_Silent_p.D195D	NM_005187.5	NP_005178.4	O75081	MTG16_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 3	271	Mediates interaction with PDE7A (in isoform 2).|Mediates localization to the nucleus. {ECO:0000250}.				cell proliferation (GO:0008283)|granulocyte differentiation (GO:0030851)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0275)		AGGCGCTGGCGTCCAGCAGGA	0.657			T	RUNX1	AML																																	uc002fmm.1		NaN		Dom	yes		16	16q24	863	T	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 3 (MTG-16)"""			L	RUNX1		AML		0				large_intestine(3)|ovary(1)	4						c.(811-813)GAC>GAT		myeloid translocation gene on chromosome 16							42.0	31.0	35.0					16																	88952449		2175	4274	6449	SO:0001819	synonymous_variant	863				cell proliferation|granulocyte differentiation	Golgi membrane|nucleolus|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:88952449G>A	AF052213	CCDS10972.1, CCDS10973.1	16q24	2013-10-16			ENSG00000129993	ENSG00000129993		"""Zinc fingers, MYND-type"", ""A-kinase anchor proteins"""	1537	protein-coding gene	gene with protein product	"""myeloid translocation gene 8 and 16b"""	603870				9790752, 20150326	Standard	NM_005187		Approved	MTGR2, ZMYND4, MTG16	uc002fmm.2	O75081	OTTHUMG00000137864	ENST00000268679.4:c.813C>T	16.37:g.88952449G>A						CBFA2T3_uc002fml.1_Silent_p.D185D|CBFA2T3_uc010cif.1_Silent_p.D210D|CBFA2T3_uc002fmn.1_Silent_p.D246D	p.D271D	NM_005187	NP_005178	O75081	MTG16_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0275)	6	999	-			271			Mediates localization to the nucleus (By similarity).|Mediates interaction with PDE7A (in isoform 2).		D3DX78|O60615|O60616|O60617|O75082|O75107|O75108|Q0P5Z6|Q6P5W6	Silent	SNP	ENST00000268679.4	37	c.813C>T	CCDS10972.1																																																																																				0.657	CBFA2T3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269545.2		NM_005187		2	3	0	0	0	0.004672	0	2	3		
ASGR1	432	broad.mit.edu	37	17	7077348	7077348	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr17:7077348C>T	ENST00000269299.3	-	8	1032	c.633G>A	c.(631-633)tgG>tgA	p.W211*	ASGR1_ENST00000380920.4_Nonsense_Mutation_p.W110*|ASGR1_ENST00000572879.1_Nonsense_Mutation_p.W71*|ASGR1_ENST00000574388.1_Nonsense_Mutation_p.W172*	NM_001197216.2|NM_001671.4	NP_001184145.1|NP_001662.1	P07306	ASGR1_HUMAN	asialoglycoprotein receptor 1	211	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cellular response to extracellular stimulus (GO:0031668)|receptor-mediated endocytosis (GO:0006898)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	asialoglycoprotein receptor activity (GO:0004873)|carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|urinary_tract(1)	10						GGAGGCCCATCCAGGTGTTCA	0.647																																						uc002ges.3		NaN																	0				breast(1)|central_nervous_system(1)	2						c.(631-633)TGG>TGA		asialoglycoprotein receptor 1							108.0	106.0	107.0					17																	7077348		2203	4300	6503	SO:0001587	stop_gained	432				receptor-mediated endocytosis	integral to plasma membrane	asialoglycoprotein receptor activity|metal ion binding|sugar binding	g.chr17:7077348C>T		CCDS11089.1, CCDS56017.1	17p13-p11	2011-08-30			ENSG00000141505	ENSG00000141505		"""C-type lectin domain containing"""	742	protein-coding gene	gene with protein product		108360					Standard	NM_001671		Approved	CLEC4H1	uc002ges.4	P07306	OTTHUMG00000102159	ENST00000269299.3:c.633G>A	17.37:g.7077348C>T	ENSP00000269299:p.Trp211*					ASGR1_uc010clx.1_Nonsense_Mutation_p.W110*	p.W211*	NM_001671	NP_001662	P07306	ASGR1_HUMAN			8	1043	-			211			Extracellular (Probable).|C-type lectin.		I3L1X1	Nonsense_Mutation	SNP	ENST00000269299.3	37	c.633G>A	CCDS11089.1	.	.	.	.	.	.	.	.	.	.	C	32	5.112472	0.94339	.	.	ENSG00000141505	ENST00000269299;ENST00000380920	.	.	.	3.9	3.9	0.45041	.	0.000000	0.47852	D	0.000206	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.2423	0.65966	0.0:1.0:0.0:0.0	.	.	.	.	X	211;172	.	ENSP00000269299:W211X	W	-	3	0	ASGR1	7018072	1.000000	0.71417	1.000000	0.80357	0.721000	0.41392	5.198000	0.65147	2.491000	0.84063	0.196000	0.17591	TGG		0.647	ASGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220004.3		NM_001671		12	67	0	0	0	0.00245	0	12	67		
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr17:7577538C>T	ENST00000269305.4	-	7	932	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000420246.2_Missense_Mutation_p.R248Q	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	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		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.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)	GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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)	uc002gim.2	R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIN87_STOMACH)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NIHOVCAR3_OVARY)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(HCC70_BREAST)|R248Q(KYSE150_OESOPHAGUS)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PC14_LUNG)	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		725	Substitution - Missense(698)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(2)|Complex - compound substitution(1)	p.R248Q(523)|p.R248W(443)|p.R248L(63)|p.R248P(12)|p.R248G(11)|p.R248R(10)|p.0?(7)|p.R155Q(4)|p.N247_R248delNR(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248_P250delRRP(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)	large_intestine(138)|breast(83)|haematopoietic_and_lymphoid_tissue(74)|lung(71)|upper_aerodigestive_tract(63)|central_nervous_system(46)|oesophagus(37)|urinary_tract(37)|ovary(36)|stomach(35)|endometrium(23)|skin(18)|prostate(11)|bone(10)|biliary_tract(9)|liver(9)|pancreas(7)|vulva(3)|kidney(3)|cervix(3)|peritoneum(2)|thyroid(2)|soft_tissue(1)|pituitary(1)|adrenal_gland(1)|small_intestine(1)|thymus(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM920675	TP53	M	rs11540652	c.(742-744)CGG>CAG	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a		C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	152.0	112.0	126.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	743,743,743,743,347,347,347	3.7	1.0	17	dbSNP_120	126	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	43,43,43,43,43,43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	248/394,248/394,248/347,248/342,116/262,116/210,116/215	7577538	1,13005	2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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|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|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 regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577538C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.743G>A	17.37:g.7577538C>T	ENSP00000269305:p.Arg248Gln	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_uc002gig.1_Missense_Mutation_p.R248Q|TP53_uc002gih.2_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q	p.R248Q	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	937	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	248		R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|NR -> IP (in a sporadic cancer; somatic mutation).	|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity).		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.743G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.822907	0.90873	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99864	-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28	4.62	3.65	0.41850	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99840	0.9927	M	0.88640	2.97	0.58432	A	0.999994	D;D;D;D;D;D	0.89917	1.0;0.994;1.0;1.0;1.0;1.0	D;P;D;D;D;D	0.91635	0.996;0.882;0.999;0.995;0.996;0.995	D	0.96819	0.9602	9	0.72032	D	0.01	-9.5643	10.6687	0.45745	0.0:0.9059:0.0:0.0941	rs11540652;rs11540652	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	Q	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248Q;ENSP00000352610:R248Q;ENSP00000269305:R248Q;ENSP00000398846:R248Q;ENSP00000391127:R248Q;ENSP00000391478:R248Q;ENSP00000425104:R116Q;ENSP00000423862:R155Q	ENSP00000269305:R248Q	R	-	2	0	TP53	7518263	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	5.884000	0.69729	1.305000	0.44909	0.462000	0.41574	CGG		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1		NM_000546		22	64	0	0	0	0.010818	0	22	64		
ALOXE3	59344	broad.mit.edu	37	17	8012598	8012598	+	Missense_Mutation	SNP	A	A	C			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr17:8012598A>C	ENST00000448843.2	-	12	1796	c.1456T>G	c.(1456-1458)Tac>Gac	p.Y486D	ALOXE3_ENST00000318227.3_Missense_Mutation_p.Y618D|ALOXE3_ENST00000380149.1_Missense_Mutation_p.Y642D	NM_021628.2	NP_067641.2	Q9BYJ1	LOXE3_HUMAN	arachidonate lipoxygenase 3	486	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|ceramide biosynthetic process (GO:0046513)|establishment of skin barrier (GO:0061436)|fat cell differentiation (GO:0045444)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipoxygenase pathway (GO:0019372)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|sensory perception of pain (GO:0019233)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)	hepoxilin A3 synthase activity (GO:0051120)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	31						AAATTGGTGTAGGTGAAGTGG	0.657																																						uc010cnr.2		NaN																	0				skin(3)|lung(1)|central_nervous_system(1)	5						c.(1456-1458)TAC>GAC		arachidonate lipoxygenase 3 isoform 2							63.0	57.0	59.0					17																	8012598		2203	4300	6503	SO:0001583	missense	59344				leukotriene biosynthetic process		iron ion binding|lipoxygenase activity	g.chr17:8012598A>C	AJ269499	CCDS11130.1, CCDS54084.1	17p13.1	2009-07-10			ENSG00000179148	ENSG00000179148	1.13.11.-	"""Arachidonate lipoxygenases"""	13743	protein-coding gene	gene with protein product		607206					Standard	NM_021628		Approved	eLOX3, E-LOX	uc010vuo.2	Q9BYJ1	OTTHUMG00000108179	ENST00000448843.2:c.1456T>G	17.37:g.8012598A>C	ENSP00000400581:p.Tyr486Asp					ALOXE3_uc002gka.2_Missense_Mutation_p.Y642D|ALOXE3_uc010vuo.1_Missense_Mutation_p.Y618D	p.Y486D	NM_021628	NP_067641	Q9BYJ1	LOXE3_HUMAN			12	1826	-			486			Lipoxygenase.		B2R981|B7Z3W0|Q3ZB74|Q9H4F2|Q9HC22	Missense_Mutation	SNP	ENST00000448843.2	37	c.1456T>G	CCDS11130.1	.	.	.	.	.	.	.	.	.	.	a	25.4	4.639126	0.87760	.	.	ENSG00000179148	ENST00000380149;ENST00000318227;ENST00000448843	D;D;D	0.92299	-3.01;-3.01;-3.01	4.89	4.89	0.63831	Lipoxygenase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.96291	0.8790	M	0.90309	3.105	0.58432	D	0.999999	P;D;D	0.54601	0.901;0.967;0.967	P;D;D	0.70935	0.643;0.971;0.971	D	0.96821	0.9604	10	0.87932	D	0	-24.0489	12.1368	0.53977	1.0:0.0:0.0:0.0	.	618;486;486	B7Z3W0;Q9BYJ1;B3KVD2	.;LOXE3_HUMAN;.	D	642;618;486	ENSP00000369494:Y642D;ENSP00000314879:Y618D;ENSP00000400581:Y486D	ENSP00000314879:Y618D	Y	-	1	0	ALOXE3	7953323	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.803000	0.91915	2.075000	0.62263	0.454000	0.30748	TAC		0.657	ALOXE3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441475.1				3	42	0	0	0	0.004672	0	3	42		
SLC35G3	146861	broad.mit.edu	37	17	33521026	33521026	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr17:33521026G>A	ENST00000297307.5	-	1	386	c.301C>T	c.(301-303)Cga>Tga	p.R101*	RP11-799D4.2_ENST00000590144.1_RNA	NM_152462.2	NP_689675.1	Q8N808	S35G3_HUMAN	solute carrier family 35, member G3	101	EamA 1.					integral component of membrane (GO:0016021)											GCCCGGCTTCGGATGTCAGGA	0.607																																						uc002hjd.2		NaN																	0					0						c.(301-303)CGA>TGA		acyl-malonyl condensing enzyme 1							130.0	136.0	134.0					17																	33521026		2203	4300	6503	SO:0001587	stop_gained	146861					integral to membrane		g.chr17:33521026G>A	AK097473	CCDS11293.1	17q21.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000164729	ENSG00000164729		"""Solute carriers"""	26848	protein-coding gene	gene with protein product			"""transmembrane protein 21A"", ""acyl-malonyl condensing enzyme 1"""	TMEM21A, AMAC1			Standard	NM_152462		Approved	FLJ40154	uc002hjd.2	Q8N808	OTTHUMG00000132929	ENST00000297307.5:c.301C>T	17.37:g.33521026G>A	ENSP00000297307:p.Arg101*						p.R101*	NM_152462	NP_689675	Q8N808	AMAC1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0917)	1	387	-			101			DUF6 1.		B9EGE9	Nonsense_Mutation	SNP	ENST00000297307.5	37	c.301C>T	CCDS11293.1	.	.	.	.	.	.	.	.	.	.	G	13.51	2.257485	0.39896	.	.	ENSG00000164729	ENST00000297307	.	.	.	.	.	.	.	0.000000	0.33040	N	0.005345	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.1069	2.8356	0.05513	3.0E-4:2.0E-4:0.5012:0.4983	.	.	.	.	X	101	.	ENSP00000297307:R101X	R	-	1	2	SLC35G3	30545139	0.069000	0.21087	0.093000	0.20910	0.093000	0.18481	1.014000	0.29950	0.064000	0.16427	0.064000	0.15345	CGA		0.607	SLC35G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256445.2		NM_152462		43	133	0	0	0	0.011902	0	43	133		
GGNBP2	79893	broad.mit.edu	37	17	34942489	34942489	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr17:34942489C>G	ENST00000304718.4	+	12	1818	c.1502C>G	c.(1501-1503)tCt>tGt	p.S501C		NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2	501					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		GGTGATGACTCTTGTGTTCAT	0.368																																						uc002hnb.2		NaN																	0				ovary(2)	2						c.(1501-1503)TCT>TGT		zinc finger protein 403							135.0	142.0	139.0					17																	34942489		2203	4300	6503	SO:0001583	missense	79893				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle		g.chr17:34942489C>G	AF126964	CCDS11314.1	17q21.1	2014-05-06	2007-08-20	2007-08-20	ENSG00000005955	ENSG00000278311			19357	protein-coding gene	gene with protein product		612275	"""zinc finger protein 403"""	ZNF403		11728448	Standard	NM_024835		Approved	ZFP403, LZK1, FLJ22561, FLJ21230, DIF-3, DIF3	uc002hnb.3	Q9H3C7	OTTHUMG00000188440	ENST00000304718.4:c.1502C>G	17.37:g.34942489C>G	ENSP00000307617:p.Ser501Cys					GGNBP2_uc002hna.2_3'UTR|GGNBP2_uc002hnc.1_Missense_Mutation_p.S330C	p.S501C	NM_024835	NP_079111	Q9H3C7	GGNB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)	12	1751	+		Breast(25;0.00957)|Ovarian(249;0.17)	501					B2RPK7|Q96T90|Q9GZR8|Q9H767	Missense_Mutation	SNP	ENST00000304718.4	37	c.1502C>G	CCDS11314.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.159125	0.78226	.	.	ENSG00000005955	ENST00000304718	.	.	.	5.6	5.6	0.85130	.	0.180899	0.50627	D	0.000113	T	0.47581	0.1453	N	0.19112	0.55	0.80722	D	1	P;P	0.48407	0.91;0.8	P;B	0.46758	0.526;0.303	T	0.51513	-0.8696	9	0.59425	D	0.04	-1.7894	17.7949	0.88567	0.0:1.0:0.0:0.0	.	501;501	A8K3S2;Q9H3C7	.;GGNB2_HUMAN	C	501	.	ENSP00000307617:S501C	S	+	2	0	GGNBP2	32016602	0.996000	0.38824	1.000000	0.80357	0.982000	0.71751	6.692000	0.74578	2.640000	0.89533	0.561000	0.74099	TCT		0.368	GGNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256684.2		NM_024835		17	75	0	0	0	0.008871	0	17	75		
GJC1	10052	broad.mit.edu	37	17	42882050	42882050	+	Missense_Mutation	SNP	T	T	G			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr17:42882050T>G	ENST00000426548.1	-	3	1405	c.1136A>C	c.(1135-1137)aAc>aCc	p.N379T	GJC1_ENST00000592524.1_Missense_Mutation_p.N379T|GJC1_ENST00000590758.1_Missense_Mutation_p.N379T|GJC1_ENST00000330514.4_Missense_Mutation_p.N379T	NM_001080383.1|NM_005497.3	NP_001073852.1|NP_005488.2	P36383	CXG1_HUMAN	gap junction protein, gamma 1, 45kDa	379					atrial cardiac muscle cell action potential (GO:0086014)|cardiac muscle tissue development (GO:0048738)|cell development (GO:0048468)|cell-cell junction assembly (GO:0007043)|gap junction assembly (GO:0016264)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vasculogenesis (GO:0001570)|visual perception (GO:0007601)	connexon complex (GO:0005922)|endoplasmic reticulum membrane (GO:0005789)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)|ion channel activity (GO:0005216)			NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1)	19		Prostate(33;0.0959)				AGTGCTTTTGTTGGACCCAGC	0.517																																						uc002ihj.2		NaN																	0					0						c.(1135-1137)AAC>ACC		connexin 45							166.0	151.0	156.0					17																	42882050		2203	4300	6503	SO:0001583	missense	10052				cellular membrane organization|gap junction assembly|muscle contraction|synaptic transmission|transport	connexon complex|integral to membrane		g.chr17:42882050T>G	U03493	CCDS11487.1	17q21.31	2008-02-04	2007-11-06	2007-11-06		ENSG00000182963		"""Ion channels / Gap junction proteins (connexins)"""	4280	protein-coding gene	gene with protein product	"""connexin 45"""	608655	"""gap junction protein, alpha 7, 45kDa"""	GJA7		7966354	Standard	NM_005497		Approved	CX45	uc002ihl.3	P36383		ENST00000426548.1:c.1136A>C	17.37:g.42882050T>G	ENSP00000411528:p.Asn379Thr					GJC1_uc002ihk.2_Missense_Mutation_p.N379T|GJC1_uc002ihl.2_Missense_Mutation_p.N379T|GJC1_uc010czx.2_Missense_Mutation_p.N379T|GJC1_uc010czy.1_Missense_Mutation_p.N240T	p.N379T	NM_005497	NP_005488	P36383	CXG1_HUMAN			2	1647	-		Prostate(33;0.0959)	379			Cytoplasmic (Potential).		B3KW68|Q4VAY0	Missense_Mutation	SNP	ENST00000426548.1	37	c.1136A>C	CCDS11487.1	.	.	.	.	.	.	.	.	.	.	T	11.12	1.544581	0.27563	.	.	ENSG00000182963	ENST00000426548;ENST00000330514	D;D	0.97924	-4.61;-4.61	5.48	4.33	0.51752	.	0.501739	0.21764	N	0.069465	D	0.93396	0.7894	N	0.19112	0.55	0.43214	D	0.995087	B	0.10296	0.003	B	0.09377	0.004	D	0.90363	0.4375	10	0.30854	T	0.27	.	11.4607	0.50208	0.0:0.0:0.1504:0.8496	.	379	P36383	CXG1_HUMAN	T	379	ENSP00000411528:N379T;ENSP00000333193:N379T	ENSP00000333193:N379T	N	-	2	0	GJC1	40237576	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.958000	0.40402	2.077000	0.62373	0.533000	0.62120	AAC		0.517	GJC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448661.1		NM_005497		15	199	0	0	0	0.007413	0	15	199		
TOM1L1	10040	broad.mit.edu	37	17	52981124	52981124	+	Silent	SNP	C	C	A			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr17:52981124C>A	ENST00000575882.1	+	2	467	c.114C>A	c.(112-114)atC>atA	p.I38I	TOM1L1_ENST00000575333.1_Silent_p.I38I|TOM1L1_ENST00000570371.1_Silent_p.I38I|TOM1L1_ENST00000348161.4_Intron|TOM1L1_ENST00000540336.1_5'UTR|TOM1L1_ENST00000445275.2_Silent_p.I38I|TOM1L1_ENST00000536554.1_Intron|TOM1L1_ENST00000572405.1_Silent_p.I3I|TOM1L1_ENST00000572158.1_Silent_p.I38I	NM_005486.2	NP_005477.2	O75674	TM1L1_HUMAN	target of myb1 (chicken)-like 1	38	VHS. {ECO:0000255|PROSITE- ProRule:PRU00218}.				activation of protein kinase activity (GO:0032147)|intracellular protein transport (GO:0006886)|negative regulation of mitosis (GO:0045839)|positive regulation of protein autophosphorylation (GO:0031954)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|membrane (GO:0016020)	clathrin binding (GO:0030276)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|ubiquitin binding (GO:0043130)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	15						TCATGCACATCTGTGACATAA	0.428																																						uc002iud.2		NaN																	0				ovary(1)	1						c.(112-114)ATC>ATA		target of myb1-like 1							127.0	113.0	118.0					17																	52981124		2203	4300	6503	SO:0001819	synonymous_variant	10040				intracellular protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	cytosol|endosome membrane|Golgi stack|lysosome	SH3 domain binding|ubiquitin binding	g.chr17:52981124C>A	AJ010071	CCDS11582.1	17q23.2	2008-01-03	2007-01-12			ENSG00000141198			11983	protein-coding gene	gene with protein product		604701	"""target of myb1 (chicken) homolog-like 1"""			10329004, 15611048, 17977829	Standard	NM_005486		Approved	SRCASM	uc002iud.2	O75674		ENST00000575882.1:c.114C>A	17.37:g.52981124C>A						TOM1L1_uc002iub.2_Silent_p.I3I|TOM1L1_uc002iuc.2_Silent_p.I38I|TOM1L1_uc010dca.1_Silent_p.I38I|TOM1L1_uc010wnb.1_Silent_p.I38I|TOM1L1_uc010wnc.1_Intron|TOM1L1_uc010dbz.2_Intron|TOM1L1_uc010wnd.1_Translation_Start_Site	p.I38I	NM_005486	NP_005477	O75674	TM1L1_HUMAN			2	289	+			38			VHS.		Q53G06|Q8N749	Silent	SNP	ENST00000575882.1	37	c.114C>A	CCDS11582.1																																																																																				0.428	TOM1L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439029.2		NM_005486		6	78	1	0	3.09899e-07	0.004482	3.29067e-07	6	78		
BCAS3	54828	broad.mit.edu	37	17	58952079	58952079	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr17:58952079C>T	ENST00000390652.5	+	9	672	c.641C>T	c.(640-642)aCg>aTg	p.T214M	BCAS3_ENST00000588462.1_Missense_Mutation_p.T214M|BCAS3_ENST00000408905.3_Missense_Mutation_p.T214M|BCAS3_ENST00000407086.3_Missense_Mutation_p.T214M|BCAS3_ENST00000589222.1_Missense_Mutation_p.T214M	NM_001099432.1	NP_001092902.1			breast carcinoma amplified sequence 3									p.T214M(1)		NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			TGTACTTTCACGAAGAAATTC	0.328																																						uc002iyv.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|central_nervous_system(2)|skin(1)	5						c.(640-642)ACG>ATG		breast carcinoma amplified sequence 3 isoform 1							108.0	102.0	104.0					17																	58952079		1832	4085	5917	SO:0001583	missense	54828					nucleus		g.chr17:58952079C>T	AF361219	CCDS11626.1, CCDS45749.1	17q23.2	2013-06-25			ENSG00000141376	ENSG00000141376		"""WD repeat domain containing"""	14347	protein-coding gene	gene with protein product		607470				12378525	Standard	NM_017679		Approved	FLJ20128	uc002iyv.4	Q9H6U6	OTTHUMG00000180064	ENST00000390652.5:c.641C>T	17.37:g.58952079C>T	ENSP00000375067:p.Thr214Met					BCAS3_uc010wow.1_Intron|BCAS3_uc002iyu.3_Missense_Mutation_p.T214M|BCAS3_uc002iyw.3_Missense_Mutation_p.T210M	p.T214M	NM_001099432	NP_001092902	Q9H6U6	BCAS3_HUMAN	BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)		9	750	+			214						Missense_Mutation	SNP	ENST00000390652.5	37	c.641C>T	CCDS45749.1	.	.	.	.	.	.	.	.	.	.	C	15.00	2.704749	0.48412	.	.	ENSG00000141376	ENST00000390652;ENST00000407086;ENST00000405070;ENST00000408905	T;T;T	0.06608	3.28;3.28;3.28	5.42	5.42	0.78866	.	0.099710	0.64402	D	0.000002	T	0.05273	0.0140	N	0.21448	0.665	0.80722	D	1	P;B;B	0.36974	0.576;0.007;0.062	B;B;B	0.20955	0.032;0.007;0.024	T	0.40021	-0.9585	10	0.66056	D	0.02	.	18.8155	0.92075	0.0:1.0:0.0:0.0	.	214;214;214	Q9H6U6-7;Q9H6U6;Q9H6U6-2	.;BCAS3_HUMAN;.	M	214	ENSP00000375067:T214M;ENSP00000385323:T214M;ENSP00000386173:T214M	ENSP00000375067:T214M	T	+	2	0	BCAS3	56306861	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.978000	0.63799	2.537000	0.85549	0.655000	0.94253	ACG		0.328	BCAS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449578.1		NM_017679		4	36	0	0	0	0.000602	0	4	36		
BPTF	2186	broad.mit.edu	37	17	65871019	65871019	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr17:65871019A>G	ENST00000321892.4	+	4	1808	c.1747A>G	c.(1747-1749)Act>Gct	p.T583A	BPTF_ENST00000306378.6_Missense_Mutation_p.T583A|BPTF_ENST00000424123.3_Missense_Mutation_p.T444A|BPTF_ENST00000335221.5_Missense_Mutation_p.T583A			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	583					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			CAAGAATGAGACTGAGAATGA	0.363																																						uc002jgf.2		NaN																	0				ovary(2)|skin(2)	4						c.(1747-1749)ACT>GCT		bromodomain PHD finger transcription factor							104.0	108.0	107.0					17																	65871019		2203	4300	6503	SO:0001583	missense	2186				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding	g.chr17:65871019A>G	AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"""Zinc fingers, PHD-type"""	3581	protein-coding gene	gene with protein product		601819	"""fetal Alzheimer antigen"""	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.1747A>G	17.37:g.65871019A>G	ENSP00000315454:p.Thr583Ala					BPTF_uc002jge.2_Missense_Mutation_p.T583A|BPTF_uc010wqm.1_Missense_Mutation_p.T583A	p.T583A	NM_182641	NP_872579	Q12830	BPTF_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)		4	1808	+	all_cancers(12;6e-11)		696			Interaction with KEAP1.		Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	ENST00000321892.4	37	c.1747A>G		.	.	.	.	.	.	.	.	.	.	A	10.25	1.299359	0.23650	.	.	ENSG00000171634	ENST00000544491;ENST00000306378;ENST00000335221;ENST00000321892;ENST00000544778	T;T;T	0.60797	0.19;0.16;0.16	4.79	-3.22	0.05125	.	.	.	.	.	T	0.18467	0.0443	N	0.00707	-1.245	0.18873	N	0.999988	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.001	T	0.17961	-1.0352	9	0.25751	T	0.34	-3.2272	2.929	0.05793	0.2186:0.1573:0.4696:0.1546	.	583;583;583	Q12830;Q12830-2;Q12830-4	BPTF_HUMAN;.;.	A	488;583;583;583;444	ENSP00000307208:T583A;ENSP00000334351:T583A;ENSP00000315454:T583A	ENSP00000307208:T583A	T	+	1	0	BPTF	63301481	0.431000	0.25546	0.971000	0.41717	0.856000	0.48823	0.655000	0.24933	-0.258000	0.09446	0.482000	0.46254	ACT		0.363	BPTF-201	KNOWN	basic	protein_coding	protein_coding			NM_182641, NM_004459		6	45	0	0	0	0.001984	0	6	45		
HID1	283987	broad.mit.edu	37	17	72954437	72954437	+	Silent	SNP	G	G	A			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr17:72954437G>A	ENST00000425042.2	-	11	1454	c.1377C>T	c.(1375-1377)gcC>gcT	p.A459A		NM_030630.2	NP_085133.1	Q8IV36	HID1_HUMAN	HID1 domain containing	459					intracellular protein transport (GO:0006886)|response to brefeldin A (GO:0031001)	cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|extracellular vesicular exosome (GO:0070062)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi medial cisterna (GO:0005797)|Golgi trans cisterna (GO:0000138)											TGAGCAGGTCGGCGTGGGTCC	0.662											OREG0024721	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002jmj.3		NaN																	0					0						c.(1375-1377)GCC>GCT		hypothetical protein LOC283987							57.0	44.0	48.0					17																	72954437		2203	4300	6503	SO:0001819	synonymous_variant	283987					integral to membrane|plasma membrane	protein binding	g.chr17:72954437G>A		CCDS32726.1	17q25.1	2012-10-10	2012-10-10	2012-10-10	ENSG00000167861	ENSG00000167861			15736	protein-coding gene	gene with protein product	"""downregulated in multiple cancer 1"""	605752	"""chromosome 17 open reading frame 28"""	C17orf28		11281419, 21337012	Standard	NM_030630		Approved	DMC1, HID-1	uc002jmj.4	Q8IV36	OTTHUMG00000166490	ENST00000425042.2:c.1377C>T	17.37:g.72954437G>A			OREG0024721	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1141	C17orf28_uc010wrs.1_Silent_p.A258A	p.A459A	NM_030630	NP_085133	Q8IV36	CQ028_HUMAN			11	1526	-	all_lung(278;0.151)|Lung NSC(278;0.185)		459					Q8N5L6|Q8TE83|Q9NT34	Silent	SNP	ENST00000425042.2	37	c.1377C>T	CCDS32726.1																																																																																				0.662	HID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390011.2		NM_030630		10	22	0	0	0	0.003163	0	10	22		
SMAD4	4089	broad.mit.edu	37	18	48575203	48575203	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr18:48575203T>A	ENST00000342988.3	+	3	935	c.397T>A	c.(397-399)Tac>Aac	p.Y133N	RP11-729L2.2_ENST00000590722.2_3'UTR|SMAD4_ENST00000588745.1_Missense_Mutation_p.Y133N|SMAD4_ENST00000398417.2_Missense_Mutation_p.Y133N|SMAD4_ENST00000452201.2_Missense_Mutation_p.Y133N	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	133	MH1. {ECO:0000255|PROSITE- ProRule:PRU00438}.				atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.?(4)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TCCATATCACTACGAACGAGT	0.348																																						uc010xdp.1		NaN																	40	Whole gene deletion(36)|Unknown(4)	p.0?(35)|p.?(4)	pancreas(26)|large_intestine(3)|stomach(3)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|oesophagus(1)|NS(1)	pancreas(170)|large_intestine(108)|thyroid(19)|lung(11)|small_intestine(9)|upper_aerodigestive_tract(8)|biliary_tract(8)|ovary(7)|breast(6)|stomach(5)|oesophagus(3)|testis(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|kidney(1)|urinary_tract(1)|vulva(1)|skin(1)|NS(1)	369						c.(397-399)TAC>AAC		mothers against decapentaplegic homolog 4							138.0	123.0	128.0					18																	48575203		2203	4300	6503	SO:0001583	missense	4089	Juvenile_Polyposis|Hereditary_Hemorrhagic_Telangiectasia			BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	g.chr18:48575203T>A	U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"""SMADs"""	6770	protein-coding gene	gene with protein product		600993	"""MAD, mothers against decapentaplegic homolog 4 (Drosophila)"", ""SMAD, mothers against DPP homolog 4 (Drosophila)"""	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.397T>A	18.37:g.48575203T>A	ENSP00000341551:p.Tyr133Asn					SMAD4_uc010xdo.1_RNA	p.Y133N	NM_005359	NP_005350	Q13485	SMAD4_HUMAN		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)	3	935	+		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)	133			MH1.		A8K405	Missense_Mutation	SNP	ENST00000342988.3	37	c.397T>A	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	T	27.1	4.804635	0.90623	.	.	ENSG00000141646	ENST00000452201;ENST00000342988;ENST00000544926;ENST00000398417	T;T;T	0.80304	-1.36;-1.36;-1.36	5.48	5.48	0.80851	MAD homology, MH1 (3);MAD homology 1, Dwarfin-type (2);	0.000000	0.85682	D	0.000000	D	0.92041	0.7478	M	0.93978	3.48	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93949	0.7230	10	0.87932	D	0	.	14.5339	0.67947	0.0:0.0:0.0:1.0	.	133	Q13485	SMAD4_HUMAN	N	133	ENSP00000409551:Y133N;ENSP00000341551:Y133N;ENSP00000381452:Y133N	ENSP00000341551:Y133N	Y	+	1	0	SMAD4	46829201	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.014000	0.88676	2.053000	0.61076	0.477000	0.44152	TAC		0.348	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3		NM_005359		13	35	0	0	0	0.004007	0	13	35		
DPP9	91039	broad.mit.edu	37	19	4704288	4704288	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr19:4704288C>T	ENST00000598800.1	-	7	873	c.368G>A	c.(367-369)cGg>cAg	p.R123Q	DPP9_ENST00000262960.9_Missense_Mutation_p.R152Q|DPP9_ENST00000594671.1_Missense_Mutation_p.R123Q|DPP9_ENST00000597849.1_Missense_Mutation_p.R152Q			Q86TI2	DPP9_HUMAN	dipeptidyl-peptidase 9	123						cytoplasm (GO:0005737)|membrane (GO:0016020)	aminopeptidase activity (GO:0004177)|identical protein binding (GO:0042802)|serine-type peptidase activity (GO:0008236)			cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		CTCCTCCTCCCGAGAGTAGAC	0.642																																						uc002mba.2		NaN																	0				skin(1)	1						c.(454-456)CGG>CAG		dipeptidylpeptidase 9							61.0	67.0	65.0					19																	4704288		1993	4158	6151	SO:0001583	missense	91039				proteolysis	cytosol|membrane	aminopeptidase activity|serine-type peptidase activity	g.chr19:4704288C>T	AF452102	CCDS45928.1	19p13.3	2014-06-11	2006-01-12		ENSG00000142002	ENSG00000142002			18648	protein-coding gene	gene with protein product		608258	"""dipeptidylpeptidase 9"""				Standard	NM_139159		Approved		uc002mba.3	Q86TI2	OTTHUMG00000182040	ENST00000598800.1:c.368G>A	19.37:g.4704288C>T	ENSP00000469603:p.Arg123Gln					DPP9_uc002mbb.2_Missense_Mutation_p.R152Q|DPP9_uc002mbc.2_Missense_Mutation_p.R152Q	p.R152Q	NM_139159	NP_631898	Q86TI2	DPP9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)	6	713	-		Hepatocellular(1079;0.137)	123					O75273|O75868|Q1ZZB8|Q6AI37|Q6UAL0|Q6ZMT2|Q6ZNJ5|Q8N2J7|Q8N3F5|Q8WXD8|Q96NT8|Q9BVR3	Missense_Mutation	SNP	ENST00000598800.1	37	c.455G>A		.	.	.	.	.	.	.	.	.	.	C	35	5.577579	0.96565	.	.	ENSG00000142002	ENST00000357909;ENST00000262960	T	0.29917	1.55	4.64	4.64	0.57946	.	0.000000	0.85682	D	0.000000	T	0.54647	0.1871	M	0.76170	2.325	0.80722	D	1	D;D	0.89917	1.0;0.999	D;P	0.71870	0.975;0.895	T	0.54207	-0.8328	10	0.37606	T	0.19	-27.1061	16.6576	0.85232	0.0:1.0:0.0:0.0	.	123;152	Q86TI2;Q1ZZB8	DPP9_HUMAN;.	Q	231;152	ENSP00000262960:R152Q	ENSP00000262960:R152Q	R	-	2	0	DPP9	4655288	0.998000	0.40836	0.961000	0.40146	0.863000	0.49368	7.606000	0.82863	2.424000	0.82194	0.561000	0.74099	CGG		0.642	DPP9-026	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000459343.2				14	78	0	0	0	0.008871	0	14	78		
MUC16	94025	broad.mit.edu	37	19	8999557	8999557	+	Missense_Mutation	SNP	T	T	G			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr19:8999557T>G	ENST00000397910.4	-	56	40821	c.40618A>C	c.(40618-40620)Aag>Cag	p.K13540Q	MUC16_ENST00000380951.5_Missense_Mutation_p.K181Q	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13542	SEA 10. {ECO:0000255|PROSITE- ProRule:PRU00188}.			Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCCCCATCCTTCTTGGGCCTG	0.597																																						uc002mkp.2		NaN																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(40618-40620)AAG>CAG		mucin 16							69.0	60.0	63.0					19																	8999557		1921	4122	6043	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:8999557T>G	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.40618A>C	19.37:g.8999557T>G	ENSP00000381008:p.Lys13540Gln					MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Missense_Mutation_p.K357Q|MUC16_uc010xki.1_RNA	p.K13540Q	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			56	40822	-			13542	Missing (in Ref. 3; AAK74120).		SEA 10.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.40618A>C	CCDS54212.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	13.16|13.16	2.155013|2.155013	0.38021|0.38021	.|.	.|.	ENSG00000181143|ENSG00000181143	ENST00000397910;ENST00000380951|ENST00000542240	T;T|.	0.45276|.	0.9;0.9|.	3.48|3.48	2.41|2.41	0.29592|0.29592	SEA (2);|.	.|.	.|.	.|.	.|.	T|T	0.64649|0.64649	0.2617|0.2617	M|M	0.87827|0.87827	2.91|2.91	.|.	.|.	.|.	P;D|.	0.56521|.	0.818;0.976|.	P;D|.	0.73380|.	0.462;0.98|.	T|T	0.70256|0.70256	-0.4922|-0.4922	8|4	0.52906|.	T|.	0.07|.	-7.3549|-7.3549	5.7864|5.7864	0.18336|0.18336	0.0:0.1313:0.0:0.8687|0.0:0.1313:0.0:0.8687	.|.	21185;13540|.	Q8WXI7;B5ME49|.	MUC16_HUMAN;.|.	Q|S	13540;181|379	ENSP00000381008:K13540Q;ENSP00000370338:K181Q|.	ENSP00000370338:K181Q|.	K|R	-|-	1|3	0|2	MUC16|MUC16	8860557|8860557	0.027000|0.027000	0.19231|0.19231	0.003000|0.003000	0.11579|0.11579	0.003000|0.003000	0.03518|0.03518	2.575000|2.575000	0.46025|0.46025	0.487000|0.487000	0.27698|0.27698	0.454000|0.454000	0.30748|0.30748	AAG|AGA		0.597	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1		NM_024690		7	41	0	0	0	0.001984	0	7	41		
DHX34	9704	broad.mit.edu	37	19	47884572	47884572	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr19:47884572G>A	ENST00000328771.4	+	16	3638	c.3289G>A	c.(3289-3291)Ggg>Agg	p.G1097R		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	1097					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	membrane (GO:0016020)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		CCCACAGGATGGGCCCCCAGG	0.672																																						uc010xyn.1		NaN																	0				ovary(4)|upper_aerodigestive_tract(1)	5						c.(3289-3291)GGG>AGG		DEAH (Asp-Glu-Ala-His) box polypeptide 34							29.0	33.0	32.0					19																	47884572		2203	4299	6502	SO:0001583	missense	9704					intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding	g.chr19:47884572G>A	D50924	CCDS12700.1	19q13.3	2003-06-13	2003-06-13	2003-06-13	ENSG00000134815	ENSG00000134815		"""DEAH-boxes"""	16719	protein-coding gene	gene with protein product		615475	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 34"""	DDX34		10708517, 8590280	Standard	NM_014681		Approved	KIAA0134	uc010xyn.2	Q14147	OTTHUMG00000149959	ENST00000328771.4:c.3289G>A	19.37:g.47884572G>A	ENSP00000331907:p.Gly1097Arg					DHX34_uc010xyo.1_Missense_Mutation_p.G226R	p.G1097R	NM_014681	NP_055496	Q14147	DHX34_HUMAN		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)	16	3630	+		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)	1097					B4DMY8	Missense_Mutation	SNP	ENST00000328771.4	37	c.3289G>A	CCDS12700.1	.	.	.	.	.	.	.	.	.	.	G	8.496	0.863251	0.17250	.	.	ENSG00000134815	ENST00000328771	T	0.02606	4.23	4.72	2.56	0.30785	.	1.091170	0.07104	N	0.841075	T	0.02047	0.0064	N	0.14661	0.345	0.09310	N	1	B	0.23735	0.09	B	0.19148	0.024	T	0.49428	-0.8941	10	0.19147	T	0.46	-6.3944	6.1478	0.20294	0.1017:0.1904:0.7078:0.0	.	1097	Q14147	DHX34_HUMAN	R	1097	ENSP00000331907:G1097R	ENSP00000331907:G1097R	G	+	1	0	DHX34	52576403	0.001000	0.12720	0.000000	0.03702	0.164000	0.22412	1.011000	0.29911	0.581000	0.29539	0.561000	0.74099	GGG		0.672	DHX34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314313.3		NM_014681		10	36	0	0	0	0.010729	0	10	36		
SYT5	6861	broad.mit.edu	37	19	55690386	55690386	+	Silent	SNP	C	C	A			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr19:55690386C>A	ENST00000354308.3	-	2	393	c.24G>T	c.(22-24)ccG>ccT	p.P8P	SYT5_ENST00000537500.1_Silent_p.P8P|CTD-2587H24.5_ENST00000591665.1_RNA|SYT5_ENST00000590851.1_Missense_Mutation_p.R63L	NM_003180.2	NP_003171.2	O00445	SYT5_HUMAN	synaptotagmin V	8					calcium ion-dependent exocytosis (GO:0017156)|energy reserve metabolic process (GO:0006112)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|dense core granule (GO:0031045)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|metal ion binding (GO:0046872)|transporter activity (GO:0005215)			kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		ATGGAGGCCCCGGGGTTGGGG	0.667																																						uc002qjm.1		NaN																	0					0						c.(22-24)CCG>CCT		synaptotagmin V							18.0	26.0	23.0					19																	55690386		2200	4296	6496	SO:0001819	synonymous_variant	6861				energy reserve metabolic process|regulation of insulin secretion|synaptic transmission	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr19:55690386C>A	X96783	CCDS12919.1, CCDS74455.1	19q13.42	2014-07-02			ENSG00000129990	ENSG00000129990		"""Synaptotagmins"""	11513	protein-coding gene	gene with protein product	"""synaptotagmin 5"""	600782				9177789	Standard	XM_006723338		Approved		uc002qjn.1	O00445	OTTHUMG00000180669	ENST00000354308.3:c.24G>T	19.37:g.55690386C>A						SYT5_uc002qjp.2_Missense_Mutation_p.R63L|SYT5_uc002qjn.1_Silent_p.P8P|SYT5_uc002qjo.1_Silent_p.P8P	p.P8P	NM_003180	NP_003171	O00445	SYT5_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)	1	1084	-			8			Vesicular (Potential).		B3KWJ8|B7Z300|Q86X72	Silent	SNP	ENST00000354308.3	37	c.24G>T	CCDS12919.1	.	.	.	.	.	.	.	.	.	.	C	9.984	1.228864	0.22542	.	.	ENSG00000129990	ENST00000543844	.	.	.	3.54	-7.09	0.01553	.	.	.	.	.	T	0.22126	0.0533	.	.	.	0.31281	N	0.690594	B	0.17038	0.02	B	0.12837	0.008	T	0.39702	-0.9601	7	0.10111	T	0.7	.	9.7146	0.40268	0.0:0.1924:0.6303:0.1773	.	63	B7Z300	.	L	63	.	ENSP00000441336:R63L	R	-	2	0	SYT5	60382198	0.011000	0.17503	0.179000	0.23059	0.212000	0.24457	-2.713000	0.00816	-1.261000	0.02462	-0.310000	0.09108	CGG		0.667	SYT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452501.1		NM_003180		5	14	1	0	3.09899e-07	0.004482	3.29067e-07	5	14		
NLRP4	147945	broad.mit.edu	37	19	56370501	56370501	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr19:56370501T>C	ENST00000301295.6	+	3	2164	c.1742T>C	c.(1741-1743)aTt>aCt	p.I581T	NLRP4_ENST00000346986.5_Missense_Mutation_p.I581T|NLRP4_ENST00000587891.1_Missense_Mutation_p.I506T	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	581					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TTTCATATTATTGACAACGTG	0.418																																						uc002qmd.3		NaN																	0				ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1)	15						c.(1741-1743)ATT>ACT		NLR family, pyrin domain containing 4							81.0	74.0	76.0					19																	56370501		2203	4300	6503	SO:0001583	missense	147945						ATP binding	g.chr19:56370501T>C	AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22943	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4"", ""cancer/testis antigen 58"""	609645	"""NACHT, leucine rich repeat and PYD containing 4"""	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.1742T>C	19.37:g.56370501T>C	ENSP00000301295:p.Ile581Thr					NLRP4_uc002qmf.2_Missense_Mutation_p.I506T|NLRP4_uc010etf.2_Missense_Mutation_p.I412T	p.I581T	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN		GBM - Glioblastoma multiforme(193;0.0606)	3	2164	+		Colorectal(82;0.0002)|Ovarian(87;0.221)	581					Q86W87|Q96AY6	Missense_Mutation	SNP	ENST00000301295.6	37	c.1742T>C	CCDS12936.1	.	.	.	.	.	.	.	.	.	.	T	0.357	-0.941367	0.02322	.	.	ENSG00000160505	ENST00000301295;ENST00000346986	D;D	0.87029	-2.2;-2.2	3.47	-6.94	0.01633	.	.	.	.	.	T	0.67069	0.2854	N	0.22421	0.69	0.09310	N	1	B;B;B	0.31054	0.005;0.306;0.121	B;B;B	0.24701	0.002;0.055;0.023	T	0.57883	-0.7734	9	0.12766	T	0.61	.	1.1917	0.01866	0.2136:0.1283:0.2035:0.4546	.	581;506;581	Q96MN2-2;Q96MN2-3;Q96MN2	.;.;NALP4_HUMAN	T	581	ENSP00000301295:I581T;ENSP00000344787:I581T	ENSP00000301295:I581T	I	+	2	0	NLRP4	61062313	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.369000	0.00495	-3.251000	0.00204	-1.251000	0.01509	ATT		0.418	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2		NM_134444		5	37	0	0	0	0.000602	0	5	37		
CAD	790	broad.mit.edu	37	2	27444089	27444089	+	Missense_Mutation	SNP	T	T	G			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr2:27444089T>G	ENST00000403525.1	+	3	370	c.226T>G	c.(226-228)Ttt>Gtt	p.F76V	CAD_ENST00000264705.4_Missense_Mutation_p.F76V			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0	CIDE-N. {ECO:0000255|PROSITE- ProRule:PRU00447}.				apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTACAGTGGTTTGAATCCTC	0.532																																						uc002rji.2		NaN																	0				ovary(4)|large_intestine(2)|kidney(2)|lung(1)|pancreas(1)	10						c.(226-228)TTT>GTT		carbamoylphosphate synthetase 2/aspartate	L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)						63.0	59.0	60.0					2																	27444089		2203	4300	6503	SO:0001583	missense	790				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity	g.chr2:27444089T>G	D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.226T>G	2.37:g.27444089T>G	ENSP00000384510:p.Phe76Val					CAD_uc010eyw.2_Missense_Mutation_p.F76V	p.F76V	NM_004341	NP_004332	P27708	PYR1_HUMAN			3	388	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		76			GATase (Glutamine amidotransferase).		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	ENST00000403525.1	37	c.226T>G		.	.	.	.	.	.	.	.	.	.	T	25.0	4.591951	0.86953	.	.	ENSG00000084774	ENST00000264705;ENST00000403525	D;D	0.94092	-3.35;-3.35	5.38	4.22	0.49857	Carbamoyl-phosphate synthase, small subunit, N-terminal (3);	0.183637	0.48286	D	0.000186	D	0.94866	0.8341	M	0.71206	2.165	0.58432	D	0.999998	D;P	0.54964	0.969;0.672	P;P	0.59424	0.857;0.486	D	0.94103	0.7364	10	0.62326	D	0.03	0.2207	9.5806	0.39486	0.0:0.084:0.0:0.916	.	76;76	F8VPD4;P27708	.;PYR1_HUMAN	V	76	ENSP00000264705:F76V;ENSP00000384510:F76V	ENSP00000264705:F76V	F	+	1	0	CAD	27297593	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.270000	0.78493	0.996000	0.38943	0.459000	0.35465	TTT		0.532	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1				9	56	0	0	0	0.001855	0	9	56		
KCNG3	170850	broad.mit.edu	37	2	42720041	42720041	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr2:42720041C>A	ENST00000306078.1	-	1	1196	c.601G>T	c.(601-603)Gcc>Tcc	p.A201S	MTA3_ENST00000405592.1_5'Flank|KCNG3_ENST00000394973.4_Missense_Mutation_p.A201S	NM_133329.5|NM_172344.2	NP_579875.1|NP_758847.1	Q8TAE7	KCNG3_HUMAN	potassium voltage-gated channel, subfamily G, member 3	201					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			central_nervous_system(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	6						CGGTTGTCGGCGGCTGCGTTG	0.687																																						uc002rsn.2		NaN																	0				central_nervous_system(1)	1						c.(601-603)GCC>TCC		potassium voltage-gated channel, subfamily G,							21.0	17.0	19.0					2																	42720041		2181	4260	6441	SO:0001583	missense	170850					endoplasmic reticulum|voltage-gated potassium channel complex	protein binding	g.chr2:42720041C>A	AB070604	CCDS1809.1, CCDS42674.1	2p21	2011-07-05			ENSG00000171126	ENSG00000171126		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18306	protein-coding gene	gene with protein product		606767				11852086, 16382104	Standard	NM_133329		Approved	Kv6.3	uc002rsn.3	Q8TAE7	OTTHUMG00000128604	ENST00000306078.1:c.601G>T	2.37:g.42720041C>A	ENSP00000304127:p.Ala201Ser					MTA3_uc002rso.1_5'Flank|KCNG3_uc002rsm.2_Missense_Mutation_p.A201S	p.A201S	NM_133329	NP_579875	Q8TAE7	KCNG3_HUMAN			1	1197	-			201					Q53SC1	Missense_Mutation	SNP	ENST00000306078.1	37	c.601G>T	CCDS1809.1	.	.	.	.	.	.	.	.	.	.	C	13.43	2.235970	0.39498	.	.	ENSG00000171126	ENST00000306078;ENST00000394973	D;D	0.97328	-4.24;-4.34	4.27	4.27	0.50696	.	.	.	.	.	D	0.91240	0.7239	N	0.04508	-0.205	0.29003	N	0.88738	B;B	0.27594	0.114;0.182	B;B	0.31946	0.065;0.138	D	0.83744	0.0205	9	0.15499	T	0.54	.	13.792	0.63148	0.0:0.8334:0.1666:0.0	.	201;201	Q8TAE7;Q8TAE7-2	KCNG3_HUMAN;.	S	201	ENSP00000304127:A201S;ENSP00000378424:A201S	ENSP00000304127:A201S	A	-	1	0	KCNG3	42573545	0.997000	0.39634	0.939000	0.37840	0.718000	0.41266	2.882000	0.48546	2.199000	0.70637	0.563000	0.77884	GCC		0.687	KCNG3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250464.2		NM_172344		11	26	1	0	3.27435e-08	0.00245	3.55009e-08	11	26		
ATP6V1B1	525	broad.mit.edu	37	2	71190385	71190385	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr2:71190385G>A	ENST00000234396.4	+	10	1076	c.1003G>A	c.(1003-1005)Gtg>Atg	p.V335M	ATP6V1B1_ENST00000412314.1_Missense_Mutation_p.V335M|RN7SL160P_ENST00000468558.2_RNA|AC007040.11_ENST00000606025.1_Intron	NM_001692.3	NP_001683.2	P15313	VATB1_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1	335					ATP hydrolysis coupled proton transport (GO:0015991)|ATP metabolic process (GO:0046034)|calcium ion homeostasis (GO:0055074)|cellular iron ion homeostasis (GO:0006879)|excretion (GO:0007588)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|ossification (GO:0001503)|pH reduction (GO:0045851)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|regulation of pH (GO:0006885)|sensory perception of sound (GO:0007605)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|proton-transporting V-type ATPase, V1 domain (GO:0033180)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	ATP binding (GO:0005524)|hydrogen ion transmembrane transporter activity (GO:0015078)|hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances (GO:0016820)			endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1)	19						GGCGGGCCGCGTGGAGGGTCG	0.627																																						uc002shj.2		NaN																	0				skin(1)	1						c.(1003-1005)GTG>ATG		ATPase, H+ transporting, lysosomal 56/58kDa, V1							69.0	63.0	65.0					2																	71190385		2203	4300	6503	SO:0001583	missense	525				ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport	apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	g.chr2:71190385G>A	AF107466	CCDS1912.1	2p13	2010-04-21	2008-07-31	2002-05-10	ENSG00000116039	ENSG00000116039	3.6.3.14	"""ATPases / V-type"""	853	protein-coding gene	gene with protein product	"""Renal tubular acidosis with deafness"""	192132	"""vacuolar proton pump 3"""	VPP3, ATP6B1		9916796, 2527371	Standard	XM_005264368		Approved	VATB, RTA1B, Vma2	uc002shj.3	P15313	OTTHUMG00000129711	ENST00000234396.4:c.1003G>A	2.37:g.71190385G>A	ENSP00000234396:p.Val335Met					ATP6V1B1_uc010fdv.2_Missense_Mutation_p.V335M|ATP6V1B1_uc010fdw.2_RNA|ATP6V1B1_uc010fdx.2_Missense_Mutation_p.V293M	p.V335M	NM_001692	NP_001683	P15313	VATB1_HUMAN			10	1090	+			335					Q53FY0|Q6P4H6	Missense_Mutation	SNP	ENST00000234396.4	37	c.1003G>A	CCDS1912.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.686824	0.88639	.	.	ENSG00000116039	ENST00000234396;ENST00000483246;ENST00000412314	T;T	0.80738	-1.41;-1.41	4.9	4.9	0.64082	ATPase, F1/V1/A1 complex, alpha/beta subunit, nucleotide-binding domain (1);	0.000000	0.64402	D	0.000009	D	0.88503	0.6454	M	0.71871	2.18	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.74674	0.971;0.984;0.954	D	0.89623	0.3850	10	0.87932	D	0	-0.853	15.6202	0.76799	0.0:0.0:1.0:0.0	.	310;335;335	B4DWH7;C9JL73;P15313	.;.;VATB1_HUMAN	M	335;310;335	ENSP00000234396:V335M;ENSP00000388353:V335M	ENSP00000234396:V335M	V	+	1	0	ATP6V1B1	71043893	1.000000	0.71417	0.973000	0.42090	0.931000	0.56810	9.574000	0.98184	2.568000	0.86640	0.650000	0.86243	GTG		0.627	ATP6V1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251920.2		NM_001692		6	87	0	0	0	0.00308	0	6	87		
REG1A	5967	broad.mit.edu	37	2	79349974	79349974	+	Missense_Mutation	SNP	G	G	A	rs200685695		TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr2:79349974G>A	ENST00000233735.1	+	5	432	c.329G>A	c.(328-330)cGc>cAc	p.R110H		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	110	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				positive regulation of cell proliferation (GO:0008284)	extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|growth factor activity (GO:0008083)	p.R110P(1)|p.R110H(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						TAGAACCGCCGCTGGCACTGG	0.552																																						uc002snz.2		NaN																	2	Substitution - Missense(2)		large_intestine(1)|lung(1)		0						c.(328-330)CGC>CAC		regenerating islet-derived 1 alpha precursor		G	HIS/ARG	0,4406		0,0,2203	107.0	107.0	107.0		329	2.9	0.9	2		107	2,8598	2.2+/-6.3	0,2,4298	yes	missense	REG1A	NM_002909.4	29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	110/167	79349974	2,13004	2203	4300	6503	SO:0001583	missense	5967				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding	g.chr2:79349974G>A		CCDS1964.1	2p12	2008-09-04	2008-06-04		ENSG00000115386	ENSG00000115386			9951	protein-coding gene	gene with protein product	"""pancreatic stone protein"", ""pancreatic thread protein"""	167770	"""regenerating islet-derived 1 alpha (pancreatic stone protein, pancreatic thread protein)"""	REG		2332435, 8333731	Standard	NM_002909		Approved	PSP, PTP, PSPS, PSPS1	uc002snz.3	P05451	OTTHUMG00000130016	ENST00000233735.1:c.329G>A	2.37:g.79349974G>A	ENSP00000233735:p.Arg110His					REG1A_uc010ysd.1_Missense_Mutation_p.R110H	p.R110H	NM_002909	NP_002900	P05451	REG1A_HUMAN			5	432	+			110			C-type lectin.		P11379|Q4ZG28	Missense_Mutation	SNP	ENST00000233735.1	37	c.329G>A	CCDS1964.1	.	.	.	.	.	.	.	.	.	.	g	11.72	1.723424	0.30503	0.0	2.33E-4	ENSG00000115386	ENST00000233735	T	0.18960	2.18	2.92	2.92	0.33932	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.391148	0.18799	N	0.130853	T	0.17066	0.0410	L	0.43554	1.36	0.26900	N	0.967122	B	0.02656	0.0	B	0.04013	0.001	T	0.10132	-1.0643	10	0.37606	T	0.19	.	9.4067	0.38466	0.0:0.0:1.0:0.0	.	110	P05451	REG1A_HUMAN	H	110	ENSP00000233735:R110H	ENSP00000233735:R110H	R	+	2	0	REG1A	79203482	0.014000	0.17966	0.948000	0.38648	0.801000	0.45260	0.744000	0.26245	1.637000	0.50538	0.557000	0.71058	CGC		0.552	REG1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252289.1		NM_002909		14	139	0	0	0	0.00499	0	14	139		
SLC9A4	389015	broad.mit.edu	37	2	103148843	103148843	+	Missense_Mutation	SNP	G	G	A	rs549137706	byFrequency	TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr2:103148843G>A	ENST00000295269.4	+	12	2550	c.2093G>A	c.(2092-2094)cGg>cAg	p.R698Q		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	698					epithelial cell development (GO:0002064)|gastric acid secretion (GO:0001696)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						GCATGCTCTCGGATAGGGTCA	0.448													G|||	3	0.000599042	0.0	0.0043	5008	,	,		22986	0.0		0.0	False		,,,				2504	0.0					uc002tbz.3		NaN																	0				skin(2)|central_nervous_system(1)	3						c.(2092-2094)CGG>CAG		solute carrier family 9 (sodium/hydrogen							97.0	96.0	96.0					2																	103148843		2203	4300	6503	SO:0001583	missense	389015				regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity	g.chr2:103148843G>A		CCDS33264.1	2q12.1	2013-05-22	2012-03-22		ENSG00000180251	ENSG00000180251		"""Solute carriers"""	11077	protein-coding gene	gene with protein product		600531	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 4"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 4"""			8199403	Standard	NM_001011552		Approved	NHE4	uc002tbz.4	Q6AI14	OTTHUMG00000153093	ENST00000295269.4:c.2093G>A	2.37:g.103148843G>A	ENSP00000295269:p.Arg698Gln						p.R698Q	NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN			12	2550	+			698			Cytoplasmic (Potential).		Q69YK0	Missense_Mutation	SNP	ENST00000295269.4	37	c.2093G>A	CCDS33264.1	.	.	.	.	.	.	.	.	.	.	G	12.16	1.853195	0.32699	.	.	ENSG00000180251	ENST00000295269	T	0.48522	0.81	4.9	-3.11	0.05299	.	1.117350	0.06971	N	0.818078	T	0.29524	0.0736	L	0.32530	0.975	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.16276	-1.0408	10	0.37606	T	0.19	.	1.3763	0.02221	0.383:0.2411:0.2502:0.1257	.	698	Q6AI14	SL9A4_HUMAN	Q	698	ENSP00000295269:R698Q	ENSP00000295269:R698Q	R	+	2	0	SLC9A4	102515275	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.603000	0.05674	-1.006000	0.03412	-0.140000	0.14226	CGG		0.448	SLC9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329498.1		NM_001011552.3		14	79	0	0	0	0.003163	0	14	79		
CCDC108	255101	broad.mit.edu	37	2	219892615	219892615	+	Silent	SNP	G	G	A			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr2:219892615G>A	ENST00000341552.5	-	13	2051	c.1968C>T	c.(1966-1968)gtC>gtT	p.V656V	CCDC108_ENST00000409865.3_Silent_p.V645V|CCDC108_ENST00000410037.1_Silent_p.V591V|CCDC108_ENST00000441968.1_Silent_p.V656V|CCDC108_ENST00000453220.1_Silent_p.V656V	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	656						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)	p.V656V(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGTCTACCTCGACAGGCTCTA	0.617																																						uc002vjl.1		NaN																	1	Substitution - coding silent(1)		large_intestine(1)	ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4						c.(1966-1968)GTC>GTT		coiled-coil domain containing 108 isoform 1							43.0	45.0	44.0					2																	219892615		2203	4300	6503	SO:0001819	synonymous_variant	255101					integral to membrane	structural molecule activity	g.chr2:219892615G>A	NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.1968C>T	2.37:g.219892615G>A						CCDC108_uc010fwa.1_Silent_p.V99V|CCDC108_uc010zkp.1_Silent_p.V645V|CCDC108_uc010zkq.1_Silent_p.V591V	p.V656V	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	13	2052	-		Renal(207;0.0915)	656					A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Silent	SNP	ENST00000341552.5	37	c.1968C>T	CCDS2430.2																																																																																				0.617	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4		NM_194302		10	38	0	0	0	0.006214	0	10	38		
LTN1	26046	broad.mit.edu	37	21	30316094	30316094	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr21:30316094T>C	ENST00000361371.5	-	23	4194	c.4115A>G	c.(4114-4116)aAa>aGa	p.K1372R	LTN1_ENST00000389194.2_Missense_Mutation_p.K1418R			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	1372					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						TAAGTTTGTTTTTTGGTCAGC	0.388																																						uc002ymr.2		NaN																	0					0						c.(4252-4254)AAA>AGA		zinc finger protein 294							159.0	150.0	153.0					21																	30316094		2203	4300	6503	SO:0001583	missense	26046						ligase activity|zinc ion binding	g.chr21:30316094T>C	AK001915	CCDS33527.1, CCDS33527.2	21q21.3	2013-01-09	2010-09-17	2010-09-17	ENSG00000198862	ENSG00000198862		"""RING-type (C3HC4) zinc fingers"""	13082	protein-coding gene	gene with protein product	"""listerin"""	613083	"""chromosome 21 open reading frame 98"", ""zinc finger protein 294"", ""ring finger protein 160"""	C21orf98, C21orf10, ZNF294, RNF160		20835226, 19196968	Standard	NM_015565		Approved	KIAA0714, FLJ11053, LISTERIN	uc002ymr.2	O94822	OTTHUMG00000078803	ENST00000361371.5:c.4115A>G	21.37:g.30316094T>C	ENSP00000354977:p.Lys1372Arg						p.K1418R	NM_015565	NP_056380	O94822	LTN1_HUMAN			23	4266	-			1372					A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9	Missense_Mutation	SNP	ENST00000361371.5	37	c.4253A>G		.	.	.	.	.	.	.	.	.	.	T	17.18	3.324494	0.60634	.	.	ENSG00000198862	ENST00000389194;ENST00000361371	T;T	0.20463	2.07;2.08	4.81	3.66	0.41972	.	0.102278	0.64402	D	0.000004	T	0.15522	0.0374	L	0.34521	1.04	0.80722	D	1	P	0.43477	0.808	B	0.41135	0.348	T	0.05273	-1.0895	10	0.18710	T	0.47	.	10.6163	0.45451	0.0:0.0759:0.0:0.9241	.	1372	O94822	LTN1_HUMAN	R	1418;1372	ENSP00000373846:K1418R;ENSP00000354977:K1372R	ENSP00000354977:K1372R	K	-	2	0	LTN1	29237965	1.000000	0.71417	0.993000	0.49108	0.994000	0.84299	4.650000	0.61440	0.981000	0.38548	0.533000	0.62120	AAA		0.388	LTN1-008	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000472108.1		NM_015565		21	127	0	0	0	0.005443	0	21	127		
CHAF1B	8208	broad.mit.edu	37	21	37781087	37781087	+	Silent	SNP	A	A	C			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr21:37781087A>C	ENST00000314103.5	+	9	937	c.786A>C	c.(784-786)gtA>gtC	p.V262V		NM_005441.2	NP_005432.1	Q13112	CAF1B_HUMAN	chromatin assembly factor 1, subunit B (p60)	262					cell cycle (GO:0007049)|chromatin assembly (GO:0031497)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|protein complex assembly (GO:0006461)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2)	20						GTGAAAATGTAATGAATACCA	0.398																																						uc002yvj.2		NaN																	0				ovary(1)|skin(1)	2						c.(784-786)GTA>GTC		chromatin assembly factor 1 subunit B							111.0	101.0	104.0					21																	37781087		2203	4300	6503	SO:0001819	synonymous_variant	8208				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|cytoplasm	chromatin binding|histone binding|unfolded protein binding	g.chr21:37781087A>C	U20980	CCDS13644.1	21q22.2	2013-01-10			ENSG00000159259	ENSG00000159259		"""WD repeat domain containing"""	1911	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 7"", ""Chromatin assembly factor I, p60 subunit"", ""human chromatin assembly factor-I p60 subunit"""	601245				7600578, 8792829	Standard	NM_005441		Approved	CAF1P60, CAF-1, CAF1, CAF1A, MPP7, MPHOSPH7	uc002yvj.3	Q13112	OTTHUMG00000086606	ENST00000314103.5:c.786A>C	21.37:g.37781087A>C							p.V262V	NM_005441	NP_005432	Q13112	CAF1B_HUMAN			9	924	+			262			WD 5.		Q99548	Silent	SNP	ENST00000314103.5	37	c.786A>C	CCDS13644.1																																																																																				0.398	CHAF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194616.2		NM_005441		6	64	0	0	0	0.004482	0	6	64		
SPATC1L	84221	broad.mit.edu	37	21	47588241	47588241	+	Silent	SNP	C	C	T			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr21:47588241C>T	ENST00000291672.5	-	3	1586	c.525G>A	c.(523-525)agG>agA	p.R175R	SPATC1L_ENST00000330205.6_Silent_p.R21R	NM_001142854.1	NP_001136326.1	Q9H0A9	SPC1L_HUMAN	spermatogenesis and centriole associated 1-like	175																	AGTAGCTCCTCCTGGTCCTGT	0.662																																						uc011afu.1		NaN																	0				skin(1)	1						c.(523-525)AGG>AGA		hypothetical protein LOC84221 isoform 1							37.0	31.0	33.0					21																	47588241		2201	4299	6500	SO:0001819	synonymous_variant	84221						protein binding	g.chr21:47588241C>T	BC009497	CCDS13732.1, CCDS46653.1	21q22.3	2013-01-21	2012-11-12	2012-11-12	ENSG00000160284	ENSG00000160284			1298	protein-coding gene	gene with protein product	"""speriolin-like protein"""	612412	"""chromosome 21 open reading frame 56"""	C21orf56			Standard	NM_032261		Approved		uc011afu.2	Q9H0A9	OTTHUMG00000090487	ENST00000291672.5:c.525G>A	21.37:g.47588241C>T						C21orf56_uc002zii.2_Silent_p.R21R	p.R175R	NM_001142854	NP_001136326	Q9H0A9	CU056_HUMAN		Colorectal(79;0.241)	3	1587	-	Breast(49;0.214)		175					B4E323|Q52LS9|Q6FIH5|Q6P0L3|Q9NSE5	Silent	SNP	ENST00000291672.5	37	c.525G>A	CCDS46653.1																																																																																				0.662	SPATC1L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376654.1		NM_032261		5	48	0	0	0	0.001168	0	5	48		
SEZ6L	23544	broad.mit.edu	37	22	26743810	26743810	+	Missense_Mutation	SNP	G	G	A	rs375640180		TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr22:26743810G>A	ENST00000248933.6	+	11	2433	c.2338G>A	c.(2338-2340)Gtg>Atg	p.V780M	SEZ6L_ENST00000402979.1_Missense_Mutation_p.V553M|SEZ6L_ENST00000343706.4_Missense_Mutation_p.V780M|SEZ6L_ENST00000411842.2_5'UTR|SEZ6L_ENST00000529632.2_Missense_Mutation_p.V780M|SEZ6L_ENST00000360929.3_Missense_Mutation_p.V780M|SEZ6L_ENST00000404234.3_Missense_Mutation_p.V780M|SEZ6L_ENST00000403121.1_Missense_Mutation_p.V553M			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	780	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)		p.V780M(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CTATGACATCGTGGGGAGTGA	0.552																																						uc003acb.2		NaN																	1	Substitution - Missense(1)		kidney(1)	ovary(4)|central_nervous_system(1)|pancreas(1)	6						c.(2338-2340)GTG>ATG		seizure related 6 homolog (mouse)-like		G	MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL	0,4406		0,0,2203	84.0	81.0	82.0		2338,2338,2338,2338,2338,2338	4.8	1.0	22		82	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense	SEZ6L	NM_001184773.1,NM_001184774.1,NM_001184775.1,NM_001184776.1,NM_001184777.1,NM_021115.4	21,21,21,21,21,21	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	780/1024,780/1014,780/1012,780/950,780/949,780/1025	26743810	1,13005	2203	4300	6503	SO:0001583	missense	23544					endoplasmic reticulum membrane|integral to membrane		g.chr22:26743810G>A	AL050253	CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1	22q12.1	2008-05-14	2001-11-28		ENSG00000100095	ENSG00000100095			10763	protein-coding gene	gene with protein product		607021	"""seizure related gene 6 (mouse)-like"""				Standard	NM_021115		Approved		uc003acb.3	Q9BYH1	OTTHUMG00000150870	ENST00000248933.6:c.2338G>A	22.37:g.26743810G>A	ENSP00000248933:p.Val780Met					SEZ6L_uc003acc.2_Missense_Mutation_p.V780M|SEZ6L_uc011akc.1_Missense_Mutation_p.V780M|SEZ6L_uc003acd.2_Missense_Mutation_p.V780M|SEZ6L_uc011akd.1_Missense_Mutation_p.V780M|SEZ6L_uc003ace.2_Missense_Mutation_p.V780M|SEZ6L_uc003acf.1_Missense_Mutation_p.V553M|SEZ6L_uc010gvc.1_Missense_Mutation_p.V553M|SEZ6L_uc011ake.1_RNA	p.V780M	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN			11	2494	+			780			Sushi 3.|Extracellular (Potential).		A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Missense_Mutation	SNP	ENST00000248933.6	37	c.2338G>A	CCDS13833.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.165631	0.78339	0.0	1.16E-4	ENSG00000100095	ENST00000404234;ENST00000529632;ENST00000360929;ENST00000248933;ENST00000343706;ENST00000403121;ENST00000402979	T;T;T;T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15	4.84	4.84	0.62591	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.50627	D	0.000111	T	0.80934	0.4719	M	0.84326	2.69	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;0.999;1.0;0.999;1.0;1.0	D	0.83940	0.0311	10	0.72032	D	0.01	.	17.1206	0.86701	0.0:0.0:1.0:0.0	.	780;780;553;780;780;780;780	B7ZLJ8;B7ZLJ6;B0QYH4;Q9BYH1-5;Q9BYH1-4;B0QYG3;Q9BYH1	.;.;.;.;.;.;SE6L1_HUMAN	M	780;780;780;780;780;553;553	ENSP00000384772:V780M;ENSP00000437037:V780M;ENSP00000354185:V780M;ENSP00000248933:V780M;ENSP00000342661:V780M;ENSP00000384838:V553M;ENSP00000384733:V553M	ENSP00000248933:V780M	V	+	1	0	SEZ6L	25073810	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	9.089000	0.94137	2.520000	0.84964	0.655000	0.94253	GTG		0.552	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320359.3				43	74	0	0	0	0.01441	0	43	74		
CELSR1	9620	broad.mit.edu	37	22	46931440	46931440	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr22:46931440G>C	ENST00000262738.3	-	1	1627	c.1628C>G	c.(1627-1629)cCg>cGg	p.P543R	CELSR1_ENST00000395964.1_Missense_Mutation_p.P543R|CELSR1_ENST00000497509.1_5'Flank	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	543	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		ATTGATGAGCGGGGGCCGGCC	0.582																																						uc003bhw.1		NaN																	0				lung(4)|breast(4)|pancreas(2)|skin(1)	11						c.(1627-1629)CCG>CGG		cadherin EGF LAG seven-pass G-type receptor 1							53.0	60.0	58.0					22																	46931440		2202	4300	6502	SO:0001583	missense	9620				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	g.chr22:46931440G>C	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.1628C>G	22.37:g.46931440G>C	ENSP00000262738:p.Pro543Arg						p.P543R	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	1	1628	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	543			Extracellular (Potential).|Cadherin 3.		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	37	c.1628C>G	CCDS14076.1	.	.	.	.	.	.	.	.	.	.	G	15.76	2.928080	0.52759	.	.	ENSG00000075275	ENST00000262738;ENST00000395964	T;T	0.56275	0.47;0.47	4.92	4.92	0.64577	Cadherin (4);Cadherin-like (1);	0.000000	0.64402	U	0.000002	T	0.71668	0.3367	M	0.72576	2.205	0.48632	D	0.99968	D	0.60575	0.988	D	0.68483	0.958	T	0.75932	-0.3143	10	0.87932	D	0	.	17.747	0.88423	0.0:0.0:1.0:0.0	.	543	Q9NYQ6	CELR1_HUMAN	R	543	ENSP00000262738:P543R;ENSP00000379293:P543R	ENSP00000262738:P543R	P	-	2	0	CELSR1	45310104	1.000000	0.71417	0.199000	0.23439	0.552000	0.35366	7.492000	0.81482	2.281000	0.76405	0.462000	0.41574	CCG		0.582	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1		NM_014246		13	82	0	0	0	0.00245	0	13	82		
HDAC10	83933	broad.mit.edu	37	22	50688081	50688081	+	Silent	SNP	G	G	C			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr22:50688081G>C	ENST00000216271.5	-	6	898	c.546C>G	c.(544-546)ctC>ctG	p.L182L	HDAC10_ENST00000448072.1_Silent_p.L182L|HDAC10_ENST00000349505.4_Silent_p.L182L|HDAC10_ENST00000498366.1_5'UTR|MAPK12_ENST00000497036.1_5'UTR	NM_001159286.1|NM_032019.5	NP_001152758.1|NP_114408.3	Q969S8	HDA10_HUMAN	histone deacetylase 10	182	Histone deacetylase.				chromatin modification (GO:0016568)|histone deacetylation (GO:0016575)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|oligodendrocyte development (GO:0014003)|protein deacetylation (GO:0006476)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)			endometrium(2)|kidney(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	8		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CATCCTCAAAGAGATACTGGA	0.622																																						uc003bkg.2		NaN																	0					0						c.(544-546)CTC>CTG		histone deacetylase 10 isoform 1							79.0	72.0	74.0					22																	50688081		2203	4300	6503	SO:0001819	synonymous_variant	83933				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|nucleus	histone deacetylase activity|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)	g.chr22:50688081G>C	AF393962	CCDS14088.1, CCDS54545.1	22q13.31	2008-06-10			ENSG00000100429	ENSG00000100429			18128	protein-coding gene	gene with protein product		608544				11677242, 11726666	Standard	NM_032019		Approved	DKFZP761B039	uc003bkg.3	Q969S8	OTTHUMG00000044647	ENST00000216271.5:c.546C>G	22.37:g.50688081G>C						HDAC10_uc003bke.2_5'UTR|HDAC10_uc003bkf.2_5'UTR|HDAC10_uc010hav.2_Silent_p.L182L|HDAC10_uc003bkh.2_Missense_Mutation_p.S11C|HDAC10_uc003bki.2_Silent_p.L182L|HDAC10_uc003bkj.2_RNA|HDAC10_uc003bkk.1_5'Flank	p.L182L	NM_032019	NP_114408	Q969S8	HDA10_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	6	919	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	182			Histone deacetylase.		Q08AP4|Q6STF9|Q96P77|Q96P78|Q9H028|Q9UGX1|Q9UGX2	Silent	SNP	ENST00000216271.5	37	c.546C>G	CCDS14088.1																																																																																				0.622	HDAC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104141.4		NM_032019		5	59	0	0	0	0.001984	0	5	59		
CCDC13	152206	broad.mit.edu	37	3	42777325	42777325	+	Silent	SNP	C	C	T			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr3:42777325C>T	ENST00000310232.6	-	10	1328	c.1245G>A	c.(1243-1245)ctG>ctA	p.L415L	CCDC13-AS1_ENST00000418161.1_RNA|CCDC13-AS1_ENST00000446950.1_RNA	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	415										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						GTTGCTGGTCCAGGTGGTGCT	0.632																																						uc003cly.3		NaN																	0				ovary(1)	1						c.(1243-1245)CTG>CTA		coiled-coil domain containing 13							92.0	72.0	79.0					3																	42777325		2203	4300	6503	SO:0001819	synonymous_variant	152206							g.chr3:42777325C>T	AK058196	CCDS2705.1	3p22.1	2005-01-25			ENSG00000244607	ENSG00000244607			26358	protein-coding gene	gene with protein product						12477932	Standard	NM_144719		Approved	FLJ25467	uc003cly.4	Q8IYE1	OTTHUMG00000133046	ENST00000310232.6:c.1245G>A	3.37:g.42777325C>T							p.L415L	NM_144719	NP_653320	Q8IYE1	CCD13_HUMAN			10	1329	-			415			Potential.			Silent	SNP	ENST00000310232.6	37	c.1245G>A	CCDS2705.1																																																																																				0.632	CCDC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256652.1		NM_144719		12	54	0	0	0	0.013537	0	12	54		
MYNN	55892	broad.mit.edu	37	3	169502469	169502469	+	Nonsense_Mutation	SNP	A	A	T			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr3:169502469A>T	ENST00000349841.5	+	7	2206	c.1543A>T	c.(1543-1545)Aag>Tag	p.K515*	MYNN_ENST00000356716.4_Nonsense_Mutation_p.K515*|MYNN_ENST00000544106.1_Intron	NM_018657.4	NP_061127.1	Q9NPC7	MYNN_HUMAN	myoneurin	515					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			TAAAAATTTAAAGAAGCACAA	0.264																																						uc003fft.2		NaN																	0				skin(1)	1						c.(1543-1545)AAG>TAG		myoneurin							41.0	47.0	45.0					3																	169502469		2195	4269	6464	SO:0001587	stop_gained	55892					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:169502469A>T	AF148848	CCDS3207.1, CCDS54671.1	3q26.31	2013-01-09			ENSG00000085274	ENSG00000085274		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	14955	protein-coding gene	gene with protein product		606042				10873615	Standard	NM_001185118		Approved	SBBIZ1, ZBTB31, ZNF902	uc010hwo.3	Q9NPC7		ENST00000349841.5:c.1543A>T	3.37:g.169502469A>T	ENSP00000326240:p.Lys515*					MYNN_uc011bpm.1_Nonsense_Mutation_p.K401*|MYNN_uc003ffu.2_Nonsense_Mutation_p.K515*|MYNN_uc003ffv.2_Nonsense_Mutation_p.K242*|MYNN_uc010hwo.2_Intron|MYNN_uc003ffw.1_RNA	p.K515*	NM_018657	NP_061127	Q9NPC7	MYNN_HUMAN	Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)		7	1972	+	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		515			C2H2-type 8.		B2R6C9|Q6QHA6|Q6QHA7|Q6R3G1|Q6R3G2|Q6R4A0|Q7Z716|Q7Z717|Q86Z11|Q86Z12|Q9NS01|Q9UIW8	Nonsense_Mutation	SNP	ENST00000349841.5	37	c.1543A>T	CCDS3207.1	.	.	.	.	.	.	.	.	.	.	A	42	9.756169	0.99256	.	.	ENSG00000085274	ENST00000356716;ENST00000349841	.	.	.	5.89	5.89	0.94794	.	0.069323	0.64402	D	0.000016	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.2912	0.82752	1.0:0.0:0.0:0.0	.	.	.	.	X	515	.	ENSP00000326240:K515X	K	+	1	0	MYNN	170985163	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.951000	0.70273	2.251000	0.74343	0.482000	0.46254	AAG		0.264	MYNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467801.1		NM_018657		3	20	0	0	0	0.009096	0	3	20		
PIK3CA	5290	broad.mit.edu	37	3	178919316	178919316	+	Silent	SNP	G	G	C			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr3:178919316G>C	ENST00000263967.3	+	4	958	c.801G>C	c.(799-801)ctG>ctC	p.L267L		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	267	PI3K-RBD. {ECO:0000255|PROSITE- ProRule:PRU00879}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATATCCTCTGAGTCAGTATA	0.274		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.2		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			colorectal|gastric|gliobastoma|breast		0				breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553						c.(799-801)CTG>CTC		phosphoinositide-3-kinase, catalytic, alpha							36.0	35.0	35.0					3																	178919316		1789	4071	5860	SO:0001819	synonymous_variant	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178919316G>C		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.801G>C	3.37:g.178919316G>C		HNSCC(19;0.045)|TSP Lung(28;0.18)					p.L267L	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		4	958	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		267			PI3K-RBD.		Q14CW1|Q99762	Silent	SNP	ENST00000263967.3	37	c.801G>C	CCDS43171.1																																																																																				0.274	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2				3	28	0	0	0	0.004672	0	3	28		
TIGD2	166815	broad.mit.edu	37	4	90034354	90034354	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr4:90034354G>C	ENST00000317005.2	+	1	387	c.229G>C	c.(229-231)Gag>Cag	p.E77Q	RP11-84C13.1_ENST00000603357.1_lincRNA|FAM13A_ENST00000502459.1_5'Flank	NM_145715.2	NP_663761.1	Q4W5G0	TIGD2_HUMAN	tigger transposable element derived 2	77	HTH CENPB-type. {ECO:0000255|PROSITE- ProRule:PRU00583}.					nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	14		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.86e-05)		ATCAACATACGAGGAGCTTGA	0.363																																						uc003hsk.2		NaN																	0					0						c.(229-231)GAG>CAG		tigger transposable element derived 2							110.0	107.0	108.0					4																	90034354		2203	4300	6503	SO:0001583	missense	166815				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding	g.chr4:90034354G>C	AK027653	CCDS3633.1	4q21.3	2013-02-21			ENSG00000180346	ENSG00000180346			18333	protein-coding gene	gene with protein product		612973					Standard	NM_145715		Approved		uc003hsk.3	Q4W5G0	OTTHUMG00000130946	ENST00000317005.2:c.229G>C	4.37:g.90034354G>C	ENSP00000317170:p.Glu77Gln					FAM13A_uc003hsh.1_5'Flank	p.E77Q	NM_145715	NP_663761	Q4W5G0	TIGD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.86e-05)	1	387	+		Hepatocellular(203;0.114)	77			HTH CENPB-type.			Missense_Mutation	SNP	ENST00000317005.2	37	c.229G>C	CCDS3633.1	.	.	.	.	.	.	.	.	.	.	g	11.46	1.646169	0.29246	.	.	ENSG00000180346	ENST00000317005	T	0.25579	1.79	3.9	3.02	0.34903	Homeodomain-related (1);Pogo transposase / Cenp-B / PDC2, DNA-binding HTH domain (3);Homeodomain-like (1);	0.000000	0.41823	U	0.000813	T	0.38612	0.1047	M	0.64997	1.995	0.23030	N	0.998403	D	0.89917	1.0	D	0.71870	0.975	T	0.09907	-1.0653	10	0.24483	T	0.36	.	6.4229	0.21754	0.2272:0.0:0.7728:0.0	.	77	Q4W5G0	TIGD2_HUMAN	Q	77	ENSP00000317170:E77Q	ENSP00000317170:E77Q	E	+	1	0	TIGD2	90253377	1.000000	0.71417	0.646000	0.29493	0.501000	0.33797	4.014000	0.57145	2.023000	0.59567	0.552000	0.68991	GAG		0.363	TIGD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253545.2		NM_145715		10	60	0	0	0	0.010729	0	10	60		
DNAH5	1767	broad.mit.edu	37	5	13753654	13753654	+	Missense_Mutation	SNP	A	A	C	rs551148279		TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr5:13753654A>C	ENST00000265104.4	-	63	10664	c.10560T>G	c.(10558-10560)gaT>gaG	p.D3520E		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3520					cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCAACAGTACATCCCCTAAAA	0.343									Kartagener syndrome																													uc003jfd.2		NaN																	0				ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(10558-10560)GAT>GAG		dynein, axonemal, heavy chain 5							53.0	57.0	56.0					5																	13753654		2201	4299	6500	SO:0001583	missense	1767	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13753654A>C	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.10560T>G	5.37:g.13753654A>C	ENSP00000265104:p.Asp3520Glu					DNAH5_uc003jfc.2_5'UTR	p.D3520E	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			63	10602	-	Lung NSC(4;0.00476)		3520					Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.10560T>G	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	A	15.83	2.949825	0.53186	.	.	ENSG00000039139	ENST00000265104	T	0.80480	-1.38	5.68	5.68	0.88126	Dynein heavy chain, coiled coil stalk (1);	0.000000	0.85682	D	0.000000	D	0.93543	0.7939	H	0.98218	4.175	0.58432	D	0.999999	D	0.71674	0.998	D	0.71414	0.973	D	0.95823	0.8851	10	0.87932	D	0	.	16.2164	0.82224	1.0:0.0:0.0:0.0	.	3520	Q8TE73	DYH5_HUMAN	E	3520	ENSP00000265104:D3520E	ENSP00000265104:D3520E	D	-	3	2	DNAH5	13806654	1.000000	0.71417	1.000000	0.80357	0.327000	0.28475	3.097000	0.50251	2.289000	0.77006	0.533000	0.62120	GAT		0.343	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2		NM_001369		3	33	0	0	0	0.004672	0	3	33		
CDH10	1008	broad.mit.edu	37	5	24492938	24492938	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr5:24492938G>C	ENST00000264463.4	-	10	2119	c.1612C>G	c.(1612-1614)Cag>Gag	p.Q538E	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	538	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TCATTATCCTGTACTGTGAAG	0.348										HNSCC(23;0.051)																												uc003jgr.1		NaN																	0				ovary(6)|pancreas(4)|breast(2)	12						c.(1612-1614)CAG>GAG		cadherin 10, type 2 preproprotein							155.0	166.0	162.0					5																	24492938		2203	4297	6500	SO:0001583	missense	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24492938G>C	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.1612C>G	5.37:g.24492938G>C	ENSP00000264463:p.Gln538Glu	HNSCC(23;0.051)				CDH10_uc011cnu.1_RNA	p.Q538E	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	10	1944	-			538			Cadherin 5.|Extracellular (Potential).		Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	37	c.1612C>G	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	G	13.29	2.192149	0.38707	.	.	ENSG00000040731	ENST00000264463	T	0.58797	0.31	5.04	5.04	0.67666	Cadherin (4);Cadherin-like (1);	0.304873	0.32578	N	0.005909	T	0.50292	0.1607	N	0.20483	0.58	0.27561	N	0.950179	B	0.19200	0.034	B	0.34038	0.174	T	0.51671	-0.8676	10	0.48119	T	0.1	.	17.7384	0.88401	0.0:0.0:1.0:0.0	.	538	Q9Y6N8	CAD10_HUMAN	E	538	ENSP00000264463:Q538E	ENSP00000264463:Q538E	Q	-	1	0	CDH10	24528695	0.998000	0.40836	0.996000	0.52242	0.948000	0.59901	4.248000	0.58760	2.506000	0.84524	0.585000	0.79938	CAG		0.348	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2		NM_006727		5	114	0	0	0	0.001984	0	5	114		
CDH6	1004	broad.mit.edu	37	5	31323023	31323023	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr5:31323023G>C	ENST00000265071.2	+	12	2246	c.1981G>C	c.(1981-1983)Gac>Cac	p.D661H		NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	661					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D661N(1)		NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CAGTTACAACGACGAAGGTGG	0.488																																						uc003jhe.1		NaN																	1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)|large_intestine(1)	7						c.(1981-1983)GAC>CAC		cadherin 6, type 2 preproprotein							87.0	84.0	85.0					5																	31323023		2203	4300	6503	SO:0001583	missense	1004				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	g.chr5:31323023G>C	D31784	CCDS3894.1	5p13.3	2010-01-26			ENSG00000113361	ENSG00000113361		"""Cadherins / Major cadherins"""	1765	protein-coding gene	gene with protein product	"""K-Cadherin"""	603007				7743525, 10191097	Standard	NM_004932		Approved		uc003jhe.2	P55285	OTTHUMG00000090673	ENST00000265071.2:c.1981G>C	5.37:g.31323023G>C	ENSP00000265071:p.Asp661His						p.D661H	NM_004932	NP_004923	P55285	CADH6_HUMAN			12	2307	+			661			Cytoplasmic (Potential).		A8K5H5|Q9BWS0	Missense_Mutation	SNP	ENST00000265071.2	37	c.1981G>C	CCDS3894.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.790218	0.90367	.	.	ENSG00000113361	ENST00000265071	D	0.83335	-1.71	5.52	5.52	0.82312	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	D	0.93831	0.8027	M	0.93420	3.415	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94788	0.7959	10	0.87932	D	0	.	19.8024	0.96513	0.0:0.0:1.0:0.0	.	661	P55285	CADH6_HUMAN	H	661	ENSP00000265071:D661H	ENSP00000265071:D661H	D	+	1	0	CDH6	31358780	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.721000	0.98766	2.752000	0.94435	0.655000	0.94253	GAC		0.488	CDH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207355.2		NM_004932		11	48	0	0	0	0.010729	0	11	48		
NR2F1	7025	broad.mit.edu	37	5	92923892	92923892	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr5:92923892A>G	ENST00000327111.3	+	2	2420	c.733A>G	c.(733-735)Atc>Gtc	p.I245V	NR2F1-AS1_ENST00000513055.1_RNA	NM_005654.4	NP_005645.1	P10589	COT1_HUMAN	nuclear receptor subfamily 2, group F, member 1	245					cerebral cortex regionalization (GO:0021796)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of neuron projection development (GO:0010977)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|retinoic acid-responsive element binding (GO:0044323)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	21		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)		GGATCTGCAGATCACCGACCA	0.647																																						uc003kkj.2		NaN																	0				urinary_tract(1)|ovary(1)|lung(1)	3						c.(733-735)ATC>GTC		nuclear receptor subfamily 2, group F, member 1							82.0	78.0	80.0					5																	92923892		2203	4300	6503	SO:0001583	missense	7025				negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding	g.chr5:92923892A>G	BC004154	CCDS4068.1	5q14	2013-01-16			ENSG00000175745	ENSG00000175745		"""Nuclear hormone receptors"""	7975	protein-coding gene	gene with protein product		132890		ERBAL3, TFCOUP1		8530078	Standard	NM_005654		Approved	EAR-3, COUP-TFI, TCFCOUP1, SVP44	uc003kkj.3	P10589	OTTHUMG00000119079	ENST00000327111.3:c.733A>G	5.37:g.92923892A>G	ENSP00000325819:p.Ile245Val						p.I245V	NM_005654	NP_005645	P10589	COT1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)	2	2420	+		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)	245						Missense_Mutation	SNP	ENST00000327111.3	37	c.733A>G	CCDS4068.1	.	.	.	.	.	.	.	.	.	.	A	9.530	1.110541	0.20714	.	.	ENSG00000175745	ENST00000327111	T	0.50813	0.73	4.54	4.54	0.55810	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.060572	0.64402	N	0.000004	T	0.25232	0.0613	N	0.03324	-0.35	0.58432	D	0.999999	B	0.09022	0.002	B	0.14023	0.01	T	0.06935	-1.0799	10	0.25106	T	0.35	.	13.6902	0.62542	1.0:0.0:0.0:0.0	.	245	P10589	COT1_HUMAN	V	245	ENSP00000325819:I245V	ENSP00000325819:I245V	I	+	1	0	NR2F1	92949648	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.199000	0.77831	1.885000	0.54596	0.379000	0.24179	ATC		0.647	NR2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239293.2		NM_005654		19	85	0	0	0	0.004656	0	19	85		
IL17B	27190	broad.mit.edu	37	5	148753933	148753933	+	Nonstop_Mutation	SNP	C	C	G			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr5:148753933C>G	ENST00000261796.3	-	3	592	c.542G>C	c.(541-543)tGa>tCa	p.*181S	IL17B_ENST00000505432.1_5'UTR|RP11-394O4.3_ENST00000521756.1_RNA	NM_014443.2	NP_055258.1	Q9UHF5	IL17B_HUMAN	interleukin 17B	0					cell-cell signaling (GO:0007267)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)|urinary_tract(1)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAGGTGATTCAGAAGATGCA	0.617																																						uc003lqo.2		NaN																	0				central_nervous_system(1)	1						c.(541-543)TGA>TCA		interleukin 17B precursor							21.0	23.0	23.0					5																	148753933		2197	4294	6491	SO:0001578	stop_lost	27190				cell-cell signaling|immune response|inflammatory response	extracellular space	cytokine activity|signal transducer activity	g.chr5:148753933C>G	AF184969	CCDS4297.1	5q33.1	2011-07-14			ENSG00000127743	ENSG00000127743		"""Interleukins and interleukin receptors"""	5982	protein-coding gene	gene with protein product	"""neuronal interleukin-17-related factor"""	604627				10639155	Standard	NM_014443		Approved	IL-17B, ZCYTO7, IL-20, MGC138900, MGC138901, NIRF	uc003lqo.3	Q9UHF5	OTTHUMG00000130051	ENST00000261796.3:c.542G>C	5.37:g.148753933C>G							p.*181S	NM_014443	NP_055258	Q9UHF5	IL17B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	592	-			181					Q14CE5	Nonstop_Mutation	SNP	ENST00000261796.3	37	c.542G>C	CCDS4297.1	.	.	.	.	.	.	.	.	.	.	C	11.84	1.757808	0.31137	.	.	ENSG00000127743	ENST00000261796	.	.	.	5.2	3.07	0.35406	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.0119	0.41992	0.0:0.7582:0.0:0.2418	.	.	.	.	S	181	.	.	X	-	2	2	IL17B	148734126	1.000000	0.71417	0.981000	0.43875	0.557000	0.35523	1.165000	0.31822	1.192000	0.43071	0.561000	0.74099	TGA		0.617	IL17B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252330.1		NM_014443		4	61	0	0	0	0.000602	0	4	61		
CSNK1A1	1452	broad.mit.edu	37	5	148904715	148904715	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr5:148904715C>T	ENST00000377843.2	-	3	729	c.250G>A	c.(250-252)Gac>Aac	p.D84N	CSNK1A1_ENST00000515435.1_5'UTR|CSNK1A1_ENST00000515768.1_Missense_Mutation_p.D84N|CSNK1A1_ENST00000504676.1_5'UTR|CSNK1A1_ENST00000261798.5_Missense_Mutation_p.D84N	NM_001025105.1|NM_001892.4	NP_001020276.1|NP_001883.4	P48729	KC1A_HUMAN	casein kinase 1, alpha 1	84	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell surface receptor signaling pathway (GO:0007166)|mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(4)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		ACATTGTAGTCTTTTTCCTGA	0.358																																					Colon(5;64 69 1309 10383)	uc003lqx.1		NaN																	0				breast(1)	1						c.(250-252)GAC>AAC		casein kinase 1, alpha 1 isoform 2							65.0	61.0	63.0					5																	148904715		2165	4289	6454	SO:0001583	missense	1452				cell division|mitosis|Wnt receptor signaling pathway	centrosome|condensed chromosome kinetochore|cytosol|nuclear speck	ATP binding|protein binding|protein binding|protein serine/threonine kinase activity	g.chr5:148904715C>T	AF119911	CCDS47303.1, CCDS47304.1, CCDS64291.1	5q32	2013-01-17			ENSG00000113712	ENSG00000113712			2451	protein-coding gene	gene with protein product	"""clock regulator kinase"""	600505				8050587	Standard	NM_001025105		Approved	CK1, CK1a, CK1alpha, CKIa, CKIalpha	uc003lqw.2	P48729	OTTHUMG00000163463	ENST00000377843.2:c.250G>A	5.37:g.148904715C>T	ENSP00000367074:p.Asp84Asn					CSNK1A1_uc011dcc.1_5'UTR|CSNK1A1_uc003lqv.1_5'UTR|CSNK1A1_uc003lqw.1_Missense_Mutation_p.D84N|CSNK1A1_uc003lqy.1_Missense_Mutation_p.D84N|CSNK1A1_uc010jha.1_Missense_Mutation_p.D84N	p.D84N	NM_001892	NP_001883	P48729	KC1A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)	3	730	-			84			Protein kinase.		D3DQG0|D3DQG1|Q4JJA0|Q5U046|Q5U047|Q6FGA2|Q71TU5|Q96HD2|Q9UDK3	Missense_Mutation	SNP	ENST00000377843.2	37	c.250G>A	CCDS47303.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.200434	0.79015	.	.	ENSG00000113712	ENST00000261798;ENST00000377843;ENST00000322237;ENST00000515768	T;T;T	0.20069	2.1;2.1;2.1	5.87	5.87	0.94306	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	U	0.000000	T	0.24624	0.0597	L	0.42686	1.345	0.80722	D	1	B;B;B	0.16166	0.0;0.001;0.016	B;B;B	0.17098	0.001;0.003;0.017	T	0.02053	-1.1222	10	0.59425	D	0.04	.	20.206	0.98277	0.0:1.0:0.0:0.0	.	84;84;84	Q71TU5;P48729;P48729-2	.;KC1A_HUMAN;.	N	84	ENSP00000261798:D84N;ENSP00000367074:D84N;ENSP00000421689:D84N	ENSP00000261798:D84N	D	-	1	0	CSNK1A1	148884908	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.818000	0.86416	2.785000	0.95823	0.655000	0.94253	GAC		0.358	CSNK1A1-201	KNOWN	basic|CCDS	protein_coding	protein_coding			NM_001892		5	14	0	0	0	0.001168	0	5	14		
SERPINB9	5272	broad.mit.edu	37	6	2896393	2896393	+	Missense_Mutation	SNP	T	T	C	rs146337993	byFrequency	TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr6:2896393T>C	ENST00000380698.4	-	3	289	c.200A>G	c.(199-201)cAt>cGt	p.H67R		NM_004155.5	NP_004146.1	P50453	SPB9_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 9	67					cellular response to estrogen stimulus (GO:0071391)|immune response (GO:0006955)|mast cell mediated immunity (GO:0002448)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	15	Ovarian(93;0.0412)	all_hematologic(90;0.108)				GAAAGCCCGATGAATGTCTTC	0.463																																						uc003mug.2		NaN																	0					0						c.(199-201)CAT>CGT		serpin peptidase inhibitor, clade B, member 9							123.0	123.0	123.0					6																	2896393		2203	4300	6503	SO:0001583	missense	5272				anti-apoptosis|cellular response to estrogen stimulus|immune response|mast cell mediated immunity|regulation of proteolysis	cytosol|extracellular space|nucleus	caspase inhibitor activity|protease binding|serine-type endopeptidase inhibitor activity	g.chr6:2896393T>C	L40378	CCDS4478.1	6p25.2	2014-02-18	2005-08-18		ENSG00000170542	ENSG00000170542		"""Serine (or cysteine) peptidase inhibitors"""	8955	protein-coding gene	gene with protein product		601799	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 9"""	PI9		8530382, 9858835, 24172014	Standard	NM_004155		Approved	CAP3	uc003mug.4	P50453	OTTHUMG00000014131	ENST00000380698.4:c.200A>G	6.37:g.2896393T>C	ENSP00000370074:p.His67Arg					uc003mue.2_Intron	p.H67R	NM_004155	NP_004146	P50453	SPB9_HUMAN			3	321	-	Ovarian(93;0.0412)	all_hematologic(90;0.108)	67					B2RBW3|Q5TD03	Missense_Mutation	SNP	ENST00000380698.4	37	c.200A>G	CCDS4478.1	.	.	.	.	.	.	.	.	.	.	T	18.33	3.600616	0.66332	.	.	ENSG00000170542	ENST00000380698	D	0.84223	-1.82	4.21	4.21	0.49690	Serpin domain (3);	0.000000	0.85682	D	0.000000	D	0.85309	0.5667	M	0.79614	2.46	0.80722	D	1	P	0.46784	0.884	P	0.50192	0.634	D	0.87565	0.2474	10	0.66056	D	0.02	.	12.58	0.56386	0.0:0.0:0.0:1.0	.	67	P50453	SPB9_HUMAN	R	67	ENSP00000370074:H67R	ENSP00000370074:H67R	H	-	2	0	SERPINB9	2841392	1.000000	0.71417	0.040000	0.18447	0.027000	0.11550	7.001000	0.76297	1.899000	0.54978	0.533000	0.62120	CAT		0.463	SERPINB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039656.1				18	75	0	0	0	0.00278	0	18	75		
HIST1H1T	3010	broad.mit.edu	37	6	26107884	26107884	+	Silent	SNP	A	A	G			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr6:26107884A>G	ENST00000338379.4	-	1	480	c.438T>C	c.(436-438)acT>acC	p.T146T		NM_005323.3	NP_005314.2	P22492	H1T_HUMAN	histone cluster 1, H1t	146					binding of sperm to zona pellucida (GO:0007339)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|nucleosome assembly (GO:0006334)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	condensed nuclear chromosome (GO:0000794)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|endometrium(1)|lung(3)|ovary(2)|prostate(1)	9						TGGTTTTAGCAGTCTTTGGTG	0.463																																						uc003ngj.2		NaN																	0				ovary(2)	2						c.(436-438)ACT>ACC		histone cluster 1, H1t							121.0	112.0	115.0					6																	26107884		2203	4300	6503	SO:0001819	synonymous_variant	3010				cell differentiation|multicellular organismal development|nucleosome assembly|spermatogenesis	nucleosome	DNA binding	g.chr6:26107884A>G	M60094	CCDS34349.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000187475	ENSG00000187475		"""Histones / Replication-dependent"""	4720	protein-coding gene	gene with protein product		142712	"""H1 histone family, member T (testis-specific)"", ""histone 1, H1t"""	H1FT		8175896, 12408966	Standard	NM_005323		Approved	H1t	uc003ngj.3	P22492	OTTHUMG00000014430	ENST00000338379.4:c.438T>C	6.37:g.26107884A>G							p.T146T	NM_005323	NP_005314	P22492	H1T_HUMAN			1	481	-			146					Q6ISI1|Q8IUE8	Silent	SNP	ENST00000338379.4	37	c.438T>C	CCDS34349.1																																																																																				0.463	HIST1H1T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040093.2		NM_005323		6	52	0	0	0	0.001168	0	6	52		
KIFC1	3833	broad.mit.edu	37	6	33371659	33371659	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr6:33371659A>G	ENST00000428849.2	+	6	959	c.509A>G	c.(508-510)cAg>cGg	p.Q170R		NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN	kinesin family member C1	170					ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic sister chromatid segregation (GO:0000070)|spindle assembly (GO:0051225)	endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|minus-end-directed microtubule motor activity (GO:0008569)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						CTTCAGGACCAGCTCAGAGAT	0.557																																						uc003oef.3		NaN																	0					0						c.(508-510)CAG>CGG		kinesin family member C1							107.0	106.0	106.0					6																	33371659		2203	4300	6503	SO:0001583	missense	3833				blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation	early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle	ATP binding|microtubule motor activity	g.chr6:33371659A>G	D14678	CCDS34430.1	6p21.32	2014-05-15	2003-01-09	2003-01-10	ENSG00000237649	ENSG00000237649		"""Kinesins"""	6389	protein-coding gene	gene with protein product		603763	"""kinesin-like 2"""	KNSL2		8276466	Standard	NM_002263		Approved	HSET	uc003oef.4	Q9BW19	OTTHUMG00000031209	ENST00000428849.2:c.509A>G	6.37:g.33371659A>G	ENSP00000393963:p.Gln170Arg					KIFC1_uc011drf.1_Missense_Mutation_p.Q162R	p.Q170R	NM_002263	NP_002254	Q9BW19	KIFC1_HUMAN			6	959	+			170			Potential.		O60887|Q14834|Q4KMP0|Q5SU09|Q6GMS7|Q6P4A5|Q9UQP7	Missense_Mutation	SNP	ENST00000428849.2	37	c.509A>G	CCDS34430.1	.	.	.	.	.	.	.	.	.	.	A	17.14	3.314034	0.60414	.	.	ENSG00000237649	ENST00000428849	T	0.75154	-0.91	5.34	5.34	0.76211	.	0.392194	0.28332	N	0.015733	T	0.59390	0.2190	M	0.61703	1.905	0.28629	N	0.907773	P;P	0.45902	0.868;0.788	B;B	0.42851	0.4;0.4	T	0.57670	-0.7771	10	0.22706	T	0.39	-13.4181	13.3089	0.60368	1.0:0.0:0.0:0.0	.	162;170	B4E063;Q9BW19	.;KIFC1_HUMAN	R	170	ENSP00000393963:Q170R	ENSP00000393963:Q170R	Q	+	2	0	KIFC1	33479637	1.000000	0.71417	0.997000	0.53966	0.918000	0.54935	2.903000	0.48711	2.246000	0.74042	0.460000	0.39030	CAG		0.557	KIFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076417.1		NM_002263		6	96	0	0	0	0.00308	0	6	96		
HECW1	23072	broad.mit.edu	37	7	43532701	43532701	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr7:43532701T>C	ENST00000395891.2	+	19	3964	c.3359T>C	c.(3358-3360)gTg>gCg	p.V1120A	HECW1_ENST00000453890.1_Missense_Mutation_p.V1086A	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	1120					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GACAAGATTGTGGCATTTCTT	0.463																																						uc003tid.1		NaN																	0				ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23						c.(3358-3360)GTG>GCG		NEDD4-like ubiquitin-protein ligase 1							77.0	73.0	74.0					7																	43532701		1934	4146	6080	SO:0001583	missense	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43532701T>C	AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.3359T>C	7.37:g.43532701T>C	ENSP00000379228:p.Val1120Ala					HECW1_uc011kbi.1_Missense_Mutation_p.V1086A	p.V1120A	NM_015052	NP_055867	Q76N89	HECW1_HUMAN			19	3964	+			1120					A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Missense_Mutation	SNP	ENST00000395891.2	37	c.3359T>C	CCDS5469.2	.	.	.	.	.	.	.	.	.	.	T	24.6	4.551426	0.86127	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	D;D	0.84660	-1.88;-1.88	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	D	0.90559	0.7041	M	0.64170	1.965	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.74674	0.984;0.952	D	0.90436	0.4428	10	0.45353	T	0.12	.	14.9652	0.71184	0.0:0.0:0.0:1.0	.	1086;1120	B4DH42;Q76N89	.;HECW1_HUMAN	A	1120;1086;1120	ENSP00000379228:V1120A;ENSP00000407774:V1086A	ENSP00000265522:V1120A	V	+	2	0	HECW1	43499226	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.677000	0.84024	2.021000	0.59480	0.533000	0.62120	GTG		0.463	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2		NM_015052		12	49	0	0	0	0.004007	0	12	49		
TAS2R40	259286	broad.mit.edu	37	7	142919393	142919393	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr7:142919393G>T	ENST00000408947.3	+	1	264	c.222G>T	c.(220-222)atG>atT	p.M74I	AC073342.1_ENST00000595842.1_5'Flank	NM_176882.1	NP_795363.1	P59535	T2R40_HUMAN	taste receptor, type 2, member 40	74					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8	Melanoma(164;0.059)					AGATTTGGATGATGCTGGAGA	0.453																																						uc011ksx.1		NaN																	0				ovary(1)	1						c.(220-222)ATG>ATT		taste receptor, type 2, member 40							118.0	117.0	118.0					7																	142919393		1934	4150	6084	SO:0001583	missense	259286				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr7:142919393G>T	AF494229	CCDS43662.1	7q34	2012-08-22	2003-12-16		ENSG00000221937	ENSG00000221937		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18885	protein-coding gene	gene with protein product		613964	"""G protein-coupled receptor 60"""	GPR60		12379855	Standard	NM_176882		Approved		uc011ksx.2	P59535	OTTHUMG00000152638	ENST00000408947.3:c.222G>T	7.37:g.142919393G>T	ENSP00000386210:p.Met74Ile						p.M74I	NM_176882	NP_795363	P59535	T2R40_HUMAN			1	222	+	Melanoma(164;0.059)		74			Helical; Name=2; (Potential).		A4D2I2|Q645W6	Missense_Mutation	SNP	ENST00000408947.3	37	c.222G>T	CCDS43662.1	.	.	.	.	.	.	.	.	.	.	G	10.23	1.291957	0.23564	.	.	ENSG00000221937	ENST00000408947	T	0.00644	6.01	4.95	0.882	0.19172	.	0.610036	0.15153	N	0.277567	T	0.00440	0.0014	N	0.20574	0.59	0.28930	N	0.891617	B	0.18461	0.028	B	0.19391	0.025	T	0.38757	-0.9646	10	0.10902	T	0.67	.	2.4462	0.04507	0.2258:0.1282:0.5147:0.1313	.	74	P59535	T2R40_HUMAN	I	74	ENSP00000386210:M74I	ENSP00000386210:M74I	M	+	3	0	TAS2R40	142629515	0.000000	0.05858	0.992000	0.48379	0.998000	0.95712	-0.228000	0.09114	0.236000	0.21180	0.655000	0.94253	ATG		0.453	TAS2R40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327097.1				7	87	1	0	2.7689e-08	0.001984	3.06663e-08	7	87		
C8orf86	389649	broad.mit.edu	37	8	38373959	38373959	+	Silent	SNP	C	C	T			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr8:38373959C>T	ENST00000358138.1	-	2	411	c.387G>A	c.(385-387)gtG>gtA	p.V129V	C8orf86_ENST00000437935.2_Intron	NM_207412.1	NP_997295.1	Q6ZUL3	CH086_HUMAN	chromosome 8 open reading frame 86	129										breast(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	5						AATGAGAGATCACTGTGGGCT	0.418																																						uc003xlx.1		NaN																	0					0						c.(385-387)GTG>GTA		hypothetical protein LOC389649							157.0	153.0	155.0					8																	38373959		2203	4300	6503	SO:0001819	synonymous_variant	389649							g.chr8:38373959C>T	BC137511	CCDS6108.1	8p12-p11.23	2009-03-03			ENSG00000196166	ENSG00000196166			33774	protein-coding gene	gene with protein product							Standard	NM_207412		Approved	FLJ43582	uc003xlx.1	Q6ZUL3	OTTHUMG00000163992	ENST00000358138.1:c.387G>A	8.37:g.38373959C>T							p.V129V	NM_207412	NP_997295	Q6ZUL3	CH086_HUMAN			2	412	-			129					A4QPB7	Silent	SNP	ENST00000358138.1	37	c.387G>A	CCDS6108.1																																																																																				0.418	C8orf86-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376668.1		NM_207412		35	113	0	0	0	0.01441	0	35	113		
C8orf86	389649	broad.mit.edu	37	8	38374031	38374031	+	Splice_Site	SNP	C	C	G			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr8:38374031C>G	ENST00000358138.1	-	2	340		c.e2-1		C8orf86_ENST00000437935.2_Intron	NM_207412.1	NP_997295.1	Q6ZUL3	CH086_HUMAN	chromosome 8 open reading frame 86											breast(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	5						TCTCATAAGCCTAGAGACAGG	0.423																																						uc003xlx.1		NaN																	0					0						c.e2-1		hypothetical protein LOC389649							73.0	74.0	74.0					8																	38374031		2203	4300	6503	SO:0001630	splice_region_variant	389649							g.chr8:38374031C>G	BC137511	CCDS6108.1	8p12-p11.23	2009-03-03			ENSG00000196166	ENSG00000196166			33774	protein-coding gene	gene with protein product							Standard	NM_207412		Approved	FLJ43582	uc003xlx.1	Q6ZUL3	OTTHUMG00000163992	ENST00000358138.1:c.316-1G>C	8.37:g.38374031C>G							p.A106_splice	NM_207412	NP_997295	Q6ZUL3	CH086_HUMAN			2	341	-								A4QPB7	Splice_Site	SNP	ENST00000358138.1	37	c.316_splice	CCDS6108.1	.	.	.	.	.	.	.	.	.	.	C	3.829	-0.036158	0.07497	.	.	ENSG00000196166	ENST00000358138	.	.	.	2.73	0.806	0.18708	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.511	0.33217	0.0:0.5248:0.4752:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C8orf86	38493188	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.040000	0.13905	0.187000	0.20147	0.563000	0.77884	.		0.423	C8orf86-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376668.1		NM_207412	Intron	10	68	0	0	0	0.013537	0	10	68		
RB1CC1	9821	broad.mit.edu	37	8	53573712	53573712	+	Silent	SNP	G	G	A			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr8:53573712G>A	ENST00000025008.5	-	10	2011	c.1488C>T	c.(1486-1488)taC>taT	p.Y496Y	RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000539297.1_Silent_p.Y496Y|RB1CC1_ENST00000435644.2_Silent_p.Y496Y	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	496					autophagic vacuole assembly (GO:0000045)|cell cycle (GO:0007049)|heart development (GO:0007507)|JNK cascade (GO:0007254)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell size (GO:0045793)|positive regulation of protein phosphorylation (GO:0001934)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)				NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				CAGCTAAGCAGTACATCTGAG	0.363																																					GBM(180;1701 2102 13475 42023 52570)	uc003xre.3		NaN																	0				ovary(8)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)	11						c.(1486-1488)TAC>TAT		Rb1-inducible coiled coil protein 1 isoform 1							108.0	103.0	105.0					8																	53573712		2203	4300	6503	SO:0001819	synonymous_variant	9821				autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding	g.chr8:53573712G>A	AB059622	CCDS34892.1, CCDS47856.1	8q11	2014-06-13				ENSG00000023287			15574	protein-coding gene	gene with protein product	"""200 kDa FAK family kinase-interacting protein"", ""phosphatase 1, regulatory subunit 131"""	606837				11850849, 7724523, 18443221	Standard	NM_014781		Approved	KIAA0203, Cc1, DRAGOU14, FIP200, ATG17, PPP1R131	uc003xre.4	Q8TDY2		ENST00000025008.5:c.1488C>T	8.37:g.53573712G>A						RB1CC1_uc003xrf.3_Silent_p.Y496Y	p.Y496Y	NM_014781	NP_055596	Q8TDY2	RBCC1_HUMAN			10	2046	-		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)	496					Q86YR4|Q8WVU9|Q92601	Silent	SNP	ENST00000025008.5	37	c.1488C>T	CCDS34892.1																																																																																				0.363	RB1CC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378011.1		NM_014781		10	47	0	0	0	0.003163	0	10	47		
IL33	90865	broad.mit.edu	37	9	6251156	6251156	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr9:6251156A>T	ENST00000381434.3	+	3	247	c.234A>T	c.(232-234)agA>agT	p.R78S	IL33_ENST00000417746.2_Intron|IL33_ENST00000456383.2_Missense_Mutation_p.R78S	NM_033439.3	NP_254274.1	O95760	IL33_HUMAN	interleukin 33	78	Interaction with RELA. {ECO:0000250}.				extrinsic apoptotic signaling pathway (GO:0097191)|negative regulation of immunoglobulin secretion (GO:0051025)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of T-helper 1 type immune response (GO:0002826)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of immunoglobulin secretion (GO:0051024)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage activation (GO:0043032)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type 2 immune response (GO:0002830)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|nucleus (GO:0005634)	cytokine activity (GO:0005125)			breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	16		Acute lymphoblastic leukemia(23;0.158)|Prostate(43;0.167)		GBM - Glioblastoma multiforme(50;0.0161)|Lung(218;0.105)		AGCACAAAAGACATCTGGTAC	0.478																																						uc003zjt.2		NaN																	0					0						c.(232-234)AGA>AGT		interleukin 33 precursor							169.0	131.0	144.0					9																	6251156		2203	4300	6503	SO:0001583	missense	90865				positive regulation of chemokine secretion|positive regulation of inflammatory response|positive regulation of macrophage activation|positive regulation of transcription from RNA polymerase II promoter	extracellular space	cytokine activity	g.chr9:6251156A>T	AB024518	CCDS6468.1, CCDS56563.1, CCDS56564.1	9p24.1	2014-01-28	2006-11-20	2006-11-20	ENSG00000137033	ENSG00000137033		"""Interleukins and interleukin receptors"""	16028	protein-coding gene	gene with protein product	"""DVS27-related protein"", ""nuclear factor for high endothelial venules"", ""interleukin-1 family, member 11"""	608678	"""chromosome 9 open reading frame 26 (NF-HEV)"""	C9orf26		10566975, 12819012	Standard	NM_033439		Approved	DVS27, DKFZp586H0523, NF-HEV, IL1F11	uc003zjt.3	O95760	OTTHUMG00000019516	ENST00000381434.3:c.234A>T	9.37:g.6251156A>T	ENSP00000370842:p.Arg78Ser					IL33_uc011lmg.1_Missense_Mutation_p.R78S|IL33_uc011lmh.1_Intron|IL33_uc003zju.1_Missense_Mutation_p.R78S	p.R78S	NM_033439	NP_254274	O95760	IL33_HUMAN		GBM - Glioblastoma multiforme(50;0.0161)|Lung(218;0.105)	4	291	+		Acute lymphoblastic leukemia(23;0.158)|Prostate(43;0.167)	78					B2R8L1|B4DJ35|B4E1Q9|D3DRI5|E7EAX4|Q2YEJ5	Missense_Mutation	SNP	ENST00000381434.3	37	c.234A>T	CCDS6468.1	.	.	.	.	.	.	.	.	.	.	A	6.914	0.538189	0.13188	.	.	ENSG00000137033	ENST00000456383;ENST00000381434	T;T	0.39592	1.07;1.07	3.45	-3.83	0.04269	.	2.444110	0.01497	N	0.017329	T	0.24547	0.0595	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.23154	-1.0196	10	0.38643	T	0.18	7.1535	10.211	0.43141	0.2981:0.0:0.7019:0.0	.	78;78	B4E1Q9;O95760	.;IL33_HUMAN	S	78	ENSP00000414238:R78S;ENSP00000370842:R78S	ENSP00000370842:R78S	R	+	3	2	IL33	6241156	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.301000	0.19174	-0.870000	0.04047	0.528000	0.53228	AGA		0.478	IL33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051655.1		NM_033439		18	55	0	0	0	0.010504	0	18	55		
HRCT1	646962	broad.mit.edu	37	9	35906559	35906559	+	Missense_Mutation	SNP	A	A	C			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr9:35906559A>C	ENST00000354323.2	+	1	371	c.275A>C	c.(274-276)cAc>cCc	p.H92P	LINC00961_ENST00000443779.1_lincRNA	NM_001039792.1	NP_001034881.1	Q6UXD1	HRCT1_HUMAN	histidine rich carboxyl terminus 1	92	His-rich.					integral component of membrane (GO:0016021)		p.H92P(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)	4						caccaccaccacccccgccac	0.682																																						uc003zyr.1		NaN																	1	Substitution - Missense(1)		prostate(1)		0						c.(274-276)CAC>CCC		histidine rich carboxyl terminus 1							24.0	19.0	20.0					9																	35906559		2189	4276	6465	SO:0001583	missense	646962					integral to membrane		g.chr9:35906559A>C		CCDS35012.1	9p13.3	2008-09-30			ENSG00000196196	ENSG00000196196			33872	protein-coding gene	gene with protein product						12975309	Standard	NM_001039792		Approved	LGLL338, PRO537, UNQ338	uc003zyr.1	Q6UXD1	OTTHUMG00000154146	ENST00000354323.2:c.275A>C	9.37:g.35906559A>C	ENSP00000346283:p.His92Pro					LOC158376_uc003zys.1_5'Flank	p.H92P	NM_001039792	NP_001034881	Q6UXD1	HRCT1_HUMAN			1	371	+			92			His-rich.		B7ZBJ1	Missense_Mutation	SNP	ENST00000354323.2	37	c.275A>C	CCDS35012.1	.	.	.	.	.	.	.	.	.	.	A	6.244	0.413193	0.11812	.	.	ENSG00000196196	ENST00000354323	.	.	.	2.44	-4.88	0.03113	.	2.969780	0.02194	N	0.061627	T	0.16257	0.0391	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.12682	-1.0538	9	0.87932	D	0	-35.0854	0.2739	0.00235	0.2845:0.1811:0.2905:0.2438	.	92	Q6UXD1	HRCT1_HUMAN	P	92	.	ENSP00000346283:H92P	H	+	2	0	HRCT1	35896559	0.200000	0.23398	0.000000	0.03702	0.183000	0.23260	0.845000	0.27668	-1.085000	0.03088	0.383000	0.25322	CAC		0.682	HRCT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334099.1		NM_001039792		5	13	0	0	0	0.003163	0	5	13		
PCSK5	5125	broad.mit.edu	37	9	78772065	78772065	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr9:78772065G>A	ENST00000545128.1	+	11	1955	c.1417G>A	c.(1417-1419)Gac>Aac	p.D473N	PCSK5_ENST00000376767.3_Missense_Mutation_p.D473N|PCSK5_ENST00000376752.4_Missense_Mutation_p.D473N	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	473					anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GGAGAGCACAGACCGACAAAT	0.522																																						uc004ajz.2		NaN																	0				ovary(2)|skin(1)	3						c.(1417-1419)GAC>AAC		proprotein convertase subtilisin/kexin type 5							117.0	99.0	105.0					9																	78772065		2203	4300	6503	SO:0001583	missense	5125				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity	g.chr9:78772065G>A		CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.1417G>A	9.37:g.78772065G>A	ENSP00000446280:p.Asp473Asn					PCSK5_uc004ajy.2_Missense_Mutation_p.D473N|PCSK5_uc004aka.2_RNA	p.D473N	NM_006200	NP_006191	Q92824	PCSK5_HUMAN			11	1955	+			473			Homo B/P.		F5H2G7|Q13527|Q96EP4	Missense_Mutation	SNP	ENST00000545128.1	37	c.1417G>A	CCDS55320.1	.	.	.	.	.	.	.	.	.	.	G	36	5.706162	0.96812	.	.	ENSG00000099139	ENST00000545128;ENST00000376754;ENST00000376767;ENST00000396108;ENST00000376752;ENST00000424854	T;T;T;T	0.69175	0.77;-0.38;0.62;1.6	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.59865	0.2225	L	0.41573	1.285	0.80722	D	1	B;B	0.23735	0.09;0.04	B;B	0.25291	0.059;0.032	T	0.55335	-0.8157	10	0.11485	T	0.65	-35.7068	19.9458	0.97181	0.0:0.0:1.0:0.0	.	473;473	Q92824-2;B1AMG5	.;.	N	473;176;473;473;473;146	ENSP00000446280:D473N;ENSP00000365958:D473N;ENSP00000365943:D473N;ENSP00000411654:D146N	ENSP00000365943:D473N	D	+	1	0	PCSK5	77961885	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.459000	0.97638	2.720000	0.93068	0.591000	0.81541	GAC		0.522	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding					11	84	0	0	0	0.008291	0	11	84		
OR13C8	138802	broad.mit.edu	37	9	107331818	107331818	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr9:107331818G>T	ENST00000335040.1	+	1	370	c.370G>T	c.(370-372)Gtg>Ttg	p.V124L		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	124						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						GGACCGCTATGTGGCCATCTG	0.537																																						uc011lvo.1		NaN																	0				ovary(1)|skin(1)	2						c.(370-372)GTG>TTG		olfactory receptor, family 13, subfamily C,							108.0	93.0	98.0					9																	107331818		2203	4300	6503	SO:0001583	missense	138802				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107331818G>T		CCDS35090.1	9q31.1	2013-09-24			ENSG00000186943	ENSG00000186943		"""GPCR / Class A : Olfactory receptors"""	15103	protein-coding gene	gene with protein product							Standard	NM_001004483		Approved		uc011lvo.2	Q8NGS7	OTTHUMG00000020409	ENST00000335040.1:c.370G>T	9.37:g.107331818G>T	ENSP00000334068:p.Val124Leu						p.V124L	NM_001004483	NP_001004483	Q8NGS7	O13C8_HUMAN			1	370	+			124			Cytoplasmic (Potential).		Q5VVG0|Q96R44	Missense_Mutation	SNP	ENST00000335040.1	37	c.370G>T	CCDS35090.1	.	.	.	.	.	.	.	.	.	.	G	13.92	2.380963	0.42207	.	.	ENSG00000186943	ENST00000335040	T	0.01406	4.93	5.18	3.05	0.35203	GPCR, rhodopsin-like superfamily (1);	0.472715	0.19697	N	0.108133	T	0.01661	0.0053	L	0.48935	1.535	0.25953	N	0.982722	B	0.31752	0.338	B	0.27170	0.077	T	0.43261	-0.9402	10	0.56958	D	0.05	.	7.8068	0.29206	0.2423:0.0:0.7577:0.0	.	124	Q8NGS7	O13C8_HUMAN	L	124	ENSP00000334068:V124L	ENSP00000334068:V124L	V	+	1	0	OR13C8	106371639	0.000000	0.05858	0.991000	0.47740	0.875000	0.50365	-0.179000	0.09768	0.658000	0.30925	0.655000	0.94253	GTG		0.537	OR13C8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053480.1				13	47	1	0	4.14922e-12	0.004007	4.69637e-12	13	47		
TTF1	7270	broad.mit.edu	37	9	135277170	135277170	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr9:135277170C>A	ENST00000334270.2	-	2	1078	c.1039G>T	c.(1039-1041)Gtg>Ttg	p.V347L		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	347					chromatin remodeling (GO:0006338)|DNA-templated transcription, termination (GO:0006353)|gene expression (GO:0010467)|negative regulation of DNA replication (GO:0008156)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		GGCATGGCCACTGCCTCAAAT	0.483																																						uc004cbl.2		NaN																	0				ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4						c.(1039-1041)GTG>TTG		transcription termination factor, RNA polymerase							122.0	119.0	120.0					9																	135277170		2203	4300	6503	SO:0001583	missense	7270				negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding	g.chr9:135277170C>A	BC050734	CCDS6948.1, CCDS75925.1	9q34.3	2008-02-05			ENSG00000125482	ENSG00000125482			12397	protein-coding gene	gene with protein product		600777				7597036	Standard	NM_007344		Approved		uc004cbl.3	Q15361	OTTHUMG00000020836	ENST00000334270.2:c.1039G>T	9.37:g.135277170C>A	ENSP00000333920:p.Val347Leu					TTF1_uc011mcp.1_RNA|TTF1_uc004cbm.2_Intron	p.V347L	NM_007344	NP_031370	Q15361	TTF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)	2	1091	-		Myeloproliferative disorder(178;0.204)	347					A1L160|Q4VXF3|Q58EY2|Q6P5T5	Missense_Mutation	SNP	ENST00000334270.2	37	c.1039G>T	CCDS6948.1	.	.	.	.	.	.	.	.	.	.	C	0.007	-1.938359	0.00484	.	.	ENSG00000125482	ENST00000334270;ENST00000245588	T	0.09255	3.0	4.14	-8.29	0.01009	.	5.007690	0.00166	N	0.000014	T	0.03178	0.0093	N	0.02315	-0.6	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30966	-0.9960	10	0.11485	T	0.65	.	4.3706	0.11246	0.1372:0.5067:0.1566:0.1995	.	347	Q15361	TTF1_HUMAN	L	347	ENSP00000333920:V347L	ENSP00000245588:V347L	V	-	1	0	TTF1	134266991	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.493000	0.00972	-3.239000	0.00207	-3.811000	0.00019	GTG		0.483	TTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054784.2		NM_007344		4	107	1	0	2.56e-06	0.009096	2.69061e-06	4	107		
CDR1	1038	broad.mit.edu	37	X	139866364	139866364	+	Silent	SNP	A	A	G			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chrX:139866364A>G	ENST00000370532.2	-	1	359	c.168T>C	c.(166-168)gaT>gaC	p.D56D		NM_004065.2	NP_004056.2	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1, 34kDa	56	23 X 6 AA approximate repeats.									breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				CTTCCAGCAAATCCACGTCTT	0.438																																						uc004fbg.1		NaN																	0					0						c.(166-168)GAT>GAC		cerebellar degeneration-related protein 1,							117.0	110.0	113.0					X																	139866364		2203	4300	6503	SO:0001819	synonymous_variant	1038							g.chrX:139866364A>G		CCDS14670.1	Xq27.1	2013-06-13	2002-08-29		ENSG00000184258	ENSG00000184258			1798	protein-coding gene	gene with protein product	"""Cerebellar degeneration-related protein-1 (34kD)"""	302650	"""cerebellar degeneration-related protein (34kD)"""	CDR		2326268	Standard	NM_004065		Approved	CDR62A, CDR34	uc004fbg.1	P51861	OTTHUMG00000137398	ENST00000370532.2:c.168T>C	X.37:g.139866364A>G						uc004fbf.1_RNA	p.D56D	NM_004065	NP_004056	P51861	CDR1_HUMAN			1	360	-	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)	56			23 X 6 AA approximate repeats.|9.		Q5JXH6	Silent	SNP	ENST00000370532.2	37	c.168T>C	CCDS14670.1																																																																																				0.438	CDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058583.1		NM_004065		3	46	0	0	0	0.004672	0	3	46		
ADAMTSL4	54507	broad.mit.edu	37	1	150530506	150530506	+	Frame_Shift_Del	DEL	G	G	-	rs149280379		TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr1:150530506delG	ENST00000369038.2	+	12	2464	c.2263delG	c.(2263-2265)gggfs	p.G758fs	RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000271643.4_Frame_Shift_Del_p.G758fs|ADAMTSL4_ENST00000369039.5_Frame_Shift_Del_p.G781fs|ADAMTSL4_ENST00000369041.5_Frame_Shift_Del_p.G758fs			Q6UY14	ATL4_HUMAN	ADAMTS-like 4	758	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|positive regulation of apoptotic process (GO:0043065)	interstitial matrix (GO:0005614)	metalloendopeptidase activity (GO:0004222)|protease binding (GO:0002020)			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GCAGGAATTTGGGGGGGGTGG	0.692																																						uc001eux.2		NaN																	0				ovary(1)|skin(1)	2						c.(2263-2265)GGGfs		thrombospondin repeat containing 1 isoform 1							41.0	49.0	46.0					1																	150530506		2147	4195	6342	SO:0001589	frameshift_variant	54507				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding	g.chr1:150530506delG	BC027478	CCDS955.1, CCDS30852.1, CCDS72908.1	1q21.2	2008-02-05	2005-12-01	2005-12-01	ENSG00000143382	ENSG00000143382			19706	protein-coding gene	gene with protein product		610113	"""thrombospondin repeat containing 1"""	TSRC1		12706885	Standard	NM_019032		Approved	DKFZP434K1772	uc001eux.3	Q6UY14	OTTHUMG00000034863	ENST00000369038.2:c.2263delG	1.37:g.150530506delG	ENSP00000358034:p.Gly758fs					ADAMTSL4_uc001euw.2_Frame_Shift_Del_p.G755fs|ADAMTSL4_uc009wlw.2_Frame_Shift_Del_p.G778fs|ADAMTSL4_uc010pcg.1_Frame_Shift_Del_p.G716fs|ADAMTSL4_uc009wlx.2_5'UTR	p.G755fs	NM_019032	NP_061905	Q6UY14	ATL4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		14	2499	+	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		755			TSP type-1 2.		B2RTT0|F8WAD0|Q5T5F7|Q6IPM6|Q8N643|Q9HBS6	Frame_Shift_Del	DEL	ENST00000369038.2	37	c.2263delG	CCDS955.1																																																																																				0.692	ADAMTSL4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084395.4		NM_019032		7	248	NaN	NaN	NaN	NaN	NaN	7	248	---	---
KIF1C	10749	broad.mit.edu	37	17	4905382	4905382	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr17:4905382delG	ENST00000320785.5	+	6	749	c.392delG	c.(391-393)agtfs	p.S131fs		NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN	kinesin family member 1C	131	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						TCTCGCGTTAGTGAGAACCAG	0.582																																					Melanoma(96;1023 1447 10250 19259 33730)	uc002gan.1		NaN																	0				breast(2)	2						c.(391-393)AGTfs		kinesin family member 1C							122.0	103.0	110.0					17																	4905382		2203	4300	6503	SO:0001589	frameshift_variant	10749				microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	endoplasmic reticulum|Golgi apparatus|microtubule	ATP binding|microtubule motor activity	g.chr17:4905382delG	U91329	CCDS11065.1	17p13.2	2014-03-03			ENSG00000129250	ENSG00000129250		"""Kinesins"""	6317	protein-coding gene	gene with protein product		603060	"""spastic ataxia 2 (autosomal recessive)"""	SAX2		9685376, 24319291, 24482476	Standard	NM_006612		Approved	SPAX2, SPG58	uc002gan.2	O43896	OTTHUMG00000099451	ENST00000320785.5:c.392delG	17.37:g.4905382delG	ENSP00000320821:p.Ser131fs						p.S131fs	NM_006612	NP_006603	O43896	KIF1C_HUMAN			6	718	+			131			Kinesin-motor.		D3DTL6|O75186|Q5U618	Frame_Shift_Del	DEL	ENST00000320785.5	37	c.392delG	CCDS11065.1																																																																																				0.582	KIF1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216916.1				33	115	NaN	NaN	NaN	NaN	NaN	33	115	---	---
MIEF2	125170	broad.mit.edu	37	17	18167412	18167412	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr17:18167412delC	ENST00000323019.4	+	4	910	c.699delC	c.(697-699)tgcfs	p.C233fs	MIEF2_ENST00000395706.2_Frame_Shift_Del_p.C244fs|MIEF2_ENST00000395704.4_3'UTR|MIEF2_ENST00000577216.1_3'UTR	NM_001144900.1|NM_139162.3	NP_001138372.1|NP_631901.2	Q96C03	MID49_HUMAN	mitochondrial elongation factor 2	233					mitochondrion organization (GO:0007005)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein homooligomerization (GO:0032464)|positive regulation of protein targeting to membrane (GO:0090314)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)											TTGAGTTCTGCCCCCGTGGGA	0.706																																						uc002gst.2		NaN																	0					0						c.(697-699)TGCfs		Smith-Magenis syndrome chromosome region,							8.0	7.0	8.0					17																	18167412		2136	4211	6347	SO:0001589	frameshift_variant	125170					integral to membrane	protein binding	g.chr17:18167412delC	BC014973	CCDS11193.1, CCDS45624.1, CCDS45625.1	17p11.2	2013-09-23	2013-09-23	2013-09-23	ENSG00000177427	ENSG00000177427			17920	protein-coding gene	gene with protein product		615498	"""Smith-Magenis syndrome chromosome region, candidate 7"""	SMCR7		11997338, 21508961	Standard	NM_001144900		Approved	MGC23130, MiD49	uc010vxq.2	Q96C03	OTTHUMG00000059392	ENST00000323019.4:c.699delC	17.37:g.18167412delC	ENSP00000323591:p.Cys233fs					SMCR7_uc002gsu.2_3'UTR|SMCR7_uc010vxq.1_Frame_Shift_Del_p.C244fs	p.C233fs	NM_139162	NP_631901	Q96C03	SMCR7_HUMAN			4	910	+	all_neural(463;0.228)		233					J3KPT3|Q6ZRD4|Q96N07	Frame_Shift_Del	DEL	ENST00000323019.4	37	c.699delC	CCDS11193.1																																																																																				0.706	MIEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132060.2		NM_139162		2	4	NaN	NaN	NaN	NaN	NaN	2	4	---	---
ERC2	26059	broad.mit.edu	37	3	55733470	55733472	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr3:55733470_55733472delTGG	ENST00000288221.6	-	16	3036_3038	c.2781_2783delCCA	c.(2779-2784)caccat>cat	p.927_928HH>H		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	927	Poly-His.					cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		gtggtggtgatggtggtggtggt	0.502																																						uc003dhr.1		NaN																	0				ovary(2)	2						c.(2779-2784)CACCAT>CAT		cytomatrix protein p110																																				SO:0001651	inframe_deletion	26059					cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding	g.chr3:55733470_55733472delTGG	AB002376	CCDS46851.1	3p14.3	2006-08-14			ENSG00000187672	ENSG00000187672			31922	protein-coding gene	gene with protein product							Standard	NM_015576		Approved	CAST, CAST1, KIAA0378, SPBC110, Spc110, ELKSL	uc003dhr.1	O15083	OTTHUMG00000158390	ENST00000288221.6:c.2781_2783delCCA	3.37:g.55733479_55733481delTGG	ENSP00000288221:p.His932del					ERC2_uc003dhq.1_RNA	p.927_928HH>H	NM_015576	NP_056391	O15083	ERC2_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)	16	3037_3039	-			927_928			Poly-His.		Q2T9F6|Q86TK4	In_Frame_Del	DEL	ENST00000288221.6	37	c.2781_2783delCCA	CCDS46851.1																																																																																				0.502	ERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350884.2		NM_015576		9	464	NaN	NaN	NaN	NaN	NaN	9	464	---	---
OTUD4	54726	broad.mit.edu	37	4	146077123	146077125	+	In_Frame_Del	DEL	CAG	CAG	-	rs150581210		TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr4:146077123_146077125delCAG	ENST00000447906.2	-	8	840_842	c.653_655delCTG	c.(652-657)gctgat>gat	p.A218del	OTUD4_ENST00000454497.2_In_Frame_Del_p.A153del|OTUD4_ENST00000455611.2_5'UTR			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	218					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					CCATTCACATCAGCAGCAGCAGC	0.34																																						uc003ika.3		NaN																	0				ovary(2)|breast(1)	3						c.(457-462)GCTGAT>GAT		OTU domain containing 4 protein isoform 3																																				SO:0001651	inframe_deletion	54726						protein binding	g.chr4:146077123_146077125delCAG		CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"""OTU domain containing"""	24949	protein-coding gene	gene with protein product		611744	"""OTU domain containing 4"""			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.653_655delCTG	4.37:g.146077132_146077134delCAG	ENSP00000395487:p.Ala218del					OTUD4_uc003ijz.3_In_Frame_Del_p.A153del	p.A153del	NM_001102653	NP_001096123	Q01804	OTUD4_HUMAN			8	596_598	-	all_hematologic(180;0.151)		218					B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	In_Frame_Del	DEL	ENST00000447906.2	37	c.458_460delCTG																																																																																					0.340	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2		NM_017493		8	264	NaN	NaN	NaN	NaN	NaN	8	264	---	---
IK	3550	broad.mit.edu	37	5	140032593	140032594	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr5:140032593_140032594delGA	ENST00000417647.2	+	5	407_408	c.268_269delGA	c.(268-270)gagfs	p.E90fs	IK_ENST00000523672.1_3'UTR	NM_006083.3	NP_006074.2	Q13123	RED_HUMAN	IK cytokine, down-regulator of HLA II	90					cell-cell signaling (GO:0007267)|immune response (GO:0006955)	extracellular space (GO:0005615)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			large_intestine(1)	1		all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAAGAAATTGAGAGAGAGAGA	0.46																																						uc003lgq.2		NaN																	0				large_intestine(1)	1						c.(268-270)GAGfs		RED protein																																				SO:0001589	frameshift_variant	3550				cell-cell signaling|immune response	extracellular space|nucleus|soluble fraction		g.chr5:140032593_140032594delGA	BC051295	CCDS47280.1	5q31.3	2008-08-07			ENSG00000113141	ENSG00000113141			5958	protein-coding gene	gene with protein product		600549				7970704	Standard	NM_006083		Approved		uc003lgq.3	Q13123	OTTHUMG00000163374	ENST00000417647.2:c.268_269delGA	5.37:g.140032603_140032604delGA	ENSP00000396301:p.Glu90fs					IK_uc011czk.1_Frame_Shift_Del_p.E90fs	p.E90fs	NM_006083	NP_006074	Q13123	RED_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		5	378_379	+		all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128)	90					Q6IPD8	Frame_Shift_Del	DEL	ENST00000417647.2	37	c.268_269delGA	CCDS47280.1																																																																																				0.460	IK-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372897.1		NM_006083		7	50	NaN	NaN	NaN	NaN	NaN	7	50	---	---
SPRY4	81848	broad.mit.edu	37	5	141694361	141694363	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr5:141694361_141694363delTGC	ENST00000434127.2	-	2	554_556	c.311_313delGCA	c.(310-315)agcaca>aca	p.S104del	SPRY4_ENST00000503582.1_5'Flank|SPRY4_ENST00000344120.4_In_Frame_Del_p.S127del	NM_001127496.1	NP_001120968.1	Q9C004	SPY4_HUMAN	sprouty homolog 4 (Drosophila)	104	Poly-Ser.				multicellular organismal development (GO:0007275)|negative regulation of MAP kinase activity (GO:0043407)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(1)	18		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCAGAGGATGTGCTGCTGCTGCT	0.66									Testicular Cancer, Familial Clustering of																													uc003lml.2		NaN																	0				ovary(1)|lung(1)	2						c.(310-315)AGCACA>ACA		sprouty homolog 4 isoform 2																																				SO:0001651	inframe_deletion	81848	Testicular_Cancer_Familial_Clustering_of	Familial Cancer Database		multicellular organismal development	cytoplasm|ruffle membrane	protein binding	g.chr5:141694361_141694363delTGC	AF227516	CCDS4274.1, CCDS47296.1	5q31.3	2010-08-05			ENSG00000187678	ENSG00000187678			15533	protein-coding gene	gene with protein product		607984				16465403	Standard	NM_030964		Approved		uc010jgi.1	Q9C004	OTTHUMG00000129663	ENST00000434127.2:c.311_313delGCA	5.37:g.141694370_141694372delTGC	ENSP00000399468:p.Ser104del					SPRY4_uc010jgi.1_In_Frame_Del_p.S127del	p.S104del	NM_001127496	NP_001120968	Q9C004	SPY4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		2	570_572	-		all_hematologic(541;0.118)	104			Poly-Ser.		A4FVB2|A4FVB3|Q6QIX2|Q9C003	In_Frame_Del	DEL	ENST00000434127.2	37	c.311_313delGCA	CCDS47296.1																																																																																				0.660	SPRY4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370652.1				8	212	NaN	NaN	NaN	NaN	NaN	8	212	---	---
CDKN1A	1026	broad.mit.edu	37	6	36652009	36652010	+	Frame_Shift_Ins	INS	-	-	G			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08			-	G	-	-		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr6:36652009_36652010insG	ENST00000405375.1	+	2	366_367	c.131_132insG	c.(130-135)gaggccfs	p.A45fs	CDKN1A_ENST00000478800.1_3'UTR|CDKN1A_ENST00000448526.2_Frame_Shift_Ins_p.A79fs|CDKN1A_ENST00000244741.5_Frame_Shift_Ins_p.A45fs|CDKN1A_ENST00000373711.2_Frame_Shift_Ins_p.A45fs	NM_001220778.1	NP_001207707.1	P38936	CDN1A_HUMAN	cyclin-dependent kinase inhibitor 1A (p21, Cip1)	45					cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to extracellular stimulus (GO:0031668)|cellular response to ionizing radiation (GO:0071479)|cellular senescence (GO:0090398)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle (GO:0000278)|mitotic cell cycle arrest (GO:0071850)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of gene expression (GO:0010629)|negative regulation of phosphorylation (GO:0042326)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ regeneration (GO:0031100)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of DNA biosynthetic process (GO:2000278)|regulation of protein import into nucleus, translocation (GO:0033158)|response to arsenic-containing substance (GO:0046685)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to hyperoxia (GO:0055093)|response to organonitrogen compound (GO:0010243)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|stress-induced premature senescence (GO:0090400)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCNA-p21 complex (GO:0070557)	cyclin-dependent protein kinase activating kinase activity (GO:0019912)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5)	15						TGCATCCAGGAGGCCCGTGAGC	0.658																																						uc003omm.3		NaN																	0				ovary(1)|breast(1)	2						c.(130-132)GAGfs		cyclin-dependent kinase inhibitor 1A																																				SO:0001589	frameshift_variant	1026	Multiple_Endocrine_Neoplasia_type_1			cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex	cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding	g.chr6:36652009_36652010insG	U03106	CCDS4824.1	6p21.1	2009-01-21			ENSG00000124762	ENSG00000124762			1784	protein-coding gene	gene with protein product		116899		CDKN1			Standard	NM_000389		Approved	P21, CIP1, WAF1, SDI1, CAP20, p21CIP1, p21Cip1/Waf1	uc021yzb.1	P38936	OTTHUMG00000014603	ENST00000405375.1:c.133dupG	6.37:g.36652011_36652011dupG	ENSP00000384849:p.Ala45fs					CDKN1A_uc011dtq.1_Frame_Shift_Ins_p.E78fs|CDKN1A_uc003oml.2_Frame_Shift_Ins_p.E44fs|CDKN1A_uc003omn.2_Frame_Shift_Ins_p.E44fs	p.E44fs	NM_000389	NP_000380	P38936	CDN1A_HUMAN			2	253_254	+			44					Q14010|Q6FI05|Q9BUT4	Frame_Shift_Ins	INS	ENST00000405375.1	37	c.131_132insG	CCDS4824.1																																																																																				0.658	CDKN1A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040354.1		NM_078467		12	65	NaN	NaN	NaN	NaN	NaN	12	65	---	---
ACTB	60	broad.mit.edu	37	7	5567428	5567429	+	Frame_Shift_Ins	INS	-	-	G			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr7:5567428_5567429insG	ENST00000331789.5	-	6	1269_1270	c.1078_1079insC	c.(1078-1080)cagfs	p.Q360fs	ACTB_ENST00000464611.1_5'UTR|AC006483.1_ENST00000579427.1_RNA	NM_001101.3	NP_001092.1	P63261	ACTG_HUMAN	actin, beta	360					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|platelet aggregation (GO:0070527)|retina homeostasis (GO:0001895)|sarcomere organization (GO:0045214)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|membrane (GO:0016020)|myofibril (GO:0030016)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		GTCATACTCCTGCTTGCTGATC	0.55																																						uc003sos.3		NaN																	0					0						c.(1078-1080)CAGfs		beta actin																																				SO:0001589	frameshift_variant	60				'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton	g.chr7:5567428_5567429insG	M28424	CCDS5341.1	7p22	2014-09-17			ENSG00000075624	ENSG00000075624			132	protein-coding gene	gene with protein product		102630				1505215	Standard	NM_001101		Approved		uc003sot.4	P60709	OTTHUMG00000023268	ENST00000331789.5:c.1079dupC	7.37:g.5567429_5567429dupG	ENSP00000349960:p.Gln360fs					ACTB_uc003sor.3_Frame_Shift_Ins_p.Q238fs|ACTB_uc003sot.3_Frame_Shift_Ins_p.Q360fs|ACTB_uc003soq.3_Frame_Shift_Ins_p.Q238fs|ACTB_uc010ksy.2_Frame_Shift_Ins_p.Q238fs	p.Q360fs	NM_001101	NP_001092	P60709	ACTB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)	5	1114_1115	-		Ovarian(82;0.0606)	360					A8K7C2|P02571|P14104|P99022|Q5U032|Q96E67	Frame_Shift_Ins	INS	ENST00000331789.5	37	c.1078_1079insC	CCDS5341.1																																																																																				0.550	ACTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059589.4		NM_001101		27	351	NaN	NaN	NaN	NaN	NaN	27	351	---	---
